Incidental Mutation 'IGL01778:Depdc1b'
ID |
153755 |
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: 0.081)
|
Stock # |
IGL01778
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
108452592-108526100 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 108498861 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 181
(N181K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131707
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051594]
[ENSMUST00000163307]
[ENSMUST00000171178]
|
AlphaFold |
Q8BH88 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000051594
AA Change: N181K
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000059291 Gene: ENSMUSG00000021697 AA Change: N181K
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: N181K
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000131707 Gene: ENSMUSG00000021697 AA Change: N181K
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: N181K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000132972 Gene: ENSMUSG00000021697 AA Change: N181K
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actrt2 |
T |
C |
4: 154,751,162 (GRCm39) |
K325E |
probably benign |
Het |
Arc |
C |
T |
15: 74,544,204 (GRCm39) |
M6I |
probably benign |
Het |
Atp7b |
A |
T |
8: 22,484,844 (GRCm39) |
D1404E |
probably benign |
Het |
Cdk5rap1 |
T |
A |
2: 154,207,956 (GRCm39) |
N156I |
probably damaging |
Het |
Ctsa |
T |
C |
2: 164,676,230 (GRCm39) |
|
probably benign |
Het |
Epg5 |
T |
C |
18: 78,062,489 (GRCm39) |
V1994A |
probably damaging |
Het |
Epyc |
T |
A |
10: 97,517,099 (GRCm39) |
C312* |
probably null |
Het |
Erv3 |
T |
A |
2: 131,697,877 (GRCm39) |
R161* |
probably null |
Het |
Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
Gfra3 |
T |
C |
18: 34,824,644 (GRCm39) |
T280A |
possibly damaging |
Het |
Gldn |
A |
T |
9: 54,241,776 (GRCm39) |
|
probably null |
Het |
Gtf3c4 |
G |
A |
2: 28,725,100 (GRCm39) |
R211C |
probably damaging |
Het |
Hrob |
T |
C |
11: 102,146,422 (GRCm39) |
C233R |
probably benign |
Het |
Hsh2d |
A |
G |
8: 72,947,351 (GRCm39) |
D16G |
probably damaging |
Het |
Klk15 |
T |
A |
7: 43,588,262 (GRCm39) |
M190K |
probably damaging |
Het |
Klri1 |
A |
G |
6: 129,694,010 (GRCm39) |
S26P |
possibly damaging |
Het |
Krt78 |
T |
A |
15: 101,859,402 (GRCm39) |
D265V |
probably damaging |
Het |
Lgr5 |
A |
C |
10: 115,298,607 (GRCm39) |
I355S |
probably damaging |
Het |
Lig3 |
T |
A |
11: 82,685,367 (GRCm39) |
V595D |
probably damaging |
Het |
Map2k6 |
A |
C |
11: 110,403,695 (GRCm39) |
|
probably benign |
Het |
Mdm4 |
A |
G |
1: 132,922,285 (GRCm39) |
S286P |
probably benign |
Het |
Ncoa4-ps |
T |
C |
12: 119,226,231 (GRCm39) |
|
noncoding transcript |
Het |
Or2ak7 |
A |
G |
11: 58,575,095 (GRCm39) |
Y132C |
probably damaging |
Het |
Pofut1 |
T |
A |
2: 153,090,448 (GRCm39) |
M114K |
probably damaging |
Het |
Rdh13 |
C |
T |
7: 4,433,388 (GRCm39) |
|
probably null |
Het |
Reg3g |
T |
A |
6: 78,443,816 (GRCm39) |
I131F |
probably benign |
Het |
Slc26a4 |
C |
T |
12: 31,578,853 (GRCm39) |
|
probably benign |
Het |
Slc8a2 |
T |
A |
7: 15,892,818 (GRCm39) |
F827I |
probably damaging |
Het |
Slfn9 |
A |
T |
11: 82,878,200 (GRCm39) |
C310S |
probably damaging |
Het |
Sypl1 |
A |
G |
12: 33,025,641 (GRCm39) |
Y235C |
probably damaging |
Het |
Trav7-4 |
A |
T |
14: 53,699,098 (GRCm39) |
T82S |
possibly damaging |
Het |
Trim28 |
T |
A |
7: 12,764,629 (GRCm39) |
V782D |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,575,242 (GRCm39) |
T25217M |
probably damaging |
Het |
Usp6nl |
A |
G |
2: 6,432,381 (GRCm39) |
T260A |
possibly damaging |
Het |
Vmn2r54 |
A |
T |
7: 12,366,009 (GRCm39) |
N308K |
probably benign |
Het |
Xdh |
T |
C |
17: 74,207,275 (GRCm39) |
E986G |
probably benign |
Het |
Zfp770 |
T |
C |
2: 114,026,719 (GRCm39) |
D450G |
probably damaging |
Het |
Zw10 |
T |
G |
9: 48,980,915 (GRCm39) |
S438R |
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 |
|
IGL01071:Depdc1b
|
APN |
13 |
108,493,975 (GRCm39) |
missense |
probably benign |
|
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 |
2014-02-04 |