Incidental Mutation 'IGL01932:Ankdd1a'
ID |
180473 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ankdd1a
|
Ensembl Gene |
ENSMUSG00000066510 |
Gene Name |
ankyrin repeat and death domain containing 1A |
Synonyms |
LOC384945, EG330963 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.141)
|
Stock # |
IGL01932
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
65395752-65427475 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
C to T
at 65414893 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150130
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061766]
[ENSMUST00000217646]
|
AlphaFold |
F8VQ39 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000061766
|
SMART Domains |
Protein: ENSMUSP00000057040 Gene: ENSMUSG00000066510
Domain | Start | End | E-Value | Type |
ANK
|
4 |
33 |
1.31e3 |
SMART |
ANK
|
37 |
66 |
2.1e-3 |
SMART |
ANK
|
70 |
99 |
6.26e-2 |
SMART |
ANK
|
103 |
132 |
8.72e-1 |
SMART |
ANK
|
138 |
167 |
5.09e-2 |
SMART |
ANK
|
171 |
200 |
4.03e-5 |
SMART |
ANK
|
204 |
233 |
5.32e-5 |
SMART |
ANK
|
237 |
268 |
8.72e-1 |
SMART |
ANK
|
270 |
299 |
8.99e-3 |
SMART |
ANK
|
303 |
332 |
1.23e0 |
SMART |
ANK
|
336 |
364 |
1.4e1 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217144
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217646
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy1 |
T |
A |
11: 7,050,565 (GRCm39) |
|
probably benign |
Het |
Adipor2 |
G |
A |
6: 119,338,825 (GRCm39) |
H143Y |
probably damaging |
Het |
Ankar |
A |
G |
1: 72,738,146 (GRCm39) |
I12T |
probably benign |
Het |
Cadps |
A |
G |
14: 12,373,609 (GRCm38) |
|
probably benign |
Het |
Cdh22 |
G |
A |
2: 165,012,728 (GRCm39) |
T119M |
probably benign |
Het |
Col6a6 |
T |
A |
9: 105,566,825 (GRCm39) |
K2223N |
probably benign |
Het |
Dnah11 |
G |
A |
12: 118,156,005 (GRCm39) |
|
probably benign |
Het |
Ezh2 |
T |
C |
6: 47,508,982 (GRCm39) |
T674A |
probably damaging |
Het |
Ffar4 |
A |
G |
19: 38,085,978 (GRCm39) |
E135G |
probably damaging |
Het |
Fsip2 |
G |
A |
2: 82,824,349 (GRCm39) |
R6694Q |
possibly damaging |
Het |
Gm10717 |
A |
T |
9: 3,026,287 (GRCm39) |
Y195F |
probably damaging |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
Gm4222 |
A |
G |
2: 89,978,801 (GRCm39) |
|
probably benign |
Het |
Hipk3 |
T |
A |
2: 104,301,326 (GRCm39) |
N289Y |
probably damaging |
Het |
Kndc1 |
T |
C |
7: 139,503,705 (GRCm39) |
L1003P |
probably damaging |
Het |
Mdk |
T |
C |
2: 91,761,461 (GRCm39) |
N72S |
probably damaging |
Het |
Or2at4 |
T |
A |
7: 99,384,707 (GRCm39) |
I119N |
probably damaging |
Het |
Or52n2 |
T |
A |
7: 104,542,425 (GRCm39) |
I137F |
probably damaging |
Het |
Pafah1b3 |
A |
T |
7: 24,996,516 (GRCm39) |
C56S |
probably benign |
Het |
Pdzrn4 |
A |
G |
15: 92,644,159 (GRCm39) |
I189V |
probably damaging |
Het |
Plekhh2 |
A |
G |
17: 84,884,689 (GRCm39) |
N801S |
probably benign |
Het |
Pramel7 |
A |
T |
2: 87,321,457 (GRCm39) |
S193T |
possibly damaging |
Het |
Prkag1 |
A |
G |
15: 98,712,412 (GRCm39) |
I171T |
probably damaging |
Het |
Prorp |
A |
G |
12: 55,350,910 (GRCm39) |
N73S |
probably benign |
Het |
Rap1b |
A |
T |
10: 117,658,765 (GRCm39) |
F23I |
probably damaging |
Het |
Scamp2 |
A |
G |
9: 57,468,399 (GRCm39) |
|
probably benign |
Het |
Ttn |
A |
T |
2: 76,714,818 (GRCm39) |
|
probably benign |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r17 |
A |
T |
5: 109,574,916 (GRCm39) |
R74S |
probably benign |
Het |
Wif1 |
G |
T |
10: 120,931,940 (GRCm39) |
C288F |
probably damaging |
Het |
|
Other mutations in Ankdd1a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01315:Ankdd1a
|
APN |
9 |
65,415,984 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01372:Ankdd1a
|
APN |
9 |
65,411,421 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02150:Ankdd1a
|
APN |
9 |
65,420,001 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03243:Ankdd1a
|
APN |
9 |
65,408,752 (GRCm39) |
missense |
probably benign |
0.28 |
PIT4618001:Ankdd1a
|
UTSW |
9 |
65,414,932 (GRCm39) |
missense |
possibly damaging |
0.76 |
R0137:Ankdd1a
|
UTSW |
9 |
65,417,610 (GRCm39) |
missense |
probably null |
0.26 |
R0302:Ankdd1a
|
UTSW |
9 |
65,416,924 (GRCm39) |
splice site |
probably benign |
|
R0980:Ankdd1a
|
UTSW |
9 |
65,424,253 (GRCm39) |
missense |
probably damaging |
1.00 |
R1832:Ankdd1a
|
UTSW |
9 |
65,411,771 (GRCm39) |
critical splice donor site |
probably null |
|
R3887:Ankdd1a
|
UTSW |
9 |
65,409,530 (GRCm39) |
missense |
probably damaging |
1.00 |
R4470:Ankdd1a
|
UTSW |
9 |
65,410,791 (GRCm39) |
missense |
probably damaging |
1.00 |
R4471:Ankdd1a
|
UTSW |
9 |
65,410,791 (GRCm39) |
missense |
probably damaging |
1.00 |
R5326:Ankdd1a
|
UTSW |
9 |
65,411,472 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5394:Ankdd1a
|
UTSW |
9 |
65,412,496 (GRCm39) |
missense |
probably benign |
0.12 |
R5542:Ankdd1a
|
UTSW |
9 |
65,411,472 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5594:Ankdd1a
|
UTSW |
9 |
65,409,523 (GRCm39) |
missense |
probably damaging |
1.00 |
R5933:Ankdd1a
|
UTSW |
9 |
65,416,978 (GRCm39) |
missense |
probably benign |
0.11 |
R6217:Ankdd1a
|
UTSW |
9 |
65,415,343 (GRCm39) |
missense |
possibly damaging |
0.85 |
R6294:Ankdd1a
|
UTSW |
9 |
65,427,446 (GRCm39) |
missense |
probably benign |
0.12 |
R6300:Ankdd1a
|
UTSW |
9 |
65,415,343 (GRCm39) |
missense |
possibly damaging |
0.85 |
R6301:Ankdd1a
|
UTSW |
9 |
65,415,343 (GRCm39) |
missense |
possibly damaging |
0.85 |
R6305:Ankdd1a
|
UTSW |
9 |
65,415,343 (GRCm39) |
missense |
possibly damaging |
0.85 |
R6306:Ankdd1a
|
UTSW |
9 |
65,415,343 (GRCm39) |
missense |
possibly damaging |
0.85 |
R6307:Ankdd1a
|
UTSW |
9 |
65,415,343 (GRCm39) |
missense |
possibly damaging |
0.85 |
R6312:Ankdd1a
|
UTSW |
9 |
65,415,343 (GRCm39) |
missense |
possibly damaging |
0.85 |
R6313:Ankdd1a
|
UTSW |
9 |
65,415,343 (GRCm39) |
missense |
possibly damaging |
0.85 |
R6314:Ankdd1a
|
UTSW |
9 |
65,415,343 (GRCm39) |
missense |
possibly damaging |
0.85 |
R6413:Ankdd1a
|
UTSW |
9 |
65,417,654 (GRCm39) |
missense |
probably benign |
|
R6431:Ankdd1a
|
UTSW |
9 |
65,424,220 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6477:Ankdd1a
|
UTSW |
9 |
65,409,494 (GRCm39) |
missense |
probably benign |
0.10 |
R6991:Ankdd1a
|
UTSW |
9 |
65,415,957 (GRCm39) |
missense |
probably benign |
0.22 |
R7260:Ankdd1a
|
UTSW |
9 |
65,411,834 (GRCm39) |
missense |
probably damaging |
0.96 |
R7586:Ankdd1a
|
UTSW |
9 |
65,409,466 (GRCm39) |
critical splice donor site |
probably null |
|
R8680:Ankdd1a
|
UTSW |
9 |
65,412,418 (GRCm39) |
missense |
probably damaging |
1.00 |
R8809:Ankdd1a
|
UTSW |
9 |
65,415,422 (GRCm39) |
splice site |
probably benign |
|
R9562:Ankdd1a
|
UTSW |
9 |
65,411,452 (GRCm39) |
missense |
possibly damaging |
0.62 |
R9565:Ankdd1a
|
UTSW |
9 |
65,411,452 (GRCm39) |
missense |
possibly damaging |
0.62 |
R9772:Ankdd1a
|
UTSW |
9 |
65,408,749 (GRCm39) |
missense |
probably damaging |
1.00 |
X0064:Ankdd1a
|
UTSW |
9 |
65,410,735 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2014-05-07 |