Incidental Mutation 'IGL00755:Veph1'
ID14775
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Veph1
Ensembl Gene ENSMUSG00000027831
Gene Nameventricular zone expressed PH domain-containing 1
SynonymsVeph, 2810471M23Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00755
Quality Score
Status
Chromosome3
Chromosomal Location66053558-66296837 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 66255010 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Lysine at position 76 (E76K)
Ref Sequence ENSEMBL: ENSMUSP00000029419 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029419]
Predicted Effect probably damaging
Transcript: ENSMUST00000029419
AA Change: E76K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029419
Gene: ENSMUSG00000027831
AA Change: E76K

DomainStartEndE-ValueType
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: ENSMUST00000182815
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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,542,102 Y4381C possibly damaging Het
Card6 G A 15: 5,098,941 T991I possibly damaging Het
Cd163 A G 6: 124,318,657 N684S possibly damaging Het
Cep290 A G 10: 100,531,104 T1106A probably damaging Het
Cplx4 T A 18: 65,957,095 probably benign Het
Crygd C T 1: 65,062,091 R115Q probably benign Het
Dnah6 A T 6: 73,212,434 probably null Het
Dock8 A G 19: 25,051,509 K26E probably benign Het
Fancl G A 11: 26,470,916 V349I probably benign Het
Gsg1l A G 7: 125,923,426 F210S possibly damaging Het
Mboat2 T A 12: 24,957,646 V419E probably benign Het
Mycbp2 A G 14: 103,194,621 V2327A possibly damaging Het
Ndnf C T 6: 65,703,258 P174S probably damaging Het
Nlrp9b A T 7: 20,023,522 D228V probably damaging Het
Prps2 A T X: 167,374,142 I56N possibly damaging Het
Reln A G 5: 22,060,380 V438A probably damaging Het
Rmdn1 T A 4: 19,580,401 N42K probably benign Het
Sass6 G A 3: 116,618,328 E312K probably damaging Het
Scrn1 T A 6: 54,520,709 D299V possibly damaging Het
Slk T A 19: 47,609,010 C86S probably damaging Het
Zfp282 C T 6: 47,880,390 P186S probably damaging Het
Other mutations in Veph1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01539:Veph1 APN 3 66158075 missense probably benign 0.00
IGL01746:Veph1 APN 3 66158087 missense probably benign
IGL02055:Veph1 APN 3 66205627 missense possibly damaging 0.94
IGL02504:Veph1 APN 3 66172130 missense probably damaging 1.00
IGL02610:Veph1 APN 3 66172167 missense probably damaging 1.00
IGL02647:Veph1 APN 3 66159448 splice site probably benign
IGL03279:Veph1 APN 3 66255022 missense probably damaging 1.00
R0317:Veph1 UTSW 3 66171975 missense probably benign
R0318:Veph1 UTSW 3 66057259 missense probably damaging 1.00
R0418:Veph1 UTSW 3 66255028 nonsense probably null
R1913:Veph1 UTSW 3 66244555 missense probably damaging 1.00
R2081:Veph1 UTSW 3 66061102 missense probably damaging 1.00
R2116:Veph1 UTSW 3 66057189 missense probably benign 0.06
R3622:Veph1 UTSW 3 66215437 missense probably benign 0.01
R3623:Veph1 UTSW 3 66215437 missense probably benign 0.01
R3624:Veph1 UTSW 3 66215437 missense probably benign 0.01
R3829:Veph1 UTSW 3 66159327 missense possibly damaging 0.92
R3862:Veph1 UTSW 3 66254892 missense probably damaging 1.00
R3974:Veph1 UTSW 3 66158227 missense probably benign
R4209:Veph1 UTSW 3 66244546 missense probably damaging 1.00
R4361:Veph1 UTSW 3 66159316 missense probably benign 0.00
R4416:Veph1 UTSW 3 66061185 missense probably damaging 0.99
R5478:Veph1 UTSW 3 66255022 missense probably damaging 1.00
R6218:Veph1 UTSW 3 66255060 missense probably damaging 1.00
R6399:Veph1 UTSW 3 66125891 missense probably benign 0.03
R6655:Veph1 UTSW 3 66205613 missense possibly damaging 0.50
R6867:Veph1 UTSW 3 66255037 missense probably damaging 1.00
R6877:Veph1 UTSW 3 66255084 missense probably damaging 1.00
R7257:Veph1 UTSW 3 66158282 missense probably benign 0.00
R7723:Veph1 UTSW 3 66205672 missense possibly damaging 0.95
R7969:Veph1 UTSW 3 66215475 missense possibly damaging 0.81
R8174:Veph1 UTSW 3 66263895 missense probably damaging 1.00
R8526:Veph1 UTSW 3 66159316 missense probably benign 0.00
R8816:Veph1 UTSW 3 66158225 missense probably benign
X0025:Veph1 UTSW 3 66244496 missense probably benign
Z1176:Veph1 UTSW 3 66244488 missense probably damaging 1.00
Posted On2012-12-06