Incidental Mutation 'R5892:Depdc1a'
ID |
457237 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Depdc1a
|
Ensembl Gene |
ENSMUSG00000028175 |
Gene Name |
DEP domain containing 1a |
Synonyms |
5830484J08Rik |
MMRRC Submission |
044093-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.120)
|
Stock # |
R5892 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
159201070-159235592 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to C
at 159232306 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Proline
at position 686
(A686P)
|
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: A686P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000029825 Gene: ENSMUSG00000028175 AA Change: A686P
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: A409P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000101656 Gene: ENSMUSG00000028175 AA Change: A409P
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: A686P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113216 Gene: ENSMUSG00000028175 AA Change: A686P
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 |
|
Meta Mutation Damage Score |
0.4410 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.6%
|
Validation Efficiency |
98% (56/57) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930524J08Rik |
G |
T |
5: 100,127,124 (GRCm39) |
|
probably benign |
Het |
Abcb11 |
C |
T |
2: 69,091,844 (GRCm39) |
A893T |
probably damaging |
Het |
Adtrp |
A |
T |
13: 41,981,682 (GRCm39) |
N30K |
probably benign |
Het |
Alms1 |
T |
A |
6: 85,597,885 (GRCm39) |
S904T |
probably damaging |
Het |
Cep170 |
T |
A |
1: 176,582,953 (GRCm39) |
|
probably null |
Het |
Cntnap3 |
A |
G |
13: 64,946,994 (GRCm39) |
V145A |
probably damaging |
Het |
Dclre1a |
T |
C |
19: 56,535,572 (GRCm39) |
E4G |
probably benign |
Het |
Dnah7b |
T |
C |
1: 46,376,753 (GRCm39) |
|
probably null |
Het |
Enox1 |
A |
G |
14: 77,723,457 (GRCm39) |
|
probably benign |
Het |
Fam107b |
A |
G |
2: 3,779,601 (GRCm39) |
E268G |
probably damaging |
Het |
Fer1l6 |
A |
G |
15: 58,435,917 (GRCm39) |
S437G |
probably benign |
Het |
Flnb |
C |
A |
14: 7,907,183 (GRCm38) |
T1252K |
probably damaging |
Het |
Fubp1 |
A |
G |
3: 151,923,951 (GRCm39) |
|
probably benign |
Het |
Gm20402 |
G |
A |
3: 52,176,370 (GRCm39) |
A50T |
probably benign |
Het |
Gpr137b |
T |
C |
13: 13,533,991 (GRCm39) |
Y355C |
|
Het |
Gzmk |
C |
T |
13: 113,310,456 (GRCm39) |
|
probably null |
Het |
Ino80 |
A |
T |
2: 119,270,028 (GRCm39) |
|
probably benign |
Het |
Ints8 |
T |
C |
4: 11,223,813 (GRCm39) |
T677A |
probably damaging |
Het |
Kat6a |
A |
G |
8: 23,428,305 (GRCm39) |
E1220G |
probably damaging |
Het |
Lrfn5 |
A |
G |
12: 61,890,204 (GRCm39) |
T498A |
probably damaging |
Het |
Lrp2 |
T |
A |
2: 69,273,120 (GRCm39) |
T4043S |
probably benign |
Het |
Malrd1 |
A |
G |
2: 15,619,078 (GRCm39) |
N314S |
probably benign |
Het |
Mfsd1 |
A |
G |
3: 67,497,162 (GRCm39) |
|
probably null |
Het |
Muc1 |
C |
T |
3: 89,138,300 (GRCm39) |
P381S |
probably benign |
Het |
Myh2 |
A |
T |
11: 67,076,002 (GRCm39) |
K730* |
probably null |
Het |
Nat3 |
T |
A |
8: 68,000,590 (GRCm39) |
N156K |
probably benign |
Het |
Nelfe |
T |
C |
17: 35,073,645 (GRCm39) |
|
probably benign |
Het |
Nlrp1a |
A |
T |
11: 70,990,471 (GRCm39) |
L927Q |
probably damaging |
Het |
P4ha2 |
A |
G |
11: 54,011,014 (GRCm39) |
Y343C |
probably damaging |
Het |
Pclo |
A |
T |
5: 14,571,185 (GRCm39) |
Q190L |
probably damaging |
Het |
Pde8a |
A |
G |
7: 80,945,439 (GRCm39) |
N183S |
probably damaging |
Het |
Plekha2 |
C |
T |
8: 25,542,381 (GRCm39) |
V278I |
probably benign |
Het |
Plekha6 |
G |
C |
1: 133,200,045 (GRCm39) |
R208P |
possibly damaging |
Het |
Plxnb1 |
T |
C |
9: 108,940,775 (GRCm39) |
L1550P |
probably damaging |
Het |
Ppox |
C |
T |
1: 171,105,034 (GRCm39) |
V385I |
probably damaging |
Het |
Prdm16 |
T |
C |
4: 154,407,716 (GRCm39) |
D1170G |
possibly damaging |
Het |
Prmt5 |
A |
T |
14: 54,747,368 (GRCm39) |
S470T |
probably damaging |
Het |
Robo2 |
T |
A |
16: 73,692,668 (GRCm39) |
|
probably benign |
Het |
Siglecg |
G |
A |
7: 43,061,628 (GRCm39) |
|
probably benign |
Het |
Slc30a5 |
T |
C |
13: 100,949,810 (GRCm39) |
N367S |
probably damaging |
Het |
Tex29 |
C |
T |
8: 11,904,288 (GRCm39) |
|
probably benign |
Het |
Tmem117 |
T |
A |
15: 94,536,020 (GRCm39) |
V18E |
probably damaging |
Het |
Tmtc2 |
C |
T |
10: 105,249,366 (GRCm39) |
M122I |
probably benign |
Het |
Tpr |
T |
A |
1: 150,283,151 (GRCm39) |
N287K |
probably benign |
Het |
Unc93b1 |
A |
T |
19: 3,993,632 (GRCm39) |
D358V |
probably damaging |
Het |
Vrk2 |
A |
T |
11: 26,484,372 (GRCm39) |
|
probably benign |
Het |
Wdr24 |
A |
T |
17: 26,046,960 (GRCm39) |
Q671L |
probably benign |
Het |
Zfp110 |
C |
T |
7: 12,582,405 (GRCm39) |
T351I |
probably benign |
Het |
Zfp963 |
T |
C |
8: 70,196,027 (GRCm39) |
D142G |
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 |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TCTCTGTTAATGGAAGCTGTGAC -3'
(R):5'- CCAGGCTCCATACATTCCTG -3'
Sequencing Primer
(F):5'- TGACCCATTAGAATTTTGCTAACAC -3'
(R):5'- CCATACATTCCTGACTTTGAGAATGC -3'
|
Posted On |
2017-02-15 |