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 |
|
| 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 |
36559987-36665917 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 36648021 bp (GRCm38)
|
| 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 |
|---|
| 4930539E08Rik |
G |
T |
17: 28,908,313 |
Q241K |
possibly damaging |
Het |
| Acad8 |
A |
G |
9: 26,990,627 |
L147P |
probably damaging |
Het |
| Adgra3 |
T |
A |
5: 49,978,956 |
Y729F |
possibly damaging |
Het |
| Ago2 |
A |
G |
15: 73,146,416 |
Y58H |
probably damaging |
Het |
| Akap13 |
A |
G |
7: 75,729,094 |
T2128A |
probably damaging |
Het |
| Akap2 |
A |
T |
4: 57,855,655 |
D328V |
possibly damaging |
Het |
| Arhgef15 |
T |
C |
11: 68,954,561 |
K155R |
probably benign |
Het |
| Atp10b |
T |
C |
11: 43,247,518 |
F1209L |
probably damaging |
Het |
| B130006D01Rik |
A |
T |
11: 95,726,509 |
|
probably benign |
Het |
| Bmpr2 |
T |
C |
1: 59,867,716 |
L656S |
probably damaging |
Het |
| Btbd17 |
A |
G |
11: 114,793,857 |
F119L |
possibly damaging |
Het |
| Ccdc191 |
G |
T |
16: 43,931,283 |
K267N |
probably damaging |
Het |
| Ceacam20 |
T |
C |
7: 19,986,027 |
Y495H |
probably damaging |
Het |
| Celf2 |
T |
C |
2: 6,721,528 |
I47V |
probably benign |
Het |
| Chd9 |
T |
C |
8: 91,033,800 |
S2058P |
possibly damaging |
Het |
| Clcn6 |
T |
C |
4: 148,024,167 |
E135G |
possibly damaging |
Het |
| Cntn1 |
T |
A |
15: 92,295,079 |
N687K |
probably damaging |
Het |
| Col1a2 |
A |
T |
6: 4,512,412 |
M99L |
unknown |
Het |
| Cpeb2 |
T |
C |
5: 43,233,892 |
|
probably benign |
Het |
| Csn1s2b |
A |
G |
5: 87,822,311 |
T134A |
possibly damaging |
Het |
| Cst13 |
A |
T |
2: 148,823,081 |
|
probably benign |
Het |
| Cyp2c66 |
T |
A |
19: 39,176,656 |
D360E |
probably damaging |
Het |
| Dhx8 |
A |
G |
11: 101,738,161 |
S179G |
unknown |
Het |
| Dip2b |
A |
G |
15: 100,151,360 |
I212V |
probably benign |
Het |
| Dnah9 |
G |
A |
11: 66,155,531 |
H64Y |
probably benign |
Het |
| Dnal1 |
T |
C |
12: 84,136,700 |
|
probably benign |
Het |
| Dse |
T |
G |
10: 34,153,012 |
Y694S |
probably damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,051,411 |
I3175V |
probably benign |
Het |
| Elf5 |
A |
G |
2: 103,449,060 |
N209D |
probably damaging |
Het |
| Elovl1 |
A |
G |
4: 118,430,787 |
Y40C |
probably damaging |
Het |
| Erp27 |
T |
C |
6: 136,908,152 |
E216G |
possibly damaging |
Het |
| F5 |
G |
A |
1: 164,174,186 |
V153I |
probably benign |
Het |
| Fam186a |
G |
A |
15: 99,944,532 |
T1277I |
possibly damaging |
Het |
| Fam90a1a |
A |
T |
8: 21,963,346 |
H239L |
possibly damaging |
Het |
| Fchsd2 |
G |
T |
7: 101,250,449 |
R334L |
probably damaging |
Het |
| Fermt3 |
T |
C |
19: 7,002,920 |
Y369C |
probably damaging |
Het |
| Fhod3 |
C |
T |
18: 25,066,338 |
P689S |
probably benign |
Het |
| Fnbp1l |
G |
T |
3: 122,556,567 |
Q332K |
probably benign |
Het |
| Frem3 |
T |
C |
8: 80,663,420 |
S1767P |
probably damaging |
Het |
| Ggt5 |
T |
C |
10: 75,603,031 |
L121P |
probably damaging |
Het |
| Gm609 |
A |
G |
16: 45,444,163 |
S11P |
probably benign |
Het |
| Gphn |
T |
C |
12: 78,454,817 |
S119P |
probably damaging |
Het |
| Herc2 |
A |
G |
7: 56,131,253 |
D1222G |
probably damaging |
Het |
| Hmx3 |
T |
C |
7: 131,544,382 |
I273T |
possibly damaging |
Het |
| Hnrnpu |
A |
G |
1: 178,332,181 |
|
probably benign |
Het |
| Hspg2 |
C |
T |
4: 137,539,645 |
T1987I |
possibly damaging |
Het |
| Ighv1-22 |
T |
A |
12: 114,746,451 |
Q58L |
probably damaging |
Het |
| Ighv14-3 |
T |
A |
12: 114,060,255 |
I7F |
probably benign |
Het |
| Kcns3 |
C |
A |
12: 11,091,783 |
R305L |
probably damaging |
Het |
| Kcnu1 |
C |
T |
8: 25,910,921 |
A699V |
possibly damaging |
Het |
| Kif22 |
A |
C |
7: 127,033,328 |
L270W |
probably damaging |
Het |
| Lrp2 |
G |
T |
2: 69,489,298 |
H1960Q |
probably benign |
Het |
| March7 |
C |
T |
2: 60,241,050 |
Q94* |
probably null |
Het |
| Mcoln3 |
A |
T |
3: 146,131,204 |
I264F |
probably benign |
Het |
| Mdn1 |
A |
C |
4: 32,679,572 |
T706P |
probably damaging |
Het |
| Mfsd2b |
A |
G |
12: 4,867,636 |
C137R |
probably benign |
Het |
| Mmp25 |
A |
G |
17: 23,644,607 |
V83A |
probably benign |
Het |
| Mocos |
T |
C |
18: 24,666,434 |
Y242H |
probably benign |
Het |
| Msh6 |
T |
C |
17: 87,984,806 |
S330P |
possibly damaging |
Het |
| Mtus2 |
T |
C |
5: 148,298,260 |
S1156P |
possibly damaging |
Het |
| Muc5b |
G |
A |
7: 141,842,379 |
R124H |
unknown |
Het |
| Mybbp1a |
G |
A |
11: 72,447,971 |
E775K |
possibly damaging |
Het |
| Myo10 |
A |
G |
15: 25,793,153 |
E1272G |
possibly damaging |
Het |
| Nars |
A |
G |
18: 64,505,231 |
S254P |
possibly damaging |
Het |
| Ncapd2 |
A |
G |
6: 125,184,518 |
I211T |
possibly damaging |
Het |
| Ncoa7 |
A |
T |
10: 30,690,790 |
W582R |
probably damaging |
Het |
| Npr3 |
T |
A |
15: 11,905,467 |
D58V |
possibly damaging |
Het |
| Nr3c1 |
G |
T |
18: 39,428,727 |
T430K |
probably benign |
Het |
| Odf2l |
A |
G |
3: 145,128,040 |
T111A |
probably benign |
Het |
| Ogdh |
G |
T |
11: 6,340,600 |
C406F |
probably benign |
Het |
| Olfml2a |
T |
G |
2: 38,949,010 |
S190A |
probably damaging |
Het |
| Olfr148 |
T |
C |
9: 39,613,738 |
M57T |
probably damaging |
Het |
| Olfr243 |
A |
G |
7: 103,716,638 |
T15A |
probably benign |
Het |
| Olfr870 |
T |
C |
9: 20,171,098 |
I158V |
probably benign |
Het |
| Olfr965 |
G |
T |
9: 39,719,709 |
V161F |
probably benign |
Het |
| Optn |
T |
C |
2: 5,033,139 |
K415E |
probably benign |
Het |
| Perm1 |
C |
A |
4: 156,220,206 |
S803* |
probably null |
Het |
| Pex14 |
T |
C |
4: 148,984,085 |
T84A |
probably benign |
Het |
| Pih1d2 |
T |
A |
9: 50,620,952 |
Y103* |
probably null |
Het |
| Pikfyve |
T |
A |
1: 65,250,273 |
C1235S |
probably damaging |
Het |
| Polr1a |
A |
G |
6: 71,917,821 |
N171S |
probably benign |
Het |
| Prrx1 |
A |
G |
1: 163,254,047 |
S201P |
probably benign |
Het |
| Psme2b |
A |
T |
11: 48,945,666 |
N151K |
probably benign |
Het |
| Serpinb5 |
A |
T |
1: 106,872,295 |
T72S |
probably benign |
Het |
| Sgsm1 |
A |
G |
5: 113,260,047 |
|
probably null |
Het |
| Sipa1l2 |
T |
C |
8: 125,453,470 |
R1063G |
possibly damaging |
Het |
| Slc19a3 |
T |
C |
1: 83,022,799 |
T166A |
probably benign |
Het |
| Slc5a4b |
T |
C |
10: 76,075,045 |
Y319C |
possibly damaging |
Het |
| Stard3nl |
T |
A |
13: 19,376,519 |
N29Y |
probably damaging |
Het |
| Sult6b2 |
G |
T |
6: 142,801,695 |
C109* |
probably null |
Het |
| Tcf25 |
A |
G |
8: 123,397,025 |
E467G |
possibly damaging |
Het |
| Tmem177 |
A |
T |
1: 119,910,220 |
V243D |
probably benign |
Het |
| Tmem2 |
G |
A |
19: 21,797,351 |
R119H |
probably benign |
Het |
| Tmem2 |
C |
T |
19: 21,844,781 |
A1180V |
probably benign |
Het |
| Top2b |
T |
G |
14: 16,409,189 |
I777M |
probably damaging |
Het |
| Tspan11 |
T |
A |
6: 127,943,715 |
C208* |
probably null |
Het |
| Ttc1 |
A |
G |
11: 43,745,317 |
V33A |
probably benign |
Het |
| Uck1 |
T |
A |
2: 32,256,034 |
H283L |
probably damaging |
Het |
| Utrn |
A |
C |
10: 12,698,053 |
V1091G |
probably benign |
Het |
| Vmn1r11 |
A |
T |
6: 57,137,498 |
H49L |
probably damaging |
Het |
| Vmn1r160 |
G |
T |
7: 22,872,053 |
S277I |
probably benign |
Het |
| Vmn1r18 |
A |
T |
6: 57,390,084 |
S162T |
probably benign |
Het |
| Vps37b |
A |
G |
5: 124,010,732 |
L80P |
probably damaging |
Het |
| Wfdc3 |
T |
C |
2: 164,743,086 |
M1V |
probably null |
Het |
| Wrn |
A |
T |
8: 33,324,338 |
N116K |
probably benign |
Het |
| Wscd2 |
G |
T |
5: 113,577,272 |
G391V |
probably damaging |
Het |
| Zcchc11 |
G |
A |
4: 108,495,159 |
E357K |
probably damaging |
Het |
| Zfp286 |
A |
G |
11: 62,780,602 |
V215A |
probably benign |
Het |
| Zfp568 |
A |
G |
7: 30,023,277 |
H549R |
probably damaging |
Het |
|
| Other mutations in Ankhd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00088:Ankhd1
|
APN |
18 |
36,665,459 (GRCm38) |
unclassified |
probably benign |
|
|
IGL00927:Ankhd1
|
APN |
18 |
36,632,072 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01367:Ankhd1
|
APN |
18 |
36,578,643 (GRCm38) |
missense |
probably benign |
0.16 |
|
IGL01624:Ankhd1
|
APN |
18 |
36,658,013 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01725:Ankhd1
|
APN |
18 |
36,648,153 (GRCm38) |
missense |
probably benign |
0.04 |
|
IGL01767:Ankhd1
|
APN |
18 |
36,648,374 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02005:Ankhd1
|
APN |
18 |
36,648,426 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02009:Ankhd1
|
APN |
18 |
36,624,661 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02246:Ankhd1
|
APN |
18 |
36,656,726 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02336:Ankhd1
|
APN |
18 |
36,594,814 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL02628:Ankhd1
|
APN |
18 |
36,647,703 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02644:Ankhd1
|
APN |
18 |
36,578,775 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02735:Ankhd1
|
APN |
18 |
36,648,546 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02877:Ankhd1
|
APN |
18 |
36,594,823 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03129:Ankhd1
|
APN |
18 |
36,658,008 (GRCm38) |
nonsense |
probably null |
|
|
IGL03163:Ankhd1
|
APN |
18 |
36,647,628 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL03182:Ankhd1
|
APN |
18 |
36,578,774 (GRCm38) |
missense |
probably benign |
0.06 |
|
IGL03184:Ankhd1
|
APN |
18 |
36,647,777 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03398:Ankhd1
|
APN |
18 |
36,656,837 (GRCm38) |
splice site |
probably benign |
|
|
FR4304:Ankhd1
|
UTSW |
18 |
36,560,924 (GRCm38) |
small insertion |
probably benign |
|
|
R0051:Ankhd1
|
UTSW |
18 |
36,647,188 (GRCm38) |
unclassified |
probably benign |
|
|
R0089:Ankhd1
|
UTSW |
18 |
36,640,356 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0105:Ankhd1
|
UTSW |
18 |
36,646,766 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0149:Ankhd1
|
UTSW |
18 |
36,647,214 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0243:Ankhd1
