Incidental Mutation 'R0607:Ankhd1'
ID |
54357 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankhd1
|
Ensembl Gene |
ENSMUSG00000024483 |
Gene Name |
ankyrin repeat and KH domain containing 1 |
Synonyms |
A530027J04Rik, 9130019P20Rik, 4933432B13Rik, 1110004O12Rik |
MMRRC Submission |
038796-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0607 (G1)
|
Quality Score |
206 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
36693656-36791961 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 36773333 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Phenylalanine
at position 59
(V59F)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006205]
[ENSMUST00000142977]
[ENSMUST00000155329]
|
AlphaFold |
E9PUR0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000006205
AA Change: V1377F
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000006205 Gene: ENSMUSG00000024483 AA Change: V1377F
Domain | Start | End | E-Value | Type |
low complexity region
|
20 |
38 |
N/A |
INTRINSIC |
low complexity region
|
48 |
78 |
N/A |
INTRINSIC |
low complexity region
|
91 |
109 |
N/A |
INTRINSIC |
ANK
|
207 |
236 |
2.11e2 |
SMART |
ANK
|
240 |
269 |
3.31e-1 |
SMART |
ANK
|
274 |
303 |
5.24e-4 |
SMART |
ANK
|
307 |
336 |
7.64e-6 |
SMART |
ANK
|
340 |
369 |
2.7e-6 |
SMART |
ANK
|
374 |
403 |
3.23e-4 |
SMART |
ANK
|
407 |
436 |
1.61e-4 |
SMART |
ANK
|
440 |
469 |
5.16e-3 |
SMART |
ANK
|
473 |
502 |
4.16e-7 |
SMART |
ANK
|
507 |
536 |
1.68e-2 |
SMART |
ANK
|
537 |
566 |
7.02e-5 |
SMART |
ANK
|
570 |
599 |
7.95e-4 |
SMART |
ANK
|
603 |
632 |
4.56e-4 |
SMART |
ANK
|
637 |
666 |
9.64e-3 |
SMART |
ANK
|
670 |
699 |
6.71e-2 |
SMART |
coiled coil region
|
815 |
855 |
N/A |
INTRINSIC |
ANK
|
1057 |
1086 |
2.07e-2 |
SMART |
ANK
|
1090 |
1119 |
2.48e-5 |
SMART |
ANK
|
1124 |
1153 |
3.85e-2 |
SMART |
ANK
|
1157 |
1186 |
1.61e-4 |
SMART |
ANK
|
1192 |
1221 |
1.24e-5 |
SMART |
ANK
|
1226 |
1255 |
1.59e-3 |
SMART |
ANK
|
1259 |
1288 |
3.91e-3 |
SMART |
ANK
|
1294 |
1323 |
5.93e-3 |
SMART |
ANK
|
1327 |
1356 |
9.41e-6 |
SMART |
ANK
|
1360 |
1393 |
3.8e-1 |
SMART |
coiled coil region
|
1422 |
1486 |
N/A |
INTRINSIC |
low complexity region
|
1509 |
1526 |
N/A |
INTRINSIC |
low complexity region
|
1538 |
1557 |
N/A |
INTRINSIC |
low complexity region
|
1585 |
1604 |
N/A |
INTRINSIC |
KH
|
1693 |
1763 |
5.04e-13 |
SMART |
low complexity region
|
1968 |
2001 |
N/A |
INTRINSIC |
low complexity region
|
2041 |
2057 |
N/A |
INTRINSIC |
low complexity region
|
2064 |
2081 |
N/A |
INTRINSIC |
low complexity region
|
2334 |
2346 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000037072
|
SMART Domains |
Protein: ENSMUSP00000040300 Gene: ENSMUSG00000024483
Domain | Start | End | E-Value | Type |
low complexity region
|
1 |
16 |
N/A |
INTRINSIC |
low complexity region
|
28 |
47 |
N/A |
INTRINSIC |
low complexity region
|
75 |
94 |
N/A |
INTRINSIC |
KH
|
183 |
253 |
5.04e-13 |
SMART |
low complexity region
|
458 |
491 |
N/A |
INTRINSIC |
low complexity region
|
531 |
547 |
N/A |
INTRINSIC |
low complexity region
|
554 |
571 |
N/A |
INTRINSIC |
low complexity region
|
824 |
836 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000130035
AA Change: V79F
PolyPhen 2
Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000117110 Gene: ENSMUSG00000024483 AA Change: V79F
Domain | Start | End | E-Value | Type |
ANK
|
2 |
26 |
5.35e2 |
SMART |
ANK
|
30 |
59 |
9.41e-6 |
SMART |
ANK
|
63 |
96 |
3.8e-1 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000142977
AA Change: V1377F
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000120290 Gene: ENSMUSG00000024483 AA Change: V1377F
Domain | Start | End | E-Value | Type |
low complexity region
|
20 |
38 |
N/A |
INTRINSIC |
low complexity region
|
48 |
78 |
N/A |
INTRINSIC |
low complexity region
|
91 |
109 |
N/A |
INTRINSIC |
ANK
|
207 |
236 |
2.11e2 |
SMART |
ANK
|
240 |
269 |
3.31e-1 |
SMART |
ANK
|
274 |
303 |
5.24e-4 |
SMART |
ANK
|
307 |
336 |
7.64e-6 |
SMART |
ANK
|
340 |
369 |
2.7e-6 |
SMART |
ANK
|
374 |
403 |
3.23e-4 |
SMART |
ANK
|
407 |
436 |
1.61e-4 |
SMART |
ANK
|
440 |
469 |
5.16e-3 |
SMART |
ANK
|
473 |
502 |
4.16e-7 |
SMART |
ANK
|
507 |
536 |
1.68e-2 |
SMART |
ANK
|
537 |
566 |
7.02e-5 |
SMART |
ANK
|
570 |
599 |
7.95e-4 |
SMART |
ANK
|
603 |
632 |
4.56e-4 |
SMART |
ANK
|
637 |
666 |
9.64e-3 |
SMART |
ANK
|
670 |
699 |
6.71e-2 |
SMART |
coiled coil region
|
815 |
855 |
N/A |
INTRINSIC |
ANK
|
1057 |
1086 |
2.07e-2 |
SMART |
ANK
|
1090 |
1119 |
2.48e-5 |
SMART |
ANK
|
1124 |
1153 |
3.85e-2 |
SMART |
ANK
|
1157 |
1186 |
1.61e-4 |
SMART |
ANK
|
1192 |
1221 |
1.24e-5 |
SMART |
ANK
|
1226 |
1255 |
1.59e-3 |
SMART |
ANK
|
1259 |
1288 |
3.91e-3 |
SMART |
ANK
|
1294 |
1323 |
5.93e-3 |
SMART |
ANK
|
1327 |
1356 |
9.41e-6 |
SMART |
ANK
|
1360 |
1393 |
3.8e-1 |
SMART |
coiled coil region
|
1422 |
1486 |
N/A |
INTRINSIC |
low complexity region
|
1509 |
1526 |
N/A |
INTRINSIC |
low complexity region
|
1538 |
1557 |
N/A |
INTRINSIC |
low complexity region
|
1585 |
1604 |
N/A |
INTRINSIC |
KH
|
1693 |
1763 |
5.04e-13 |
SMART |
low complexity region
|
1968 |
2001 |
N/A |
INTRINSIC |
low complexity region
|
2041 |
2057 |
N/A |
INTRINSIC |
low complexity region
|
2064 |
2081 |
N/A |
INTRINSIC |
low complexity region
|
2334 |
2346 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152940
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000153612
AA Change: V59F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000116462 Gene: ENSMUSG00000024483 AA Change: V59F
Domain | Start | End | E-Value | Type |
ANK
|
10 |
39 |
9.41e-6 |
SMART |
ANK
|
43 |
76 |
3.8e-1 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000155329
AA Change: V1377F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000123270 Gene: ENSMUSG00000024483 AA Change: V1377F
Domain | Start | End | E-Value | Type |
low complexity region
|
20 |
38 |
N/A |
INTRINSIC |
low complexity region
|
48 |
78 |
N/A |
INTRINSIC |
low complexity region
|
91 |
109 |
N/A |
INTRINSIC |
ANK
|
207 |
236 |
2.11e2 |
SMART |
ANK
|
240 |
269 |
3.31e-1 |
SMART |
ANK
|
274 |
303 |
5.24e-4 |
SMART |
ANK
|
307 |
336 |
7.64e-6 |
SMART |
ANK
|
340 |
369 |
2.7e-6 |
SMART |
ANK
|
374 |
403 |
3.23e-4 |
SMART |
ANK
|
407 |
436 |
1.61e-4 |
SMART |
ANK
|
440 |
469 |
5.16e-3 |
SMART |
ANK
|
473 |
502 |
4.16e-7 |
SMART |
ANK
|
507 |
536 |
1.68e-2 |
SMART |
ANK
|
537 |
566 |
7.02e-5 |
SMART |
ANK
|
570 |
599 |
7.95e-4 |
SMART |
ANK
|
603 |
632 |
4.56e-4 |
SMART |
ANK
|
637 |
666 |
9.64e-3 |
SMART |
ANK
|
670 |
699 |
6.71e-2 |
SMART |
coiled coil region
|
815 |
855 |
N/A |
INTRINSIC |
ANK
|
1057 |
1086 |
2.07e-2 |
SMART |
ANK
|
1090 |
1119 |
2.48e-5 |
SMART |
ANK
|
1124 |
1153 |
3.85e-2 |
SMART |
ANK
|
1157 |
1186 |
1.61e-4 |
SMART |
ANK
|
1192 |
1221 |
1.24e-5 |
SMART |
ANK
|
1226 |
1255 |
1.59e-3 |
SMART |
ANK
|
1259 |
1288 |
3.91e-3 |
SMART |
ANK
|
1294 |
1323 |
5.93e-3 |
SMART |
ANK
|
1327 |
1356 |
9.41e-6 |
SMART |
ANK
|
1360 |
1393 |
3.8e-1 |
SMART |
coiled coil region
|
1422 |
1486 |
N/A |
INTRINSIC |
low complexity region
|
1509 |
1526 |
N/A |
INTRINSIC |
low complexity region
|
1538 |
1557 |
N/A |
INTRINSIC |
low complexity region
|
1585 |
1604 |
N/A |
INTRINSIC |
KH
|
1693 |
1763 |
5.04e-13 |
SMART |
low complexity region
|
1968 |
2001 |
N/A |
INTRINSIC |
low complexity region
|
2041 |
2057 |
N/A |
INTRINSIC |
low complexity region
|
2064 |
2081 |
N/A |
INTRINSIC |
low complexity region
|
2342 |
2362 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.1%
- 10x: 97.6%
- 20x: 95.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 147 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2900092C05Rik |
A |
G |
