Incidental Mutation 'R3087:Vstm4'
| ID |
262874 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vstm4
|
| Ensembl Gene |
ENSMUSG00000050666 |
| Gene Name |
V-set and transmembrane domain containing 4 |
| Synonyms |
E130203B14Rik |
| MMRRC Submission |
040576-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R3087 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
32578713-32661448 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 32614592 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 178
(V178A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055178
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053175]
[ENSMUST00000100721]
|
| AlphaFold |
T1NXB5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053175
AA Change: V178A
PolyPhen 2
Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000055178
Gene: ENSMUSG00000050666
AA Change: V178A
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100721
AA Change: V29A
PolyPhen 2
Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000098287
Gene: ENSMUSG00000050666
AA Change: V29A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
29 |
51 |
N/A |
INTRINSIC |
|
low complexity region
|
96 |
112 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1453 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
97% (29/30) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aknad1 |
C |
T |
3: 108,664,179 (GRCm39) |
Q381* |
probably null |
Het |
| Arhgef39 |
C |
T |
4: 43,497,581 (GRCm39) |
|
probably null |
Het |
| Cblif |
A |
T |
19: 11,737,737 (GRCm39) |
K383* |
probably null |
Het |
| Ccdc85a |
G |
T |
11: 28,342,857 (GRCm39) |
C113* |
probably null |
Het |
| Cdc16 |
T |
C |
8: 13,809,004 (GRCm39) |
Y19H |
probably damaging |
Het |
| Ces2e |
T |
A |
8: 105,657,347 (GRCm39) |
M289K |
probably benign |
Het |
| Cyp2u1 |
G |
A |
3: 131,096,676 (GRCm39) |
A34V |
probably benign |
Het |
| Dkk2 |
A |
C |
3: 131,791,900 (GRCm39) |
N36T |
probably damaging |
Het |
| Fam222a |
A |
G |
5: 114,750,015 (GRCm39) |
S404G |
probably damaging |
Het |
| Fbll1 |
A |
T |
11: 35,689,017 (GRCm39) |
V82E |
probably damaging |
Het |
| Flt3 |
A |
G |
5: 147,284,856 (GRCm39) |
S754P |
probably benign |
Het |
| Fmo5 |
T |
C |
3: 97,549,011 (GRCm39) |
W220R |
probably damaging |
Het |
| Gm7275 |
A |
G |
16: 47,894,098 (GRCm39) |
|
noncoding transcript |
Het |
| Gmeb2 |
G |
T |
2: 180,897,433 (GRCm39) |
|
probably benign |
Het |
| Ifi44l |
T |
C |
3: 151,468,494 (GRCm39) |
H12R |
unknown |
Het |
| Itsn2 |
T |
C |
12: 4,716,303 (GRCm39) |
Y1021H |
probably damaging |
Het |
| Map4 |
T |
C |
9: 109,882,257 (GRCm39) |
S374P |
possibly damaging |
Het |
| Map4k4 |
A |
T |
1: 40,060,242 (GRCm39) |
|
probably null |
Het |
| Mast4 |
G |
T |
13: 102,990,434 (GRCm39) |
|
probably benign |
Het |
| Mdfic |
T |
A |
6: 15,799,668 (GRCm39) |
L265H |
probably damaging |
Het |
| Pabpc2 |
A |
G |
18: 39,907,319 (GRCm39) |
I195V |
probably benign |
Het |
| Pramel25 |
A |
G |
4: 143,520,416 (GRCm39) |
D56G |
probably benign |
Het |
| Prdm1 |
T |
C |
10: 44,322,823 (GRCm39) |
Y224C |
probably damaging |
Het |
| Spidr |
T |
C |
16: 15,786,483 (GRCm39) |
Y420C |
probably damaging |
Het |
| Tlr6 |
A |
T |
5: 65,111,668 (GRCm39) |
M413K |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
| Vmn1r11 |
A |
C |
6: 57,114,691 (GRCm39) |
K81N |
possibly damaging |
Het |
| Vmn2r107 |
G |
A |
17: 20,580,607 (GRCm39) |
E515K |
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 |
|
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 |
|
R5455:Vstm4
|
UTSW |
14 |
32,585,835 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
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'- AGGGAGGATGCTTCTGATGAC -3'
(R):5'- GTAAACAATTGCTGACCCAGG -3'
Sequencing Primer
(F):5'- CTGATGACAAGTCTAGGCACTCTG -3'
(R):5'- AATTGCTGACCCAGGATGCC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation