Incidental Mutation 'R7558:Vax1'
ID 584917
Institutional Source Beutler Lab
Gene Symbol Vax1
Ensembl Gene ENSMUSG00000006270
Gene Name ventral anterior homeobox 1
Synonyms
MMRRC Submission 045625-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.859) question?
Stock # R7558 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 59154619-59158488 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 59158416 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 16 (T16A)
Ref Sequence ENSEMBL: ENSMUSP00000134642 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000172821]
AlphaFold Q2NKI2
Predicted Effect unknown
Transcript: ENSMUST00000172821
AA Change: T16A
SMART Domains Protein: ENSMUSP00000134642
Gene: ENSMUSG00000006270
AA Change: T16A

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
Meta Mutation Damage Score 0.0852 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 98% (56/57)
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
1700093K21Rik G T 11: 23,466,285 (GRCm39) probably null Het
Adgrg6 A T 10: 14,307,351 (GRCm39) M817K probably damaging Het
Adh6b T A 3: 138,058,297 (GRCm39) D53E probably benign Het
Ap3d1 A G 10: 80,558,755 (GRCm39) V283A possibly damaging Het
Arhgap21 A G 2: 20,860,421 (GRCm39) Y1329H probably damaging Het
B3gnt9 T C 8: 105,981,304 (GRCm39) Y28C probably benign Het
Cactin CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG 10: 81,157,152 (GRCm39) probably benign Het
Chrd T A 16: 20,557,304 (GRCm39) V641E probably damaging Het
Clvs2 A T 10: 33,419,460 (GRCm39) I198N probably damaging Het
Cplane1 C T 15: 8,254,851 (GRCm39) R13C unknown Het
Dbndd2 T C 2: 164,332,136 (GRCm39) S120P probably benign Het
Dsg2 G A 18: 20,727,291 (GRCm39) V613I probably benign Het
Dsp A G 13: 38,352,742 (GRCm39) M207V probably benign Het
Fignl2 T C 15: 100,952,264 (GRCm39) E6G probably damaging Het
Fmod A G 1: 133,968,731 (GRCm39) Y257C probably benign Het
Foxk2 T C 11: 121,178,884 (GRCm39) S239P probably benign Het
Fstl5 C T 3: 76,337,092 (GRCm39) T217I possibly damaging Het
Gdi1 G A X: 73,350,461 (GRCm39) R55H probably benign Het
Gm45140 G A 6: 87,798,511 (GRCm39) S34F Het
H2-Q6 A G 17: 35,644,595 (GRCm39) E128G probably benign Het
Hmmr A G 11: 40,624,156 (GRCm39) F11L probably damaging Het
Igfbpl1 G T 4: 45,813,497 (GRCm39) N239K probably damaging Het
Itpr2 G T 6: 146,292,363 (GRCm39) D443E probably damaging Het
Kcnt2 A T 1: 140,450,928 (GRCm39) I736F probably damaging Het
Kctd11 A T 11: 69,770,416 (GRCm39) H207Q probably benign Het
Kif16b A T 2: 142,600,746 (GRCm39) D462E probably damaging Het
Kif5a G A 10: 127,083,948 (GRCm39) T81I probably damaging Het
Lemd2 C A 17: 27,423,137 (GRCm39) A86S probably benign Het
Lrp1b T C 2: 41,231,948 (GRCm39) D1174G Het
Lrrc8b G T 5: 105,629,577 (GRCm39) W641L probably damaging Het
Malt1 T C 18: 65,595,905 (GRCm39) C438R probably damaging Het
Marchf8 T C 6: 116,380,526 (GRCm39) F126L possibly damaging Het
Nalcn C A 14: 123,723,797 (GRCm39) probably null Het
Nyap2 A T 1: 81,247,088 (GRCm39) T679S probably benign Het
Or52n4b C G 7: 108,143,928 (GRCm39) Y65* probably null Het
Or5b3 T A 19: 13,388,355 (GRCm39) C141S probably damaging Het
Otog C A 7: 45,952,584 (GRCm39) P419Q probably damaging Het
Pabpc4 T G 4: 123,188,413 (GRCm39) S341A possibly damaging Het
Pikfyve T A 1: 65,311,782 (GRCm39) H2006Q probably benign Het
Ppp2r5e A T 12: 75,511,766 (GRCm39) V319D probably damaging Het
Ptk2b T C 14: 66,391,628 (GRCm39) S969G possibly damaging Het
Rasal2 G A 1: 157,003,406 (GRCm39) R436C probably damaging Het
Rpap1 A T 2: 119,601,735 (GRCm39) F742I probably benign Het
Ryr2 G A 13: 11,814,711 (GRCm39) T687M probably damaging Het
Sec16a A T 2: 26,329,746 (GRCm39) F7L Het
Slc14a2 A G 18: 78,235,334 (GRCm39) I143T probably benign Het
Slc22a26 T A 19: 7,762,651 (GRCm39) M430L possibly damaging Het
Smarcc1 C A 9: 109,976,184 (GRCm39) T157K probably damaging Het
Tmem87a A G 2: 120,204,991 (GRCm39) I375T probably benign Het
Tmprss15 T C 16: 78,800,302 (GRCm39) I609V possibly damaging Het
Tnk2 C A 16: 32,498,903 (GRCm39) Q739K probably benign Het
Trio T A 15: 27,831,480 (GRCm39) I1340F possibly damaging Het
Trpm6 T C 19: 18,756,029 (GRCm39) F91L probably damaging Het
Vps13d T G 4: 144,881,150 (GRCm39) H1481P Het
Zbtb7a A G 10: 80,984,269 (GRCm39) *570W probably null 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
R6874:Vax1 UTSW 19 59,156,955 (GRCm39) missense unknown
R8788:Vax1 UTSW 19 59,158,247 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TAGGATCCGGCGACAGTAATC -3'
(R):5'- ACTGGACGTGCTCAAAGGAC -3'

Sequencing Primer
(F):5'- ACAGTAATCTGGGTCCGCTGAG -3'
(R):5'- ACATTCATTCTGGCGGGC -3'
Posted On 2019-10-17