Incidental Mutation 'R0318:Veph1'
ID |
25485 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Veph1
|
Ensembl Gene |
ENSMUSG00000027831 |
Gene Name |
ventricular zone expressed PH domain-containing 1 |
Synonyms |
2810471M23Rik, Veph |
MMRRC Submission |
038528-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0318 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
65960979-66204258 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 65964680 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Tyrosine
at position 783
(S783Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029419
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029419]
|
AlphaFold |
A1A535 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029419
AA Change: S783Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000029419 Gene: ENSMUSG00000027831 AA Change: S783Y
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: ENSMUST00000107837
|
SMART Domains |
Protein: ENSMUSP00000103468 Gene: ENSMUSG00000027831
Domain | Start | End | E-Value | Type |
Blast:PH
|
6 |
46 |
6e-6 |
BLAST |
PH
|
137 |
241 |
6.5e-17 |
SMART |
|
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.4%
- 20x: 86.5%
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9130401M01Rik |
A |
T |
15: 57,892,370 (GRCm39) |
L79Q |
probably damaging |
Het |
Add1 |
T |
C |
5: 34,782,684 (GRCm39) |
V130A |
probably damaging |
Het |
Ankrd23 |
G |
T |
1: 36,573,153 (GRCm39) |
T73K |
probably benign |
Het |
Blk |
A |
G |
14: 63,611,646 (GRCm39) |
Y430H |
probably damaging |
Het |
C3 |
C |
T |
17: 57,531,709 (GRCm39) |
V272M |
probably damaging |
Het |
Cerk |
C |
T |
15: 86,035,766 (GRCm39) |
A254T |
possibly damaging |
Het |
Ces2a |
G |
A |
8: 105,467,456 (GRCm39) |
A494T |
probably damaging |
Het |
Cfap46 |
T |
C |
7: 139,234,482 (GRCm39) |
Y258C |
probably damaging |
Het |
Chaf1a |
C |
T |
17: 56,369,227 (GRCm39) |
T486I |
possibly damaging |
Het |
Colec12 |
A |
G |
18: 9,848,446 (GRCm39) |
N208S |
possibly damaging |
Het |
Coro7 |
T |
A |
16: 4,493,671 (GRCm39) |
H63L |
probably benign |
Het |
Cps1 |
T |
A |
1: 67,216,173 (GRCm39) |
W833R |
probably damaging |
Het |
Csmd3 |
A |
T |
15: 47,522,549 (GRCm39) |
W2707R |
probably damaging |
Het |
Dbn1 |
C |
T |
13: 55,622,729 (GRCm39) |
E585K |
probably damaging |
Het |
Ddx50 |
A |
T |
10: 62,478,616 (GRCm39) |
I190K |
probably damaging |
Het |
Dnmt3l |
G |
A |
10: 77,890,889 (GRCm39) |
V264M |
probably damaging |
Het |
Dnpep |
A |
G |
1: 75,293,270 (GRCm39) |
V33A |
probably damaging |
Het |
Fam163a |
A |
G |
1: 155,955,715 (GRCm39) |
C26R |
probably damaging |
Het |
Fam83h |
A |
G |
15: 75,875,478 (GRCm39) |
S620P |
probably benign |
Het |
Fcna |
A |
G |
2: 25,515,071 (GRCm39) |
S263P |
probably benign |
Het |
Fnip2 |
