Incidental Mutation 'IGL02072:Hoxa1'
ID185863
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hoxa1
Ensembl Gene ENSMUSG00000029844
Gene Namehomeobox A1
SynonymsHox-1.6, early retinoic acid, ERA1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02072
Quality Score
Status
Chromosome6
Chromosomal Location52155590-52158317 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 52156898 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 283 (M283L)
Ref Sequence ENSEMBL: ENSMUSP00000000964 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000964] [ENSMUST00000120363]
Predicted Effect probably damaging
Transcript: ENSMUST00000000964
AA Change: M283L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000000964
Gene: ENSMUSG00000029844
AA Change: M283L

DomainStartEndE-ValueType
low complexity region 142 148 N/A INTRINSIC
HOX 230 292 1.49e-25 SMART
low complexity region 304 335 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000120363
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129546
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132559
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159006
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183920
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184778
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. The encoded protein may be involved in the placement of hindbrain segments in the proper location along the anterior-posterior axis during development. Two transcript variants encoding two different isoforms have been found for this gene, with only one of the isoforms containing the homeodomain region. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations die perinatally and exhibit altered and missing rhombomeric structures associated with abnormalities of cranial nerves and ganglia, defects in the skull, and both outer and inner ears, and anoxia at birth. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930595D18Rik T A 12: 111,161,820 probably benign Het
Atm A G 9: 53,459,796 S2251P probably benign Het
C1qtnf6 T A 15: 78,527,351 K42* probably null Het
Ddx20 A T 3: 105,680,627 V379E probably damaging Het
Dnah7a A T 1: 53,605,827 W1017R probably damaging Het
Eif2s1 T A 12: 78,880,014 N179K probably benign Het
Exosc9 A T 3: 36,554,672 N140I probably damaging Het
Fam84b A G 15: 60,823,453 L148P probably damaging Het
Fancg A C 4: 43,007,062 H238Q probably benign Het
Fyttd1 A G 16: 32,900,661 I110V probably damaging Het
G6pd2 A T 5: 61,809,410 D176V probably damaging Het
Gm5114 A G 7: 39,411,402 S8P probably benign Het
Hspbp1 A T 7: 4,677,721 L252H probably damaging Het
Itgb2l A T 16: 96,430,608 D319E probably benign Het
Kdm6a A G X: 18,254,289 T737A probably benign Het
Kmt2c A T 5: 25,405,432 D225E possibly damaging Het
Lamb2 T A 9: 108,481,908 Y274* probably null Het
Mamdc4 A G 2: 25,568,339 L353P probably damaging Het
Mid2 T A X: 140,736,452 H258Q probably damaging Het
Msh3 A C 13: 92,300,295 N502K probably damaging Het
Nalcn T C 14: 123,323,358 H769R probably benign Het
Nfx1 A G 4: 41,016,119 I894V probably benign Het
Notch3 G A 17: 32,147,074 Q1018* probably null Het
Oas1e A G 5: 120,791,781 probably null Het
Olfr1316 A T 2: 112,130,081 H243Q probably damaging Het
Olfr854 A G 9: 19,566,949 I145T probably benign Het
Plekha4 T A 7: 45,538,298 F265I probably benign Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Slc9a3 T C 13: 74,165,859 I762T probably benign Het
Spag1 C A 15: 36,190,512 P158Q probably damaging Het
Spout1 G A 2: 30,177,926 Q26* probably null Het
Sulf1 T C 1: 12,848,208 Y50H probably damaging Het
Sytl5 C T X: 9,963,586 probably benign Het
Tcof1 T C 18: 60,831,565 E663G possibly damaging Het
Tmc3 A G 7: 83,615,940 I681V probably benign Het
Tnfsf4 G T 1: 161,417,289 C183F probably damaging Het
Ubqln3 A T 7: 104,141,299 L528Q possibly damaging Het
Upf3a A C 8: 13,798,368 Q388P probably damaging Het
Vrk1 T C 12: 106,042,885 V70A probably benign Het
Other mutations in Hoxa1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4537:Hoxa1 UTSW 6 52157993 missense probably benign 0.01
R6974:Hoxa1 UTSW 6 52158041 missense probably damaging 0.98
R7054:Hoxa1 UTSW 6 52158200 missense probably damaging 1.00
R7357:Hoxa1 UTSW 6 52156949 missense probably benign 0.08
R7494:Hoxa1 UTSW 6 52157591 missense probably damaging 1.00
Posted On2014-05-07