7: 12,288,625 (GRCm39) |
E146G |
probably benign |
Het |
Abca4 |
G |
A |
3: 121,950,081 (GRCm39) |
G594S |
probably damaging |
Het |
Acacb |
T |
C |
5: 114,338,362 (GRCm39) |
Y726H |
probably damaging |
Het |
Adam20 |
T |
A |
8: 41,248,517 (GRCm39) |
M209K |
probably benign |
Het |
Adam29 |
A |
G |
8: 56,326,310 (GRCm39) |
V48A |
probably damaging |
Het |
Adss2 |
A |
G |
1: 177,595,253 (GRCm39) |
V429A |
possibly damaging |
Het |
Aff1 |
T |
C |
5: 103,976,320 (GRCm39) |
S481P |
probably damaging |
Het |
Akr1c19 |
G |
A |
13: 4,288,459 (GRCm39) |
A146T |
probably benign |
Het |
Ankmy1 |
T |
G |
1: 92,816,397 (GRCm39) |
Y239S |
probably damaging |
Het |
Ankrd24 |
G |
T |
10: 81,474,142 (GRCm39) |
C19F |
probably damaging |
Het |
Apaf1 |
T |
C |
10: 90,845,065 (GRCm39) |
H1002R |
probably damaging |
Het |
Apc2 |
T |
C |
10: 80,149,935 (GRCm39) |
I1663T |
probably benign |
Het |
Apcdd1 |
A |
G |
18: 63,084,967 (GRCm39) |
N388S |
possibly damaging |
Het |
Arap2 |
G |
A |
5: 62,763,474 (GRCm39) |
P1557S |
possibly damaging |
Het |
Armc2 |
T |
A |
10: 41,798,691 (GRCm39) |
H706L |
probably benign |
Het |
Arrb1 |
T |
C |
7: 99,237,403 (GRCm39) |
|
probably null |
Het |
Atl3 |
T |
C |
19: 7,507,031 (GRCm39) |
|
probably null |
Het |
B9d2 |
A |
G |
7: 25,382,757 (GRCm39) |
T44A |
probably damaging |
Het |
Btbd3 |
C |
T |
2: 138,125,736 (GRCm39) |
R307W |
possibly damaging |
Het |
C1galt1 |
T |
C |
6: 7,871,193 (GRCm39) |
I343T |
probably benign |
Het |
Cacna1a |
A |
G |
8: 85,356,460 (GRCm39) |
D1901G |
probably damaging |
Het |
Ccdc42 |
C |
T |
11: 68,488,536 (GRCm39) |
Q312* |
probably null |
Het |
Cdh18 |
T |
C |
15: 23,410,876 (GRCm39) |
Y454H |
probably benign |
Het |
Celf5 |
G |
A |
10: 81,301,839 (GRCm39) |
T317I |
probably damaging |
Het |
Celsr2 |
A |
T |
3: 108,311,211 (GRCm39) |
|
probably null |
Het |
Cenpf |
A |
T |
1: 189,414,660 (GRCm39) |
|
probably null |
Het |
Cep350 |
T |
C |
1: 155,747,794 (GRCm39) |
D2042G |
probably damaging |
Het |
Chd3 |
T |
C |
11: 69,235,184 (GRCm39) |
D2054G |
probably damaging |
Het |
Chgb |
A |
G |
2: 132,635,255 (GRCm39) |
H399R |
probably benign |
Het |
Clp1 |
C |
T |
2: 84,555,935 (GRCm39) |
A182T |
possibly damaging |
Het |
Col15a1 |
A |
G |
4: 47,282,654 (GRCm39) |
N777S |
probably damaging |
Het |
Coq6 |
A |
G |
12: 84,415,412 (GRCm39) |
D145G |
possibly damaging |
Het |
Csf2rb2 |
T |
C |
15: 78,172,108 (GRCm39) |
Y325C |
probably benign |
Het |
Ctnna2 |
T |
C |
6: 76,879,413 (GRCm39) |
T824A |
probably benign |
Het |
Cyp4x1 |
T |
A |
4: 114,970,023 (GRCm39) |
D368V |
probably damaging |
Het |
D430041D05Rik |
C |
T |
2: 104,063,790 (GRCm39) |
R1354H |
probably damaging |
Het |
D6Ertd527e |
A |
C |
6: 87,088,887 (GRCm39) |
D350A |
unknown |
Het |
Ddx24 |
A |
G |
12: 103,385,326 (GRCm39) |
Y426H |
possibly damaging |
Het |
Dexi |
G |
T |
16: 10,360,426 (GRCm39) |
Y43* |
probably null |
Het |
Dgka |
A |
G |
10: 128,556,338 (GRCm39) |
|
probably null |
Het |
Dhx38 |
A |
T |
8: 110,285,575 (GRCm39) |
D419E |
probably benign |
Het |
Dlg1 |
G |
A |
16: 31,656,992 (GRCm39) |
V596I |
possibly damaging |
Het |
Dlg1 |
C |
A |
16: 31,484,398 (GRCm39) |
Q9K |
probably benign |
Het |
Dnah11 |
A |
C |
12: 118,046,246 (GRCm39) |
W1731G |
probably damaging |
Het |
Dnhd1 |
T |
A |
7: 105,369,995 (GRCm39) |
N4473K |
probably benign |
Het |
Dync2h1 |
A |
C |
9: 7,051,480 (GRCm39) |
S3152A |
probably benign |
Het |
Egfl7 |
C |
T |
2: 26,479,452 (GRCm39) |
T68I |
probably damaging |
Het |
Eif2a |
G |
A |
3: 58,463,073 (GRCm39) |
|
probably null |
Het |
Emb |
G |
A |
13: 117,369,286 (GRCm39) |
V56I |
possibly damaging |
Het |
Enpp4 |
A |
T |
17: 44,410,386 (GRCm39) |
C397S |
probably damaging |
Het |
Entpd3 |
A |
G |
9: 120,386,471 (GRCm39) |
T151A |
possibly damaging |
Het |
Ero1b |
A |
G |
13: 12,589,747 (GRCm39) |
D50G |
probably damaging |
Het |
Fam219a |
A |
G |
4: 41,520,242 (GRCm39) |
*169Q |
probably null |
Het |
Fga |
G |
A |
3: 82,935,869 (GRCm39) |
G32E |
probably damaging |
Het |
Fkbpl |
T |
C |
17: 34,864,333 (GRCm39) |
F34L |
probably benign |
Het |
Fsd2 |
T |
A |
7: 81,194,765 (GRCm39) |
D466V |
probably damaging |
Het |
Gja1 |
A |
G |
10: 56,264,166 (GRCm39) |
Y175C |
possibly damaging |
Het |
Gm5478 |
T |
A |
15: 101,553,059 (GRCm39) |
I338F |
probably damaging |
Het |
Greb1 |
T |
A |
12: 16,732,194 (GRCm39) |
Y1589F |
probably damaging |
Het |
Grk3 |
C |
T |
5: 113,067,919 (GRCm39) |
E537K |
probably damaging |
Het |
H2-K2 |
G |
T |
17: 34,218,474 (GRCm39) |
D127E |
probably damaging |
Het |
Hcrtr2 |
A |
G |
9: 76,137,966 (GRCm39) |
L383P |
probably benign |
Het |
Hmcn1 |
C |
T |
1: 150,514,651 (GRCm39) |
V3574M |
probably benign |
Het |
Ikbke |
A |
T |
1: 131,197,921 (GRCm39) |
|
probably null |
Het |
Il1r2 |
A |
G |
1: 40,144,615 (GRCm39) |
K101E |
probably benign |
Het |
Itga11 |
A |
T |
9: 62,681,653 (GRCm39) |
H1054L |
probably benign |
Het |
Kif13a |
A |
T |
13: 46,956,187 (GRCm39) |
V539D |
probably damaging |
Het |
Kifc1 |
G |
A |
17: 34,105,621 (GRCm39) |
T62I |
probably damaging |
Het |
Klhl28 |
A |
G |
12: 64,998,529 (GRCm39) |
Y322H |
probably damaging |
Het |
Klhl6 |
C |
A |
16: 19,775,764 (GRCm39) |
D265Y |
possibly damaging |
Het |
Krt86 |
T |
A |
15: 101,377,412 (GRCm39) |
C479S |
unknown |
Het |
Lama2 |
C |
T |
10: 27,065,127 (GRCm39) |
R1179H |
probably benign |
Het |
Lce6a |
A |
T |
3: 92,527,635 (GRCm39) |
H57Q |
probably benign |
Het |
Lcn11 |
T |
C |
2: 25,669,305 (GRCm39) |
V154A |
probably benign |
Het |
Lnpep |
A |
T |
17: 17,758,816 (GRCm39) |
F843I |
probably damaging |
Het |
Lrrc49 |
C |
T |
9: 60,573,640 (GRCm39) |
V281I |
probably benign |
Het |
Lrrtm1 |
C |
A |
6: 77,221,611 (GRCm39) |
A356E |
probably damaging |
Het |
Map3k1 |
A |
C |
13: 111,900,044 (GRCm39) |
H493Q |
probably benign |
Het |
Mcm4 |
A |
T |
16: 15,449,979 (GRCm39) |
|
probably null |
Het |
Mdn1 |
C |
T |
4: 32,712,014 (GRCm39) |
P1844L |
probably damaging |
Het |
Mdn1 |
T |
A |
4: 32,732,829 (GRCm39) |
D3076E |
probably benign |
Het |
Med6 |
A |
T |
12: 81,635,798 (GRCm39) |
L27H |
probably damaging |
Het |
Mrtfb |
A |
G |
16: 13,199,465 (GRCm39) |
E106G |
probably damaging |
Het |
Myo7a |
T |
A |
7: 97,721,153 (GRCm39) |
T1271S |
probably damaging |
Het |
Myo9a |
T |
A |
9: 59,829,076 (GRCm39) |
M2376K |
probably benign |
Het |
Nell2 |
G |
A |
15: 95,127,095 (GRCm39) |
T760I |
probably benign |
Het |
Neurod6 |
C |
T |
6: 55,656,572 (GRCm39) |
A22T |
probably benign |
Het |
Nlrp10 |
T |
C |
7: 108,523,492 (GRCm39) |
K663E |
probably benign |
Het |
Nopchap1 |
T |
C |
10: 83,197,961 (GRCm39) |
S56P |
probably benign |
Het |
Npr3 |
T |
A |
15: 11,845,368 (GRCm39) |
K501N |
probably benign |
Het |
Nr2f2 |
C |
A |
7: 70,004,460 (GRCm39) |
R264L |
probably damaging |
Het |
Nup35 |
T |
A |
2: 80,472,984 (GRCm39) |
M19K |
probably benign |
Het |
Oacyl |
A |
T |
18: 65,880,962 (GRCm39) |
Q592L |
possibly damaging |
Het |
Or10a4 |
T |
A |
7: 106,696,933 (GRCm39) |
I87K |
probably benign |
Het |
Or1ad6 |
C |
A |
11: 50,860,670 (GRCm39) |
A275D |
possibly damaging |
Het |
Or2v1 |
C |
G |
11: 49,025,549 (GRCm39) |
H177D |
probably damaging |
Het |
Or4a71 |
A |
G |
2: 89,358,451 (GRCm39) |
V101A |
possibly damaging |
Het |
Or5af1 |
T |
A |
11: 58,722,798 (GRCm39) |
S273T |
probably damaging |
Het |
Or5b105 |
G |
A |
19: 13,080,642 (GRCm39) |
R3C |
possibly damaging |
Het |
Or5b122 |
T |
A |
19: 13,563,534 (GRCm39) |
Y289N |
probably damaging |
Het |
Or5p51 |
A |
G |
7: 107,444,776 (GRCm39) |
S55P |
probably damaging |
Het |
Or6c76b |
T |
G |
10: 129,693,070 (GRCm39) |
S228A |
possibly damaging |
Het |
Or8k25 |
T |
A |
2: 86,243,514 (GRCm39) |
N294I |
probably damaging |
Het |
Or9k7 |
T |
C |
10: 130,046,939 (GRCm39) |
E20G |
probably benign |
Het |
Patl2 |
T |
C |
2: 121,957,150 (GRCm39) |
Y128C |
probably benign |
Het |
Pcdhac2 |
A |
G |
18: 37,278,942 (GRCm39) |
I641V |
probably benign |
Het |
Polr2b |
T |
C |
5: 77,461,006 (GRCm39) |
|
probably benign |
Het |
Pot1b |
A |
T |
17: 55,972,765 (GRCm39) |
I469N |
probably damaging |
Het |
Prdm11 |
G |
T |
2: 92,844,130 (GRCm39) |
D33E |
possibly damaging |
Het |
Prkdc |
A |
G |
16: 15,589,921 (GRCm39) |
S2595G |
probably damaging |
Het |
Prrc1 |
G |
A |
18: 57,507,622 (GRCm39) |
V259I |
possibly damaging |
Het |
Prrc2b |
G |
T |
2: 32,103,882 (GRCm39) |
R1120L |
probably damaging |
Het |
Prss38 |
T |
C |
11: 59,266,369 (GRCm39) |
S30G |
possibly damaging |
Het |
Raph1 |
A |
T |
1: 60,565,028 (GRCm39) |
L153Q |
probably damaging |
Het |
Reck |
A |
G |
4: 43,940,719 (GRCm39) |
T843A |
probably benign |
Het |
Rgs7bp |
T |
C |
13: 105,103,610 (GRCm39) |
N164D |
probably benign |
Het |
Rpusd4 |
C |
A |
9: 35,179,289 (GRCm39) |
A35D |
possibly damaging |
Het |
Setd1b |
T |
C |
5: 123,298,014 (GRCm39) |
|
probably benign |
Het |
Siglec15 |
G |
T |
18: 78,089,352 (GRCm39) |
D297E |
probably benign |
Het |
Skint7 |
T |
A |
4: 111,834,656 (GRCm39) |
C13* |
probably null |
Het |
Slc5a12 |
A |
G |
2: 110,463,088 (GRCm39) |
M395V |
probably benign |
Het |
Sohlh2 |
C |
A |
3: 55,115,104 (GRCm39) |
S363Y |
probably damaging |
Het |
Srgap3 |
A |
T |
6: 112,700,080 (GRCm39) |
V966E |
probably damaging |
Het |
Stk4 |
C |
T |
2: 163,940,462 (GRCm39) |
P266L |
probably damaging |
Het |
Stxbp5l |
G |
A |
16: 36,962,794 (GRCm39) |
H754Y |
probably benign |
Het |
Synpo2l |
A |
T |
14: 20,710,748 (GRCm39) |
M624K |
probably damaging |
Het |
Tas2r136 |
T |
C |
6: 132,754,375 (GRCm39) |
I251V |
probably benign |
Het |
Tecpr1 |
C |
T |
5: 144,149,408 (GRCm39) |
V340M |
probably damaging |
Het |
Tecta |
C |
T |
9: 42,299,501 (GRCm39) |
G196S |
probably damaging |
Het |
Tex55 |
A |
C |
16: 38,648,726 (GRCm39) |
S128A |
probably benign |
Het |
Thsd7a |
T |
A |
6: 12,331,541 (GRCm39) |
|
probably null |
Het |
Timeless |
T |
C |
10: 128,082,203 (GRCm39) |
V577A |
probably benign |
Het |
Tln1 |
A |
T |
4: 43,553,071 (GRCm39) |
V340E |
probably damaging |
Het |
Tmem132c |
T |
A |
5: 127,640,617 (GRCm39) |
Y929* |
probably null |
Het |
Tmprss7 |
C |
T |
16: 45,489,914 (GRCm39) |
R436Q |
probably damaging |
Het |
Tnik |
A |
C |
3: 28,704,308 (GRCm39) |
K989T |
probably damaging |
Het |
Tnxb |
T |
A |
17: 34,890,892 (GRCm39) |
Y412N |
probably damaging |
Het |
Trmt44 |
A |
G |
5: 35,726,103 (GRCm39) |
|
probably null |
Het |
Trpm6 |
C |
A |
19: 18,849,585 (GRCm39) |
T1704N |
probably benign |
Het |
Tsc2 |
A |
T |
17: 24,840,686 (GRCm39) |
V391E |
probably damaging |
Het |
Ttc22 |
T |
C |
4: 106,496,510 (GRCm39) |
V520A |
possibly damaging |
Het |
Ttc3 |
T |
A |
16: 94,257,644 (GRCm39) |
Y1650* |
probably null |
Het |
Vmn2r24 |
A |
G |
6: 123,763,893 (GRCm39) |
T257A |
probably benign |
Het |
Xab2 |
A |
C |
8: 3,663,605 (GRCm39) |
N408K |
probably benign |
Het |
Zbtb42 |
A |
T |
12: 112,647,061 (GRCm39) |
Y412F |
probably benign |
Het |
Zfp282 |
A |
G |
6: 47,857,303 (GRCm39) |
N179D |
probably damaging |
Het |
Zfp62 |
C |
A |
11: 49,106,227 (GRCm39) |
T106K |
probably benign |
Het |
|
Other mutations in Ankhd1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00088:Ankhd1
|
APN |
18 |
36,798,512 (GRCm39) |
unclassified |
probably benign |
|
IGL00927:Ankhd1
|
APN |
18 |
36,765,125 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01367:Ankhd1
|
APN |
18 |
36,711,696 (GRCm39) |
missense |
probably benign |
0.16 |
IGL01624:Ankhd1
|
APN |
18 |
36,791,066 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01725:Ankhd1
|
APN |
18 |
36,781,206 (GRCm39) |
missense |
