Incidental Mutation 'IGL02584:Vax2'
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ID299483
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? Possibly essential (E-score: 0.695) question?
Stock #IGL02584
Quality Score
Status
Chromosome6
Chromosomal Location83711264-83738313 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 83711513 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 73 (T73A)
Ref Sequence ENSEMBL: ENSMUSP00000035976 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037807]
Predicted Effect probably benign
Transcript: ENSMUST00000037807
AA Change: T73A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000035976
Gene: ENSMUSG00000034777
AA Change: T73A

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123402
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155159
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184408
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110057P08Rik A T 16: 89,174,856 Y22F unknown Het
Adgrb3 A G 1: 25,504,984 L312P probably damaging Het
Anpep T C 7: 79,825,393 probably benign Het
Arhgef6 T G X: 57,246,378 probably benign Het
Catsperg1 T C 7: 29,184,721 D989G probably damaging Het
Ccnj T A 19: 40,844,741 V121E probably benign Het
Cdyl T C 13: 35,683,786 L15P probably benign Het
Cnrip1 T A 11: 17,078,536 M156K probably damaging Het
Cryga T A 1: 65,103,016 S73C probably benign Het
Dennd4a A G 9: 64,851,298 T240A probably damaging Het
Eml6 A G 11: 29,749,387 S1789P probably damaging Het
Esr2 A T 12: 76,145,262 W331R probably damaging Het
Fbxo18 A T 2: 11,759,958 L455H probably benign Het
Gm21698 T A 5: 25,987,393 E65V probably damaging Het
Grm8 G T 6: 27,762,439 F262L probably benign Het
Haus3 A T 5: 34,166,258 L336* probably null Het
Hfm1 A C 5: 106,878,662 probably null Het
Hgfac T C 5: 35,043,961 probably benign Het
Ighv1-22 T C 12: 114,746,322 E101G probably benign Het
Impg2 A G 16: 56,265,011 E1027G probably damaging Het
Lypd5 A T 7: 24,353,568 T217S possibly damaging Het
Myrf A G 19: 10,212,223 probably benign Het
Mzf1 A G 7: 13,052,817 W109R probably damaging Het
Ndufb4 A T 16: 37,649,170 probably benign Het
Ntn1 A G 11: 68,277,530 V367A probably damaging Het
Olfr1029 C T 2: 85,975,875 L211F probably damaging Het
Oprk1 A G 1: 5,598,604 K91R probably damaging Het
Pdlim1 A G 19: 40,243,400 probably null Het
Ppp1r11 G A 17: 36,949,889 R61C probably damaging Het
Racgap1 T C 15: 99,623,634 D547G probably benign Het
Sema4b A G 7: 80,224,988 T709A probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Supt5 T C 7: 28,326,167 H218R probably benign Het
Tmem132c T A 5: 127,504,999 I426N probably damaging Het
Tpcn1 T C 5: 120,539,032 N696S probably damaging Het
Ttn T C 2: 76,736,162 N26383S possibly damaging Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Other mutations in Vax2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01568:Vax2 APN 6 83711537 missense possibly damaging 0.70
IGL02161:Vax2 APN 6 83737903 missense probably damaging 1.00
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