Incidental Mutation 'IGL03052:Hoxa3'
ID 392176
Institutional Source Beutler Lab
Gene Symbol Hoxa3
Ensembl Gene ENSMUSG00000079560
Gene Name homeobox A3
Synonyms Hox-1.5, Mo-10
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03052 (G1)
Quality Score 167
Status Validated
Chromosome 6
Chromosomal Location 52146042-52190316 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) G to A at 52147267 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000114711 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114434] [ENSMUST00000128102] [ENSMUST00000134831]
AlphaFold P02831
Predicted Effect unknown
Transcript: ENSMUST00000114434
AA Change: R329C
SMART Domains Protein: ENSMUSP00000110077
Gene: ENSMUSG00000079560
AA Change: R329C

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 noncoding transcript
Transcript: ENSMUST00000114435
Predicted Effect probably benign
Transcript: ENSMUST00000128102
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133723
Predicted Effect probably benign
Transcript: ENSMUST00000134831
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136806
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139055
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189230
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155922
Meta Mutation Damage Score 0.1210 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 100% (53/53)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap3 T C 4: 155,987,815 (GRCm39) F517S probably damaging Het
Afap1l1 A G 18: 61,881,894 (GRCm39) V267A probably benign Het
Asap1 A G 15: 64,025,683 (GRCm39) probably benign Het
Bcl6 T C 16: 23,793,788 (GRCm39) probably benign Het
Ccdc73 C A 2: 104,782,281 (GRCm39) H212Q possibly damaging Het
Cct5 A T 15: 31,597,633 (GRCm39) H85Q probably damaging Het
Cfap69 A C 5: 5,639,206 (GRCm39) L238R probably damaging Het
Chl1 A T 6: 103,668,628 (GRCm39) T470S probably benign Het
Cnga4 T C 7: 105,053,932 (GRCm39) S12P probably benign Het
Cyp2c29 C T 19: 39,275,662 (GRCm39) T34M possibly damaging Het
Cyp2c67 T C 19: 39,637,329 (GRCm39) D49G possibly damaging Het
Dab2ip A G 2: 35,533,909 (GRCm39) Q45R probably benign Het
Ddhd1 A G 14: 45,858,240 (GRCm39) V164A probably damaging Het
Dnaaf8 A T 16: 4,795,358 (GRCm39) noncoding transcript Het
Dnah7c A G 1: 46,671,309 (GRCm39) Y1566C probably damaging Het
Dnase1l2 T C 17: 24,659,968 (GRCm39) probably benign Het
Dock2 G T 11: 34,182,853 (GRCm39) N1593K probably benign Het
Dpp6 G T 5: 27,914,506 (GRCm39) M530I probably benign Het
Epm2a T C 10: 11,332,974 (GRCm39) V269A possibly damaging Het
Fcna G C 2: 25,520,693 (GRCm39) probably benign Het
Fgf2 A G 3: 37,403,161 (GRCm39) S55G probably benign Het
Frem3 C T 8: 81,341,159 (GRCm39) P1151S probably damaging Het
Gm15737 T C 6: 92,846,481 (GRCm39) probably benign Het
Gpi-ps T A 8: 5,689,816 (GRCm39) noncoding transcript Het
Gvin-ps6 T C 7: 106,022,902 (GRCm39) noncoding transcript Het
Larp7-ps A G 4: 92,079,287 (GRCm39) L178P probably benign Het
Macf1 T C 4: 123,281,188 (GRCm39) I3770V probably damaging Het
Mapk15 G T 15: 75,865,731 (GRCm39) R8L probably benign Het
Mecom C T 3: 30,015,112 (GRCm39) probably benign Het
Mknk2 C T 10: 80,505,496 (GRCm39) R154H probably benign Het
Mrgprb3 A T 7: 48,293,341 (GRCm39) V70E possibly damaging Het
Mtdh A G 15: 34,140,876 (GRCm39) K570E possibly damaging Het
Myo5c G T 9: 75,159,798 (GRCm39) probably benign Het
Myom2 T C 8: 15,173,442 (GRCm39) probably benign Het
Or52m2 C T 7: 102,263,656 (GRCm39) R180Q probably benign Het
Or5b124 T C 19: 13,611,090 (GRCm39) I205T probably benign Het
Or7g25 A T 9: 19,159,938 (GRCm39) Y252* probably null Het
Pcca A T 14: 123,124,513 (GRCm39) M695L probably benign Het
Pcdha2 A T 18: 37,074,670 (GRCm39) D767V probably damaging Het
Plekhs1 G A 19: 56,459,189 (GRCm39) D16N probably benign Het
Prr11 T C 11: 86,994,478 (GRCm39) N56S possibly damaging Het
Rxfp2 A T 5: 149,966,645 (GRCm39) probably benign Het
Sacs G T 14: 61,445,307 (GRCm39) G2451V probably damaging Het
Scarb1 G A 5: 125,371,163 (GRCm39) A4V probably damaging Het
Scart2 G A 7: 139,828,827 (GRCm39) C162Y probably damaging Het
Sik3 C A 9: 46,109,447 (GRCm39) T475K probably damaging Het
Slco1b2 A T 6: 141,594,311 (GRCm39) I59L probably benign Het
Sspo G A 6: 48,437,387 (GRCm39) G1382R probably damaging Het
Stx16 C A 2: 173,934,231 (GRCm39) P145T probably benign Het
Tnrc18 G A 5: 142,760,974 (GRCm39) A674V unknown Het
Uqcrq A G 11: 53,321,476 (GRCm39) V14A possibly damaging Het
Vmn2r79 A T 7: 86,652,799 (GRCm39) E497V probably benign Het
Vps8 T A 16: 21,267,115 (GRCm39) I166K probably damaging Het
Vwa8 A G 14: 79,302,361 (GRCm39) D1010G probably benign Het
Wnk1 T A 6: 119,921,760 (GRCm39) probably benign Het
Zfand3 T A 17: 30,279,798 (GRCm39) M29K 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
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
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'- CAGTAAGGTCCGTGTAGGTG -3'
(R):5'- AGAACCGCCGCATGAAGTAC -3'

Sequencing Primer
(F):5'- TAGTCCATGGCAGCCGAG -3'
(R):5'- AAAGGCATGCTGACCTCGTC -3'
Posted On 2016-06-09