A |
T |
3: 79,419,685 (GRCm39) |
S165R |
probably damaging |
Het |
Fpr-rs3 |
T |
C |
17: 20,844,410 (GRCm39) |
T244A |
probably benign |
Het |
Gpr152 |
T |
C |
19: 4,193,541 (GRCm39) |
S361P |
possibly damaging |
Het |
Grm5 |
A |
T |
7: 87,252,175 (GRCm39) |
I142L |
probably damaging |
Het |
Gucy2g |
A |
G |
19: 55,226,230 (GRCm39) |
S229P |
probably benign |
Het |
Htr7 |
C |
T |
19: 35,946,886 (GRCm39) |
G376D |
probably damaging |
Het |
Irgc |
T |
C |
7: 24,131,896 (GRCm39) |
D307G |
probably benign |
Het |
Irs1 |
A |
T |
1: 82,266,381 (GRCm39) |
S612T |
probably benign |
Het |
Maml2 |
C |
T |
9: 13,531,890 (GRCm39) |
T368I |
probably damaging |
Het |
Mapkapk2 |
A |
G |
1: 131,025,072 (GRCm39) |
V64A |
probably damaging |
Het |
Marf1 |
C |
T |
16: 13,960,398 (GRCm39) |
A549T |
probably damaging |
Het |
Nptx1 |
C |
T |
11: 119,433,367 (GRCm39) |
E411K |
probably damaging |
Het |
Or2z8 |
C |
T |
8: 72,812,244 (GRCm39) |
T240M |
probably damaging |
Het |
Or5ak25 |
C |
A |
2: 85,268,581 (GRCm39) |
R307M |
possibly damaging |
Het |
Pcgf5 |
A |
T |
19: 36,389,590 (GRCm39) |
K22N |
possibly damaging |
Het |
Psmd9 |
C |
A |
5: 123,372,712 (GRCm39) |
A65E |
possibly damaging |
Het |
Sh3bp1 |
A |
G |
15: 78,795,907 (GRCm39) |
T679A |
probably damaging |
Het |
Sipa1l2 |
G |
A |
8: 126,174,436 (GRCm39) |
P1281S |
possibly damaging |
Het |
Slc17a3 |
C |
T |
13: 24,039,841 (GRCm39) |
S293F |
probably damaging |
Het |
Slc25a24 |
A |
G |
3: 109,064,316 (GRCm39) |
M222V |
probably benign |
Het |
Smg9 |
T |
C |
7: 24,120,313 (GRCm39) |
F429S |
possibly damaging |
Het |
Snapc1 |
C |
T |
12: 74,021,806 (GRCm39) |
R81C |
probably damaging |
Het |
Sorl1 |
T |
A |
9: 41,993,250 (GRCm39) |
Y258F |
probably damaging |
Het |
Srp72 |
C |
T |
5: 77,132,047 (GRCm39) |
T242I |
probably benign |
Het |
Stc1 |
A |
T |
14: 69,275,867 (GRCm39) |
Q220L |
probably damaging |
Het |
Tas2r122 |
T |
C |
6: 132,688,795 (GRCm39) |
T33A |
possibly damaging |
Het |
Tbc1d10b |
A |
G |
7: 126,798,206 (GRCm39) |
L645P |
probably damaging |
Het |
Thoc2l |
T |
C |
5: 104,665,619 (GRCm39) |
F47S |
probably benign |
Het |
Timd4 |
T |
A |
11: 46,727,898 (GRCm39) |
H272Q |
probably benign |
Het |
Ttll5 |
T |
G |
12: 85,923,368 (GRCm39) |
|
probably null |
Het |
Vmn1r230 |
T |
C |
17: 21,067,078 (GRCm39) |
L89S |
possibly damaging |
Het |
Xcr1 |
A |
G |
9: 123,685,219 (GRCm39) |
V165A |
possibly damaging |
Het |
Zfp286 |
T |
C |
11: 62,675,788 (GRCm39) |
D58G |
probably damaging |
Het |
Zfyve26 |
C |
T |
12: 79,323,055 (GRCm39) |
R897H |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCGTGAGGTTTACTGAGAACCCTG -3'
(R):5'- ATACCATGTGAAAGGACCTGGCCC -3'
Sequencing Primer
(F):5'- GTTGACACTGGCAATGCTTATC -3'
(R):5'- AAAGGACCTGGCCCTCTTG -3'
|
Posted On |
2013-04-16 |