Incidental Mutation 'R1155:Vstm5'
| ID |
101663 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vstm5
|
| Ensembl Gene |
ENSMUSG00000031937 |
| Gene Name |
V-set and transmembrane domain containing 5 |
| Synonyms |
2200002K05Rik |
| MMRRC Submission |
039228-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R1155 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
15150341-15170712 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 15168849 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 138
(S138P)
|
| 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 damaging
Transcript: ENSMUST00000034413
AA Change: S138P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000034413
Gene: ENSMUSG00000031937
AA Change: S138P
| 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: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700093K21Rik |
T |
C |
11: 23,467,270 (GRCm39) |
E121G |
possibly damaging |
Het |
| Abtb3 |
A |
T |
10: 85,465,155 (GRCm39) |
H665L |
probably damaging |
Het |
| Adgrg1 |
G |
A |
8: 95,733,468 (GRCm39) |
V307I |
possibly damaging |
Het |
| Cilp |
A |
G |
9: 65,176,869 (GRCm39) |
T42A |
probably benign |
Het |
| Col6a3 |
T |
A |
1: 90,722,047 (GRCm39) |
K1493M |
probably null |
Het |
| Col6a6 |
A |
G |
9: 105,659,289 (GRCm39) |
V552A |
possibly damaging |
Het |
| Cradd |
T |
C |
10: 95,158,586 (GRCm39) |
T54A |
probably benign |
Het |
| Elfn2 |
A |
G |
15: 78,557,344 (GRCm39) |
I401T |
probably benign |
Het |
| G530012D18Rik |
CAGAGAGA |
CAGAGAGAGA |
1: 85,504,945 (GRCm39) |
|
probably null |
Het |
| Hoxc6 |
A |
G |
15: 102,919,279 (GRCm39) |
I172V |
probably damaging |
Het |
| Knl1 |
T |
C |
2: 118,901,635 (GRCm39) |
L1112P |
possibly damaging |
Het |
| Lipo4 |
T |
A |
19: 33,480,595 (GRCm39) |
I258F |
probably benign |
Het |
| Morf4l1 |
A |
G |
9: 89,976,557 (GRCm39) |
V257A |
probably benign |
Het |
| Or51a8 |
A |
T |
7: 102,549,819 (GRCm39) |
M82L |
probably benign |
Het |
| Rnpepl1 |
T |
A |
1: 92,844,609 (GRCm39) |
M367K |
probably damaging |
Het |
| Robo2 |
A |
G |
16: 73,831,996 (GRCm39) |
L228P |
probably damaging |
Het |
| Samd9l |
T |
A |
6: 3,376,939 (GRCm39) |
E107D |
probably benign |
Het |
| Shc1 |
A |
G |
3: 89,332,126 (GRCm39) |
I194V |
probably benign |
Het |
| Slc25a46 |
A |
G |
18: 31,716,668 (GRCm39) |
I278T |
probably benign |
Het |
| Tmem178 |
T |
A |
17: 81,308,429 (GRCm39) |
C275S |
possibly damaging |
Het |
| Tpsg1 |
A |
T |
17: 25,592,768 (GRCm39) |
Q40L |
possibly damaging |
Het |
| Trank1 |
A |
G |
9: 111,196,038 (GRCm39) |
E1354G |
possibly damaging |
Het |
| Vit |
T |
C |
17: 78,873,456 (GRCm39) |
I44T |
probably 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 |
|
R1721:Vstm5
|
UTSW |
9 |
15,168,663 (GRCm39) |
missense |
probably benign |
0.13 |
|
R2368:Vstm5
|
UTSW |
9 |
15,169,027 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
| Posted On |
2014-01-15 |
Incidental Mutation