Incidental Mutation 'R5753:Vax1'
ID 444924
Institutional Source Beutler Lab
Gene Symbol Vax1
Ensembl Gene ENSMUSG00000006270
Gene Name ventral anterior homeobox 1
Synonyms
MMRRC Submission 043358-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.859) question?
Stock # R5753 (G1)
Quality Score 166
Status Not validated
Chromosome 19
Chromosomal Location 59154619-59158488 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 59154814 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 274 (H274Q)
Ref Sequence ENSEMBL: ENSMUSP00000134642 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000172821]
AlphaFold Q2NKI2
Predicted Effect probably benign
Transcript: ENSMUST00000172821
AA Change: H274Q

PolyPhen 2 Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000134642
Gene: ENSMUSG00000006270
AA Change: H274Q

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: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 96.0%
Validation Efficiency 97% (58/60)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik C T 5: 88,120,374 (GRCm39) T377I probably damaging Het
Abcb1a A G 5: 8,773,160 (GRCm39) D796G probably damaging Het
Actn3 T C 19: 4,914,595 (GRCm39) probably null Het
Ada A T 2: 163,577,318 (GRCm39) S57T probably benign Het
Adamts6 A G 13: 104,483,858 (GRCm39) Y359C probably damaging Het
Adcy1 A T 11: 7,080,300 (GRCm39) I348F probably damaging Het
Ankrd11 T C 8: 123,622,043 (GRCm39) E603G possibly damaging Het
Bcas3 A G 11: 85,712,910 (GRCm39) probably benign Het
Cldn1 C A 16: 26,181,871 (GRCm39) V113L probably benign Het
Dock9 T C 14: 121,872,037 (GRCm39) T540A probably benign Het
Erp27 A G 6: 136,896,875 (GRCm39) F109S probably damaging Het
F13a1 G A 13: 37,082,082 (GRCm39) Q541* probably null Het
Fam124a T C 14: 62,843,988 (GRCm39) S499P probably benign Het
Fgd3 T A 13: 49,428,416 (GRCm39) E486V possibly damaging Het
Flnc T C 6: 29,433,488 (GRCm39) S11P probably benign Het
Gm12508 C A 4: 55,254,787 (GRCm39) noncoding transcript Het
Grk2 C T 19: 4,340,496 (GRCm39) R295H probably damaging Het
Gtf2ird1 A G 5: 134,439,837 (GRCm39) M131T probably damaging Het
H4c4 G A 13: 23,765,587 (GRCm39) M1I probably null Het
Itpripl2 A G 7: 118,090,232 (GRCm39) V109A probably damaging Het
Jakmip2 T C 18: 43,692,181 (GRCm39) E585G probably damaging Het
Kbtbd3 A T 9: 4,331,404 (GRCm39) I593F possibly damaging Het
Lgr4 C T 2: 109,832,857 (GRCm39) Q316* probably null Het
Mcf2l T C 8: 13,049,993 (GRCm39) F305S probably damaging Het
Nos1ap T A 1: 170,176,968 (GRCm39) K145M probably damaging Het
Or4c3 T C 2: 89,851,847 (GRCm39) T188A possibly damaging Het
Or4k51 T A 2: 111,585,146 (GRCm39) I184K possibly damaging Het
Or4q3 T A 14: 50,583,045 (GRCm39) T285S probably damaging Het
Or51b17 A G 7: 103,542,408 (GRCm39) L178P probably damaging Het
Or5d18 G A 2: 87,864,920 (GRCm39) L188F probably damaging Het
Or5w18 A T 2: 87,633,596 (GRCm39) M288L probably benign Het
Or7a40 A T 16: 16,491,484 (GRCm39) Y120* probably null Het
Pcdh9 T A 14: 94,125,597 (GRCm39) D191V probably damaging Het
Pde4d T A 13: 109,909,256 (GRCm39) probably benign Het
Phkb C T 8: 86,604,859 (GRCm39) A88V probably damaging Het
Plec A G 15: 76,057,620 (GRCm39) S4128P probably damaging Het
Plekha5 A T 6: 140,482,730 (GRCm39) probably null Het
Rgs13 A C 1: 144,016,478 (GRCm39) N88K probably benign Het
Rho T A 6: 115,912,448 (GRCm39) I104N probably damaging Het
Rnps1 T C 17: 24,637,138 (GRCm39) probably benign Het
Saxo5 A T 8: 3,534,112 (GRCm39) I350L probably benign Het
Slc10a7 G T 8: 79,251,928 (GRCm39) probably null Het
Slc39a7 C T 17: 34,249,150 (GRCm39) R246K probably damaging Het
Sort1 G C 3: 108,253,090 (GRCm39) G510A probably damaging Het
Spag6l A G 16: 16,584,831 (GRCm39) probably null Het
Sync T A 4: 129,187,179 (GRCm39) Y70* probably null Het
Timm8a2 T C 14: 122,272,289 (GRCm39) V64A probably benign Het
Tnfrsf11b C A 15: 54,117,455 (GRCm39) V267L possibly damaging Het
Trim30b A G 7: 104,006,544 (GRCm39) V104A possibly damaging Het
Tusc3 T C 8: 39,564,100 (GRCm39) S244P probably damaging Het
Usp16 T A 16: 87,279,787 (GRCm39) Y746N probably damaging Het
Vmn2r108 A G 17: 20,683,179 (GRCm39) V675A probably damaging Het
Vmn2r12 A T 5: 109,239,670 (GRCm39) W298R probably damaging Het
Zfp948 A G 17: 21,807,156 (GRCm39) N116S probably damaging Het
Zkscan2 A G 7: 123,079,923 (GRCm39) V678A 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
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'- ACGCAGGCGAGTTCATAAATAC -3'
(R):5'- TCCAGAATCGGCGGACTAAG -3'

Sequencing Primer
(F):5'- GGGTAACACTTAAAATCAGTCCAGCG -3'
(R):5'- AAGGACTCGGAGCTGCG -3'
Posted On 2016-11-21