Incidental Mutation 'R4297:Vax1'
ID 323403
Institutional Source Beutler Lab
Gene Symbol Vax1
Ensembl Gene ENSMUSG00000006270
Gene Name ventral anterior homeobox 1
Synonyms
MMRRC Submission 041085-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.853) question?
Stock # R4297 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 59154619-59158488 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 59154683 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Stop codon at position 318 (S318*)
Ref Sequence ENSEMBL: ENSMUSP00000134642 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000172821]
AlphaFold Q2NKI2
Predicted Effect probably null
Transcript: ENSMUST00000172821
AA Change: S318*
SMART Domains Protein: ENSMUSP00000134642
Gene: ENSMUSG00000006270
AA Change: S318*

DomainStartEndE-ValueType
HOX 100 162 1.34e-27 SMART
low complexity region 187 206 N/A INTRINSIC
low complexity region 208 245 N/A INTRINSIC
low complexity region 249 272 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173710
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 85% (33/39)
MGI Phenotype FUNCTION: This gene encodes a member of the EMX homeobox protein family. The encoded protein functions as a transcription factor which is important in the development of anterior ventral forebrain and visual system. Disruption of this gene causes impairment in the developing forebrain, where the encoded protein is necessary for axon guidance and major tract formation. [provided by RefSeq, Dec 2015]
PHENOTYPE: Homozygous null mutants exhibit cleft palate and most die at birth. A few survive to 2 weeks of age. Mutants display defects in axon guidance, coloboma, dysgenesis of the optic nerve, defects of basal telencephalon, and holoprosencephaly. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 T C 8: 87,258,154 (GRCm39) probably null Het
Alkbh3 C T 2: 93,838,469 (GRCm39) R34H probably benign Het
Cacna1e T G 1: 154,274,477 (GRCm39) S2143R probably benign Het
Camkk2 A G 5: 122,883,769 (GRCm39) probably null Het
Cep295 A G 9: 15,233,950 (GRCm39) V2282A probably benign Het
Cfap46 A C 7: 139,232,589 (GRCm39) D827E probably benign Het
Col5a1 T C 2: 27,907,216 (GRCm39) probably null Het
Col6a3 T A 1: 90,739,100 (GRCm39) E376V probably damaging Het
Creld2 T C 15: 88,707,956 (GRCm39) C232R probably damaging Het
Ctdp1 A T 18: 80,493,172 (GRCm39) V441E probably benign Het
Cyp2a4 A G 7: 26,006,793 (GRCm39) T51A probably damaging Het
Dgke A T 11: 88,941,556 (GRCm39) V273D probably damaging Het
Epcam T C 17: 87,947,962 (GRCm39) probably null Het
Fpr-rs3 A T 17: 20,845,008 (GRCm39) N44K probably damaging Het
Glipr1l1 A T 10: 111,898,252 (GRCm39) D119V probably benign Het
Gm6818 A T 7: 38,101,877 (GRCm39) noncoding transcript Het
Gprc5b G A 7: 118,583,437 (GRCm39) A144V possibly damaging Het
Gsto2 A C 19: 47,864,935 (GRCm39) E156A possibly damaging Het
Hbb-bs T C 7: 103,475,951 (GRCm39) D122G probably benign Het
Mc5r T C 18: 68,472,378 (GRCm39) F246L probably benign Het
Ncapd3 A G 9: 26,963,623 (GRCm39) N492S probably benign Het
Reln A C 5: 22,125,485 (GRCm39) C2733G probably damaging Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Slc6a21 G A 7: 44,937,186 (GRCm39) V239M possibly damaging Het
St3gal2 T C 8: 111,688,991 (GRCm39) M177T probably benign Het
Ttn C A 2: 76,556,607 (GRCm39) G30133C probably damaging Het
Ugt1a8 T C 1: 88,015,826 (GRCm39) S80P probably benign Het
Vcam1 A T 3: 115,910,892 (GRCm39) V502E probably benign Het
Vmn2r12 C A 5: 109,239,830 (GRCm39) M244I probably benign Het
Vps18 T A 2: 119,127,812 (GRCm39) C878* probably null Het
Wdr11 A G 7: 129,226,910 (GRCm39) R791G probably benign Het
Other mutations in Vax1
AlleleSourceChrCoordTypePredicted EffectPPH Score
vaxxed UTSW 19 59,158,247 (GRCm39) missense unknown
R5753:Vax1 UTSW 19 59,154,814 (GRCm39) missense probably benign 0.13
R5897:Vax1 UTSW 19 59,158,233 (GRCm39) missense unknown
R6063:Vax1 UTSW 19 59,157,036 (GRCm39) missense unknown
R6378:Vax1 UTSW 19 59,154,656 (GRCm39) missense probably benign 0.08
R6874:Vax1 UTSW 19 59,156,955 (GRCm39) missense unknown
R7558:Vax1 UTSW 19 59,158,416 (GRCm39) missense unknown
R8788:Vax1 UTSW 19 59,158,247 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TTGAAACCAGTAGCCTGCAC -3'
(R):5'- TTCCAGAATCGGCGGACTAAG -3'

Sequencing Primer
(F):5'- GCGTCAGAAGCCTAGTGG -3'
(R):5'- AAGGACTCGGAGCTGCG -3'
Posted On 2015-06-20