Incidental Mutation 'R6399:Depdc1b'
| ID |
516108 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Depdc1b
|
| Ensembl Gene |
ENSMUSG00000021697 |
| Gene Name |
DEP domain containing 1B |
| Synonyms |
XTP1 |
| MMRRC Submission |
044546-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R6399 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
108452592-108526100 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 108460580 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 63
(F63L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131707
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051594]
[ENSMUST00000163307]
[ENSMUST00000171178]
|
| AlphaFold |
Q8BH88 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000051594
AA Change: F63L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000059291
Gene: ENSMUSG00000021697
AA Change: F63L
| 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 damaging
Transcript: ENSMUST00000163307
AA Change: F63L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000131707
Gene: ENSMUSG00000021697
AA Change: F63L
| 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 |
noncoding transcript
Transcript: ENSMUST00000168037
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000171178
AA Change: F63L
PolyPhen 2
Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000132972
Gene: ENSMUSG00000021697
AA Change: F63L
| Domain | Start | End | E-Value | Type |
|---|
|
DEP
|
24 |
108 |
4.36e-20 |
SMART |
|
Pfam:RhoGAP
|
264 |
347 |
9.1e-10 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 98.9%
- 20x: 95.7%
|
| Validation Efficiency |
97% (28/29) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
T |
C |
5: 138,645,821 (GRCm39) |
C569R |
probably damaging |
Het |
| Acadsb |
T |
A |
7: 131,031,784 (GRCm39) |
W207R |
probably damaging |
Het |
| Apbb2 |
C |
T |
5: 66,608,810 (GRCm39) |
|
probably null |
Het |
| Atad2b |
T |
C |
12: 5,007,558 (GRCm39) |
V415A |
probably damaging |
Het |
| Ccdc150 |
G |
A |
1: 54,303,116 (GRCm39) |
|
probably null |
Het |
| Cep20 |
TTGTG |
TTG |
16: 14,118,009 (GRCm39) |
|
probably null |
Het |
| Chd7 |
A |
G |
4: 8,828,274 (GRCm39) |
T1072A |
probably damaging |
Het |
| Dnah2 |
C |
T |
11: 69,349,344 (GRCm39) |
V2431M |
probably damaging |
Het |
| Dnajc14 |
A |
G |
10: 128,643,359 (GRCm39) |
E427G |
probably damaging |
Het |
| Flnc |
A |
G |
6: 29,458,882 (GRCm39) |
E2421G |
probably damaging |
Het |
| Kcna4 |
T |
C |
2: 107,126,894 (GRCm39) |
S543P |
probably damaging |
Het |
| Lrrc30 |
T |
A |
17: 67,939,681 (GRCm39) |
|
probably benign |
Het |
| Msh6 |
T |
A |
17: 88,294,319 (GRCm39) |
S1025T |
probably damaging |
Het |
| Ndrg3 |
C |
G |
2: 156,782,294 (GRCm39) |
A191P |
probably damaging |
Het |
| Or1o4 |
T |
C |
17: 37,590,666 (GRCm39) |
Y215C |
probably damaging |
Het |
| Or5aq7 |
C |
T |
2: 86,938,330 (GRCm39) |
V134I |
probably benign |
Het |
| Or5p5 |
A |
G |
7: 107,413,961 (GRCm39) |
T57A |
possibly damaging |
Het |
| Pls1 |
A |
G |
9: 95,636,798 (GRCm39) |
I558T |
probably damaging |
Het |
| Rnf34 |
T |
C |
5: 122,999,839 (GRCm39) |
F32L |
probably benign |
Het |
| Serpinb9g |
A |
T |
13: 33,676,834 (GRCm39) |
L205F |
probably benign |
Het |
| Tbc1d24 |
T |
A |
17: 24,427,303 (GRCm39) |
I220F |
probably damaging |
Het |
| Thsd7b |
A |
T |
1: 129,744,385 (GRCm39) |
T758S |
probably benign |
Het |
| Trak1 |
A |
G |
9: 121,282,562 (GRCm39) |
|
probably null |
Het |
| Ttn |
G |
C |
2: 76,556,407 (GRCm39) |
F30199L |
probably benign |
Het |
| Ttn |
T |
G |
2: 76,556,406 (GRCm39) |
S30200R |
probably damaging |
Het |
| Uggt1 |
T |
C |
1: 36,202,447 (GRCm39) |
D1050G |
possibly damaging |
Het |
| Veph1 |
T |
A |
3: 66,033,312 (GRCm39) |
S605C |
probably benign |
Het |
| Wbp1 |
A |
G |
6: 83,096,982 (GRCm39) |
|
probably benign |
Het |
| Ythdc2 |
C |
A |
18: 45,019,469 (GRCm39) |
Q1413K |
possibly damaging |
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 |
|
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 |
|
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'- GATGACTAAATAGAAGCTCTTGTGTCC -3'
(R):5'- TTCAGTGGACACAGCAAATTCTTTC -3'
Sequencing Primer
(F):5'- GTCCTTTGCCTAGTGGAATGAAACAG -3'
(R):5'- CAGCAAATTCTTTCACTTCGGGAAG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation