Incidental Mutation 'R4667:Ankhd1'
| ID |
352094 |
| 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 |
042012-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4667 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
36693656-36791961 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 36781074 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 2042
(P2042Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120290
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006205]
[ENSMUST00000142977]
[ENSMUST00000155329]
|
| AlphaFold |
E9PUR0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000006205
AA Change: P2042Q
PolyPhen 2
Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000006205
Gene: ENSMUSG00000024483
AA Change: P2042Q
| 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 |
unknown
Transcript: ENSMUST00000037072
AA Change: P531Q
|
| SMART Domains |
Protein: ENSMUSP00000040300
Gene: ENSMUSG00000024483
AA Change: P531Q
| 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 |
unknown
Transcript: ENSMUST00000140061
AA Change: P54Q
|
| SMART Domains |
Protein: ENSMUSP00000121811
Gene: ENSMUSG00000024483
AA Change: P54Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
54 |
70 |
N/A |
INTRINSIC |
|
low complexity region
|
77 |
94 |
N/A |
INTRINSIC |
|
low complexity region
|
355 |
375 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000142977
AA Change: P2042Q
PolyPhen 2
Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000120290
Gene: ENSMUSG00000024483
AA Change: P2042Q
| 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 benign
Transcript: ENSMUST00000155329
AA Change: P2042Q
PolyPhen 2
Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000123270
Gene: ENSMUSG00000024483
AA Change: P2042Q
| 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: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 109 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad8 |
A |
G |
9: 26,901,923 (GRCm39) |
L147P |
probably damaging |
Het |
| Adgra3 |
T |
A |
5: 50,136,298 (GRCm39) |
Y729F |
possibly damaging |
Het |
| Ago2 |
A |
G |
15: 73,018,265 (GRCm39) |
Y58H |
probably damaging |
Het |
| Akap13 |
A |
G |
7: 75,378,842 (GRCm39) |
T2128A |
probably damaging |
Het |
| Arhgef15 |
T |
C |
11: 68,845,387 (GRCm39) |
K155R |
probably benign |
Het |
| Atp10b |
T |
C |
11: 43,138,345 (GRCm39) |
F1209L |
probably damaging |
Het |
| B130006D01Rik |
A |
T |
11: 95,617,335 (GRCm39) |
|
probably benign |
Het |
| Bmpr2 |
T |
C |
1: 59,906,875 (GRCm39) |
L656S |
probably damaging |
Het |
| Bnip5 |
G |
T |
17: 29,127,287 (GRCm39) |
Q241K |
possibly damaging |
Het |
| Btbd17 |
A |
G |
11: 114,684,683 (GRCm39) |
F119L |
possibly damaging |
Het |
| Ccdc191 |
G |
T |
16: 43,751,646 (GRCm39) |
K267N |
probably damaging |
Het |
| Cd200l1 |
A |
G |
16: 45,264,526 (GRCm39) |
S11P |
probably benign |
Het |
| Ceacam20 |
T |
C |
7: 19,719,952 (GRCm39) |
Y495H |
probably damaging |
Het |
| Celf2 |
T |
C |
2: 6,726,339 (GRCm39) |
I47V |
probably benign |
Het |
| Cemip2 |
G |
A |
19: 21,774,715 (GRCm39) |
R119H |
probably benign |
Het |
| Cemip2 |
C |
T |
19: 21,822,145 (GRCm39) |
A1180V |
probably benign |
Het |
| Chd9 |
T |
C |
8: 91,760,428 (GRCm39) |
S2058P |
possibly damaging |
Het |
| Clcn6 |
T |
C |
4: 148,108,624 (GRCm39) |
E135G |
possibly damaging |
Het |
| Cntn1 |
T |
A |
15: 92,192,960 (GRCm39) |
N687K |
probably damaging |
Het |
| Col1a2 |
A |
T |
6: 4,512,412 (GRCm39) |
M99L |
unknown |
Het |
| Cpeb2 |
T |
C |
5: 43,391,235 (GRCm39) |
|
probably benign |
Het |
| Csn1s2b |
