Incidental Mutation 'IGL01071:Depdc1b'
| ID |
52532 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Depdc1b
|
| Ensembl Gene |
ENSMUSG00000021697 |
| Gene Name |
DEP domain containing 1B |
| Synonyms |
XTP1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
IGL01071
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
108452592-108526100 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 108493975 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 121
(Y121F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132972
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051594]
[ENSMUST00000163307]
[ENSMUST00000171178]
|
| AlphaFold |
Q8BH88 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051594
AA Change: Y121F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000059291
Gene: ENSMUSG00000021697
AA Change: Y121F
| Domain | Start | End | E-Value | Type |
|---|
|
DEP
|
24 |
108 |
4.36e-20 |
SMART |
|
Pfam:RhoGAP
|
267 |
347 |
8.3e-10 |
PFAM |
|
low complexity region
|
464 |
480 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163307
AA Change: Y121F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000131707
Gene: ENSMUSG00000021697
AA Change: Y121F
| Domain | Start | End | E-Value | Type |
|---|
|
DEP
|
24 |
108 |
4.36e-20 |
SMART |
|
Pfam:RhoGAP
|
264 |
347 |
7.9e-10 |
PFAM |
|
low complexity region
|
464 |
480 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167413
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171178
AA Change: Y121F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000132972
Gene: ENSMUSG00000021697
AA Change: Y121F
| Domain | Start | End | E-Value | Type |
|---|
|
DEP
|
24 |
108 |
4.36e-20 |
SMART |
|
Pfam:RhoGAP
|
264 |
347 |
9.1e-10 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172402
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930544G11Rik |
A |
C |
6: 65,930,137 (GRCm39) |
D124A |
probably damaging |
Het |
| Arhgef17 |
C |
A |
7: 100,534,907 (GRCm39) |
V1137L |
probably damaging |
Het |
| Birc6 |
A |
G |
17: 74,873,127 (GRCm39) |
D462G |
possibly damaging |
Het |
| Birc6 |
A |
T |
17: 74,938,696 (GRCm39) |
N2701Y |
probably damaging |
Het |
| Cadps |
C |
T |
14: 12,509,091 (GRCm38) |
|
probably null |
Het |
| Camk2a |
T |
C |
18: 61,113,228 (GRCm39) |
|
probably null |
Het |
| Capn10 |
T |
A |
1: 92,872,797 (GRCm39) |
W508R |
probably damaging |
Het |
| Cntn3 |
A |
T |
6: 102,397,212 (GRCm39) |
|
probably null |
Het |
| Crisp4 |
A |
G |
1: 18,207,231 (GRCm39) |
V19A |
probably benign |
Het |
| Dsg1b |
T |
A |
18: 20,542,272 (GRCm39) |
S926R |
probably damaging |
Het |
| Eml6 |
A |
G |
11: 29,800,816 (GRCm39) |
|
probably null |
Het |
| Gm26938 |
A |
C |
5: 139,794,228 (GRCm39) |
V117G |
possibly damaging |
Het |
| Keg1 |
T |
A |
19: 12,696,364 (GRCm39) |
Y183N |
probably damaging |
Het |
| Mpi |
A |
T |
9: 57,457,875 (GRCm39) |
I109N |
probably damaging |
Het |
| Or12j3 |
C |
T |
7: 139,953,098 (GRCm39) |
A142T |
probably benign |
Het |
| Or13a20 |
C |
T |
7: 140,232,827 (GRCm39) |
H312Y |
possibly damaging |
Het |
| Or14a259 |
T |
C |
7: 86,012,768 (GRCm39) |
K259R |
possibly damaging |
Het |
| Or4c112 |
A |
G |
2: 88,853,519 (GRCm39) |
V276A |
probably benign |
Het |
| Pcdhb20 |
A |
G |
18: 37,637,738 (GRCm39) |
E88G |
possibly damaging |
Het |
| Pde6b |
G |
A |
5: 108,567,581 (GRCm39) |
W290* |
probably null |
Het |
| Phf20 |
T |
A |
2: 156,136,008 (GRCm39) |
|
probably null |
Het |
| Pkd1l1 |
A |
T |
11: 8,798,921 (GRCm39) |
H1830Q |
probably benign |
Het |
| Proc |
T |
C |
18: 32,256,770 (GRCm39) |
D299G |
probably damaging |
Het |
| Psmd14 |
A |
G |
