Incidental Mutation 'IGL01710:Hoxa3'
ID104749
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hoxa3
Ensembl Gene ENSMUSG00000079560
Gene Namehomeobox A3
SynonymsMo-10, Hox-1.5
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01710
Quality Score
Status
Chromosome6
Chromosomal Location52169062-52213336 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to C at 52170574 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000114711 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114434] [ENSMUST00000128102] [ENSMUST00000134831]
Predicted Effect unknown
Transcript: ENSMUST00000114434
AA Change: E233G
SMART Domains Protein: ENSMUSP00000110077
Gene: ENSMUSG00000079560
AA Change: E233G

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: ENSMUST00000155922
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189230
Coding Region Coverage
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim3 G A 18: 61,871,574 T48I probably damaging Het
Ccpg1 T C 9: 72,997,441 probably benign Het
Chkb G A 15: 89,426,640 Q379* probably null Het
Chst15 T A 7: 132,270,507 D15V probably benign Het
Cntn4 G A 6: 106,550,431 V425I possibly damaging Het
Cpa6 T A 1: 10,325,272 N390I probably damaging Het
Efhd2 A G 4: 141,860,561 F193S probably damaging Het
Ell3 T C 2: 121,441,512 H128R probably damaging Het
Ercc5 T G 1: 44,164,075 L291V probably damaging Het
Eva1c A G 16: 90,904,347 Y302C probably damaging Het
Fmo3 A C 1: 162,983,043 L26R probably damaging Het
Galntl6 T A 8: 58,535,968 D17V probably damaging Het
Gm6483 C T 8: 19,691,613 P55S probably damaging Het
Gstt2 A G 10: 75,833,745 probably benign Het
Hmcn2 T A 2: 31,343,102 L221Q probably damaging Het
Kctd12b T C X: 153,689,483 D70G probably damaging Het
Kdm7a T A 6: 39,175,386 E125D probably benign Het
Klk1b21 T A 7: 44,106,495 F249L probably benign Het
Mrpl41 T C 2: 24,974,417 D81G possibly damaging Het
Nomo1 T A 7: 46,038,556 L82Q probably damaging Het
Olfr482 G T 7: 108,095,242 F109L probably benign Het
Papolg A T 11: 23,864,026 S718T probably damaging Het
Pex6 A G 17: 46,725,326 probably benign Het
Pi4k2a T A 19: 42,104,979 L253Q probably damaging Het
Prdx6b T A 2: 80,293,146 F100I probably damaging Het
Prr36 G A 8: 4,215,243 P169L probably damaging Het
Ptgfrn T C 3: 101,073,088 E312G probably damaging Het
Rasgrf1 A G 9: 89,991,692 I685V probably benign Het
Setdb1 T C 3: 95,338,853 E586G probably damaging Het
Sez6l2 C A 7: 126,968,216 T841K probably damaging Het
Slc25a17 A T 15: 81,327,326 L163* probably null Het
Slc35f3 A T 8: 126,389,161 I276F probably benign Het
Tcerg1l T A 7: 138,395,060 K149N possibly damaging Het
Tex28 T A X: 74,152,333 K278* probably null Het
Tmprss9 A G 10: 80,897,959 probably benign Het
Tnfaip8l1 A G 17: 56,171,782 K24R probably benign Het
Trim36 T C 18: 46,188,388 probably benign Het
Uba1 C T X: 20,671,365 T274I possibly damaging Het
Ubr2 T C 17: 46,943,409 T1439A probably benign Het
Ubr4 A G 4: 139,418,461 D1523G possibly damaging Het
Uchl4 A T 9: 64,235,506 T90S probably benign Het
Other mutations in Hoxa3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02346:Hoxa3 APN 6 52170599 unclassified probably benign
FR4342:Hoxa3 UTSW 6 52170130 unclassified probably benign
IGL03052:Hoxa3 UTSW 6 52170287 unclassified probably benign
R0197:Hoxa3 UTSW 6 52170143 unclassified probably benign
R1017:Hoxa3 UTSW 6 52172406 unclassified probably null
R1180:Hoxa3 UTSW 6 52170402 nonsense probably null
R1927:Hoxa3 UTSW 6 52169999 unclassified probably benign
R1999:Hoxa3 UTSW 6 52170402 nonsense probably null
R4939:Hoxa3 UTSW 6 52170676 unclassified probably benign
R5931:Hoxa3 UTSW 6 52172588 missense probably damaging 1.00
R5995:Hoxa3 UTSW 6 52170283 unclassified probably benign
R6658:Hoxa3 UTSW 6 52170078 nonsense probably null
X0057:Hoxa3 UTSW 6 52170441 nonsense probably null
Posted On2014-01-21