Incidental Mutation 'R6877:Veph1'
ID |
536450 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Veph1
|
Ensembl Gene |
ENSMUSG00000027831 |
Gene Name |
ventricular zone expressed PH domain-containing 1 |
Synonyms |
2810471M23Rik, Veph |
MMRRC Submission |
044973-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6877 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
65960979-66204258 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 66162505 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 51
(N51S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029419
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029419]
|
AlphaFold |
A1A535 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029419
AA Change: N51S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000029419 Gene: ENSMUSG00000027831 AA Change: N51S
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: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
Validation Efficiency |
94% (47/50) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam34l |
T |
C |
8: 44,078,274 (GRCm39) |
H650R |
probably benign |
Het |
Adgrl2 |
T |
C |
3: 148,522,922 (GRCm39) |
Y1367C |
probably damaging |
Het |
Aqr |
A |
T |
2: 113,947,052 (GRCm39) |
C1043* |
probably null |
Het |
Arhgef17 |
A |
G |
7: 100,530,548 (GRCm39) |
S1413P |
probably damaging |
Het |
AU041133 |
A |
G |
10: 81,987,405 (GRCm39) |
T352A |
probably benign |
Het |
Bcl7a |
A |
G |
5: 123,489,958 (GRCm39) |
T41A |
probably damaging |
Het |
Btbd10 |
A |
T |
7: 112,921,967 (GRCm39) |
F298Y |
probably damaging |
Het |
Ccdc57 |
G |
A |
11: 120,764,528 (GRCm39) |
T749I |
probably benign |
Het |
Clcnkb |
T |
C |
4: 141,132,143 (GRCm39) |
N646S |
probably benign |
Het |
Dcst1 |
T |
C |
3: 89,257,667 (GRCm39) |
D701G |
probably benign |
Het |
Dnah14 |
C |
A |
1: 181,455,997 (GRCm39) |
T1001K |
possibly damaging |
Het |
Dnah8 |
G |
T |
17: 30,965,933 (GRCm39) |
G2422W |
probably damaging |
Het |
Dyrk2 |
A |
T |
10: 118,696,328 (GRCm39) |
I310N |
probably damaging |
Het |
Eif5b |
A |
T |
1: 38,089,320 (GRCm39) |
N1099Y |
probably damaging |
Het |
Elp2 |
T |
A |
18: 24,768,033 (GRCm39) |
N762K |
probably benign |
Het |
Esco2 |
A |
G |
14: 66,068,494 (GRCm39) |
V272A |
probably benign |
Het |
Fat3 |
A |
C |
9: 15,910,564 (GRCm39) |
S1813A |
probably benign |
Het |
Igf2r |
A |
G |
17: 12,916,228 (GRCm39) |
V1710A |
probably damaging |
Het |
Iqgap3 |
GGAGAG |
GGAG |
3: 88,020,078 (GRCm39) |
|
probably null |
Het |
Kcnk5 |
T |
C |
14: 20,194,784 (GRCm39) |
T185A |
possibly damaging |
Het |
Litafd |
G |
A |
16: 8,501,173 (GRCm39) |
V10I |
unknown |
Het |
Muc5ac |
C |
T |
7: 141,363,481 (GRCm39) |
|
probably benign |
Het |
Nol4 |
A |
T |
18: 22,852,186 (GRCm39) |
C460S |
probably benign |
Het |
Ntaq1 |
C |
A |
15: 58,017,074 (GRCm39) |
P163Q |
probably damaging |
Het |
Or10g3b |
T |
A |
14: 52,587,270 (GRCm39) |
I78F |
possibly damaging |
Het |
Or4f14b |
T |
C |
2: 111,775,184 (GRCm39) |
I206V |
probably benign |
Het |
Ovch2 |
G |
A |
7: 107,389,315 (GRCm39) |
A371V |
probably benign |
Het |
Pcdhb4 |
A |
G |
18: 37,442,625 (GRCm39) |
D645G |
probably damaging |
Het |
Pcnt |
A |
C |
10: 76,269,851 (GRCm39) |
S207A |
possibly damaging |
Het |
Pex1 |
A |
T |
5: 3,685,505 (GRCm39) |
Q1211L |
probably benign |
Het |
Pnn |
A |
G |
12: 59,115,553 (GRCm39) |
E99G |
probably damaging |
Het |
Prkrip1 |
A |
T |
5: 136,218,478 (GRCm39) |
|
probably null |
Het |
Rnf133 |
A |
G |
6: 23,649,486 (GRCm39) |
F191L |
probably benign |
Het |
Scn10a |
T |
C |
9: 119,438,848 (GRCm39) |
T1674A |
probably damaging |
Het |
Sdccag8 |
G |
A |
1: 176,839,501 (GRCm39) |
V682M |
probably damaging |
Het |
Spi1 |
T |
C |
2: 90,944,741 (GRCm39) |
L162P |
probably damaging |
Het |
Sptan1 |
C |
G |
2: 29,920,985 (GRCm39) |
N2432K |
probably damaging |
Het |
Stx2 |
A |
G |
5: 129,064,884 (GRCm39) |
V271A |
probably benign |
Het |
Sumf2 |
G |
A |
5: 129,878,867 (GRCm39) |
D68N |
probably damaging |
Het |
Tsc22d4 |
A |
G |
5: 137,760,855 (GRCm39) |
E92G |
possibly damaging |
Het |
Ube3c |
G |
T |
5: 29,792,316 (GRCm39) |
R37L |
probably benign |
Het |
Ubr5 |
A |
G |
15: 38,002,814 (GRCm39) |
S1446P |
probably damaging |
Het |
Vmn1r82 |
T |
C |
7: 12,039,290 (GRCm39) |
F70L |
possibly damaging |
Het |
Vmn2r92 |
A |
G |
17: 18,389,084 (GRCm39) |
N466S |
probably damaging |
Het |
Vwf |
T |
A |
6: 125,634,164 (GRCm39) |
V2153D |
possibly damaging |
Het |
Yeats2 |
A |
G |
16: 19,998,344 (GRCm39) |
T300A |
probably benign |
Het |
Zc3h12d |
G |
T |
10: 7,715,735 (GRCm39) |
R46L |
probably damaging |
Het |
Zfp516 |
T |
C |
18: 82,973,916 (GRCm39) |
I38T |
probably damaging |
Het |
Zic5 |
G |
A |
14: 122,697,100 (GRCm39) |
T505I |
unknown |
Het |
Zpld1 |
C |
T |
16: 55,072,034 (GRCm39) |
G75E |
probably 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 |
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 |
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'- CTGTTTCACACTGACATACCTG -3'
(R):5'- ACGTCACTGGACCTTGTGTG -3'
Sequencing Primer
(F):5'- TGCAACTCATGATATCAGAGGC -3'
(R):5'- CACTGGACCTTGTGTGTATTTTC -3'
|
Posted On |
2018-10-18 |