A |
G |
5: 87,970,170 (GRCm39) |
T134A |
possibly damaging |
Het |
| Cst13 |
A |
T |
2: 148,665,001 (GRCm39) |
|
probably benign |
Het |
| Cyp2c66 |
T |
A |
19: 39,165,100 (GRCm39) |
D360E |
probably damaging |
Het |
| Dhx8 |
A |
G |
11: 101,628,987 (GRCm39) |
S179G |
unknown |
Het |
| Dip2b |
A |
G |
15: 100,049,241 (GRCm39) |
I212V |
probably benign |
Het |
| Dnah9 |
G |
A |
11: 66,046,357 (GRCm39) |
H64Y |
probably benign |
Het |
| Dnal1 |
T |
C |
12: 84,183,474 (GRCm39) |
|
probably benign |
Het |
| Dse |
T |
G |
10: 34,029,008 (GRCm39) |
Y694S |
probably damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,051,411 (GRCm39) |
I3175V |
probably benign |
Het |
| Elf5 |
A |
G |
2: 103,279,405 (GRCm39) |
N209D |
probably damaging |
Het |
| Elovl1 |
A |
G |
4: 118,287,984 (GRCm39) |
Y40C |
probably damaging |
Het |
| Erp27 |
T |
C |
6: 136,885,150 (GRCm39) |
E216G |
possibly damaging |
Het |
| F5 |
G |
A |
1: 164,001,755 (GRCm39) |
V153I |
probably benign |
Het |
| Fam186a |
G |
A |
15: 99,842,413 (GRCm39) |
T1277I |
possibly damaging |
Het |
| Fam90a1a |
A |
T |
8: 22,453,362 (GRCm39) |
H239L |
possibly damaging |
Het |
| Fchsd2 |
G |
T |
7: 100,899,656 (GRCm39) |
R334L |
probably damaging |
Het |
| Fermt3 |
T |
C |
19: 6,980,288 (GRCm39) |
Y369C |
probably damaging |
Het |
| Fhod3 |
C |
T |
18: 25,199,395 (GRCm39) |
P689S |
probably benign |
Het |
| Fnbp1l |
G |
T |
3: 122,350,216 (GRCm39) |
Q332K |
probably benign |
Het |
| Frem3 |
T |
C |
8: 81,390,049 (GRCm39) |
S1767P |
probably damaging |
Het |
| Ggt5 |
T |
C |
10: 75,438,865 (GRCm39) |
L121P |
probably damaging |
Het |
| Gphn |
T |
C |
12: 78,501,591 (GRCm39) |
S119P |
probably damaging |
Het |
| Herc2 |
A |
G |
7: 55,781,001 (GRCm39) |
D1222G |
probably damaging |
Het |
| Hmx3 |
T |
C |
7: 131,146,111 (GRCm39) |
I273T |
possibly damaging |
Het |
| Hnrnpu |
A |
G |
1: 178,159,746 (GRCm39) |
|
probably benign |
Het |
| Hspg2 |
C |
T |
4: 137,266,956 (GRCm39) |
T1987I |
possibly damaging |
Het |
| Ighv1-22 |
T |
A |
12: 114,710,071 (GRCm39) |
Q58L |
probably damaging |
Het |
| Ighv14-3 |
T |
A |
12: 114,023,875 (GRCm39) |
I7F |
probably benign |
Het |
| Kcns3 |
C |
A |
12: 11,141,784 (GRCm39) |
R305L |
probably damaging |
Het |
| Kcnu1 |
C |
T |
8: 26,400,949 (GRCm39) |
A699V |
possibly damaging |
Het |
| Kif22 |
A |
C |
7: 126,632,500 (GRCm39) |
L270W |
probably damaging |
Het |
| Lrp2 |
G |
T |
2: 69,319,642 (GRCm39) |
H1960Q |
probably benign |
Het |
| Marchf7 |
C |
T |
2: 60,071,394 (GRCm39) |
Q94* |
probably null |
Het |
| Mcoln3 |
A |
T |
3: 145,836,959 (GRCm39) |
I264F |
probably benign |
Het |
| Mdn1 |
A |
C |
4: 32,679,572 (GRCm39) |
T706P |
probably damaging |
Het |
| Mfsd2b |
A |
G |
12: 4,917,636 (GRCm39) |
C137R |
probably benign |
Het |
| Mmp25 |
A |
G |
17: 23,863,581 (GRCm39) |
V83A |
probably benign |
Het |
| Mocos |
T |
C |
18: 24,799,491 (GRCm39) |
Y242H |
probably benign |
Het |
| Msh6 |
T |
C |
17: 88,292,234 (GRCm39) |
S330P |
possibly damaging |
Het |
| Mtus2 |
T |
C |
5: 148,235,070 (GRCm39) |
S1156P |
possibly damaging |
Het |
| Muc5b |
G |
A |
7: 141,396,116 (GRCm39) |
R124H |
unknown |
Het |
| Mybbp1a |
G |
A |
11: 72,338,797 (GRCm39) |
E775K |
possibly damaging |
Het |
| Myo10 |
A |
G |
15: 25,793,239 (GRCm39) |
E1272G |
possibly damaging |
Het |
| Nars1 |
A |
G |
18: 64,638,302 (GRCm39) |
S254P |
possibly damaging |
Het |
| Ncapd2 |
A |
G |
6: 125,161,481 (GRCm39) |
I211T |
possibly damaging |
Het |
| Ncoa7 |
A |
T |
10: 30,566,786 (GRCm39) |
W582R |
probably damaging |
Het |
| Npr3 |
