Incidental Mutation 'IGL01746:Veph1'
ID |
153016 |
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 # |
IGL01746
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
65960979-66204258 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 66065508 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 520
(T520A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029419
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029419]
|
AlphaFold |
A1A535 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029419
AA Change: T520A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000029419 Gene: ENSMUSG00000027831 AA Change: T520A
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahnak |
A |
G |
19: 8,982,276 (GRCm39) |
M1187V |
possibly damaging |
Het |
Ctsm |
T |
C |
13: 61,687,630 (GRCm39) |
E76G |
probably benign |
Het |
Ctsm |
T |
C |
13: 61,686,717 (GRCm39) |
|
probably benign |
Het |
Egfl8 |
T |
C |
17: 34,833,890 (GRCm39) |
T63A |
probably damaging |
Het |
Fat4 |
T |
A |
3: 39,045,880 (GRCm39) |
C3966* |
probably null |
Het |
Fsd2 |
T |
C |
7: 81,202,755 (GRCm39) |
T275A |
probably benign |
Het |
Fyb2 |
A |
T |
4: 104,802,404 (GRCm39) |
H102L |
probably benign |
Het |
Galnt9 |
T |
C |
5: 110,736,188 (GRCm39) |
I168T |
probably damaging |
Het |
Hc |
A |
G |
2: 34,947,338 (GRCm39) |
Y59H |
probably damaging |
Het |
Khnyn |
T |
C |
14: 56,124,439 (GRCm39) |
V231A |
probably benign |
Het |
Larp4b |
T |
A |
13: 9,208,160 (GRCm39) |
V378E |
probably damaging |
Het |
Lbx1 |
A |
T |
19: 45,222,214 (GRCm39) |
S270T |
possibly damaging |
Het |
Mcm6 |
G |
A |
1: 128,281,261 (GRCm39) |
R101* |
probably null |
Het |
Mcph1 |
T |
C |
8: 18,721,143 (GRCm39) |
L657P |
probably damaging |
Het |
Ndst2 |
G |
T |
14: 20,779,482 (GRCm39) |
P253T |
probably benign |
Het |
Nek4 |
G |
A |
14: 30,699,541 (GRCm39) |
|
probably null |
Het |
Nsd1 |
T |
A |
13: 55,424,328 (GRCm39) |
|
probably null |
Het |
Oc90 |
A |
G |
15: 65,761,250 (GRCm39) |
|
probably benign |
Het |
Plcl2 |
T |
A |
17: 50,914,724 (GRCm39) |
S578T |
probably benign |
Het |
Ranbp3l |
T |
A |
15: 9,063,167 (GRCm39) |
C325* |
probably null |
Het |
Rps19bp1 |
T |
C |
15: 80,145,198 (GRCm39) |
Y140C |
probably damaging |
Het |
Sec62 |
T |
A |
3: 30,868,395 (GRCm39) |
I208K |
probably benign |
Het |
Slc25a48 |
T |
A |
13: 56,618,166 (GRCm39) |
F268I |
probably damaging |
Het |
Slc35e3 |
T |
C |
10: 117,580,807 (GRCm39) |
T166A |
possibly damaging |
Het |
Tmem253 |
G |
A |
14: 52,254,614 (GRCm39) |
W23* |
probably null |
Het |
Tmem97 |
T |
C |
11: 78,433,586 (GRCm39) |
Y103C |
probably damaging |
Het |
Traf6 |
A |
G |
2: 101,527,237 (GRCm39) |
E329G |
possibly damaging |
Het |
Ttll12 |
A |
G |
15: 83,462,877 (GRCm39) |
F530L |
probably damaging |
Het |
Ugt3a1 |
C |
T |
15: 9,361,754 (GRCm39) |
P177S |
probably damaging |
Het |
Vmn2r98 |
T |
A |
17: 19,286,713 (GRCm39) |
Y404N |
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 |
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 |
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 |
2014-02-04 |