probably benign |
0.04 |
IGL01767:Ankhd1
|
APN |
18 |
36,781,427 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02005:Ankhd1
|
APN |
18 |
36,781,479 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02009:Ankhd1
|
APN |
18 |
36,757,714 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02246:Ankhd1
|
APN |
18 |
36,789,779 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02336:Ankhd1
|
APN |
18 |
36,727,867 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02628:Ankhd1
|
APN |
18 |
36,780,756 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02644:Ankhd1
|
APN |
18 |
36,711,828 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02735:Ankhd1
|
APN |
18 |
36,781,599 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02877:Ankhd1
|
APN |
18 |
36,727,876 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03129:Ankhd1
|
APN |
18 |
36,791,061 (GRCm39) |
nonsense |
probably null |
|
IGL03163:Ankhd1
|
APN |
18 |
36,780,681 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL03182:Ankhd1
|
APN |
18 |
36,711,827 (GRCm39) |
missense |
probably benign |
0.06 |
IGL03184:Ankhd1
|
APN |
18 |
36,780,830 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03398:Ankhd1
|
APN |
18 |
36,789,890 (GRCm39) |
splice site |
probably benign |
|
FR4304:Ankhd1
|
UTSW |
18 |
36,693,977 (GRCm39) |
small insertion |
probably benign |
|
R0051:Ankhd1
|
UTSW |
18 |
36,780,241 (GRCm39) |
unclassified |
probably benign |
|
R0089:Ankhd1
|
UTSW |
18 |
36,773,409 (GRCm39) |
missense |
probably damaging |
0.99 |
R0105:Ankhd1
|
UTSW |
18 |
36,779,819 (GRCm39) |
missense |
probably damaging |
1.00 |
R0149:Ankhd1
|
UTSW |
18 |
36,780,267 (GRCm39) |
missense |
probably damaging |
1.00 |
R0243:Ankhd1
|
UTSW |
18 |
36,767,787 (GRCm39) |
missense |
probably damaging |
1.00 |
R0322:Ankhd1
|
UTSW |
18 |
36,791,061 (GRCm39) |
nonsense |
probably null |
|
R0361:Ankhd1
|
UTSW |
18 |
36,780,267 (GRCm39) |
missense |
probably damaging |
1.00 |
R0389:Ankhd1
|
UTSW |
18 |
36,777,652 (GRCm39) |
missense |
possibly damaging |
0.48 |
R0418:Ankhd1
|
UTSW |
18 |
36,767,353 (GRCm39) |
missense |
probably damaging |
1.00 |
R0443:Ankhd1
|
UTSW |
18 |
36,777,652 (GRCm39) |
missense |
possibly damaging |
0.48 |
R0540:Ankhd1
|
UTSW |
18 |
36,773,333 (GRCm39) |
missense |
probably damaging |
1.00 |
R0738:Ankhd1
|
UTSW |
18 |
36,778,302 (GRCm39) |
splice site |
probably benign |
|
R1127:Ankhd1
|
UTSW |
18 |
36,767,399 (GRCm39) |
missense |
probably damaging |
1.00 |
R1434:Ankhd1
|
UTSW |
18 |
36,758,212 (GRCm39) |
missense |
probably benign |
0.09 |
R1742:Ankhd1
|
UTSW |
18 |
36,758,318 (GRCm39) |
missense |
probably damaging |
1.00 |
R1776:Ankhd1
|
UTSW |
18 |
36,780,361 (GRCm39) |
missense |
probably benign |
0.17 |
R1856:Ankhd1
|
UTSW |
18 |
36,777,580 (GRCm39) |
missense |
probably benign |
0.00 |
R1923:Ankhd1
|
UTSW |
18 |
36,781,083 (GRCm39) |
missense |
probably benign |
0.08 |
R2044:Ankhd1
|
UTSW |
18 |
36,778,166 (GRCm39) |
missense |
probably benign |
0.31 |
R2112:Ankhd1
|
UTSW |
18 |
36,774,679 (GRCm39) |
missense |
probably damaging |
1.00 |
R2115:Ankhd1
|
UTSW |
18 |
36,767,361 (GRCm39) |
missense |
probably damaging |
1.00 |
R2136:Ankhd1
|
UTSW |
18 |
36,780,674 (GRCm39) |
missense |
probably benign |
|
R2196:Ankhd1
|
UTSW |
18 |
36,781,432 (GRCm39) |
missense |
probably damaging |
1.00 |
R2291:Ankhd1
|
UTSW |
18 |
36,777,386 (GRCm39) |
missense |
probably benign |
0.31 |
R2305:Ankhd1
|
UTSW |
18 |
36,775,979 (GRCm39) |
missense |
possibly damaging |
0.59 |
R2309:Ankhd1
|
UTSW |
18 |
36,757,818 (GRCm39) |
missense |
probably damaging |
1.00 |
R2519:Ankhd1
|
UTSW |
18 |
36,711,596 (GRCm39) |
splice site |
probably null |
|
R2958:Ankhd1
|
UTSW |
18 |
36,767,782 (GRCm39) |
missense |
probably damaging |
1.00 |
R3978:Ankhd1
|
UTSW |
18 |
36,780,666 (GRCm39) |
missense |
probably damaging |
0.96 |
R3980:Ankhd1
|
UTSW |
18 |
36,780,666 (GRCm39) |
missense |
probably damaging |
0.96 |
R4159:Ankhd1
|
UTSW |
18 |
36,722,593 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4199:Ankhd1
|
UTSW |
18 |
36,794,101 (GRCm39) |
unclassified |
probably benign |
|
R4323:Ankhd1
|
UTSW |
18 |
36,711,686 (GRCm39) |
missense |
probably damaging |
1.00 |
R4356:Ankhd1
|
UTSW |
18 |
36,776,096 (GRCm39) |
nonsense |
probably null |
|
R4496:Ankhd1
|
UTSW |
18 |
36,693,839 (GRCm39) |
missense |
probably damaging |
0.98 |
R4551:Ankhd1
|
UTSW |
18 |
36,788,560 (GRCm39) |
splice site |
probably null |
|
R4590:Ankhd1
|
UTSW |
18 |
36,716,697 (GRCm39) |
missense |
probably damaging |
1.00 |
R4667:Ankhd1
|
UTSW |
18 |
36,781,074 (GRCm39) |
missense |
possibly damaging |
0.77 |
R4889:Ankhd1
|
UTSW |
18 |
36,711,787 (GRCm39) |
missense |
probably null |
0.00 |
R4923:Ankhd1
|
UTSW |
18 |
36,722,505 (GRCm39) |
missense |
probably damaging |
1.00 |
R5091:Ankhd1
|
UTSW |
18 |
36,758,080 (GRCm39) |
missense |
possibly damaging |
0.68 |
R5254:Ankhd1
|
UTSW |
18 |
36,789,768 (GRCm39) |
missense |
probably benign |
0.05 |
R5314:Ankhd1
|
UTSW |
18 |
36,694,111 (GRCm39) |
splice site |
probably null |
|
R5336:Ankhd1
|
UTSW |
18 |
36,779,769 (GRCm39) |
missense |
probably damaging |
1.00 |
R5367:Ankhd1
|
UTSW |
18 |
36,722,461 (GRCm39) |
missense |
probably damaging |
1.00 |
R5384:Ankhd1
|
UTSW |
18 |
36,724,548 (GRCm39) |
missense |
probably damaging |
1.00 |
R5385:Ankhd1
|
UTSW |
18 |
36,724,548 (GRCm39) |
missense |
probably damaging |
1.00 |
R5387:Ankhd1
|
UTSW |
18 |
36,767,697 (GRCm39) |
missense |
probably damaging |
1.00 |
R5458:Ankhd1
|
UTSW |
18 |
36,781,538 (GRCm39) |
missense |
probably benign |
0.01 |
R5599:Ankhd1
|
UTSW |
18 |
36,693,860 (GRCm39) |
missense |
probably damaging |
0.98 |
R5659:Ankhd1
|
UTSW |
18 |
36,694,103 (GRCm39) |
missense |
probably damaging |
1.00 |
R5750:Ankhd1
|
UTSW |
18 |
36,757,955 (GRCm39) |
missense |
probably benign |
0.00 |
R5874:Ankhd1
|
UTSW |
18 |
36,773,322 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5894:Ankhd1
|
UTSW |
18 |
36,780,577 (GRCm39) |
missense |
probably damaging |
0.99 |
R5969:Ankhd1
|
UTSW |
18 |
36,733,887 (GRCm39) |
missense |
probably damaging |
1.00 |
R6133:Ankhd1
|
UTSW |
18 |
36,758,179 (GRCm39) |
missense |
possibly damaging |
0.77 |
R6190:Ankhd1
|
UTSW |
18 |
36,744,862 (GRCm39) |
missense |
possibly damaging |
0.84 |
R6247:Ankhd1
|
UTSW |
18 |
36,787,199 (GRCm39) |
missense |
probably benign |
0.00 |
R6512:Ankhd1
|
UTSW |
18 |
36,724,509 (GRCm39) |
missense |
probably damaging |
1.00 |
R6649:Ankhd1
|
UTSW |
18 |
36,733,836 (GRCm39) |
splice site |
probably null |
|
R6653:Ankhd1
|
UTSW |
18 |
36,733,836 (GRCm39) |
splice site |
probably null |
|
R6763:Ankhd1
|
UTSW |
18 |
36,776,022 (GRCm39) |
missense |
probably benign |
0.31 |
R6976:Ankhd1
|
UTSW |
18 |
36,781,307 (GRCm39) |
missense |
probably benign |
0.00 |
R7075:Ankhd1
|
UTSW |
18 |
36,693,042 (GRCm39) |
missense |
|
|
R7208:Ankhd1
|
UTSW |
18 |
36,758,081 (GRCm39) |
missense |
probably benign |
|
R7305:Ankhd1
|
UTSW |
18 |
36,765,258 (GRCm39) |
missense |
|
|
R7615:Ankhd1
|
UTSW |
18 |
36,789,826 (GRCm39) |
missense |
|
|
R7654:Ankhd1
|
UTSW |
18 |
36,727,154 (GRCm39) |
missense |
probably damaging |
1.00 |
R7781:Ankhd1
|
UTSW |
18 |
36,758,258 (GRCm39) |
missense |
probably damaging |
1.00 |
R7842:Ankhd1
|
UTSW |
18 |
36,780,881 (GRCm39) |
missense |
probably benign |
0.00 |
R7965:Ankhd1
|
UTSW |
18 |
36,791,465 (GRCm39) |
missense |
|
|
R8006:Ankhd1
|
UTSW |
18 |
36,781,772 (GRCm39) |
missense |
|
|
R8037:Ankhd1
|
UTSW |
18 |
36,771,676 (GRCm39) |
missense |
probably damaging |
0.98 |
R8123:Ankhd1
|
UTSW |
18 |
36,708,136 (GRCm39) |
missense |
|
|
R8195:Ankhd1
|
UTSW |
18 |
36,787,230 (GRCm39) |
missense |
