Incidental Mutation 'IGL01530:Depdc1a'
| ID |
89705 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Depdc1a
|
| Ensembl Gene |
ENSMUSG00000028175 |
| Gene Name |
DEP domain containing 1a |
| Synonyms |
5830484J08Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.114)
|
| Stock # |
IGL01530
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
159201070-159235592 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 159229560 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 631
(H631Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113216
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029825]
[ENSMUST00000106041]
[ENSMUST00000120272]
|
| AlphaFold |
Q8CIG0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029825
AA Change: H631Y
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000029825
Gene: ENSMUSG00000028175
AA Change: H631Y
| Domain | Start | End | E-Value | Type |
|---|
|
DEP
|
24 |
108 |
3.51e-24 |
SMART |
|
low complexity region
|
505 |
524 |
N/A |
INTRINSIC |
|
low complexity region
|
542 |
553 |
N/A |
INTRINSIC |
|
SCOP:d1f7ca_
|
584 |
680 |
3e-9 |
SMART |
|
low complexity region
|
745 |
762 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106041
AA Change: H354Y
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000101656
Gene: ENSMUSG00000028175
AA Change: H354Y
| Domain | Start | End | E-Value | Type |
|---|
|
DEP
|
24 |
108 |
3.51e-24 |
SMART |
|
Pfam:RhoGAP
|
251 |
357 |
2.3e-11 |
PFAM |
|
coiled coil region
|
460 |
488 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120272
AA Change: H631Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113216
Gene: ENSMUSG00000028175
AA Change: H631Y
| Domain | Start | End | E-Value | Type |
|---|
|
DEP
|
24 |
108 |
3.51e-24 |
SMART |
|
low complexity region
|
505 |
524 |
N/A |
INTRINSIC |
|
low complexity region
|
542 |
553 |
N/A |
INTRINSIC |
|
SCOP:d1f7ca_
|
584 |
680 |
4e-9 |
SMART |
|
coiled coil region
|
737 |
765 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acin1 |
G |
A |
14: 54,881,443 (GRCm39) |
R1117W |
probably damaging |
Het |
| Acox2 |
T |
G |
14: 8,246,363 (GRCm38) |
Y476S |
probably damaging |
Het |
| Arl6ip5 |
G |
A |
6: 97,187,785 (GRCm39) |
D2N |
possibly damaging |
Het |
| Ces2h |
A |
G |
8: 105,741,116 (GRCm39) |
H36R |
probably benign |
Het |
| Cfap44 |
C |
A |
16: 44,269,530 (GRCm39) |
A1178E |
probably damaging |
Het |
| Clmn |
T |
A |
12: 104,758,115 (GRCm39) |
I134F |
probably damaging |
Het |
| Col6a5 |
A |
G |
9: 105,792,385 (GRCm39) |
|
probably benign |
Het |
| Csmd1 |
C |
T |
8: 15,953,195 (GRCm39) |
E3429K |
probably damaging |
Het |
| Csmd2 |
A |
G |
4: 128,308,094 (GRCm39) |
D1284G |
possibly damaging |
Het |
| Csmd3 |
C |
T |
15: 47,701,833 (GRCm39) |
G1750E |
possibly damaging |
Het |
| Csmd3 |
T |
G |
15: 47,533,013 (GRCm39) |
D2516A |
probably damaging |
Het |
| Fat2 |
A |
T |
11: 55,174,213 (GRCm39) |
S2167T |
probably benign |
Het |
| Flii |
G |
A |
11: 60,611,008 (GRCm39) |
R474* |
probably null |
Het |
| Hmcn2 |
A |
C |
2: 31,244,276 (GRCm39) |
D687A |
possibly damaging |
Het |
| Hrh4 |
A |
G |
18: 13,149,004 (GRCm39) |
|
probably benign |
Het |
| Hsd3b5 |
G |
A |
3: 98,526,439 (GRCm39) |
R336C |
probably damaging |
Het |
| Igkv5-39 |
T |
A |
6: 69,877,459 (GRCm39) |
E79V |
probably damaging |
Het |
| Iqgap3 |
G |
A |
3: 88,019,610 (GRCm39) |
|
probably null |
Het |
| Irak3 |
G |
A |
10: 119,978,699 (GRCm39) |
S492F |
probably benign |
Het |
| Kif14 |
T |
A |
1: 136,406,157 (GRCm39) |
|
probably benign |
Het |
| Kmt2c |
T |
C |
5: 25,518,498 (GRCm39) |
I2394V |
probably benign |
Het |
| Lama1 |
C |
T |
17: 68,103,785 (GRCm39) |
A2002V |
probably benign |
Het |
| Map3k19 |
T |
C |
1: 127,749,841 (GRCm39) |
E1170G |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,711,938 (GRCm39) |
|
probably benign |
Het |
| Mpo |
G |
T |
11: 87,692,017 (GRCm39) |
M483I |
probably benign |
Het |
| Neu3 |
T |
C |
7: 99,462,953 (GRCm39) |
S257G |
probably benign |
Het |
| Nhsl3 |
G |
A |
4: 129,116,589 (GRCm39) |
|
probably null |
Het |
| Niban3 |
A |
T |
8: 72,056,561 (GRCm39) |
|
probably benign |
Het |
| Nup214 |
A |
G |
2: 31,923,733 (GRCm39) |
T1421A |
probably benign |
Het |
| Pbx1 |
T |
C |
1: 168,018,873 (GRCm39) |
N324S |
probably benign |
Het |
| Pcbp2 |
T |
C |
15: 102,392,601 (GRCm39) |
S5P |
probably benign |
Het |
| Pds5b |
A |
G |
5: 150,715,640 (GRCm39) |
I511V |
probably benign |
Het |
| Pdzph1 |
C |
T |
17: 59,229,710 (GRCm39) |
D983N |
probably damaging |
Het |
| Phldb2 |
A |
C |
16: 45,623,092 (GRCm39) |
D651E |
probably damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,629,643 (GRCm39) |
|
probably null |
Het |
| Plxnb1 |
A |
G |
9: 108,939,473 (GRCm39) |
D1406G |
probably benign |
Het |
| Rhebl1 |
T |
C |
15: 98,777,367 (GRCm39) |
D65G |
probably damaging |
Het |
| Smpdl3a |
A |
G |
10: 57,683,989 (GRCm39) |
H249R |
probably damaging |
Het |
| Sorbs1 |
T |
C |
19: 40,365,091 (GRCm39) |
T231A |
probably benign |
Het |
| Tmem232 |
G |
A |
17: 65,563,543 (GRCm39) |
Q617* |
probably null |
Het |
| Trim62 |
A |
G |
4: 128,778,252 (GRCm39) |
D97G |
probably benign |
Het |
| Tsc2 |
T |
C |
17: 24,841,636 (GRCm39) |
T328A |
possibly damaging |
Het |
| Ugt2b5 |
C |
T |
5: 87,285,104 (GRCm39) |
V278I |
probably benign |
Het |
| Usp4 |
T |
C |
9: 108,240,099 (GRCm39) |
|
probably null |
Het |
| Vdac3-ps1 |
C |
T |
13: 18,206,091 (GRCm39) |
|
noncoding transcript |
Het |
| Wwc2 |
T |
A |
8: 48,316,974 (GRCm39) |
R706S |
unknown |
Het |
| Xpot |
A |
C |
10: 121,447,433 (GRCm39) |
I114S |
probably damaging |
Het |
| Zfp777 |
T |
A |
6: 48,020,918 (GRCm39) |
S279C |
probably damaging |
Het |
|
| Other mutations in Depdc1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00577:Depdc1a
|
APN |
3 |
159,228,375 (GRCm39) |
nonsense |
probably null |
|
|
IGL00581:Depdc1a
|
APN |
3 |
159,232,189 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL00961:Depdc1a
|
APN |
3 |
159,229,451 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL01567:Depdc1a
|
APN |
3 |
159,232,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02320:Depdc1a
|
APN |
3 |
159,222,570 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02622:Depdc1a
|
APN |
3 |
159,221,147 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02647:Depdc1a
|
APN |
3 |
159,228,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P0033:Depdc1a
|
UTSW |
3 |
159,221,778 (GRCm39) |
missense |
probably damaging |
0.99 |
|
P4717OSA:Depdc1a
|
UTSW |
3 |
159,228,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P4748:Depdc1a
|
UTSW |
3 |
159,228,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0220:Depdc1a
|
UTSW |
3 |
159,229,542 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0454:Depdc1a
|
UTSW |
3 |
159,222,537 (GRCm39) |
splice site |
probably null |
|
|
R0479:Depdc1a
|
UTSW |
3 |
159,226,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1317:Depdc1a
|
UTSW |
3 |
159,228,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1452:Depdc1a
|
UTSW |
3 |
159,232,328 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1567:Depdc1a
|
UTSW |
3 |
159,228,177 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1669:Depdc1a
|
UTSW |
3 |
159,228,561 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1751:Depdc1a
|
UTSW |
3 |
159,228,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2332:Depdc1a
|
UTSW |
3 |
159,229,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4023:Depdc1a
|
UTSW |
3 |
159,221,786 (GRCm39) |
splice site |
probably null |
|
|
R4254:Depdc1a
|
UTSW |
3 |
159,204,124 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4551:Depdc1a
|
UTSW |
3 |
159,228,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4780:Depdc1a
|
UTSW |
3 |
159,232,343 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4782:Depdc1a
|
UTSW |
3 |
159,232,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4866:Depdc1a
|
UTSW |
3 |
159,221,764 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4981:Depdc1a
|
UTSW |
3 |
159,229,550 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5100:Depdc1a
|
UTSW |
3 |
159,221,157 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5326:Depdc1a
|
UTSW |
3 |
159,232,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5367:Depdc1a
|
UTSW |
3 |
159,229,591 (GRCm39) |
splice site |
probably null |
|
|
R5892:Depdc1a
|
UTSW |
3 |
159,232,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6314:Depdc1a
|
UTSW |
3 |
159,204,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6467:Depdc1a
|
UTSW |
3 |
159,221,679 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6674:Depdc1a
|
UTSW |
3 |
159,232,344 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7061:Depdc1a
|
UTSW |
3 |
159,228,489 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R7366:Depdc1a
|
UTSW |
3 |
159,228,849 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7531:Depdc1a
|
UTSW |
3 |
159,228,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7886:Depdc1a
|
UTSW |
3 |
159,221,706 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7981:Depdc1a
|
UTSW |
3 |
159,226,488 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8335:Depdc1a
|
UTSW |
3 |
159,228,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8488:Depdc1a
|
UTSW |
3 |
159,229,512 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8560:Depdc1a
|
UTSW |
3 |
159,219,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8725:Depdc1a
|
UTSW |
3 |
159,228,356 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8727:Depdc1a
|
UTSW |
3 |
159,228,356 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9096:Depdc1a
|
UTSW |
3 |
159,204,117 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9097:Depdc1a
|
UTSW |
3 |
159,204,117 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9360:Depdc1a
|
UTSW |
3 |
159,232,168 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
X0026:Depdc1a
|
UTSW |
3 |
159,204,268 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2013-12-03 |
Incidental Mutation