Incidental Mutation 'IGL03279:Veph1'
ID415541
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 #IGL03279
Quality Score
Status
Chromosome3
Chromosomal Location66053558-66296837 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 66255022 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 72 (T72A)
Ref Sequence ENSEMBL: ENSMUSP00000029419 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029419]
Predicted Effect probably damaging
Transcript: ENSMUST00000029419
AA Change: T72A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029419
Gene: ENSMUSG00000027831
AA Change: T72A

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
Meta Mutation Damage Score 0.3194 question?
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk T A 11: 120,013,678 D224V probably damaging Het
Abca4 C A 3: 122,141,732 N1526K probably benign Het
Aif1 T A 17: 35,171,547 K76* probably null Het
Arap2 A G 5: 62,621,910 S1446P probably damaging Het
Cyb5rl A T 4: 107,084,128 E250V possibly damaging Het
Dock3 T C 9: 106,911,248 probably benign Het
Dppa2 A G 16: 48,311,665 T42A possibly damaging Het
Drosha C T 15: 12,859,392 P562L probably benign Het
Egfl7 C A 2: 26,590,707 H126N probably benign Het
Gm5852 T C 3: 93,727,277 noncoding transcript Het
Gpr161 T C 1: 165,310,529 F228S probably damaging Het
Grid1 T A 14: 34,945,765 M83K probably damaging Het
Gsdma2 T C 11: 98,657,723 S434P unknown Het
Hao2 T A 3: 98,880,396 N239I possibly damaging Het
Hsd17b14 A T 7: 45,566,193 I206F possibly damaging Het
Kansl1l A T 1: 66,735,666 V667E probably damaging Het
Kdm3a T C 6: 71,611,675 D450G probably benign Het
Lmo7 C A 14: 101,900,508 A882E probably benign Het
P4ha3 A G 7: 100,300,686 Y254C probably damaging Het
Pcdh15 A G 10: 74,317,072 Y408C probably damaging Het
Pglyrp3 T C 3: 92,026,527 Y160H probably damaging Het
Pnma5 G A X: 73,035,999 T359I probably benign Het
Ptbp3 A T 4: 59,476,937 H440Q possibly damaging Het
Rbx1 A G 15: 81,468,198 N41S probably damaging Het
Rpl3 G A 15: 80,078,359 T340I probably benign Het
Scrn1 G A 6: 54,548,337 R16* probably null Het
Sema6a A T 18: 47,300,090 C91* probably null Het
Slco6d1 T A 1: 98,466,680 V363E probably damaging Het
Stk38 A G 17: 28,984,205 probably benign Het
Tanc2 G A 11: 105,913,092 probably null Het
Thada A G 17: 84,435,560 F812S probably benign Het
Tubb4b-ps1 A G 5: 7,179,630 probably benign Het
Vps52 T A 17: 33,957,874 D67E probably damaging Het
Other mutations in Veph1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00755:Veph1 APN 3 66255010 missense probably damaging 1.00
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
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
X0025:Veph1 UTSW 3 66244496 missense probably benign
Z1176:Veph1 UTSW 3 66244488 missense probably damaging 1.00
Posted On2016-08-02