|
|
R8305:Ankhd1
|
UTSW |
18 |
36,780,219 (GRCm39) |
missense |
possibly damaging |
0.79 |
R8708:Ankhd1
|
UTSW |
18 |
36,727,344 (GRCm39) |
missense |
probably damaging |
1.00 |
R8827:Ankhd1
|
UTSW |
18 |
36,757,633 (GRCm39) |
nonsense |
probably null |
|
R9138:Ankhd1
|
UTSW |
18 |
36,693,961 (GRCm39) |
small deletion |
probably benign |
|
R9139:Ankhd1
|
UTSW |
18 |
36,711,810 (GRCm39) |
missense |
|
|
R9186:Ankhd1
|
UTSW |
18 |
36,767,383 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9245:Ankhd1
|
UTSW |
18 |
36,788,653 (GRCm39) |
missense |
|
|
R9254:Ankhd1
|
UTSW |
18 |
36,777,680 (GRCm39) |
missense |
probably benign |
0.03 |
R9262:Ankhd1
|
UTSW |
18 |
36,765,799 (GRCm39) |
missense |
|
|
R9379:Ankhd1
|
UTSW |
18 |
36,777,680 (GRCm39) |
missense |
probably benign |
0.03 |
R9436:Ankhd1
|
UTSW |
18 |
36,774,654 (GRCm39) |
missense |
probably benign |
0.04 |
R9436:Ankhd1
|
UTSW |
18 |
36,694,041 (GRCm39) |
missense |
probably benign |
0.39 |
R9541:Ankhd1
|
UTSW |
18 |
36,757,697 (GRCm39) |
missense |
|
|
R9584:Ankhd1
|
UTSW |
18 |
36,798,504 (GRCm39) |
missense |
probably benign |
0.06 |
R9664:Ankhd1
|
UTSW |
18 |
36,780,878 (GRCm39) |
missense |
probably benign |
0.03 |
RF001:Ankhd1
|
UTSW |
18 |
36,693,974 (GRCm39) |
small insertion |
probably benign |
|
RF004:Ankhd1
|
UTSW |
18 |
36,693,963 (GRCm39) |
small insertion |
probably benign |
|
RF007:Ankhd1
|
UTSW |
18 |
36,693,962 (GRCm39) |
small insertion |
probably benign |
|
RF008:Ankhd1
|
UTSW |
18 |
36,693,977 (GRCm39) |
small insertion |
probably benign |
|
RF009:Ankhd1
|
UTSW |
18 |
36,693,975 (GRCm39) |
small insertion |
probably benign |
|
RF013:Ankhd1
|
UTSW |
18 |
36,693,979 (GRCm39) |
small insertion |
probably benign |
|
RF016:Ankhd1
|
UTSW |
18 |
36,693,963 (GRCm39) |
small insertion |
probably benign |
|
RF016:Ankhd1
|
UTSW |
18 |
36,693,962 (GRCm39) |
small insertion |
probably benign |
|
RF017:Ankhd1
|
UTSW |
18 |
36,693,962 (GRCm39) |
small insertion |
probably benign |
|
RF018:Ankhd1
|
UTSW |
18 |
36,693,965 (GRCm39) |
small insertion |
probably benign |
|
RF026:Ankhd1
|
UTSW |
18 |
36,693,965 (GRCm39) |
small insertion |
probably benign |
|
RF030:Ankhd1
|
UTSW |
18 |
36,693,980 (GRCm39) |
small insertion |
probably benign |
|
RF030:Ankhd1
|
UTSW |
18 |
36,693,966 (GRCm39) |
small insertion |
probably benign |
|
RF039:Ankhd1
|
UTSW |
18 |
36,693,971 (GRCm39) |
small insertion |
probably benign |
|
RF043:Ankhd1
|
UTSW |
18 |
36,693,970 (GRCm39) |
small insertion |
probably benign |
|
RF046:Ankhd1
|
UTSW |
18 |
36,693,979 (GRCm39) |
small insertion |
probably benign |
|
RF047:Ankhd1
|
UTSW |
18 |
36,693,976 (GRCm39) |
small insertion |
probably benign |
|
RF047:Ankhd1
|
UTSW |
18 |
36,693,970 (GRCm39) |
small insertion |
probably benign |
|
RF049:Ankhd1
|
UTSW |
18 |
36,693,976 (GRCm39) |
small insertion |
probably benign |
|
RF050:Ankhd1
|
UTSW |
18 |
36,693,980 (GRCm39) |
small insertion |
probably benign |
|
RF054:Ankhd1
|
UTSW |
18 |
36,693,982 (GRCm39) |
small insertion |
probably benign |
|
RF057:Ankhd1
|
UTSW |
18 |
36,693,982 (GRCm39) |
small insertion |
probably benign |
|
RF060:Ankhd1
|
UTSW |
18 |
36,693,975 (GRCm39) |
small insertion |
probably benign |
|
RF061:Ankhd1
|
UTSW |
18 |
36,693,974 (GRCm39) |
small insertion |
probably benign |
|
RF062:Ankhd1
|
UTSW |
18 |
36,693,971 (GRCm39) |
small insertion |
probably benign |
|
X0027:Ankhd1
|
UTSW |
18 |
36,757,885 (GRCm39) |
missense |
probably damaging |
1.00 |
X0065:Ankhd1
|
UTSW |
18 |
36,711,817 (GRCm39) |
nonsense |
probably null |
|
X0066:Ankhd1
|
UTSW |
18 |
36,779,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- aatgcaccactgTGGCAGCCTACT -3'
(R):5'- GCTGGGACTGAACTCATGGCCTTTT -3'
Sequencing Primer
(F):5'- tgTGGCAGCCTACTGCTTG -3'
(R):5'- ATGGCCTTTTTGCCACTGAATG -3'
|
Posted On |
2013-07-11 |