Incidental Mutation 'R3829:Veph1'
ID |
273875 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Veph1
|
Ensembl Gene |
ENSMUSG00000027831 |
Gene Name |
ventricular zone expressed PH domain-containing 1 |
Synonyms |
2810471M23Rik, Veph |
MMRRC Submission |
040776-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3829 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
65960979-66204258 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 66066748 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 413
(E413D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029419
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029419]
|
AlphaFold |
A1A535 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029419
AA Change: E413D
PolyPhen 2
Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000029419 Gene: ENSMUSG00000027831 AA Change: E413D
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 |
|
Meta Mutation Damage Score |
0.0889 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.7%
- 20x: 96.1%
|
Validation Efficiency |
100% (54/54) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931414P19Rik |
G |
T |
14: 54,821,966 (GRCm39) |
H466Q |
probably damaging |
Het |
4933411K16Rik |
A |
T |
19: 42,041,322 (GRCm39) |
H151L |
probably damaging |
Het |
A330008L17Rik |
A |
G |
8: 100,148,389 (GRCm39) |
|
noncoding transcript |
Het |
Abcc5 |
C |
A |
16: 20,184,615 (GRCm39) |
V1015L |
probably benign |
Het |
Bach2 |
T |
A |
4: 32,563,150 (GRCm39) |
L539H |
probably damaging |
Het |
Birc6 |
A |
G |
17: 74,962,173 (GRCm39) |
K3929R |
probably damaging |
Het |
C1qtnf2 |
A |
G |
11: 43,382,148 (GRCm39) |
D320G |
probably benign |
Het |
Cbr2 |
A |
T |
11: 120,621,278 (GRCm39) |
H140Q |
probably benign |
Het |
Cbs |
T |
C |
17: 31,836,355 (GRCm39) |
|
probably benign |
Het |
Cdc42bpg |
T |
C |
19: 6,367,675 (GRCm39) |
V1015A |
probably damaging |
Het |
Cep104 |
T |
G |
4: 154,069,400 (GRCm39) |
M207R |
probably damaging |
Het |
Chil6 |
A |
T |
3: 106,313,274 (GRCm39) |
M25K |
probably benign |
Het |
Cln5 |
A |
G |
14: 103,310,795 (GRCm39) |
D154G |
probably damaging |
Het |
Col4a1 |
C |
A |
8: 11,259,650 (GRCm39) |
G1341V |
probably damaging |
Het |
Commd9 |
C |
A |
2: 101,727,486 (GRCm39) |
N93K |
probably benign |
Het |
Cplane2 |
C |
T |
4: 140,945,900 (GRCm39) |
R148C |
probably damaging |
Het |
Cx3cl1 |
A |
T |
8: 95,503,934 (GRCm39) |
|
probably benign |
Het |
Cyct |
T |
C |
2: 76,184,512 (GRCm39) |
K80E |
probably damaging |
Het |
Dhx37 |
T |
C |
5: 125,508,677 (GRCm39) |
K86R |
probably benign |
Het |
Dnah17 |
G |
A |
11: 117,931,984 (GRCm39) |
|
probably benign |
Het |
Etl4 |
T |
C |
2: 20,790,232 (GRCm39) |
V628A |
probably benign |
Het |
Fam234a |
T |
C |
17: 26,437,163 (GRCm39) |
E172G |
probably benign |
Het |
Foxp2 |
C |
T |
6: 15,379,830 (GRCm39) |
|
probably benign |
Het |
Frem1 |
A |
T |
4: 82,917,167 (GRCm39) |
F592Y |
probably damaging |
Het |
Gm10259 |
T |
G |
3: 25,266,693 (GRCm39) |
|
noncoding transcript |
Het |
Gm17521 |
C |
A |
X: 121,938,922 (GRCm39) |
G149C |
unknown |
Het |
Gpat4 |
G |
A |
8: 23,670,171 (GRCm39) |
P286L |
probably damaging |
Het |
Grpel1 |
T |
A |
5: 36,626,827 (GRCm39) |
N36K |
probably benign |
Het |
Hap1 |
G |
T |
11: 100,246,847 (GRCm39) |
D19E |
probably damaging |
Het |
Lpcat1 |
T |
C |
13: 73,637,212 (GRCm39) |
I114T |
possibly damaging |
Het |
Mast4 |
G |
T |
13: 102,875,319 (GRCm39) |
H1350N |
probably damaging |
Het |
Mrpl50 |
T |
C |
4: 49,514,539 (GRCm39) |
E44G |
probably damaging |
Het |
Myg1 |
G |
C |
15: 102,246,171 (GRCm39) |
G349R |
probably damaging |
Het |
Myh1 |
A |
G |
11: 67,096,423 (GRCm39) |
I301V |
probably benign |
Het |
Ncapg2 |
A |
T |
12: 116,370,938 (GRCm39) |
|
probably benign |
Het |
Ncor2 |
T |
C |
5: 125,195,756 (GRCm39) |
|
probably benign |
Het |
Neo1 |
A |
G |
9: 58,820,452 (GRCm39) |
Y824H |
possibly damaging |
Het |
Or1o4 |
T |
A |
17: 37,591,140 (GRCm39) |
Y57F |
probably damaging |
Het |
Orc1 |
T |
A |
4: 108,462,828 (GRCm39) |
M635K |
probably damaging |
Het |
Phip |
A |
G |
9: 82,753,698 (GRCm39) |
I1682T |
probably benign |
Het |
Ppp2r1b |
A |
G |
9: 50,773,794 (GRCm39) |
N223S |
probably benign |
Het |
Ralb |
A |
T |
1: 119,399,447 (GRCm39) |
C204S |
probably benign |
Het |
Rgs12 |
G |
A |
5: 35,123,359 (GRCm39) |
V381M |
possibly damaging |
Het |
Rtkn2 |
A |
T |
10: 67,833,456 (GRCm39) |
|
probably null |
Het |
Srrm3 |
A |
G |
5: 135,886,068 (GRCm39) |
D336G |
probably damaging |
Het |
Stk11 |
T |
C |
10: 79,963,782 (GRCm39) |
|
probably null |
Het |
Svep1 |
A |
G |
4: 58,096,177 (GRCm39) |
L1481P |
probably damaging |
Het |
Tiam2 |
C |
G |
17: 3,557,976 (GRCm39) |
|
probably benign |
Het |
Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
Tmprss11b |
T |
C |
5: 86,809,449 (GRCm39) |
T348A |
probably damaging |
Het |
Ube3b |
C |
A |
5: 114,538,012 (GRCm39) |
Q368K |
probably damaging |
Het |
Vmn2r91 |
T |
G |
17: 18,325,759 (GRCm39) |
W126G |
probably damaging |
Het |
Yrdc |
T |
A |
4: 124,745,554 (GRCm39) |
M1K |
probably null |
Het |
Zfp445 |
T |
C |
9: 122,682,142 (GRCm39) |
M600V |
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 |
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 |
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'- AATAGAACTTTGGGTAGCTATGGG -3'
(R):5'- AAGTCCCTCTGCTCCAAAGG -3'
Sequencing Primer
(F):5'- TCCATGAAAGACCCCAAAGC -3'
(R):5'- CCTCTGCTCCAAAGGGTATGGATG -3'
|
Posted On |
2015-04-02 |