Incidental Mutation 'R4254:Depdc1a'
| ID |
321732 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Depdc1a
|
| Ensembl Gene |
ENSMUSG00000028175 |
| Gene Name |
DEP domain containing 1a |
| Synonyms |
5830484J08Rik |
| MMRRC Submission |
041067-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.114)
|
| Stock # |
R4254 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
159201070-159235592 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 159204124 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 58
(R58G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101656
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029825]
[ENSMUST00000106041]
[ENSMUST00000120272]
|
| AlphaFold |
Q8CIG0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029825
AA Change: R58G
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000029825
Gene: ENSMUSG00000028175
AA Change: R58G
| 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: R58G
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000101656
Gene: ENSMUSG00000028175
AA Change: R58G
| 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 |
possibly damaging
Transcript: ENSMUST00000120272
AA Change: R58G
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000113216
Gene: ENSMUSG00000028175
AA Change: R58G
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
98% (40/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg1 |
T |
G |
8: 95,732,530 (GRCm39) |
|
probably null |
Het |
| Adgrg2 |
T |
G |
X: 159,265,404 (GRCm39) |
S551R |
possibly damaging |
Het |
| Anapc2 |
T |
C |
2: 25,163,357 (GRCm39) |
V198A |
probably benign |
Het |
| Asxl3 |
T |
C |
18: 22,657,423 (GRCm39) |
I1811T |
possibly damaging |
Het |
| Atp5mc3 |
A |
C |
2: 73,740,319 (GRCm39) |
|
probably benign |
Het |
| Ccdc27 |
A |
C |
4: 154,123,976 (GRCm39) |
S186A |
unknown |
Het |
| Ccdc28a |
A |
G |
10: 18,100,683 (GRCm39) |
L48P |
probably damaging |
Het |
| Cdh19 |
C |
T |
1: 110,852,760 (GRCm39) |
A392T |
probably damaging |
Het |
| Cfap65 |
T |
C |
1: 74,942,517 (GRCm39) |
D1679G |
probably benign |
Het |
| Copa |
C |
T |
1: 171,929,811 (GRCm39) |
R293C |
probably damaging |
Het |
| Dnah5 |
T |
A |
15: 28,438,248 (GRCm39) |
S3960T |
probably benign |
Het |
| Dsg4 |
A |
T |
18: 20,604,595 (GRCm39) |
T1021S |
probably benign |
Het |
| Hrh1 |
T |
A |
6: 114,456,962 (GRCm39) |
M81K |
probably damaging |
Het |
| Ipo11 |
G |
A |
13: 107,029,017 (GRCm39) |
T312I |
probably benign |
Het |
| Itgb2l |
T |
C |
16: 96,231,777 (GRCm39) |
N330D |
probably benign |
Het |
| Itsn1 |
G |
A |
16: 91,615,440 (GRCm39) |
|
probably benign |
Het |
| Kcnb1 |
A |
G |
2: 166,947,651 (GRCm39) |
I399T |
probably damaging |
Het |
| Muc13 |
G |
A |
16: 33,636,221 (GRCm39) |
M568I |
probably benign |
Het |
| Nlrp1a |
A |
C |
11: 71,013,854 (GRCm39) |
Y465* |
probably null |
Het |
| Nwd2 |
G |
A |
5: 63,963,889 (GRCm39) |
V1158I |
possibly damaging |
Het |
| Or2h1b |
A |
G |
17: 37,462,530 (GRCm39) |
I111T |
possibly damaging |
Het |
| Or5d14 |
C |
T |
2: 87,880,123 (GRCm39) |
V282I |
possibly damaging |
Het |
| Or8b101 |
T |
A |
9: 38,020,546 (GRCm39) |
L183H |
probably damaging |
Het |
| Ptprr |
T |
A |
10: 115,998,348 (GRCm39) |
|
probably null |
Het |
| Rasd2 |
G |
A |
8: 75,948,538 (GRCm39) |
E155K |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Serinc3 |
T |
A |
2: 163,478,888 (GRCm39) |
M80L |
probably benign |
Het |
| Sf1 |
T |
C |
19: 6,421,677 (GRCm39) |
V140A |
probably damaging |
Het |
| Slc15a2 |
A |
T |
16: 36,574,852 (GRCm39) |
V519E |
probably benign |
Het |
| Slc16a10 |
A |
G |
10: 39,952,997 (GRCm39) |
Y166H |
probably damaging |
Het |
| Slc38a1 |
T |
C |
15: 96,483,431 (GRCm39) |
D299G |
probably benign |
Het |
| Smim29 |
A |
T |
17: 27,784,696 (GRCm39) |
|
probably null |
Het |
| Tmbim1 |
C |
A |
1: 74,333,090 (GRCm39) |
V92F |
probably damaging |
Het |
| Vsig4 |
C |
A |
X: 95,334,107 (GRCm39) |
R134L |
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTCCTAAGTAATTGAATGCCCAATG -3'
(R):5'- GCAGAGGAAATTAGGCTTTGTAATG -3'
Sequencing Primer
(F):5'- TGAGATAGGGCCTCATGTAGCC -3'
(R):5'- CATCAAGGCTTTCCGATC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation