Incidental Mutation 'R8274:Hoxa3'
ID 637890
Institutional Source Beutler Lab
Gene Symbol Hoxa3
Ensembl Gene ENSMUSG00000079560
Gene Name homeobox A3
Synonyms Hox-1.5, Mo-10
MMRRC Submission 067697-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8274 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 52146042-52190316 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 52147524 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 243 (R243L)
Ref Sequence ENSEMBL: ENSMUSP00000110077 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114434] [ENSMUST00000128102] [ENSMUST00000134831]
AlphaFold P02831
Predicted Effect unknown
Transcript: ENSMUST00000114434
AA Change: R243L
SMART Domains Protein: ENSMUSP00000110077
Gene: ENSMUSG00000079560
AA Change: R243L

DomainStartEndE-ValueType
low complexity region 76 131 N/A INTRINSIC
HOX 192 254 3.35e-28 SMART
low complexity region 287 302 N/A INTRINSIC
low complexity region 304 326 N/A INTRINSIC
Pfam:DUF4074 377 441 9e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128102
Predicted Effect probably benign
Transcript: ENSMUST00000134831
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.5%
Validation Efficiency 100% (46/46)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations are athymic, aparathyroid, and exhibit reduced thyroid and submaxillary glands, defects of the IXth nerve, and frequently, heart and artery abnormalities. Mutants die neonatally. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921536K21Rik T C 11: 3,844,964 (GRCm39) T42A possibly damaging Het
Adamts6 T C 13: 104,450,181 (GRCm39) V294A probably benign Het
Ahr A C 12: 35,560,068 (GRCm39) V195G probably benign Het
Ankrd17 A T 5: 90,430,718 (GRCm39) I1022N probably benign Het
Arsk A T 13: 76,220,303 (GRCm39) C264S probably damaging Het
Astn2 A G 4: 65,570,098 (GRCm39) probably null Het
Atf7ip C A 6: 136,537,988 (GRCm39) T407K probably benign Het
Axl A G 7: 25,463,438 (GRCm39) I613T probably damaging Het
Baz2a T C 10: 127,957,716 (GRCm39) M1021T probably benign Het
Cacna2d2 T C 9: 107,401,861 (GRCm39) V765A possibly damaging Het
Chd7 T C 4: 8,839,432 (GRCm39) Y1323H probably damaging Het
Col7a1 G T 9: 108,799,029 (GRCm39) G1794V probably damaging Het
Csmd1 T C 8: 15,960,453 (GRCm39) M3321V possibly damaging Het
Dcp1b T C 6: 119,160,612 (GRCm39) S65P probably damaging Het
Depdc7 A G 2: 104,558,551 (GRCm39) S157P probably benign Het
Dnah1 T A 14: 31,017,531 (GRCm39) H1500L probably benign Het
Erbb2 C T 11: 98,324,722 (GRCm39) A772V probably damaging Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fat3 T A 9: 16,288,786 (GRCm39) K246* probably null Het
Fbxl9 T A 8: 106,042,166 (GRCm39) I221F probably benign Het
Gbp4 T C 5: 105,267,338 (GRCm39) N527S probably benign Het
Gpr157 C T 4: 150,172,500 (GRCm39) T97M probably damaging Het
Gpt2 T C 8: 86,242,853 (GRCm39) L295P probably benign Het
Grm8 T A 6: 27,761,335 (GRCm39) K296N probably benign Het
Gss T A 2: 155,429,424 (GRCm39) I23L probably benign Het
Hk3 A G 13: 55,159,230 (GRCm39) V442A possibly damaging Het
Junb T A 8: 85,705,058 (GRCm39) M1L possibly damaging Het
Kcnh6 T C 11: 105,910,987 (GRCm39) I514T probably damaging Het
Kif11 C A 19: 37,391,994 (GRCm39) T463N probably damaging Het
Lmf2 C T 15: 89,236,866 (GRCm39) G459S probably damaging Het
Lpl A G 8: 69,345,250 (GRCm39) T85A possibly damaging Het
Myo9b G A 8: 71,812,480 (GRCm39) A2084T probably benign Het
Oog4 T A 4: 143,166,459 (GRCm39) probably benign Het
Or7g18 T A 9: 18,786,795 (GRCm39) H57Q probably benign Het
Polr2a G A 11: 69,638,882 (GRCm39) R51C probably damaging Het
Ppip5k2 A G 1: 97,686,941 (GRCm39) V94A possibly damaging Het
Ptprk G T 10: 28,456,408 (GRCm39) R1056L probably damaging Het
Rfx2 C T 17: 57,111,348 (GRCm39) A75T probably benign Het
Scn11a T C 9: 119,632,548 (GRCm39) T441A probably benign Het
Siglec1 A G 2: 130,925,830 (GRCm39) V292A probably benign Het
Smok2a G A 17: 13,445,781 (GRCm39) A453T probably benign Het
Tmcc3 T C 10: 94,422,738 (GRCm39) V427A probably damaging Het
Tmem208 T G 8: 106,055,257 (GRCm39) I106S probably damaging Het
Tpr A G 1: 150,299,230 (GRCm39) probably benign Het
Trav9-2 G T 14: 53,828,810 (GRCm39) R60L probably benign Het
Vcan T C 13: 89,853,089 (GRCm39) K624E probably benign Het
Zfp318 A T 17: 46,723,915 (GRCm39) M1973L probably benign Het
Other mutations in Hoxa3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01710:Hoxa3 APN 6 52,147,554 (GRCm39) unclassified probably benign
IGL02346:Hoxa3 APN 6 52,147,579 (GRCm39) unclassified probably benign
FR4342:Hoxa3 UTSW 6 52,147,110 (GRCm39) unclassified probably benign
IGL03052:Hoxa3 UTSW 6 52,147,267 (GRCm39) unclassified probably benign
PIT4515001:Hoxa3 UTSW 6 52,147,164 (GRCm39) missense unknown
R0197:Hoxa3 UTSW 6 52,147,123 (GRCm39) unclassified probably benign
R1017:Hoxa3 UTSW 6 52,149,386 (GRCm39) splice site probably null
R1180:Hoxa3 UTSW 6 52,147,382 (GRCm39) nonsense probably null
R1927:Hoxa3 UTSW 6 52,146,979 (GRCm39) unclassified probably benign
R1999:Hoxa3 UTSW 6 52,147,382 (GRCm39) nonsense probably null
R4939:Hoxa3 UTSW 6 52,147,656 (GRCm39) unclassified probably benign
R5931:Hoxa3 UTSW 6 52,149,568 (GRCm39) missense probably damaging 1.00
R5995:Hoxa3 UTSW 6 52,147,263 (GRCm39) unclassified probably benign
R6658:Hoxa3 UTSW 6 52,147,058 (GRCm39) nonsense probably null
R7651:Hoxa3 UTSW 6 52,149,253 (GRCm39) missense unknown
R7853:Hoxa3 UTSW 6 52,147,267 (GRCm39) unclassified probably benign
X0057:Hoxa3 UTSW 6 52,147,421 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TCATGGGCTCCACATAGCTG -3'
(R):5'- AGGACCACAGCACTGAAGTC -3'

Sequencing Primer
(F):5'- GGTCCCATAGCTGCCATTG -3'
(R):5'- AGCACTGAAGTCCTGCTCC -3'
Posted On 2020-07-28