|
UTSW |
18 |
36,634,734 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0322:Ankhd1
|
UTSW |
18 |
36,658,008 (GRCm38) |
nonsense |
probably null |
|
|
R0361:Ankhd1
|
UTSW |
18 |
36,647,214 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0389:Ankhd1
|
UTSW |
18 |
36,644,599 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R0418:Ankhd1
|
UTSW |
18 |
36,634,300 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0443:Ankhd1
|
UTSW |
18 |
36,644,599 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R0540:Ankhd1
|
UTSW |
18 |
36,640,280 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0607:Ankhd1
|
UTSW |
18 |
36,640,280 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0738:Ankhd1
|
UTSW |
18 |
36,645,249 (GRCm38) |
splice site |
probably benign |
|
|
R1127:Ankhd1
|
UTSW |
18 |
36,634,346 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1434:Ankhd1
|
UTSW |
18 |
36,625,159 (GRCm38) |
missense |
probably benign |
0.09 |
|
R1742:Ankhd1
|
UTSW |
18 |
36,625,265 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1776:Ankhd1
|
UTSW |
18 |
36,647,308 (GRCm38) |
missense |
probably benign |
0.17 |
|
R1856:Ankhd1
|
UTSW |
18 |
36,644,527 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1923:Ankhd1
|
UTSW |
18 |
36,648,030 (GRCm38) |
missense |
probably benign |
0.08 |
|
R2044:Ankhd1
|
UTSW |
18 |
36,645,113 (GRCm38) |
missense |
probably benign |
0.31 |
|
R2112:Ankhd1
|
UTSW |
18 |
36,641,626 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2115:Ankhd1
|
UTSW |
18 |
36,634,308 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2136:Ankhd1
|
UTSW |
18 |
36,647,621 (GRCm38) |
missense |
probably benign |
|
|
R2196:Ankhd1
|
UTSW |
18 |
36,648,379 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2291:Ankhd1
|
UTSW |
18 |
36,644,333 (GRCm38) |
missense |
probably benign |
0.31 |
|
R2305:Ankhd1
|
UTSW |
18 |
36,642,926 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
R2309:Ankhd1
|
UTSW |
18 |
36,624,765 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2519:Ankhd1
|
UTSW |
18 |
36,578,543 (GRCm38) |
splice site |
probably null |
|
|
R2958:Ankhd1
|
UTSW |
18 |
36,634,729 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3978:Ankhd1
|
UTSW |
18 |
36,647,613 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R3980:Ankhd1
|
UTSW |
18 |
36,647,613 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R4159:Ankhd1
|
UTSW |
18 |
36,589,540 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R4199:Ankhd1
|
UTSW |
18 |
36,661,048 (GRCm38) |
unclassified |
probably benign |
|
|
R4323:Ankhd1
|
UTSW |
18 |
36,578,633 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4356:Ankhd1
|
UTSW |
18 |
36,643,043 (GRCm38) |
nonsense |
probably null |
|
|
R4496:Ankhd1
|
UTSW |
18 |
36,560,786 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4551:Ankhd1
|
UTSW |
18 |
36,655,507 (GRCm38) |
splice site |
probably null |
|
|
R4590:Ankhd1
|
UTSW |
18 |
36,583,644 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4889:Ankhd1
|
UTSW |
18 |
36,578,734 (GRCm38) |
missense |
probably null |
0.00 |
|
R4923:Ankhd1
|
UTSW |
18 |
36,589,452 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5091:Ankhd1
|
UTSW |
18 |
36,625,027 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R5254:Ankhd1
|
UTSW |
18 |
36,656,715 (GRCm38) |
missense |
probably benign |
0.05 |
|
R5314:Ankhd1
|
UTSW |
18 |
36,561,058 (GRCm38) |
splice site |
probably null |
|
|
R5336:Ankhd1
|
UTSW |
18 |
36,646,716 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5367:Ankhd1
|
UTSW |
18 |
36,589,408 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5384:Ankhd1
|
UTSW |
18 |
36,591,495 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5385:Ankhd1
|
UTSW |
18 |
36,591,495 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5387:Ankhd1
|
UTSW |
18 |
36,634,644 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5458:Ankhd1
|
UTSW |
18 |
36,648,485 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5599:Ankhd1
|
UTSW |
18 |
36,560,807 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5659:Ankhd1
|
UTSW |
18 |
36,561,050 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5750:Ankhd1
|
UTSW |
18 |
36,624,902 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5874:Ankhd1
|
UTSW |
18 |
36,640,269 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5894:Ankhd1
|
UTSW |
18 |
36,647,524 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5969:Ankhd1
|
UTSW |
18 |
36,600,834 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6133:Ankhd1
|
UTSW |
18 |
36,625,126 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R6190:Ankhd1
|
UTSW |
18 |
36,611,809 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R6247:Ankhd1
|
UTSW |
18 |
36,654,146 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6512:Ankhd1
|
UTSW |
18 |
36,591,456 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6649:Ankhd1
|
UTSW |
18 |
36,600,783 (GRCm38) |
splice site |
probably null |
|
|
R6653:Ankhd1
|
UTSW |
18 |
36,600,783 (GRCm38) |
splice site |
probably null |
|
|
R6763:Ankhd1
|
UTSW |
18 |
36,642,969 (GRCm38) |
missense |
probably benign |
0.31 |
|
R6976:Ankhd1
|
UTSW |
18 |
36,648,254 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7075:Ankhd1
|
UTSW |
18 |
36,559,989 (GRCm38) |
missense |
|
|
|
R7208:Ankhd1
|
UTSW |
18 |
36,625,028 (GRCm38) |
missense |
probably benign |
|
|
R7305:Ankhd1
|
UTSW |
18 |
36,632,205 (GRCm38) |
missense |
|
|
|
R7615:Ankhd1
|
UTSW |
18 |
36,656,773 (GRCm38) |
missense |
|
|
|
R7654:Ankhd1
|
UTSW |
18 |
36,594,101 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7781:Ankhd1
|
UTSW |
18 |
36,625,205 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7842:Ankhd1
|
UTSW |
18 |
36,647,828 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7965:Ankhd1
|
UTSW |
18 |
36,658,412 (GRCm38) |
missense |
|
|
|
R8006:Ankhd1
|
UTSW |
18 |
36,648,719 (GRCm38) |
missense |
|
|
|
R8037:Ankhd1
|
UTSW |
18 |
36,638,623 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8123:Ankhd1
|
UTSW |
18 |
36,575,083 (GRCm38) |
missense |
|
|
|
R8195:Ankhd1
|
UTSW |
18 |
36,654,177 (GRCm38) |
missense |
|
|
|
R8305:Ankhd1
|
UTSW |
18 |
36,647,166 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R8708:Ankhd1
|
UTSW |
18 |
36,594,291 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8827:Ankhd1
|
UTSW |
18 |
36,624,580 (GRCm38) |
nonsense |
probably null |
|
|
R9138:Ankhd1
|
UTSW |
18 |
36,560,908 (GRCm38) |
small deletion |
probably benign |
|
|
R9139:Ankhd1
|
UTSW |
18 |
36,578,757 (GRCm38) |
missense |
|
|
|
R9186:Ankhd1
|
