Incidental Mutation 'R0900:Depdc1b'
| ID |
83855 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R0900 (G1)
|
| Quality Score |
206 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
108452592-108526100 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 108498794 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 159
(H159L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131707
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051594]
[ENSMUST00000163307]
[ENSMUST00000171178]
|
| AlphaFold |
Q8BH88 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000051594
AA Change: H159L
PolyPhen 2
Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000059291
Gene: ENSMUSG00000021697
AA Change: H159L
| 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 |
possibly damaging
Transcript: ENSMUST00000163307
AA Change: H159L
PolyPhen 2
Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000131707
Gene: ENSMUSG00000021697
AA Change: H159L
| 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: H159L
PolyPhen 2
Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000132972
Gene: ENSMUSG00000021697
AA Change: H159L
| 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 |
- 1x: 99.5%
- 3x: 99.1%
- 10x: 98.0%
- 20x: 96.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
A |
T |
12: 118,904,359 (GRCm39) |
F144I |
probably damaging |
Het |
| Als2cl |
A |
G |
9: 110,719,496 (GRCm39) |
R468G |
possibly damaging |
Het |
| Arsk |
C |
A |
13: 76,246,576 (GRCm39) |
|
probably benign |
Het |
| Cacna1d |
T |
C |
14: 29,833,039 (GRCm39) |
H912R |
probably damaging |
Het |
| Ccr1 |
A |
T |
9: 123,764,371 (GRCm39) |
V53D |
possibly damaging |
Het |
| Cfap91 |
G |
A |
16: 38,156,764 (GRCm39) |
S47L |
possibly damaging |
Het |
| Clec2d |
G |
A |
6: 129,160,076 (GRCm39) |
R30K |
probably benign |
Het |
| Col12a1 |
A |
G |
9: 79,591,535 (GRCm39) |
V975A |
possibly damaging |
Het |
| Col4a1 |
AGCCAGGGATGCCAGG |
AGCCAGG |
8: 11,268,014 (GRCm39) |
|
probably benign |
Het |
| Cul7 |
T |
C |
17: 46,969,263 (GRCm39) |
S907P |
probably benign |
Het |
| Dhx57 |
T |
C |
17: 80,583,011 (GRCm39) |
H198R |
probably benign |
Het |
| Dpp7 |
T |
C |
2: 25,246,311 (GRCm39) |
D10G |
probably damaging |
Het |
| Esp18 |
G |
A |
17: 39,719,023 (GRCm39) |
M7I |
possibly damaging |
Het |
| Fam120a |
G |
T |
13: 49,039,219 (GRCm39) |
A979E |
possibly damaging |
Het |
| Fam167a |
A |
G |
14: 63,689,828 (GRCm39) |
T42A |
probably damaging |
Het |
| Gm973 |
A |
G |
1: 59,605,827 (GRCm39) |
R553G |
probably benign |
Het |
| Ift140 |
T |
A |
17: 25,254,786 (GRCm39) |
I422N |
probably benign |
Het |
| Jag1 |
CTTT |
CTTTT |
2: 136,932,802 (GRCm39) |
|
probably null |
Het |
| Limk2 |
A |
G |
11: 3,300,731 (GRCm39) |
F204L |
probably damaging |
Het |
| Lmo7 |
A |
G |
14: 102,124,624 (GRCm39) |
D361G |
probably damaging |
Het |
| Muc2 |
CGTG |
CGTGTG |
7: 141,699,185 (GRCm38) |
|
probably null |
Het |
| Nup98 |
T |
A |
7: 101,809,923 (GRCm39) |
T536S |
probably damaging |
Het |
| Or52e2 |
T |
A |
7: 102,804,520 (GRCm39) |
M145L |
probably benign |
Het |
| Parp14 |
G |
A |
16: 35,677,130 (GRCm39) |
A946V |
probably benign |
Het |
| Pcdh18 |
A |
T |
3: 49,711,252 (GRCm39) |
F21Y |
probably benign |
Het |
| Pcna-ps2 |
T |
A |
19: 9,261,487 (GRCm39) |
Y249N |
probably damaging |
Het |
| Prkce |
A |
T |
17: 86,932,886 (GRCm39) |
D622V |
probably damaging |
Het |
| Prss47 |
A |
C |
13: 65,197,208 (GRCm39) |
V176G |
possibly damaging |
Het |
| Prss55 |
C |
T |
14: 64,314,627 (GRCm39) |
R181H |
probably benign |
Het |
| Prtg |
A |
T |
9: 72,752,225 (GRCm39) |
I204L |
probably benign |
Het |
| Pura |
T |
C |
18: 36,420,720 (GRCm39) |
I169T |
probably damaging |
Het |
| Rttn |
C |
T |
18: 89,119,815 (GRCm39) |
T1750I |
probably benign |
Het |
| Slc25a26 |
T |
A |
6: 94,484,639 (GRCm39) |
S60T |
probably damaging |
Het |
| Tktl2 |
G |
A |
8: 66,964,999 (GRCm39) |
V186M |
probably damaging |
Het |
| Tmem94 |
T |
A |
11: 115,682,804 (GRCm39) |
C614S |
probably benign |
Het |
| Trim12a |
T |
C |
7: 103,953,469 (GRCm39) |
N214S |
probably benign |
Het |
| Ube3c |
T |
C |
5: 29,806,344 (GRCm39) |
Y329H |
probably benign |
Het |
| Ubxn2a |
T |
C |
12: 4,952,257 (GRCm39) |
K2E |
probably damaging |
Het |
| Unc80 |
A |
T |
1: 66,710,757 (GRCm39) |
E2675D |
probably benign |
Het |
| Usf3 |
C |
T |
16: 44,036,321 (GRCm39) |
P267L |
probably benign |
Het |
| Vmn1r129 |
A |
T |
7: 21,094,635 (GRCm39) |
Y194* |
probably null |
Het |
| Zfp750 |
T |
C |
11: 121,403,807 (GRCm39) |
E356G |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTACTTCTCTGAGCCCATGCAAAG -3'
(R):5'- AGTGCTACTCAAAGGTTAGCGACG -3'
Sequencing Primer
(F):5'- CCAGTCAAATTTCAAGTAGGCAAGTC -3'
(R):5'- tgtaatcccagcacccaaag -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation