Incidental Mutation 'R8174:Veph1'
| ID |
634224 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Veph1
|
| Ensembl Gene |
ENSMUSG00000027831 |
| Gene Name |
ventricular zone expressed PH domain-containing 1 |
| Synonyms |
2810471M23Rik, Veph |
| MMRRC Submission |
067599-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8174 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
65960979-66204258 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 66171316 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 42
(I42T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029419
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029419]
|
| AlphaFold |
A1A535 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029419
AA Change: I42T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000029419
Gene: ENSMUSG00000027831
AA Change: I42T
| 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: 98.4%
|
| Validation Efficiency |
100% (40/40) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap13 |
A |
G |
7: 75,378,617 (GRCm39) |
N2090S |
possibly damaging |
Het |
| Asxl3 |
T |
C |
18: 22,650,800 (GRCm39) |
S930P |
probably benign |
Het |
| Cachd1 |
T |
A |
4: 100,823,466 (GRCm39) |
I506N |
probably damaging |
Het |
| Calm1 |
G |
T |
12: 100,171,967 (GRCm39) |
V140L |
probably benign |
Het |
| Cdsn |
A |
T |
17: 35,866,529 (GRCm39) |
K353* |
probably null |
Het |
| Cldn11 |
T |
C |
3: 31,208,210 (GRCm39) |
V125A |
probably benign |
Het |
| Ddx60 |
G |
A |
8: 62,470,284 (GRCm39) |
|
probably null |
Het |
| Dlg2 |
A |
G |
7: 91,589,248 (GRCm39) |
I216V |
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,311,279 (GRCm39) |
|
probably null |
Het |
| Dnajc28 |
G |
A |
16: 91,413,795 (GRCm39) |
R150* |
probably null |
Het |
| Erap1 |
A |
T |
13: 74,794,683 (GRCm39) |
Y114F |
probably benign |
Het |
| Gm14443 |
G |
A |
2: 175,011,468 (GRCm39) |
P326L |
probably damaging |
Het |
| Gm2042 |
T |
A |
12: 87,926,928 (GRCm39) |
L415Q |
probably damaging |
Het |
| Gm8797 |
T |
C |
3: 5,816,094 (GRCm39) |
I44T |
probably benign |
Het |
| Matn2 |
C |
A |
15: 34,422,555 (GRCm39) |
F547L |
probably benign |
Het |
| Mpc2 |
T |
A |
1: 165,308,458 (GRCm39) |
|
probably null |
Het |
| Or5b12b |
A |
G |
19: 12,861,268 (GRCm39) |
T8A |
probably benign |
Het |
| Or7d10 |
A |
C |
9: 19,832,020 (GRCm39) |
T172P |
probably damaging |
Het |
| Pcnx4 |
T |
A |
12: 72,603,687 (GRCm39) |
L536Q |
probably damaging |
Het |
| Phlpp2 |
G |
A |
8: 110,595,321 (GRCm39) |
R24H |
unknown |
Het |
| Pkmyt1 |
A |
T |
17: 23,952,813 (GRCm39) |
D123V |
probably damaging |
Het |
| Polg |
A |
T |
7: 79,106,466 (GRCm39) |
M668K |
probably benign |
Het |
| Ppp1r12a |
G |
T |
10: 108,107,598 (GRCm39) |
A974S |
probably benign |
Het |
| Ppp2r3d |
T |
C |
9: 101,090,501 (GRCm39) |
|
probably benign |
Het |
| Rabl3 |
T |
C |
16: 37,377,225 (GRCm39) |
Y61H |
probably damaging |
Het |
| Rap2a |
T |
A |
14: 120,716,269 (GRCm39) |
I44N |
probably damaging |
Het |
| Rev3l |
T |
C |
10: 39,735,111 (GRCm39) |
V2779A |
probably damaging |
Het |
| Rnf43 |
G |
T |
11: 87,622,057 (GRCm39) |
R259L |
probably benign |
Het |
| Rspry1 |
T |
A |
8: 95,376,450 (GRCm39) |
L448Q |
probably damaging |
Het |
| Slc43a2 |
T |
G |
11: 75,434,193 (GRCm39) |
|
probably null |
Het |
| Slc6a5 |
A |
G |
7: 49,598,057 (GRCm39) |
I640M |
probably benign |
Het |
| Sp140l1 |
T |
G |
1: 85,077,261 (GRCm39) |
S102R |
probably damaging |
Het |
| Srrm2 |
C |
T |
17: 24,034,297 (GRCm39) |
P314S |
unknown |
Het |
| Strn4 |
C |
T |
7: 16,562,733 (GRCm39) |
R291C |
probably damaging |
Het |
| Syt4 |
T |
A |
18: 31,577,230 (GRCm39) |
R41S |
probably benign |
Het |
| Tfb1m |
T |
C |
17: 3,569,855 (GRCm39) |
D337G |
probably benign |
Het |
| Togaram1 |
G |
T |
12: 65,029,465 (GRCm39) |
D963Y |
possibly damaging |
Het |
| Tpsg1 |
T |
C |
17: 25,591,564 (GRCm39) |
C55R |
probably damaging |
Het |
| Tram1l1 |
A |
G |
3: 124,115,911 (GRCm39) |
K357R |
probably benign |
Het |
| Vps13b |
C |
G |
15: 35,709,456 (GRCm39) |
S1801* |
probably null |
Het |
| Zcwpw1 |
G |
A |
5: 137,817,839 (GRCm39) |
|
probably null |
Het |
| Zfp266 |
G |
A |
9: 20,418,110 (GRCm39) |
|
probably benign |
Het |
| Zmym5 |
T |
A |
14: 57,031,918 (GRCm39) |
R397* |
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 |
|
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 |
|
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'- TCCAGCATTCAGGTCTCCATG -3'
(R):5'- ACCCTGACAACTGACCATGG -3'
Sequencing Primer
(F):5'- GCTGGCCTAAGATAACAGTTTGC -3'
(R):5'- TGGCCCTGGATTCACAGAAATC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation