Incidental Mutation 'IGL00755:Veph1'
ID 14775
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) question?
Stock # IGL00755
Quality Score
Status
Chromosome 3
Chromosomal Location 65960979-66204258 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 66162431 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold A1A535
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: 9,492,102 (GRCm39) Y4381C possibly damaging Het
Card6 G A 15: 5,128,423 (GRCm39) T991I possibly damaging Het
Cd163 A G 6: 124,295,616 (GRCm39) N684S possibly damaging Het
Cep290 A G 10: 100,366,966 (GRCm39) T1106A probably damaging Het
Cplx4 T A 18: 66,090,166 (GRCm39) probably benign Het
Crygd C T 1: 65,101,250 (GRCm39) R115Q probably benign Het
Dnah6 A T 6: 73,189,417 (GRCm39) probably null Het
Dock8 A G 19: 25,028,873 (GRCm39) K26E probably benign Het
Fancl G A 11: 26,420,916 (GRCm39) V349I probably benign Het
Gsg1l A G 7: 125,522,598 (GRCm39) F210S possibly damaging Het
Mboat2 T A 12: 25,007,645 (GRCm39) V419E probably benign Het
Mycbp2 A G 14: 103,432,057 (GRCm39) V2327A possibly damaging Het
Ndnf C T 6: 65,680,242 (GRCm39) P174S probably damaging Het
Nlrp9b A T 7: 19,757,447 (GRCm39) D228V probably damaging Het
Prps2 A T X: 166,157,138 (GRCm39) I56N possibly damaging Het
Reln A G 5: 22,265,378 (GRCm39) V438A probably damaging Het
Rmdn1 T A 4: 19,580,401 (GRCm39) N42K probably benign Het
Sass6 G A 3: 116,411,977 (GRCm39) E312K probably damaging Het
Scrn1 T A 6: 54,497,694 (GRCm39) D299V possibly damaging Het
Slk T A 19: 47,597,449 (GRCm39) C86S probably damaging Het
Zfp282 C T 6: 47,857,324 (GRCm39) P186S probably damaging Het
Other mutations in Veph1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2012-12-06