Incidental Mutation 'R7531:Depdc1a'
| ID |
583300 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Depdc1a
|
| Ensembl Gene |
ENSMUSG00000028175 |
| Gene Name |
DEP domain containing 1a |
| Synonyms |
5830484J08Rik |
| MMRRC Submission |
045603-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.114)
|
| Stock # |
R7531 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
159201070-159235592 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 159228276 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Proline
at position 343
(T343P)
|
| 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: T343P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000029825
Gene: ENSMUSG00000028175
AA Change: T343P
| 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
|
| SMART Domains |
Protein: ENSMUSP00000101656
Gene: ENSMUSG00000028175
| 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: T343P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113216
Gene: ENSMUSG00000028175
AA Change: T343P
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (54/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
A |
1: 71,286,332 (GRCm39) |
T2501S |
probably damaging |
Het |
| Abcg3 |
A |
G |
5: 105,125,507 (GRCm39) |
Y59H |
probably benign |
Het |
| Acsf2 |
G |
T |
11: 94,464,057 (GRCm39) |
|
probably null |
Het |
| Adam25 |
T |
A |
8: 41,206,914 (GRCm39) |
I60K |
probably damaging |
Het |
| Agrn |
A |
T |
4: 156,254,261 (GRCm39) |
V1729E |
probably damaging |
Het |
| Aldh9a1 |
G |
A |
1: 167,177,895 (GRCm39) |
V31I |
probably benign |
Het |
| Aqp5 |
T |
C |
15: 99,489,180 (GRCm39) |
F10L |
possibly damaging |
Het |
| Arfgap2 |
T |
A |
2: 91,104,089 (GRCm39) |
|
probably null |
Het |
| Asb7 |
T |
C |
7: 66,328,884 (GRCm39) |
H52R |
probably damaging |
Het |
| Aspa |
G |
A |
11: 73,204,351 (GRCm39) |
Q206* |
probably null |
Het |
| Bpgm |
A |
G |
6: 34,481,223 (GRCm39) |
I207V |
possibly damaging |
Het |
| Brinp2 |
A |
G |
1: 158,094,142 (GRCm39) |
S187P |
possibly damaging |
Het |
| Clec4e |
A |
G |
6: 123,262,533 (GRCm39) |
F128S |
probably benign |
Het |
| Crisp3 |
A |
G |
17: 40,545,629 (GRCm39) |
F82L |
probably benign |
Het |
| Cry2 |
A |
G |
2: 92,243,350 (GRCm39) |
L497P |
probably damaging |
Het |
| Dcxr |
A |
G |
11: 120,617,832 (GRCm39) |
V48A |
probably benign |
Het |
| Ddx11 |
A |
T |
17: 66,445,214 (GRCm39) |
T379S |
probably benign |
Het |
| Dhx36 |
T |
C |
3: 62,392,389 (GRCm39) |
I546V |
probably damaging |
Het |
| Fam114a2 |
A |
G |
11: 57,404,542 (GRCm39) |
V74A |
probably benign |
Het |
| Fcgbpl1 |
T |
C |
7: 27,839,656 (GRCm39) |
F490L |
probably benign |
Het |
| Flg2 |
A |
T |
3: 93,108,177 (GRCm39) |
R68S |
probably damaging |
Het |
| Glb1l3 |
T |
C |
9: 26,764,950 (GRCm39) |
I154V |
possibly damaging |
Het |
| Gm45844 |
T |
C |
7: 7,243,185 (GRCm39) |
T22A |
probably benign |
Het |
| Gramd2a |
A |
T |
9: 59,617,193 (GRCm39) |
I83F |
probably damaging |
Het |
| Hcn4 |
A |
G |
9: 58,767,420 (GRCm39) |
T994A |
unknown |
Het |
| Hectd1 |
C |
T |
12: 51,853,150 (GRCm39) |
V124I |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,562,531 (GRCm39) |
D2342E |
probably benign |
Het |
| Hyal6 |
A |
T |
6: 24,740,786 (GRCm39) |
H313L |
possibly damaging |
Het |
| Ifnab |
T |
A |
4: 88,609,523 (GRCm39) |
|
probably benign |
Het |
| Keap1 |
A |
G |
9: 21,148,623 (GRCm39) |
I128T |
probably benign |
Het |
| Kit |
T |
C |
5: 75,767,700 (GRCm39) |
S28P |
probably damaging |
Het |
| Krtap5-3 |
T |
A |
7: 141,755,942 (GRCm39) |
C260S |
unknown |
Het |
| Lepr |
T |
A |
4: 101,609,372 (GRCm39) |
W320R |
probably damaging |
Het |
| Lmod3 |
A |
T |
6: 97,225,403 (GRCm39) |
N139K |
probably benign |
Het |
| Marchf1 |
C |
G |
8: 66,838,989 (GRCm39) |
S10R |
probably benign |
Het |
| Naa35 |
A |
T |
13: 59,765,755 (GRCm39) |
K380* |
probably null |
Het |
| Npy1r |
C |
A |
8: 67,157,546 (GRCm39) |
F285L |
probably damaging |
Het |
| Nr1h3 |
C |
T |
2: 91,014,739 (GRCm39) |
R427H |
probably damaging |
Het |
| Or5p79 |
T |
A |
7: 108,221,269 (GRCm39) |
N83K |
probably benign |
Het |
| Pate2 |
A |
G |
9: 35,582,008 (GRCm39) |
|
probably null |
Het |
| Pcmt1 |
A |
G |
10: 7,556,369 (GRCm39) |
|
probably null |
Het |
| Prg4 |
T |
G |
1: 150,330,786 (GRCm39) |
E629A |
unknown |
Het |
| Rin2 |
T |
G |
2: 145,700,419 (GRCm39) |
S199A |
probably benign |
Het |
| Ror1 |
T |
A |
4: 100,298,388 (GRCm39) |
L587Q |
probably damaging |
Het |
| Rsl1 |
T |
A |
13: 67,324,566 (GRCm39) |
C31S |
possibly damaging |
Het |
| Scn4a |
A |
G |
11: 106,239,523 (GRCm39) |
|
probably null |
Het |
| Sema3a |
T |
C |
5: 13,615,805 (GRCm39) |
Y410H |
probably damaging |
Het |
| Smpd5 |
T |
C |
15: 76,180,539 (GRCm39) |
V447A |
probably benign |
Het |
| Tax1bp1 |
A |
T |
6: 52,723,682 (GRCm39) |
D524V |
probably benign |
Het |
| Tesc |
A |
T |
5: 118,197,523 (GRCm39) |
Y179F |
probably damaging |
Het |
| Tm9sf2 |
T |
C |
14: 122,379,824 (GRCm39) |
S292P |
possibly damaging |
Het |
| Unc45b |
A |
G |
11: 82,819,838 (GRCm39) |
D543G |
probably damaging |
Het |
| Usp4 |
T |
A |
9: 108,249,879 (GRCm39) |
V469E |
probably damaging |
Het |
| Vmn1r10 |
T |
A |
6: 57,090,924 (GRCm39) |
I172N |
possibly damaging |
Het |
| Zfyve16 |
A |
G |
13: 92,659,473 (GRCm39) |
L146S |
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 |
|
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 |
|
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'- TGTGTCCTATTGAAATGGCTTCC -3'
(R):5'- ATTATGACAGCTTCCTCCCATTATG -3'
Sequencing Primer
(F):5'- GCAACTGCTATGTGTTCTTTACTAAC -3'
(R):5'- CCCATTATGTCATTAGCACTAGC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation