Incidental Mutation 'R2368:Vstm5'
ID |
246402 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vstm5
|
Ensembl Gene |
ENSMUSG00000031937 |
Gene Name |
V-set and transmembrane domain containing 5 |
Synonyms |
2200002K05Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.077)
|
Stock # |
R2368 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
15150341-15170712 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 15169027 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 166
(M166L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034413
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034411]
[ENSMUST00000034413]
[ENSMUST00000213788]
|
AlphaFold |
Q9D806 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034411
|
SMART Domains |
Protein: ENSMUSP00000034411 Gene: ENSMUSG00000031935
Domain | Start | End | E-Value | Type |
low complexity region
|
51 |
82 |
N/A |
INTRINSIC |
Pfam:Med17
|
123 |
452 |
8.5e-13 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000034413
AA Change: M166L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000034413 Gene: ENSMUSG00000031937 AA Change: M166L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
IG
|
39 |
138 |
2e-3 |
SMART |
transmembrane domain
|
147 |
169 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000213788
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 18 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arid2 |
A |
G |
15: 96,247,893 (GRCm39) |
K102E |
possibly damaging |
Het |
Bsn |
G |
A |
9: 107,988,229 (GRCm39) |
Q2508* |
probably null |
Het |
Cc2d2a |
A |
G |
5: 43,861,230 (GRCm39) |
T549A |
probably benign |
Het |
Lyst |
A |
T |
13: 13,871,248 (GRCm39) |
S2662C |
probably damaging |
Het |
Nek9 |
A |
G |
12: 85,376,661 (GRCm39) |
V240A |
possibly damaging |
Het |
Nol4l |
T |
C |
2: 153,259,959 (GRCm39) |
D165G |
probably damaging |
Het |
Or10ak12 |
A |
G |
4: 118,667,019 (GRCm39) |
V14A |
probably benign |
Het |
Or14j5 |
A |
T |
17: 38,161,509 (GRCm39) |
M9L |
probably benign |
Het |
Or5p69 |
A |
G |
7: 107,967,576 (GRCm39) |
Y293C |
probably damaging |
Het |
Or8h8 |
A |
T |
2: 86,753,451 (GRCm39) |
Y142N |
probably benign |
Het |
Plin5 |
T |
C |
17: 56,422,588 (GRCm39) |
E116G |
probably damaging |
Het |
Slc35d2 |
C |
T |
13: 64,277,119 (GRCm39) |
M1I |
probably null |
Het |
Srgap1 |
A |
T |
10: 121,665,194 (GRCm39) |
S493T |
probably benign |
Het |
Syt9 |
T |
A |
7: 107,035,906 (GRCm39) |
Y308N |
probably damaging |
Het |
Ttc23l |
CT |
CTTGGATT |
15: 10,537,648 (GRCm39) |
|
probably benign |
Het |
Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
Vmn2r74 |
C |
T |
7: 85,610,522 (GRCm39) |
D57N |
probably benign |
Het |
Zbtb12 |
T |
C |
17: 35,114,674 (GRCm39) |
L153P |
possibly damaging |
Het |
|
Other mutations in Vstm5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01597:Vstm5
|
APN |
9 |
15,168,675 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01781:Vstm5
|
APN |
9 |
15,168,968 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02940:Vstm5
|
APN |
9 |
15,168,962 (GRCm39) |
missense |
probably damaging |
1.00 |
R1155:Vstm5
|
UTSW |
9 |
15,168,849 (GRCm39) |
missense |
probably damaging |
1.00 |
R1721:Vstm5
|
UTSW |
9 |
15,168,663 (GRCm39) |
missense |
probably benign |
0.13 |
R3160:Vstm5
|
UTSW |
9 |
15,168,594 (GRCm39) |
missense |
probably benign |
0.02 |
R3161:Vstm5
|
UTSW |
9 |
15,168,594 (GRCm39) |
missense |
probably benign |
0.02 |
R3162:Vstm5
|
UTSW |
9 |
15,168,594 (GRCm39) |
missense |
probably benign |
0.02 |
R4612:Vstm5
|
UTSW |
9 |
15,168,789 (GRCm39) |
missense |
probably benign |
0.22 |
R4692:Vstm5
|
UTSW |
9 |
15,168,718 (GRCm39) |
missense |
probably damaging |
0.99 |
R4950:Vstm5
|
UTSW |
9 |
15,169,090 (GRCm39) |
splice site |
probably null |
|
R5088:Vstm5
|
UTSW |
9 |
15,168,601 (GRCm39) |
missense |
possibly damaging |
0.87 |
R6351:Vstm5
|
UTSW |
9 |
15,168,829 (GRCm39) |
missense |
probably damaging |
1.00 |
R7063:Vstm5
|
UTSW |
9 |
15,150,549 (GRCm39) |
start gained |
probably benign |
|
R7720:Vstm5
|
UTSW |
9 |
15,150,652 (GRCm39) |
missense |
probably benign |
0.08 |
R9300:Vstm5
|
UTSW |
9 |
15,168,585 (GRCm39) |
missense |
probably damaging |
1.00 |
R9491:Vstm5
|
UTSW |
9 |
15,168,586 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- GTCACTGTCACAGAGCATCC -3'
(R):5'- AAGAGGTTGAAAATCTGTCACCC -3'
Sequencing Primer
(F):5'- TGTGTCTGGTAAGAGAGCCCC -3'
(R):5'- GTTGAAAATCTGTCACCCAGTGG -3'
|
Posted On |
2014-10-30 |