Incidental Mutation 'R7651:Hoxa3'
ID 590832
Institutional Source Beutler Lab
Gene Symbol Hoxa3
Ensembl Gene ENSMUSG00000079560
Gene Name homeobox A3
Synonyms Hox-1.5, Mo-10
MMRRC Submission 045728-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7651 (G1)
Quality Score 205.009
Status Not validated
Chromosome 6
Chromosomal Location 52146042-52190316 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 52149253 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 126 (V126A)
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: V126A
SMART Domains Protein: ENSMUSP00000110077
Gene: ENSMUSG00000079560
AA Change: V126A

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: 98.7%
Validation Efficiency
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930438A08Rik T G 11: 58,184,188 (GRCm39) V302G Het
A230072I06Rik T C 8: 12,329,689 (GRCm39) I48T unknown Het
Ada T A 2: 163,574,275 (GRCm39) D127V probably damaging Het
Alb G C 5: 90,615,214 (GRCm39) R242P probably damaging Het
Ankrd34c T C 9: 89,611,463 (GRCm39) R293G possibly damaging Het
Ap2b1 T C 11: 83,230,256 (GRCm39) probably null Het
Arhgef16 A G 4: 154,375,524 (GRCm39) S157P probably damaging Het
Atp2b1 C T 10: 98,852,830 (GRCm39) L1036F probably damaging Het
Ccdc27 A T 4: 154,112,556 (GRCm39) I573N probably damaging Het
Cep164 T C 9: 45,685,150 (GRCm39) E869G probably benign Het
Colq A T 14: 31,250,292 (GRCm39) V381D possibly damaging Het
Drc1 A G 5: 30,516,958 (GRCm39) E519G probably benign Het
Drosha G A 15: 12,859,522 (GRCm39) V577I probably benign Het
Epg5 C T 18: 78,024,615 (GRCm39) Q1157* probably null Het
Eqtn T C 4: 94,811,944 (GRCm39) S150G possibly damaging Het
Fam110d C T 4: 133,978,959 (GRCm39) R173H probably damaging Het
Fam216a G A 5: 122,505,445 (GRCm39) H172Y probably damaging Het
Fbxw19 T A 9: 109,323,714 (GRCm39) D87V probably damaging Het
Fgr A T 4: 132,722,324 (GRCm39) I198F probably damaging Het
Flnc A G 6: 29,444,049 (GRCm39) D621G probably benign Het
Flt3 A C 5: 147,291,732 (GRCm39) Y573D probably damaging Het
Git2 A T 5: 114,871,296 (GRCm39) I603N probably damaging Het
Gm4559 C T 7: 141,827,553 (GRCm39) R183K unknown Het
Gnb5 T C 9: 75,250,853 (GRCm39) F326L probably damaging Het
Grm8 A T 6: 27,760,257 (GRCm39) W358R possibly damaging Het
Hras T C 7: 140,772,064 (GRCm39) T144A possibly damaging Het
Hyal1 G A 9: 107,455,569 (GRCm39) R293H probably damaging Het
Ifnlr1 A G 4: 135,417,919 (GRCm39) S49G possibly damaging Het
Ighv8-11 C A 12: 115,531,005 (GRCm39) C41F probably benign Het
Jakmip1 A G 5: 37,291,617 (GRCm39) T689A probably damaging Het
Kcnb1 T C 2: 167,030,281 (GRCm39) H88R probably damaging Het
Kcnt2 T A 1: 140,498,199 (GRCm39) M892K probably benign Het
Lrba C A 3: 86,648,773 (GRCm39) S2507* probably null Het
Mbp C T 18: 82,572,499 (GRCm39) T65I probably damaging Het
Muc2 A T 7: 141,290,750 (GRCm39) Y12F Het
Muc4 T A 16: 32,576,949 (GRCm39) S80T Het
Muc5ac A G 7: 141,349,991 (GRCm39) D579G possibly damaging Het
Muc5b A G 7: 141,417,760 (GRCm39) T3569A possibly damaging Het
Myb C T 10: 21,032,273 (GRCm39) R36H probably damaging Het
Myo6 T C 9: 80,171,548 (GRCm39) probably null Het
Ogfod1 T C 8: 94,763,981 (GRCm39) V22A probably benign Het
Orai3 A G 7: 127,373,236 (GRCm39) I246V probably damaging Het
Otog A G 7: 45,891,185 (GRCm39) M68V probably benign Het
Pcdh20 T A 14: 88,706,589 (GRCm39) D237V probably damaging Het
Pcdhb18 T C 18: 37,624,046 (GRCm39) F459L probably benign Het
Pik3c2g C T 6: 139,599,070 (GRCm39) T62M possibly damaging Het
Plaa T C 4: 94,470,876 (GRCm39) Y420C probably damaging Het
Ppp1r9b C T 11: 94,892,768 (GRCm39) A656V probably benign Het
Pramel39-ps T C 5: 94,451,236 (GRCm39) T297A probably benign Het
Prg4 T A 1: 150,330,696 (GRCm39) E659V unknown Het
Prlhr C A 19: 60,455,583 (GRCm39) A328S probably benign Het
Prlr A T 15: 10,328,464 (GRCm39) D313V probably benign Het
Prune2 C T 19: 17,097,772 (GRCm39) T1092I probably damaging Het
Psme4 T A 11: 30,787,334 (GRCm39) L1043H probably damaging Het
Ptprr T C 10: 116,087,084 (GRCm39) V521A probably benign Het
Rab44 A T 17: 29,367,179 (GRCm39) D703V unknown Het
Rpl9-ps1 A T 11: 83,535,911 (GRCm39) Y179* probably null Het
Scg3 T A 9: 75,589,332 (GRCm39) N107I probably benign Het
Sh3bgrl2 T C 9: 83,430,525 (GRCm39) V5A possibly damaging Het
Slc7a12 T C 3: 14,546,509 (GRCm39) V218A probably benign Het
Sorcs2 A G 5: 36,185,322 (GRCm39) L918P probably damaging Het
Sox1 C A 8: 12,446,686 (GRCm39) A109E probably damaging Het
Syne1 T A 10: 5,155,074 (GRCm39) M5622L probably benign Het
Syne1 A T 10: 5,293,416 (GRCm39) L1305Q probably damaging Het
Tacc2 A T 7: 130,224,884 (GRCm39) H523L probably benign Het
Tas1r2 A T 4: 139,396,938 (GRCm39) D788V probably benign Het
Tcl1b5 T A 12: 105,142,694 (GRCm39) D7E possibly damaging Het
Tesc A G 5: 118,194,666 (GRCm39) D159G possibly damaging Het
Tm2d2 G T 8: 25,507,316 (GRCm39) probably benign Het
Tnfrsf11a T A 1: 105,737,171 (GRCm39) C93S probably damaging Het
Tnfsf4 T C 1: 161,244,593 (GRCm39) V94A probably benign Het
Trav13n-3 T A 14: 53,574,964 (GRCm39) Y69N probably benign Het
Utp20 T C 10: 88,590,457 (GRCm39) D2339G probably benign Het
Vmn1r225 A G 17: 20,722,611 (GRCm39) I17M possibly damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vmn2r114 G T 17: 23,509,986 (GRCm39) Y831* probably null Het
Vmn2r72 T A 7: 85,401,146 (GRCm39) N91I probably damaging Het
Zfp846 T C 9: 20,499,808 (GRCm39) S13P possibly damaging Het
Zfp934 G T 13: 62,666,327 (GRCm39) N116K 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
R7853:Hoxa3 UTSW 6 52,147,267 (GRCm39) unclassified probably benign
R8274:Hoxa3 UTSW 6 52,147,524 (GRCm39) missense unknown
X0057:Hoxa3 UTSW 6 52,147,421 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TCCTAAAGGCATTCATTTACCTGAGC -3'
(R):5'- TTGAGTACCATCGACCTGCC -3'

Sequencing Primer
(F):5'- GCATTCATTTACCTGAGCTGGAGC -3'
(R):5'- GTACCATCGACCTGCCTGCTC -3'
Posted On 2019-10-24