Incidental Mutation 'R5455:Vstm4'
| ID |
432731 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vstm4
|
| Ensembl Gene |
ENSMUSG00000050666 |
| Gene Name |
V-set and transmembrane domain containing 4 |
| Synonyms |
E130203B14Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R5455 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
32578713-32661448 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 32585835 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 134
(H134R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055178
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053175]
|
| AlphaFold |
T1NXB5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053175
AA Change: H134R
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000055178
Gene: ENSMUSG00000050666
AA Change: H134R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
IG
|
31 |
153 |
2.11e-2 |
SMART |
|
transmembrane domain
|
178 |
200 |
N/A |
INTRINSIC |
|
low complexity region
|
245 |
261 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf1 |
T |
A |
17: 43,632,034 (GRCm39) |
|
probably null |
Het |
| Ascc3 |
T |
C |
10: 50,725,679 (GRCm39) |
V2134A |
probably benign |
Het |
| Cct6b |
T |
G |
11: 82,645,943 (GRCm39) |
I80L |
probably benign |
Het |
| Cfap20dc |
A |
T |
14: 8,536,516 (GRCm38) |
|
probably null |
Het |
| Crebbp |
C |
A |
16: 3,903,831 (GRCm39) |
V1765L |
probably benign |
Het |
| Cul9 |
C |
T |
17: 46,821,772 (GRCm39) |
|
probably null |
Het |
| Cyp2c40 |
A |
G |
19: 39,792,236 (GRCm39) |
I236T |
possibly damaging |
Het |
| Dbndd2 |
C |
A |
2: 164,332,113 (GRCm39) |
T112K |
possibly damaging |
Het |
| Dmrtc2 |
A |
C |
7: 24,571,916 (GRCm39) |
S4R |
probably benign |
Het |
| Dnah6 |
C |
T |
6: 73,052,717 (GRCm39) |
V2988I |
probably benign |
Het |
| Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
| Ercc3 |
T |
C |
18: 32,400,262 (GRCm39) |
S705P |
possibly damaging |
Het |
| Gm10306 |
T |
G |
4: 94,445,077 (GRCm39) |
|
probably benign |
Het |
| H2-Q6 |
T |
C |
17: 35,643,860 (GRCm39) |
L3P |
unknown |
Het |
| Kcnn4 |
T |
C |
7: 24,076,978 (GRCm39) |
S176P |
probably damaging |
Het |
| Maml2 |
T |
A |
9: 13,617,039 (GRCm39) |
Y128* |
probably null |
Het |
| Map2 |
G |
A |
1: 66,438,550 (GRCm39) |
E25K |
probably damaging |
Het |
| Morc2b |
T |
A |
17: 33,357,584 (GRCm39) |
M63L |
probably benign |
Het |
| Mthfd1 |
A |
G |
12: 76,348,062 (GRCm39) |
I569V |
probably benign |
Het |
| Myh8 |
G |
A |
11: 67,192,244 (GRCm39) |
R1399H |
possibly damaging |
Het |
| Nop2 |
T |
C |
6: 125,117,606 (GRCm39) |
I424T |
probably benign |
Het |
| Olfm5 |
T |
C |
7: 103,803,669 (GRCm39) |
R265G |
probably damaging |
Het |
| Opalin |
T |
C |
19: 41,058,392 (GRCm39) |
T14A |
probably benign |
Het |
| Or10j7 |
A |
G |
1: 173,011,818 (GRCm39) |
F61S |
probably damaging |
Het |
| Or7a36 |
C |
T |
10: 78,820,371 (GRCm39) |
S249F |
possibly damaging |
Het |
| Pced1b |
C |
A |
15: 97,282,274 (GRCm39) |
S104R |
probably benign |
Het |
| Pdia2 |
T |
G |
17: 26,416,137 (GRCm39) |
Q310P |
probably null |
Het |
| Ppil6 |
A |
G |
10: 41,374,541 (GRCm39) |
T141A |
probably benign |
Het |
| Prrc2b |
A |
G |
2: 32,111,355 (GRCm39) |
|
probably null |
Het |
| Stxbp5 |
A |
G |
10: 9,684,252 (GRCm39) |
S573P |
probably benign |
Het |
| Synpo2l |
C |
A |
14: 20,712,360 (GRCm39) |
A87S |
probably damaging |
Het |
| Tor1b |
GGACG |
GG |
2: 30,846,957 (GRCm39) |
|
probably benign |
Het |
| Vmn1r89 |
A |
T |
7: 12,954,194 (GRCm39) |
H121L |
probably benign |
Het |
| Vmn2r99 |
T |
A |
17: 19,614,408 (GRCm39) |
C709* |
probably null |
Het |
| Zan |
C |
T |
5: 137,452,262 (GRCm39) |
C1569Y |
unknown |
Het |
| Zdhhc13 |
A |
G |
7: 48,455,323 (GRCm39) |
T122A |
possibly damaging |
Het |
| Zpbp2 |
G |
T |
11: 98,448,429 (GRCm39) |
V249L |
probably benign |
Het |
|
| Other mutations in Vstm4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01354:Vstm4
|
APN |
14 |
32,641,202 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02720:Vstm4
|
APN |
14 |
32,585,574 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02927:Vstm4
|
APN |
14 |
32,659,745 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0122:Vstm4
|
UTSW |
14 |
32,585,768 (GRCm39) |
splice site |
probably null |
|
|
R0755:Vstm4
|
UTSW |
14 |
32,614,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1508:Vstm4
|
UTSW |
14 |
32,585,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2075:Vstm4
|
UTSW |
14 |
32,639,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2517:Vstm4
|
UTSW |
14 |
32,585,664 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3087:Vstm4
|
UTSW |
14 |
32,614,592 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R3870:Vstm4
|
UTSW |
14 |
32,585,712 (GRCm39) |
missense |
probably benign |
0.43 |
|
R4463:Vstm4
|
UTSW |
14 |
32,639,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4731:Vstm4
|
UTSW |
14 |
32,639,859 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R4732:Vstm4
|
UTSW |
14 |
32,639,859 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R4733:Vstm4
|
UTSW |
14 |
32,639,859 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R4860:Vstm4
|
UTSW |
14 |
32,585,742 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4860:Vstm4
|
UTSW |
14 |
32,585,742 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4983:Vstm4
|
UTSW |
14 |
32,641,202 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5059:Vstm4
|
UTSW |
14 |
32,585,687 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5593:Vstm4
|
UTSW |
14 |
32,641,247 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5771:Vstm4
|
UTSW |
14 |
32,626,526 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6018:Vstm4
|
UTSW |
14 |
32,585,627 (GRCm39) |
missense |
probably benign |
0.25 |
|
R6927:Vstm4
|
UTSW |
14 |
32,585,959 (GRCm39) |
splice site |
probably null |
|
|
R8920:Vstm4
|
UTSW |
14 |
32,585,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0064:Vstm4
|
UTSW |
14 |
32,585,678 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Vstm4
|
UTSW |
14 |
32,585,784 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCTTGATGGTGAAGATGACG -3'
(R):5'- TAACTTGACTCACAGGCATTTGG -3'
Sequencing Primer
(F):5'- TGACGAAGCTCCGGATAATTC -3'
(R):5'- ATTTGGCCCACAGAGGC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation