Incidental Mutation 'IGL02610:Veph1'
| ID |
300449 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Veph1
|
| Ensembl Gene |
ENSMUSG00000027831 |
| Gene Name |
ventricular zone expressed PH domain-containing 1 |
| Synonyms |
2810471M23Rik, Veph |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02610
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
65960979-66204258 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 66079588 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 309
(L309P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029419
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029419]
|
| AlphaFold |
A1A535 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029419
AA Change: L309P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029419
Gene: ENSMUSG00000027831
AA Change: L309P
| 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 |
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Armc8 |
T |
C |
9: 99,409,122 (GRCm39) |
|
probably benign |
Het |
| Ccdc93 |
T |
G |
1: 121,420,700 (GRCm39) |
V527G |
probably benign |
Het |
| Ctcfl |
C |
A |
2: 172,947,819 (GRCm39) |
|
probably benign |
Het |
| Dmd |
T |
C |
X: 82,707,762 (GRCm39) |
S359P |
probably damaging |
Het |
| Drc3 |
T |
C |
11: 60,261,419 (GRCm39) |
F190S |
probably benign |
Het |
| Dync1h1 |
A |
T |
12: 110,625,666 (GRCm39) |
K3943* |
probably null |
Het |
| Dzip3 |
A |
G |
16: 48,772,016 (GRCm39) |
V551A |
probably damaging |
Het |
| Ep300 |
T |
A |
15: 81,485,723 (GRCm39) |
L237M |
unknown |
Het |
| Gab1 |
A |
G |
8: 81,526,728 (GRCm39) |
|
probably null |
Het |
| Gm6430 |
G |
A |
1: 96,952,560 (GRCm39) |
|
noncoding transcript |
Het |
| Ighv16-1 |
A |
T |
12: 114,032,733 (GRCm39) |
V23E |
probably damaging |
Het |
| Ikbkb |
T |
A |
8: 23,165,088 (GRCm39) |
|
probably null |
Het |
| Ncr1 |
A |
T |
7: 4,341,132 (GRCm39) |
N41I |
probably benign |
Het |
| Nfkbib |
T |
C |
7: 28,459,274 (GRCm39) |
D319G |
probably damaging |
Het |
| Nkain3 |
T |
C |
4: 20,469,459 (GRCm39) |
E85G |
probably damaging |
Het |
| Or51h1 |
G |
A |
7: 102,308,774 (GRCm39) |
V249M |
probably benign |
Het |
| Pip5k1c |
C |
A |
10: 81,153,155 (GRCm39) |
|
probably null |
Het |
| Ppp2r2b |
A |
G |
18: 42,781,840 (GRCm39) |
|
probably benign |
Het |
| Rgs11 |
G |
A |
17: 26,426,605 (GRCm39) |
V279I |
probably benign |
Het |
| Rhod |
A |
G |
19: 4,476,203 (GRCm39) |
F183L |
probably damaging |
Het |
| Slc35f3 |
A |
T |
8: 127,047,956 (GRCm39) |
T99S |
probably damaging |
Het |
| Spata31e4 |
T |
C |
13: 50,855,748 (GRCm39) |
V462A |
possibly damaging |
Het |
| Spock3 |
A |
G |
8: 63,798,771 (GRCm39) |
Y264C |
probably damaging |
Het |
| Trnt1 |
T |
C |
6: 106,755,779 (GRCm39) |
F278S |
possibly damaging |
Het |
| Ush2a |
T |
A |
1: 188,176,663 (GRCm39) |
Y1276N |
probably damaging |
Het |
| Vmn1r7 |
G |
T |
6: 57,002,037 (GRCm39) |
F74L |
probably benign |
Het |
| Vsnl1 |
C |
T |
12: 11,382,072 (GRCm39) |
W103* |
probably null |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation