Incidental Mutation 'R9097:Depdc1a'
| ID |
691402 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Depdc1a
|
| Ensembl Gene |
ENSMUSG00000028175 |
| Gene Name |
DEP domain containing 1a |
| Synonyms |
5830484J08Rik |
| MMRRC Submission |
068912-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.120)
|
| Stock # |
R9097 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
159201070-159235592 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 159204117 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 55
(D55E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113216
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029825]
[ENSMUST00000106041]
[ENSMUST00000120272]
|
| AlphaFold |
Q8CIG0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029825
AA Change: D55E
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000029825
Gene: ENSMUSG00000028175
AA Change: D55E
| 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 benign
Transcript: ENSMUST00000106041
AA Change: D55E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000101656
Gene: ENSMUSG00000028175
AA Change: D55E
| 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 benign
Transcript: ENSMUST00000120272
AA Change: D55E
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000113216
Gene: ENSMUSG00000028175
AA Change: D55E
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.1%
|
| Validation Efficiency |
96% (50/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Antxrl |
G |
A |
14: 33,793,660 (GRCm39) |
V463I |
probably benign |
Het |
| Aox1 |
T |
A |
1: 58,326,887 (GRCm39) |
L162Q |
possibly damaging |
Het |
| Arhgap40 |
A |
T |
2: 158,389,584 (GRCm39) |
M586L |
probably benign |
Het |
| Arnt |
G |
T |
3: 95,397,588 (GRCm39) |
S535I |
probably benign |
Het |
| Bsx |
G |
T |
9: 40,785,636 (GRCm39) |
G55C |
probably damaging |
Het |
| Ccdc168 |
T |
C |
1: 44,098,049 (GRCm39) |
I1016M |
possibly damaging |
Het |
| Col9a1 |
A |
T |
1: 24,224,207 (GRCm39) |
I130F |
unknown |
Het |
| Cyp51 |
G |
T |
5: 4,149,172 (GRCm39) |
T235N |
possibly damaging |
Het |
| Dlc1 |
A |
T |
8: 37,080,721 (GRCm39) |
I10N |
probably benign |
Het |
| Dzank1 |
G |
T |
2: 144,316,882 (GRCm39) |
L767I |
possibly damaging |
Het |
| Eif3k |
A |
T |
7: 28,671,660 (GRCm39) |
*193K |
probably null |
Het |
| Eprs1 |
C |
A |
1: 185,139,303 (GRCm39) |
A896E |
probably benign |
Het |
| Evc2 |
T |
A |
5: 37,550,505 (GRCm39) |
F840I |
possibly damaging |
Het |
| Fut2 |
G |
T |
7: 45,300,375 (GRCm39) |
H132Q |
probably benign |
Het |
| Gbp11 |
T |
C |
5: 105,474,347 (GRCm39) |
*443W |
probably null |
Het |
| Gimd1 |
T |
A |
3: 132,340,661 (GRCm39) |
M59K |
probably benign |
Het |
| Glis2 |
A |
G |
16: 4,429,640 (GRCm39) |
T228A |
probably damaging |
Het |
| Gm21663 |
G |
C |
5: 26,147,167 (GRCm39) |
C46W |
probably benign |
Het |
| Gpr162 |
A |
G |
6: 124,836,570 (GRCm39) |
I367T |
probably benign |
Het |
| Grik1 |
G |
A |
16: 87,732,796 (GRCm39) |
T692I |
|
Het |
| Igf2r |
G |
T |
17: 12,910,100 (GRCm39) |
A2043D |
probably damaging |
Het |
| Il12b |