T |
A |
15: 11,905,553 (GRCm39) |
D58V |
possibly damaging |
Het |
| Nr3c1 |
G |
T |
18: 39,561,780 (GRCm39) |
T430K |
probably benign |
Het |
| Odf2l |
A |
G |
3: 144,833,801 (GRCm39) |
T111A |
probably benign |
Het |
| Ogdh |
G |
T |
11: 6,290,600 (GRCm39) |
C406F |
probably benign |
Het |
| Olfml2a |
T |
G |
2: 38,839,022 (GRCm39) |
S190A |
probably damaging |
Het |
| Optn |
T |
C |
2: 5,037,950 (GRCm39) |
K415E |
probably benign |
Het |
| Or10n1 |
T |
C |
9: 39,525,034 (GRCm39) |
M57T |
probably damaging |
Het |
| Or52a20 |
A |
G |
7: 103,365,845 (GRCm39) |
T15A |
probably benign |
Het |
| Or8b12i |
T |
C |
9: 20,082,394 (GRCm39) |
I158V |
probably benign |
Het |
| Or8g52 |
G |
T |
9: 39,631,005 (GRCm39) |
V161F |
probably benign |
Het |
| Pakap |
A |
T |
4: 57,855,655 (GRCm39) |
D328V |
possibly damaging |
Het |
| Perm1 |
C |
A |
4: 156,304,663 (GRCm39) |
S803* |
probably null |
Het |
| Pex14 |
T |
C |
4: 149,068,542 (GRCm39) |
T84A |
probably benign |
Het |
| Pih1d2 |
T |
A |
9: 50,532,252 (GRCm39) |
Y103* |
probably null |
Het |
| Pikfyve |
T |
A |
1: 65,289,432 (GRCm39) |
C1235S |
probably damaging |
Het |
| Polr1a |
A |
G |
6: 71,894,805 (GRCm39) |
N171S |
probably benign |
Het |
| Prrx1 |
A |
G |
1: 163,081,616 (GRCm39) |
S201P |
probably benign |
Het |
| Psme2b |
A |
T |
11: 48,836,493 (GRCm39) |
N151K |
probably benign |
Het |
| Serpinb5 |
A |
T |
1: 106,800,025 (GRCm39) |
T72S |
probably benign |
Het |
| Sgsm1 |
A |
G |
5: 113,407,913 (GRCm39) |
|
probably null |
Het |
| Sipa1l2 |
T |
C |
8: 126,180,209 (GRCm39) |
R1063G |
possibly damaging |
Het |
| Slc19a3 |
T |
C |
1: 83,000,520 (GRCm39) |
T166A |
probably benign |
Het |
| Slc5a4b |
T |
C |
10: 75,910,879 (GRCm39) |
Y319C |
possibly damaging |
Het |
| Stard3nl |
T |
A |
13: 19,560,689 (GRCm39) |
N29Y |
probably damaging |
Het |
| Sult6b2 |
G |
T |
6: 142,747,421 (GRCm39) |
C109* |
probably null |
Het |
| Tcf25 |
A |
G |
8: 124,123,764 (GRCm39) |
E467G |
possibly damaging |
Het |
| Tmem177 |
A |
T |
1: 119,837,950 (GRCm39) |
V243D |
probably benign |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Tspan11 |
T |
A |
6: 127,920,678 (GRCm39) |
C208* |
probably null |
Het |
| Ttc1 |
A |
G |
11: 43,636,144 (GRCm39) |
V33A |
probably benign |
Het |
| Tut4 |
G |
A |
4: 108,352,356 (GRCm39) |
E357K |
probably damaging |
Het |
| Uck1 |
T |
A |
2: 32,146,046 (GRCm39) |
H283L |
probably damaging |
Het |
| Utrn |
A |
C |
10: 12,573,797 (GRCm39) |
V1091G |
probably benign |
Het |
| Vmn1r11 |
A |
T |
6: 57,114,483 (GRCm39) |
H49L |
probably damaging |
Het |
| Vmn1r160 |
G |
T |
7: 22,571,478 (GRCm39) |
S277I |
probably benign |
Het |
| Vmn1r18 |
A |
T |
6: 57,367,069 (GRCm39) |
S162T |
probably benign |
Het |
| Vps37b |
A |
G |
5: 124,148,795 (GRCm39) |
L80P |
probably damaging |
Het |
| Wfdc3 |
T |
C |
2: 164,585,006 (GRCm39) |
M1V |
probably null |
Het |
| Wrn |
A |
T |
8: 33,814,366 (GRCm39) |
N116K |
probably benign |
Het |
| Wscd2 |
G |
T |
5: 113,715,333 (GRCm39) |
G391V |
probably damaging |
Het |
| Zfp286 |
A |
G |
11: 62,671,428 (GRCm39) |
V215A |
probably benign |
Het |
| Zfp568 |
A |
G |
7: 29,722,702 (GRCm39) |
H549R |
probably damaging |
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 |
|
R0607: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 |
|
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'- TTCCTCCGTGACAAGCACTAG -3'
(R):5'- GGGTGATGCCAAAGTCAATG -3'
Sequencing Primer
(F):5'- CGTGACAAGCACTAGTAGTTCCTTG -3'
(R):5'- CCAAAGTCAATGGAGCAGTTTCTG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation