Incidental Mutation 'R3862:Veph1'
| ID |
276386 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Veph1
|
| Ensembl Gene |
ENSMUSG00000027831 |
| Gene Name |
ventricular zone expressed PH domain-containing 1 |
| Synonyms |
2810471M23Rik, Veph |
| MMRRC Submission |
040903-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3862 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
65960979-66204258 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 66162313 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 115
(C115Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029419
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029419]
|
| AlphaFold |
A1A535 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029419
AA Change: C115Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029419
Gene: ENSMUSG00000027831
AA Change: C115Y
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182815
|
| Meta Mutation Damage Score |
0.2836 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
97% (36/37) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apc2 |
G |
A |
10: 80,143,393 (GRCm39) |
G498R |
possibly damaging |
Het |
| Bltp1 |
T |
A |
3: 36,939,547 (GRCm39) |
F134I |
possibly damaging |
Het |
| Bub1 |
A |
G |
2: 127,656,676 (GRCm39) |
|
probably benign |
Het |
| Cttnbp2 |
C |
T |
6: 18,434,905 (GRCm39) |
V318M |
probably benign |
Het |
| D430041D05Rik |
T |
C |
2: 104,044,522 (GRCm39) |
I825M |
possibly damaging |
Het |
| Enpp6 |
A |
G |
8: 47,519,027 (GRCm39) |
Q265R |
probably benign |
Het |
| Eri1 |
A |
G |
8: 35,958,448 (GRCm39) |
V61A |
possibly damaging |
Het |
| Evi2 |
T |
A |
11: 79,406,472 (GRCm39) |
I368F |
probably benign |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Fkbp9 |
A |
G |
6: 56,845,890 (GRCm39) |
T409A |
probably benign |
Het |
| Gtpbp4 |
A |
G |
13: 9,040,834 (GRCm39) |
V97A |
probably damaging |
Het |
| Hapln1 |
C |
T |
13: 89,753,418 (GRCm39) |
Q195* |
probably null |
Het |
| Helt |
G |
T |
8: 46,745,315 (GRCm39) |
N189K |
probably benign |
Het |
| Hint2 |
A |
G |
4: 43,654,771 (GRCm39) |
V91A |
probably damaging |
Het |
| Ighv1-7 |
A |
G |
12: 114,502,266 (GRCm39) |
I67T |
probably damaging |
Het |
| Kif26a |
A |
G |
12: 112,146,323 (GRCm39) |
E1803G |
probably benign |
Het |
| Lrrd1 |
G |
A |
5: 3,901,248 (GRCm39) |
V518I |
probably benign |
Het |
| Marchf11 |
C |
T |
15: 26,387,952 (GRCm39) |
A269V |
probably damaging |
Het |
| Mep1b |
A |
G |
18: 21,217,226 (GRCm39) |
N115S |
possibly damaging |
Het |
| Naif1 |
A |
G |
2: 32,342,637 (GRCm39) |
R63G |
probably damaging |
Het |
| Nsmaf |
A |
G |
4: 6,435,064 (GRCm39) |
I126T |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Or52h7 |
G |
A |
7: 104,214,145 (GRCm39) |
R239H |
probably benign |
Het |
| Or8g53 |
T |
A |
9: 39,683,920 (GRCm39) |
M59L |
probably benign |
Het |
| Pcdhb3 |
A |
G |
18: 37,436,329 (GRCm39) |
E765G |
probably damaging |
Het |
| Ppp4r4 |
C |
T |
12: 103,562,680 (GRCm39) |
R550* |
probably null |
Het |
| Scgb2b3 |
C |
T |
7: 31,061,430 (GRCm39) |
|
probably null |
Het |
| Sgcz |
T |
C |
8: 37,990,565 (GRCm39) |
I263V |
probably benign |
Het |
| Slc15a1 |
C |
T |
14: 121,722,269 (GRCm39) |
V211I |
probably benign |
Het |
| Slc25a21 |
G |
T |
12: 56,764,920 (GRCm39) |
|
probably benign |
Het |
| Snrnp200 |
C |
A |
2: 127,075,019 (GRCm39) |
|
probably benign |
Het |
| Spata31e5 |
T |
C |
1: 28,816,722 (GRCm39) |
T437A |
probably damaging |
Het |
| Sptbn1 |
G |
T |
11: 30,092,329 (GRCm39) |
Q479K |
possibly damaging |
Het |
| Stag1 |
T |
A |
9: 100,826,838 (GRCm39) |
V935D |
probably benign |
Het |
| Zc3h12a |
T |
C |
4: 125,020,732 (GRCm39) |
D37G |
probably benign |
Het |
| Zfand4 |
A |
T |
6: 116,270,776 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
R6655:Veph1
|
UTSW |
3 |
66,113,034 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
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'- TACAGTATGGCTCTCCTACAGC -3'
(R):5'- CAGGCGGTGGTTGAAATCTG -3'
Sequencing Primer
(F):5'- TCTCCTACAGCTGGGACTCAGTAG -3'
(R):5'- CGGTGGTTGAAATCTGTATCACAAG -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation