Incidental Mutation 'R6874:Vax1'
ID 536344
Institutional Source Beutler Lab
Gene Symbol Vax1
Ensembl Gene ENSMUSG00000006270
Gene Name ventral anterior homeobox 1
Synonyms
MMRRC Submission 045029-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.859) question?
Stock # R6874 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 59154619-59158488 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 59156955 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 126 (V126E)
Ref Sequence ENSEMBL: ENSMUSP00000134642 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000172821]
AlphaFold Q2NKI2
Predicted Effect unknown
Transcript: ENSMUST00000172821
AA Change: V126E
SMART Domains Protein: ENSMUSP00000134642
Gene: ENSMUSG00000006270
AA Change: V126E

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A G 7: 119,851,428 (GRCm39) D802G possibly damaging Het
Acsl5 A G 19: 55,280,295 (GRCm39) T523A probably damaging Het
Adamts7 A T 9: 90,070,784 (GRCm39) D635V probably damaging Het
Akr1c12 C A 13: 4,322,959 (GRCm39) G217C probably benign Het
Astn1 C A 1: 158,491,644 (GRCm39) S1007* probably null Het
Cntln T C 4: 84,985,996 (GRCm39) L988P probably damaging Het
Dcps A T 9: 35,087,263 (GRCm39) M1K probably null Het
Dnai1 T A 4: 41,632,412 (GRCm39) L582Q probably damaging Het
Dst A T 1: 34,328,732 (GRCm39) Q7118L probably benign Het
Ehd2 T A 7: 15,684,363 (GRCm39) T479S probably benign Het
Fbxl7 T C 15: 26,553,028 (GRCm39) I80V probably benign Het
Fry T C 5: 150,360,768 (GRCm39) V125A probably benign Het
Gm12695 A T 4: 96,673,306 (GRCm39) I31K probably benign Het
Gm5591 T C 7: 38,219,715 (GRCm39) E386G probably damaging Het
Helz G T 11: 107,554,460 (GRCm39) R1219S probably damaging Het
Hes3 G T 4: 152,371,695 (GRCm39) P85T possibly damaging Het
Igkv3-2 A T 6: 70,675,822 (GRCm39) R44* probably null Het
Igsf9 A G 1: 172,322,096 (GRCm39) T496A probably benign Het
Irf2bp1 G T 7: 18,739,142 (GRCm39) A261S possibly damaging Het
Jph2 G A 2: 163,181,407 (GRCm39) P586S probably benign Het
Klhl11 T C 11: 100,363,031 (GRCm39) H175R probably benign Het
Ksr2 G T 5: 117,894,401 (GRCm39) E847* probably null Het
Lats1 T A 10: 7,586,615 (GRCm39) Y926N probably damaging Het
Lmbr1 A T 5: 29,497,904 (GRCm39) L33H probably damaging Het
Lrp10 T C 14: 54,705,670 (GRCm39) S287P possibly damaging Het
Map3k6 G A 4: 132,977,967 (GRCm39) E976K probably benign Het
Mfsd6 T A 1: 52,699,868 (GRCm39) D760V probably benign Het
Muc16 G T 9: 18,570,065 (GRCm39) S818* probably null Het
Muc5ac C T 7: 141,363,481 (GRCm39) probably benign Het
Nagpa T C 16: 5,013,921 (GRCm39) T306A probably benign Het
Nisch G T 14: 30,898,641 (GRCm39) probably benign Het
Nrxn3 T C 12: 90,298,964 (GRCm39) V1028A probably damaging Het
Nucb1 T C 7: 45,152,618 (GRCm39) N75S probably benign Het
Or11a4 T C 17: 37,536,238 (GRCm39) V74A probably benign Het
Or1e1d-ps1 T G 11: 73,819,068 (GRCm39) M6R probably null Het
Or51a43 T A 7: 103,717,396 (GRCm39) I281F possibly damaging Het
Or5h23 T A 16: 58,906,312 (GRCm39) Y178F probably benign Het
Or7g19 T A 9: 18,856,777 (GRCm39) Y278N possibly damaging Het
Or8b57 A G 9: 40,004,022 (GRCm39) V80A probably benign Het
Or8k24 C T 2: 86,215,872 (GRCm39) V297I possibly damaging Het
Pik3c2a A G 7: 115,993,540 (GRCm39) L409S probably damaging Het
Pkhd1l1 T A 15: 44,452,923 (GRCm39) D3949E probably benign Het
Prune2 C A 19: 17,100,592 (GRCm39) P2032Q probably damaging Het
Ptms T C 6: 124,891,194 (GRCm39) probably benign Het
Ptp4a3 A G 15: 73,595,259 (GRCm39) probably benign Het
Ptprq T C 10: 107,554,460 (GRCm39) I88M possibly damaging Het
Radil T A 5: 142,492,557 (GRCm39) D357V probably damaging Het
Runx2 G A 17: 45,125,079 (GRCm39) P80L probably damaging Het
Supt20 A G 3: 54,635,175 (GRCm39) probably null Het
Thoc5 T C 11: 4,851,261 (GRCm39) I69T probably damaging Het
Trib2 G C 12: 15,865,338 (GRCm39) S79W probably damaging Het
Trpc6 A G 9: 8,680,439 (GRCm39) D889G probably damaging Het
Usf3 T C 16: 44,040,103 (GRCm39) S1528P probably benign Het
Vgf A G 5: 137,060,386 (GRCm39) probably benign Het
Vmn2r1 T A 3: 64,012,376 (GRCm39) C746S probably damaging Het
Vmn2r77 A G 7: 86,451,286 (GRCm39) T391A probably benign Het
Zfp738 C A 13: 67,818,382 (GRCm39) E536D possibly damaging 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
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
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'- AAGACCTTCGTCCCCATTCG -3'
(R):5'- AGCTAGCTCTGATCAAGGAGG -3'

Sequencing Primer
(F):5'- ATTCGTTCCGTTTCCTCCACG -3'
(R):5'- CTAGCTCTGATCAAGGAGGCAGAG -3'
Posted On 2018-10-18