2: 61,630,407 (GRCm39) |
T306A |
probably benign |
Het |
| Rab32 |
G |
A |
10: 10,433,591 (GRCm39) |
A81V |
probably damaging |
Het |
| Samd14 |
G |
A |
11: 94,912,294 (GRCm39) |
|
probably benign |
Het |
| Sh3rf1 |
T |
A |
8: 61,678,993 (GRCm39) |
C12S |
probably damaging |
Het |
| Sipa1l3 |
C |
T |
7: 29,023,645 (GRCm39) |
V663M |
possibly damaging |
Het |
| Slc2a5 |
A |
G |
4: 150,205,190 (GRCm39) |
|
probably benign |
Het |
| Tasor |
T |
A |
14: 27,164,579 (GRCm39) |
|
probably null |
Het |
| Tbkbp1 |
T |
C |
11: 97,040,388 (GRCm39) |
I9V |
probably damaging |
Het |
| Trip10 |
C |
A |
17: 57,561,332 (GRCm39) |
R196S |
possibly damaging |
Het |
| Vav1 |
T |
C |
17: 57,606,176 (GRCm39) |
Y267H |
probably benign |
Het |
| Wdr1 |
T |
C |
5: 38,687,410 (GRCm39) |
K207R |
probably benign |
Het |
|
| Other mutations in Depdc1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00475:Depdc1b
|
APN |
13 |
108,493,974 (GRCm39) |
missense |
probably benign |
|
|
IGL01778:Depdc1b
|
APN |
13 |
108,498,861 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02368:Depdc1b
|
APN |
13 |
108,500,113 (GRCm39) |
missense |
probably benign |
|
|
R0310:Depdc1b
|
UTSW |
13 |
108,510,375 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0483:Depdc1b
|
UTSW |
13 |
108,510,382 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0650:Depdc1b
|
UTSW |
13 |
108,460,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0900:Depdc1b
|
UTSW |
13 |
108,498,794 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R0932:Depdc1b
|
UTSW |
13 |
108,523,369 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1757:Depdc1b
|
UTSW |
13 |
108,460,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2174:Depdc1b
|
UTSW |
13 |
108,498,787 (GRCm39) |
nonsense |
probably null |
|
|
R2308:Depdc1b
|
UTSW |
13 |
108,510,375 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R3941:Depdc1b
|
UTSW |
13 |
108,505,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4213:Depdc1b
|
UTSW |
13 |
108,525,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4613:Depdc1b
|
UTSW |
13 |
108,500,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4771:Depdc1b
|
UTSW |
13 |
108,519,434 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5224:Depdc1b
|
UTSW |
13 |
108,521,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5292:Depdc1b
|
UTSW |
13 |
108,510,376 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6241:Depdc1b
|
UTSW |
13 |
108,460,653 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6399:Depdc1b
|
UTSW |
13 |
108,460,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6418:Depdc1b
|
UTSW |
13 |
108,493,956 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7078:Depdc1b
|
UTSW |
13 |
108,523,505 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7120:Depdc1b
|
UTSW |
13 |
108,498,781 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7127:Depdc1b
|
UTSW |
13 |
108,460,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7209:Depdc1b
|
UTSW |
13 |
108,519,389 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R7385:Depdc1b
|
UTSW |
13 |
108,500,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8098:Depdc1b
|
UTSW |
13 |
108,460,593 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8552:Depdc1b
|
UTSW |
13 |
108,493,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8825:Depdc1b
|
UTSW |
13 |
108,521,316 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R8975:Depdc1b
|
UTSW |
13 |
108,525,094 (GRCm39) |
missense |
probably null |
0.00 |
|
R9648:Depdc1b
|
UTSW |
13 |
108,460,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-06-21 |
Incidental Mutation