Incidental Mutation 'R6655:Veph1'
| ID |
526581 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Veph1
|
| Ensembl Gene |
ENSMUSG00000027831 |
| Gene Name |
ventricular zone expressed PH domain-containing 1 |
| Synonyms |
2810471M23Rik, Veph |
| MMRRC Submission |
044776-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6655 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
65960979-66204258 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 66113034 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 257
(I257F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029419
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029419]
|
| AlphaFold |
A1A535 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029419
AA Change: I257F
PolyPhen 2
Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000029419
Gene: ENSMUSG00000027831
AA Change: I257F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
59 |
76 |
N/A |
INTRINSIC |
|
Blast:PH
|
586 |
626 |
1e-5 |
BLAST |
|
PH
|
717 |
821 |
1.44e-14 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a disruption in this gene appear normal. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AAdacl4fm3 |
T |
A |
4: 144,431,815 (GRCm39) |
D130V |
probably damaging |
Het |
| Akr1b1 |
C |
T |
6: 34,286,939 (GRCm39) |
V206M |
possibly damaging |
Het |
| Alg3 |
T |
A |
16: 20,427,776 (GRCm39) |
Y12F |
probably benign |
Het |
| Arhgef28 |
A |
G |
13: 98,036,163 (GRCm39) |
Y1699H |
probably damaging |
Het |
| Cd109 |
A |
G |
9: 78,592,220 (GRCm39) |
D778G |
probably benign |
Het |
| Dlc1 |
A |
G |
8: 37,039,870 (GRCm39) |
V1430A |
probably damaging |
Het |
| Dscaml1 |
G |
A |
9: 45,658,235 (GRCm39) |
V1669I |
probably benign |
Het |
| Fkbp8 |
A |
G |
8: 70,985,320 (GRCm39) |
Y278C |
probably damaging |
Het |
| Gm5160 |
T |
C |
18: 14,558,187 (GRCm39) |
F88S |
possibly damaging |
Het |
| Kcnh1 |
A |
G |
1: 192,095,391 (GRCm39) |
N483S |
possibly damaging |
Het |
| Lrp2 |
A |
G |
2: 69,284,202 (GRCm39) |
S3859P |
probably benign |
Het |
| Myof |
T |
C |
19: 37,923,239 (GRCm39) |
N1351S |
probably damaging |
Het |
| Nbn |
A |
G |
4: 15,981,696 (GRCm39) |
E596G |
probably damaging |
Het |
| Neurl4 |
T |
C |
11: 69,801,742 (GRCm39) |
|
probably null |
Het |
| Nol8 |
T |
C |
13: 49,807,868 (GRCm39) |
L10P |
probably damaging |
Het |
| Or2t46 |
T |
A |
11: 58,472,036 (GRCm39) |
M122K |
probably damaging |
Het |
| Or6c213 |
T |
C |
10: 129,573,956 (GRCm39) |
T277A |
possibly damaging |
Het |
| Pex26 |
T |
C |
6: 121,167,170 (GRCm39) |
|
probably benign |
Het |
| Rab3gap2 |
T |
C |
1: 184,982,208 (GRCm39) |
M420T |
probably damaging |
Het |
| Samd9l |
C |
A |
6: 3,377,247 (GRCm39) |
V5L |
probably benign |
Het |
| Sec22b |
T |
A |
3: 97,821,964 (GRCm39) |
|
probably null |
Het |
| Shank1 |
A |
G |
7: 43,976,644 (GRCm39) |
I581V |
unknown |
Het |
| Ssbp2 |
C |
T |
13: 91,812,268 (GRCm39) |
P105L |
probably damaging |
Het |
| Ttll9 |
T |
C |
2: 152,842,223 (GRCm39) |
|
probably null |
Het |
| Vmn1r222 |
A |
C |
13: 23,416,886 (GRCm39) |
I109S |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Wnt16 |
T |
C |
6: 22,290,965 (GRCm39) |
V131A |
probably damaging |
Het |
| Zfp747l1 |
A |
G |
7: 126,983,512 (GRCm39) |
L530P |
possibly damaging |
Het |
|
| Other mutations in Veph1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00755:Veph1
|
APN |
3 |
66,162,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01539:Veph1
|
APN |
3 |
66,065,496 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01746:Veph1
|
APN |
3 |
66,065,508 (GRCm39) |
missense |
probably benign |
|
|
IGL02055:Veph1
|
APN |
3 |
66,113,048 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02504:Veph1
|
APN |
3 |
66,079,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02610:Veph1
|
APN |
3 |
66,079,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02647:Veph1
|
APN |
3 |
66,066,869 (GRCm39) |
splice site |
probably benign |
|
|
IGL03279:Veph1
|
APN |
3 |
66,162,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0317:Veph1
|
UTSW |
3 |
66,079,396 (GRCm39) |
missense |
probably benign |
|
|
R0318:Veph1
|
UTSW |
3 |
65,964,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0418:Veph1
|
UTSW |
3 |
66,162,449 (GRCm39) |
nonsense |
probably null |
|
|
R1913:Veph1
|
UTSW |
3 |
66,151,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2081:Veph1
|
UTSW |
3 |
65,968,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2116:Veph1
|
UTSW |
3 |
65,964,610 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3622:Veph1
|
UTSW |
3 |
66,122,858 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3623:Veph1
|
UTSW |
3 |
66,122,858 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3624:Veph1
|
UTSW |
3 |
66,122,858 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3829:Veph1
|
UTSW |
3 |
66,066,748 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3862:Veph1
|
UTSW |
3 |
66,162,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3974:Veph1
|
UTSW |
3 |
66,065,648 (GRCm39) |
missense |
probably benign |
|
|
R4209:Veph1
|
UTSW |
3 |
66,151,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4361:Veph1
|
UTSW |
3 |
66,066,737 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4416:Veph1
|
UTSW |
3 |
65,968,606 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5478:Veph1
|
UTSW |
3 |
66,162,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6218:Veph1
|
UTSW |
3 |
66,162,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6399:Veph1
|
UTSW |
3 |
66,033,312 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6867:Veph1
|
UTSW |
3 |
66,162,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6877:Veph1
|
UTSW |
3 |
66,162,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7257:Veph1
|
UTSW |
3 |
66,065,703 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7723:Veph1
|
UTSW |
3 |
66,113,093 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7969:Veph1
|
UTSW |
3 |
66,122,896 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8174:Veph1
|
UTSW |
3 |
66,171,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8526:Veph1
|
UTSW |
3 |
66,066,737 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8816:Veph1
|
UTSW |
3 |
66,065,646 (GRCm39) |
missense |
probably benign |
|
|
R8946:Veph1
|
UTSW |
3 |
66,171,301 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9342:Veph1
|
UTSW |
3 |
66,151,959 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9411:Veph1
|
UTSW |
3 |
65,995,238 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9461:Veph1
|
UTSW |
3 |
66,029,066 (GRCm39) |
missense |
probably benign |
|
|
R9658:Veph1
|
UTSW |
3 |
66,171,434 (GRCm39) |
nonsense |
probably null |
|
|
X0025:Veph1
|
UTSW |
3 |
66,151,917 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Veph1
|
UTSW |
3 |
66,151,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATGCCTGGACAATTTTGGAGG -3'
(R):5'- TACCATGAGTTTAATAACCCCAGG -3'
Sequencing Primer
(F):5'- TGTTTCTAAAGGATTCAAGGAGACAG -3'
(R):5'- TCTTAGCACTCAGAAGGCTGG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation