Incidental Mutation 'IGL01567:Depdc1a'
| ID |
91009 |
| 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: 0.120)
|
| Stock # |
IGL01567
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
159201070-159235592 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 159232183 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 645
(S645P)
|
| 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: S645P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000029825
Gene: ENSMUSG00000028175
AA Change: S645P
| 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: S368P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000101656
Gene: ENSMUSG00000028175
AA Change: S368P
| 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: S645P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113216
Gene: ENSMUSG00000028175
AA Change: S645P
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl1 |
A |
G |
7: 76,071,628 (GRCm39) |
S317G |
probably benign |
Het |
| Akna |
T |
C |
4: 63,300,087 (GRCm39) |
T652A |
probably benign |
Het |
| Anxa9 |
G |
A |
3: 95,209,743 (GRCm39) |
|
probably benign |
Het |
| Bpifb4 |
T |
A |
2: 153,789,198 (GRCm39) |
|
probably benign |
Het |
| Bptf |
A |
G |
11: 106,949,600 (GRCm39) |
S2125P |
probably damaging |
Het |
| Capns2 |
C |
A |
8: 93,628,634 (GRCm39) |
H174Q |
probably benign |
Het |
| Cd200 |
A |
C |
16: 45,215,054 (GRCm39) |
L199R |
probably damaging |
Het |
| Clasp2 |
T |
C |
9: 113,709,164 (GRCm39) |
V651A |
probably damaging |
Het |
| Cox18 |
G |
A |
5: 90,365,447 (GRCm39) |
Q251* |
probably null |
Het |
| Dio3 |
T |
A |
12: 110,245,861 (GRCm39) |
C66S |
possibly damaging |
Het |
| Dock9 |
A |
T |
14: 121,890,496 (GRCm39) |
L258Q |
probably damaging |
Het |
| Ghrhr |
A |
G |
6: 55,361,108 (GRCm39) |
D274G |
probably damaging |
Het |
| Gm5129 |
A |
G |
5: 29,940,862 (GRCm39) |
|
probably benign |
Het |
| Grb7 |
A |
G |
11: 98,345,776 (GRCm39) |
N518S |
probably damaging |
Het |
| Kdm5b |
G |
A |
1: 134,530,278 (GRCm39) |
A430T |
probably damaging |
Het |
| Map10 |
C |
A |
8: 126,398,232 (GRCm39) |
Q542K |
probably benign |
Het |
| Metap1 |
T |
C |
3: 138,168,150 (GRCm39) |
T325A |
probably damaging |
Het |
| Ncan |
A |
T |
8: 70,560,984 (GRCm39) |
M661K |
probably benign |
Het |
| Or2f1b |
T |
C |
6: 42,739,661 (GRCm39) |
I225T |
probably benign |
Het |
| Or51h5 |
A |
G |
7: 102,577,623 (GRCm39) |
I263V |
probably benign |
Het |
| Otog |
T |
C |
7: 45,926,039 (GRCm39) |
|
probably benign |
Het |
| Pip4k2b |
T |
C |
11: 97,620,387 (GRCm39) |
D116G |
probably damaging |
Het |
| Rps15 |
T |
A |
10: 80,129,643 (GRCm39) |
L86Q |
probably benign |
Het |
| Sfxn4 |
G |
T |
19: 60,842,336 (GRCm39) |
T122K |
probably damaging |
Het |
| Slc4a3 |
T |
C |
1: 75,527,526 (GRCm39) |
V165A |
probably damaging |
Het |
| Spmip7 |
A |
G |
11: 11,465,015 (GRCm39) |
H122R |
possibly damaging |
Het |
| Synm |
A |
G |
7: 67,384,980 (GRCm39) |
V452A |
probably damaging |
Het |
| Tdpoz1 |
T |
C |
3: 93,578,013 (GRCm39) |
H257R |
possibly damaging |
Het |
| Tmem26 |
A |
G |
10: 68,587,061 (GRCm39) |
T170A |
probably damaging |
Het |
| Wdfy4 |
T |
G |
14: 32,873,618 (GRCm39) |
E230D |
probably benign |
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 |
|
IGL01530:Depdc1a
|
APN |
3 |
159,229,560 (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 |
2013-12-09 |
Incidental Mutation