Incidental Mutation 'IGL01372:Ankdd1a'
| ID |
76174 |
| 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 # |
IGL01372
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
65395752-65427475 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 65411421 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 362
(L362Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150130
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061766]
[ENSMUST00000217646]
|
| AlphaFold |
F8VQ39 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061766
AA Change: L352Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000057040
Gene: ENSMUSG00000066510
AA Change: L352Q
| 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 damaging
Transcript: ENSMUST00000217646
AA Change: L362Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
G |
A |
10: 79,842,089 (GRCm39) |
D1049N |
probably benign |
Het |
| Ankib1 |
A |
T |
5: 3,822,594 (GRCm39) |
N37K |
probably damaging |
Het |
| Ankrd55 |
T |
A |
13: 112,459,677 (GRCm39) |
D90E |
probably damaging |
Het |
| Atp1a2 |
T |
C |
1: 172,106,510 (GRCm39) |
R831G |
probably damaging |
Het |
| Bcar3 |
A |
G |
3: 122,316,943 (GRCm39) |
D638G |
probably damaging |
Het |
| Cabp4 |
T |
A |
19: 4,189,322 (GRCm39) |
E78D |
probably benign |
Het |
| Cmtm8 |
A |
G |
9: 114,619,755 (GRCm39) |
V130A |
possibly damaging |
Het |
| Cyth3 |
A |
G |
5: 143,678,393 (GRCm39) |
T66A |
possibly damaging |
Het |
| Dmbt1 |
A |
T |
7: 130,705,409 (GRCm39) |
I1171F |
possibly damaging |
Het |
| Dnah10 |
G |
A |
5: 124,856,218 (GRCm39) |
G2060D |
probably damaging |
Het |
| Dnah11 |
T |
C |
12: 118,156,134 (GRCm39) |
H172R |
probably damaging |
Het |
| Dnah5 |
C |
T |
15: 28,230,636 (GRCm39) |
A178V |
probably benign |
Het |
| Efcab6 |
T |
G |
15: 83,928,505 (GRCm39) |
M30L |
possibly damaging |
Het |
| Ehbp1l1 |
T |
C |
19: 5,765,817 (GRCm39) |
|
probably benign |
Het |
| Eps15 |
G |
A |
4: 109,179,303 (GRCm39) |
E230K |
probably damaging |
Het |
| Fam91a1 |
A |
G |
15: 58,301,911 (GRCm39) |
I258M |
probably damaging |
Het |
| Gm5581 |
G |
A |
6: 131,145,366 (GRCm39) |
|
noncoding transcript |
Het |
| Hrh1 |
G |
A |
6: 114,456,958 (GRCm39) |
V80I |
probably damaging |
Het |
| Ldhd |
G |
A |
8: 112,355,032 (GRCm39) |
H290Y |
probably benign |
Het |
| Lepr |
G |
A |
4: 101,592,774 (GRCm39) |
E130K |
possibly damaging |
Het |
| Mycbpap |
T |
C |
11: 94,397,282 (GRCm39) |
I40V |
possibly damaging |
Het |
| Nrap |
T |
A |
19: 56,317,534 (GRCm39) |
|
probably null |
Het |
| Opn5 |
T |
A |
17: 42,891,435 (GRCm39) |
|
probably null |
Het |
| Or1j14 |
T |
A |
2: 36,417,463 (GRCm39) |
I13N |
probably benign |
Het |
| Or5ac24 |
A |
G |
16: 59,165,524 (GRCm39) |
I180T |
probably damaging |
Het |
| Otop3 |
A |
T |
11: 115,235,930 (GRCm39) |
T521S |
possibly damaging |
Het |
| Pcsk5 |
T |
G |
19: 17,595,108 (GRCm39) |
T409P |
probably damaging |
Het |
| Pde9a |
T |
A |
17: 31,680,685 (GRCm39) |
F322Y |
probably benign |
Het |
| Pgm5 |
T |
A |
19: 24,710,985 (GRCm39) |
I406F |
probably damaging |
Het |
| Prrc2b |
T |
C |
2: 32,113,942 (GRCm39) |
S1998P |
probably damaging |
Het |
| Prune2 |
T |
C |
19: 17,102,433 (GRCm39) |
Y2531H |
probably damaging |
Het |
| Ptprk |
T |
C |
10: 28,445,923 (GRCm39) |
V932A |
probably benign |
Het |
| Rapgef6 |
T |
A |
11: 54,559,437 (GRCm39) |
|
probably benign |
Het |
| Rgsl1 |
T |
A |
1: 153,701,887 (GRCm39) |
Y224F |
probably damaging |
Het |
| Rps6kl1 |
A |
T |
12: 85,193,663 (GRCm39) |
C143S |
probably damaging |
Het |
| S100a7l2 |
A |
G |
3: 90,995,616 (GRCm39) |
|
probably benign |
Het |
| Slc5a5 |
G |
A |
8: 71,343,020 (GRCm39) |
|
probably benign |
Het |
| Tfb2m |
A |
G |
1: 179,369,878 (GRCm39) |
S182P |
probably damaging |
Het |
| Tmc3 |
A |
G |
7: 83,261,746 (GRCm39) |
H608R |
probably damaging |
Het |
| Trim37 |
T |
A |
11: 87,075,772 (GRCm39) |
H459Q |
probably benign |
Het |
| Vmn2r71 |
A |
T |
7: 85,270,022 (GRCm39) |
|
probably benign |
Het |
| Xirp2 |
T |
C |
2: 67,344,334 (GRCm39) |
S2192P |
possibly 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 |
|
IGL01932:Ankdd1a
|
APN |
9 |
65,414,893 (GRCm39) |
splice site |
probably benign |
|
|
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 |
2013-10-07 |
Incidental Mutation