C |
A |
11: 44,301,107 (GRCm39) |
L208M |
probably benign |
Het |
| Il12b |
T |
A |
11: 44,301,108 (GRCm39) |
L208Q |
probably damaging |
Het |
| Lrrk2 |
C |
T |
15: 91,557,459 (GRCm39) |
|
probably benign |
Het |
| Map3k9 |
T |
C |
12: 81,819,855 (GRCm39) |
D133G |
possibly damaging |
Het |
| Mrc2 |
A |
G |
11: 105,231,398 (GRCm39) |
D777G |
probably damaging |
Het |
| Mtrr |
A |
G |
13: 68,723,441 (GRCm39) |
L157P |
probably benign |
Het |
| Nol4l |
C |
A |
2: 153,312,630 (GRCm39) |
R226L |
probably damaging |
Het |
| Nsmaf |
CAAACTTTTAAACTT |
CAAACTT |
4: 6,416,543 (GRCm39) |
|
probably null |
Het |
| Or4f7 |
T |
A |
2: 111,644,196 (GRCm39) |
K292* |
probably null |
Het |
| Or51f23c-ps1 |
A |
G |
7: 102,431,475 (GRCm39) |
H264R |
probably damaging |
Het |
| Or5p73 |
A |
T |
7: 108,064,815 (GRCm39) |
I95F |
probably damaging |
Het |
| Or6c7 |
T |
A |
10: 129,323,647 (GRCm39) |
M256K |
possibly damaging |
Het |
| Or7g22 |
G |
A |
9: 19,048,670 (GRCm39) |
C127Y |
probably damaging |
Het |
| Or9g8 |
T |
A |
2: 85,607,669 (GRCm39) |
V247E |
probably damaging |
Het |
| Pkn2 |
C |
T |
3: 142,515,249 (GRCm39) |
R695Q |
probably benign |
Het |
| Ppp1r9a |
A |
G |
6: 4,906,012 (GRCm39) |
D189G |
probably damaging |
Het |
| Prkca |
A |
G |
11: 107,905,061 (GRCm39) |
S226P |
probably benign |
Het |
| Ptpru |
T |
C |
4: 131,499,843 (GRCm39) |
N1267S |
probably damaging |
Het |
| Retnlb |
T |
A |
16: 48,638,980 (GRCm39) |
|
probably benign |
Het |
| Rrp12 |
A |
T |
19: 41,878,577 (GRCm39) |
D189E |
probably benign |
Het |
| Serpinb7 |
G |
A |
1: 107,377,907 (GRCm39) |
C200Y |
probably damaging |
Het |
| Sez6 |
G |
A |
11: 77,865,121 (GRCm39) |
E623K |
possibly damaging |
Het |
| Stk32a |
A |
T |
18: 43,446,497 (GRCm39) |
M316L |
possibly damaging |
Het |
| Supt6 |
G |
T |
11: 78,113,100 (GRCm39) |
H948N |
probably benign |
Het |
| Sycp2l |
A |
T |
13: 41,300,070 (GRCm39) |
D428V |
possibly damaging |
Het |
| Tasp1 |
A |
T |
2: 139,725,690 (GRCm39) |
|
probably null |
Het |
| Telo2 |
T |
C |
17: 25,324,066 (GRCm39) |
T550A |
probably benign |
Het |
| Tmem131l |
A |
T |
3: 83,850,122 (GRCm39) |
N225K |
probably damaging |
Het |
| Tnc |
T |
C |
4: 63,888,622 (GRCm39) |
T1724A |
possibly damaging |
Het |
| Tyk2 |
C |
A |
9: 21,020,072 (GRCm39) |
E1029* |
probably null |
Het |
| Uhmk1 |
C |
T |
1: 170,042,879 (GRCm39) |
|
probably benign |
Het |
| Vav2 |
G |
A |
2: 27,181,850 (GRCm39) |
R330W |
probably damaging |
Het |
| Vmn1r16 |
A |
T |
6: 57,300,250 (GRCm39) |
I124N |
probably benign |
Het |
| Vmn1r181 |
A |
G |
7: 23,684,444 (GRCm39) |
N303S |
probably benign |
Het |
| Vmn1r50 |
G |
A |
6: 90,085,022 (GRCm39) |
V256I |
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 |
|
|
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 |
|
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'- CTCTCCTAAGTAATTGAATGCCCAATG -3'
(R):5'- GCAGAGGAAATTAGGCTTTGTAATG -3'
Sequencing Primer
(F):5'- TGAGATAGGGCCTCATGTAGCC -3'
(R):5'- CATCAAGGCTTTCCGATC -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation