Incidental Mutation 'R5897:Vax1'
ID 457620
Institutional Source Beutler Lab
Gene Symbol Vax1
Ensembl Gene ENSMUSG00000006270
Gene Name ventral anterior homeobox 1
Synonyms
MMRRC Submission 044096-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.853) question?
Stock # R5897 (G1)
Quality Score 158
Status Not validated
Chromosome 19
Chromosomal Location 59154619-59158488 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 59158233 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 77 (I77F)
Ref Sequence ENSEMBL: ENSMUSP00000134642 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000172821]
AlphaFold Q2NKI2
Predicted Effect unknown
Transcript: ENSMUST00000172821
AA Change: I77F
SMART Domains Protein: ENSMUSP00000134642
Gene: ENSMUSG00000006270
AA Change: I77F

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
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.4%
  • 10x: 97.0%
  • 20x: 90.7%
Validation Efficiency
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp A G 16: 56,425,032 (GRCm39) T489A possibly damaging Het
Adam3 T C 8: 25,187,244 (GRCm39) T416A probably benign Het
Agbl3 A G 6: 34,780,508 (GRCm39) I494V probably benign Het
Akap9 T C 5: 4,127,904 (GRCm39) S3747P probably benign Het
Arhgef18 G T 8: 3,489,682 (GRCm39) R338L probably damaging Het
Atg16l1 G T 1: 87,713,719 (GRCm39) probably null Het
BC024139 A G 15: 76,010,339 (GRCm39) S56P possibly damaging Het
Ccdc121 T C 5: 31,643,308 (GRCm39) probably benign Het
Ccdc175 T A 12: 72,206,578 (GRCm39) I223L probably benign Het
Cdcp3 A T 7: 130,798,280 (GRCm39) probably null Het
Cep76 T A 18: 67,771,398 (GRCm39) Q78L probably benign Het
Cyp20a1 A C 1: 60,392,220 (GRCm39) N92T probably damaging Het
Cyp2c68 T C 19: 39,700,975 (GRCm39) D281G probably benign Het
Cyp2j12 T C 4: 95,990,279 (GRCm39) N429S probably damaging Het
Dchs2 G A 3: 83,192,717 (GRCm39) V1721I possibly damaging Het
Elovl4 G A 9: 83,672,157 (GRCm39) T54M possibly damaging Het
Fam13b A G 18: 34,587,134 (GRCm39) V542A possibly damaging Het
Gje1 A T 10: 14,592,467 (GRCm39) I105N probably damaging Het
Grm4 G T 17: 27,654,137 (GRCm39) F349L probably benign Het
Hsd17b3 A G 13: 64,236,799 (GRCm39) probably null Het
Khdrbs1 A T 4: 129,614,448 (GRCm39) D368E probably benign Het
Klra10 T A 6: 130,258,792 (GRCm39) R32* probably null Het
Lrrc7 T A 3: 157,869,990 (GRCm39) I644F probably damaging Het
Or2i1 A T 17: 37,508,151 (GRCm39) L161Q probably damaging Het
Or2t1 G T 14: 14,328,120 (GRCm38) G3V probably benign Het
Otogl G A 10: 107,612,978 (GRCm39) silent Het
Pbx3 A T 2: 34,261,920 (GRCm39) S5T probably benign Het
Pcdhb13 T A 18: 37,576,264 (GRCm39) V214E probably benign Het
Pkd1l1 T C 11: 8,829,176 (GRCm39) D1022G probably benign Het
Pla2g4a T A 1: 149,740,899 (GRCm39) K380I probably damaging Het
Prl3b1 A G 13: 27,429,858 (GRCm39) T99A probably benign Het
Prr12 C T 7: 44,692,808 (GRCm39) V1575I probably damaging Het
Ptpn5 C T 7: 46,729,262 (GRCm39) V451I probably benign Het
Rab1a C T 11: 20,168,867 (GRCm39) R51* probably null Het
Skint9 A G 4: 112,271,113 (GRCm39) I99T possibly damaging Het
Tbc1d8 A G 1: 39,431,190 (GRCm39) V394A possibly damaging Het
Tcf20 A T 15: 82,735,984 (GRCm39) C1822* probably null Het
Tdrd6 T A 17: 43,935,768 (GRCm39) D1760V probably damaging Het
Tinag C A 9: 76,952,726 (GRCm39) C86F probably damaging Het
Tmtc2 A T 10: 105,249,459 (GRCm39) N91K probably damaging Het
Tmub1 G A 5: 24,651,925 (GRCm39) T13M probably benign Het
Txn2 G A 15: 77,808,726 (GRCm39) A135V probably benign Het
Ush2a G A 1: 188,553,935 (GRCm39) G3475R probably damaging Het
Usp38 T C 8: 81,732,082 (GRCm39) D276G probably benign Het
Vmn2r108 C T 17: 20,691,580 (GRCm39) M314I probably benign Het
Vmn2r4 C A 3: 64,322,687 (GRCm39) G11* probably null Het
Zcchc14 T C 8: 122,331,899 (GRCm39) probably benign Het
Other mutations in Vax1
AlleleSourceChrCoordTypePredicted EffectPPH Score
vaxxed UTSW 19 59,158,247 (GRCm39) missense unknown
R4297:Vax1 UTSW 19 59,154,683 (GRCm39) nonsense probably null
R5753:Vax1 UTSW 19 59,154,814 (GRCm39) missense probably benign 0.13
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'- CCCAGAAAGAGCGCTTTGAG -3'
(R):5'- ACAAAATGGACGTCCGGTG -3'

Sequencing Primer
(F):5'- AGCGCTTTGAGAGGAGCC -3'
(R):5'- GGTGCCACTCGGACACC -3'
Posted On 2017-02-15