Incidental Mutation 'IGL02161:Vax2'
ID282465
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vax2
Ensembl Gene ENSMUSG00000034777
Gene Nameventral anterior homeobox 2
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.760) question?
Stock #IGL02161
Quality Score
Status
Chromosome6
Chromosomal Location83711264-83738313 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 83737903 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 267 (S267P)
Ref Sequence ENSEMBL: ENSMUSP00000035976 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037807]
Predicted Effect probably damaging
Transcript: ENSMUST00000037807
AA Change: S267P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000035976
Gene: ENSMUSG00000034777
AA Change: S267P

DomainStartEndE-ValueType
low complexity region 7 32 N/A INTRINSIC
HOX 102 164 3.54e-27 SMART
low complexity region 169 180 N/A INTRINSIC
low complexity region 197 213 N/A INTRINSIC
low complexity region 233 247 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a homeobox protein and is almost exclusively expressed in the ventral portion of the retina during development. In mouse studies, this gene was found to be required for the correct formation of the optic fissure and other aspects of retinal development. [provided by RefSeq, Sep 2008]
PHENOTYPE: Homozygous null mutants for one allele show incomplete closure of optic fissure leading to coloboma, the frequency of which is strongly influenced by genetic background. Homozygous null mutants for 2 different alleles have abnormal projections of ventralretinal ganglion cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 A T 12: 118,874,755 V1024D probably benign Het
Alox5 T A 6: 116,423,193 M262L probably benign Het
Arid5b T C 10: 68,096,668 T1135A probably benign Het
Ascc3 T A 10: 50,850,527 Y2177* probably null Het
Birc6 A C 17: 74,548,837 H214P probably damaging Het
Catsperb T A 12: 101,409,415 probably benign Het
Ccr1l1 G A 9: 123,977,963 T149I possibly damaging Het
Cfap57 T G 4: 118,579,372 R942S possibly damaging Het
Crocc G A 4: 141,033,991 A941V probably benign Het
Csde1 A G 3: 103,050,338 Q471R probably damaging Het
Csmd1 C T 8: 16,358,412 V380I probably damaging Het
Dhx8 A T 11: 101,757,606 Q857L probably damaging Het
Eftud2 A G 11: 102,854,876 probably benign Het
Fat3 C A 9: 15,997,050 R2552I probably benign Het
Fat3 T A 9: 15,997,051 R2552* probably null Het
Fbln7 A T 2: 128,889,791 K166I probably benign Het
Glrx2 C T 1: 143,739,683 S8L possibly damaging Het
Grin2d T G 7: 45,854,422 I630L possibly damaging Het
Gsap T A 5: 21,253,379 W423R probably damaging Het
Kifc2 A G 15: 76,666,045 E468G probably damaging Het
Kpnb1 A G 11: 97,168,936 S566P probably benign Het
Lemd2 A G 17: 27,190,651 S509P probably damaging Het
Lepr T C 4: 101,745,678 F221S probably damaging Het
Nynrin T C 14: 55,863,984 F370S probably damaging Het
Olfr642 C A 7: 104,049,590 V255L possibly damaging Het
Pcdhb15 T A 18: 37,475,502 S596T possibly damaging Het
Prkcq G T 2: 11,277,076 S472I probably benign Het
Rabgef1 T C 5: 130,207,099 probably benign Het
Rnd3 C T 2: 51,134,076 V164M probably benign Het
Rtn4rl1 G A 11: 75,265,840 R366Q probably damaging Het
Sesn2 A T 4: 132,496,918 I393N probably damaging Het
St8sia2 T C 7: 73,976,682 N46S probably benign Het
Svopl A G 6: 38,036,815 probably benign Het
Tbr1 C T 2: 61,805,239 Q178* probably null Het
Vmn1r47 T A 6: 90,022,316 Y143* probably null Het
Vmn2r28 A G 7: 5,488,124 S375P possibly damaging Het
Vmn2r44 A T 7: 8,377,815 Y360N possibly damaging Het
Zc3h6 G A 2: 128,993,226 S94N possibly damaging Het
Other mutations in Vax2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01568:Vax2 APN 6 83711537 missense possibly damaging 0.70
IGL02584:Vax2 APN 6 83711513 missense probably benign
R0316:Vax2 UTSW 6 83711444 missense possibly damaging 0.79
R0456:Vax2 UTSW 6 83711406 missense probably benign 0.00
R1006:Vax2 UTSW 6 83737777 missense probably damaging 1.00
R2045:Vax2 UTSW 6 83711270 start gained probably benign
R2217:Vax2 UTSW 6 83737889 missense probably damaging 0.98
R2324:Vax2 UTSW 6 83711325 missense possibly damaging 0.53
R3979:Vax2 UTSW 6 83737547 missense probably damaging 0.98
R4755:Vax2 UTSW 6 83711397 missense probably damaging 0.99
R7203:Vax2 UTSW 6 83737900 missense probably damaging 0.99
R7242:Vax2 UTSW 6 83711316 missense possibly damaging 0.72
Posted On2015-04-16