UTSW |
18 |
36,634,330 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R9245:Ankhd1
|
UTSW |
18 |
36,655,600 (GRCm38) |
missense |
|
|
|
R9254:Ankhd1
|
UTSW |
18 |
36,644,627 (GRCm38) |
missense |
probably benign |
0.03 |
|
R9262:Ankhd1
|
UTSW |
18 |
36,632,746 (GRCm38) |
missense |
|
|
|
R9379:Ankhd1
|
UTSW |
18 |
36,644,627 (GRCm38) |
missense |
probably benign |
0.03 |
|
R9436:Ankhd1
|
UTSW |
18 |
36,641,601 (GRCm38) |
missense |
probably benign |
0.04 |
|
R9436:Ankhd1
|
UTSW |
18 |
36,560,988 (GRCm38) |
missense |
probably benign |
0.39 |
|
R9541:Ankhd1
|
UTSW |
18 |
36,624,644 (GRCm38) |
missense |
|
|
|
R9584:Ankhd1
|
UTSW |
18 |
36,665,451 (GRCm38) |
missense |
probably benign |
0.06 |
|
R9664:Ankhd1
|
UTSW |
18 |
36,647,825 (GRCm38) |
missense |
probably benign |
0.03 |
|
RF001:Ankhd1
|
UTSW |
18 |
36,560,921 (GRCm38) |
small insertion |
probably benign |
|
|
RF004:Ankhd1
|
UTSW |
18 |
36,560,910 (GRCm38) |
small insertion |
probably benign |
|
|
RF007:Ankhd1
|
UTSW |
18 |
36,560,909 (GRCm38) |
small insertion |
probably benign |
|
|
RF008:Ankhd1
|
UTSW |
18 |
36,560,924 (GRCm38) |
small insertion |
probably benign |
|
|
RF009:Ankhd1
|
UTSW |
18 |
36,560,922 (GRCm38) |
small insertion |
probably benign |
|
|
RF013:Ankhd1
|
UTSW |
18 |
36,560,926 (GRCm38) |
small insertion |
probably benign |
|
|
RF016:Ankhd1
|
UTSW |
18 |
36,560,910 (GRCm38) |
small insertion |
probably benign |
|
|
RF016:Ankhd1
|
UTSW |
18 |
36,560,909 (GRCm38) |
small insertion |
probably benign |
|
|
RF017:Ankhd1
|
UTSW |
18 |
36,560,909 (GRCm38) |
small insertion |
probably benign |
|
|
RF018:Ankhd1
|
UTSW |
18 |
36,560,912 (GRCm38) |
small insertion |
probably benign |
|
|
RF026:Ankhd1
|
UTSW |
18 |
36,560,912 (GRCm38) |
small insertion |
probably benign |
|
|
RF030:Ankhd1
|
UTSW |
18 |
36,560,927 (GRCm38) |
small insertion |
probably benign |
|
|
RF030:Ankhd1
|
UTSW |
18 |
36,560,913 (GRCm38) |
small insertion |
probably benign |
|
|
RF039:Ankhd1
|
UTSW |
18 |
36,560,918 (GRCm38) |
small insertion |
probably benign |
|
|
RF043:Ankhd1
|
UTSW |
18 |
36,560,917 (GRCm38) |
small insertion |
probably benign |
|
|
RF046:Ankhd1
|
UTSW |
18 |
36,560,926 (GRCm38) |
small insertion |
probably benign |
|
|
RF047:Ankhd1
|
UTSW |
18 |
36,560,923 (GRCm38) |
small insertion |
probably benign |
|
|
RF047:Ankhd1
|
UTSW |
18 |
36,560,917 (GRCm38) |
small insertion |
probably benign |
|
|
RF049:Ankhd1
|
UTSW |
18 |
36,560,923 (GRCm38) |
small insertion |
probably benign |
|
|
RF050:Ankhd1
|
UTSW |
18 |
36,560,927 (GRCm38) |
small insertion |
probably benign |
|
|
RF054:Ankhd1
|
UTSW |
18 |
36,560,929 (GRCm38) |
small insertion |
probably benign |
|
|
RF057:Ankhd1
|
UTSW |
18 |
36,560,929 (GRCm38) |
small insertion |
probably benign |
|
|
RF060:Ankhd1
|
UTSW |
18 |
36,560,922 (GRCm38) |
small insertion |
probably benign |
|
|
RF061:Ankhd1
|
UTSW |
18 |
36,560,921 (GRCm38) |
small insertion |
probably benign |
|
|
RF062:Ankhd1
|
UTSW |
18 |
36,560,918 (GRCm38) |
small insertion |
probably benign |
|
|
X0027:Ankhd1
|
UTSW |
18 |
36,624,832 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0065:Ankhd1
|
UTSW |
18 |
36,578,764 (GRCm38) |
nonsense |
probably null |
|
|
X0066:Ankhd1
|
UTSW |
18 |
36,646,704 (GRCm38) |
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