Incidental Mutation 'IGL00931:Hoxa7'
ID 27634
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hoxa7
Ensembl Gene ENSMUSG00000038236
Gene Name homeobox A7
Synonyms Hox-1.1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00931
Quality Score
Status
Chromosome 6
Chromosomal Location 52191471-52198757 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 52194286 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 34 (N34D)
Ref Sequence ENSEMBL: ENSMUSP00000138790 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048715] [ENSMUST00000114434] [ENSMUST00000128102] [ENSMUST00000134367] [ENSMUST00000140316] [ENSMUST00000153280] [ENSMUST00000150041]
AlphaFold P02830
Predicted Effect probably benign
Transcript: ENSMUST00000048715
AA Change: N34D

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000048648
Gene: ENSMUSG00000038236
AA Change: N34D

DomainStartEndE-ValueType
HOX 129 191 1.72e-25 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000114434
SMART Domains Protein: ENSMUSP00000110077
Gene: ENSMUSG00000079560

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 noncoding transcript
Transcript: ENSMUST00000131502
Predicted Effect probably benign
Transcript: ENSMUST00000134367
SMART Domains Protein: ENSMUSP00000134610
Gene: ENSMUSG00000038236

DomainStartEndE-ValueType
HOX 8 70 1.72e-25 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136806
Predicted Effect possibly damaging
Transcript: ENSMUST00000140316
AA Change: N34D

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000138790
Gene: ENSMUSG00000038236
AA Change: N34D

DomainStartEndE-ValueType
low complexity region 132 158 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000153280
SMART Domains Protein: ENSMUSP00000134641
Gene: ENSMUSG00000038236

DomainStartEndE-ValueType
HOX 8 70 1.72e-25 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000150041
SMART Domains Protein: ENSMUSP00000140519
Gene: ENSMUSG00000038236

DomainStartEndE-ValueType
low complexity region 19 34 N/A INTRINSIC
low complexity region 43 56 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142764
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. For example, the encoded protein represses the transcription of differentiation-specific genes during keratinocyte proliferation, but this repression is then overcome by differentiation signals. This gene is highly similar to the antennapedia (Antp) gene of Drosophila. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and grossly normal with no apparent skeletal defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1a2 G A 9: 71,123,251 (GRCm39) probably benign Het
Col24a1 A G 3: 145,167,225 (GRCm39) M1101V probably benign Het
Cyp4a12a G A 4: 115,159,153 (GRCm39) R141Q possibly damaging Het
Ddx60 C T 8: 62,422,617 (GRCm39) S618L probably benign Het
Dnmt3b T A 2: 153,528,170 (GRCm39) probably benign Het
Dzip3 A T 16: 48,755,860 (GRCm39) probably null Het
Fads2 A T 19: 10,043,649 (GRCm39) D348E probably benign Het
Gpcpd1 G T 2: 132,380,038 (GRCm39) F434L probably benign Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Ifitm1 A T 7: 140,548,169 (GRCm39) M1L probably damaging Het
Lama2 G A 10: 26,882,772 (GRCm39) S605L possibly damaging Het
Myh7b A G 2: 155,472,212 (GRCm39) D1261G probably damaging Het
Ndufs3 A G 2: 90,732,846 (GRCm39) probably null Het
Nedd4l T C 18: 65,305,470 (GRCm39) I297T possibly damaging Het
Nfe2l2 A G 2: 75,506,342 (GRCm39) V586A probably damaging Het
Slc1a2 T A 2: 102,586,457 (GRCm39) W354R probably damaging Het
Slc35c1 T C 2: 92,289,239 (GRCm39) D89G probably benign Het
Tcaf3 T C 6: 42,574,162 (GRCm39) T17A probably benign Het
Vmn2r72 T A 7: 85,398,854 (GRCm39) M500L probably benign Het
Other mutations in Hoxa7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02179:Hoxa7 APN 6 52,192,854 (GRCm39) missense probably damaging 1.00
R0022:Hoxa7 UTSW 6 52,194,363 (GRCm39) missense probably damaging 0.98
R0022:Hoxa7 UTSW 6 52,194,363 (GRCm39) missense probably damaging 0.98
R1830:Hoxa7 UTSW 6 52,194,307 (GRCm39) missense possibly damaging 0.94
R3944:Hoxa7 UTSW 6 52,193,606 (GRCm39) intron probably benign
R4211:Hoxa7 UTSW 6 52,193,605 (GRCm39) nonsense probably null
R4880:Hoxa7 UTSW 6 52,194,014 (GRCm39) utr 3 prime probably benign
R5810:Hoxa7 UTSW 6 52,193,004 (GRCm39) missense probably benign 0.02
R6009:Hoxa7 UTSW 6 52,194,367 (GRCm39) missense probably damaging 1.00
R6481:Hoxa7 UTSW 6 52,193,594 (GRCm39) intron probably benign
R6532:Hoxa7 UTSW 6 52,194,295 (GRCm39) missense probably benign 0.05
R6724:Hoxa7 UTSW 6 52,192,719 (GRCm39) missense probably benign
R7133:Hoxa7 UTSW 6 52,192,720 (GRCm39) missense probably benign 0.01
R7400:Hoxa7 UTSW 6 52,194,033 (GRCm39) missense possibly damaging 0.54
R7646:Hoxa7 UTSW 6 52,192,699 (GRCm39) makesense probably null
R7797:Hoxa7 UTSW 6 52,192,870 (GRCm39) missense probably damaging 1.00
R8428:Hoxa7 UTSW 6 52,194,993 (GRCm39) missense unknown
Posted On 2013-04-17