Incidental Mutation 'IGL01399:Hoxa4'
ID 79578
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hoxa4
Ensembl Gene ENSMUSG00000000942
Gene Name homeobox A4
Synonyms Hox-1.4
Accession Numbers
Essential gene? Possibly essential (E-score: 0.529) question?
Stock # IGL01399
Quality Score
Status
Chromosome 6
Chromosomal Location 52166662-52168683 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 52167393 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 263 (Q263K)
Ref Sequence ENSEMBL: ENSMUSP00000098943 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101395] [ENSMUST00000114434] [ENSMUST00000128102]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000101395
AA Change: Q263K

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000098943
Gene: ENSMUSG00000000942
AA Change: Q263K

DomainStartEndE-ValueType
low complexity region 14 23 N/A INTRINSIC
low complexity region 25 45 N/A INTRINSIC
low complexity region 48 95 N/A INTRINSIC
low complexity region 101 126 N/A INTRINSIC
HOX 180 242 1.52e-26 SMART
low complexity region 265 275 N/A INTRINSIC
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: ENSMUST00000136806
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139055
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191326
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191453
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. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene leads to homeotic transformation of cervical vertebrae. Mice homozygous for a knock-out allele also exhibit a hunched appearance of the pectoral girdle. Mice homozygous for a different knock-out allele show additionalsternal defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apol11b G A 15: 77,522,219 (GRCm39) T26M probably damaging Het
Asic4 T A 1: 75,445,790 (GRCm39) N206K possibly damaging Het
Bsn A G 9: 107,984,386 (GRCm39) Y3223H unknown Het
Btaf1 C T 19: 36,977,570 (GRCm39) R1463* probably null Het
Ccdc146 A G 5: 21,499,611 (GRCm39) I857T possibly damaging Het
Ccnf G A 17: 24,443,986 (GRCm39) S594L probably damaging Het
Chd5 T C 4: 152,441,144 (GRCm39) W195R probably damaging Het
Cntn1 A G 15: 92,203,025 (GRCm39) Y769C probably damaging Het
Cwc22 T C 2: 77,747,408 (GRCm39) E435G probably benign Het
Dct A G 14: 118,273,890 (GRCm39) F339S probably damaging Het
Ddx54 G T 5: 120,761,968 (GRCm39) E554* probably null Het
Dock3 G T 9: 106,870,670 (GRCm39) S581R probably benign Het
Dst A G 1: 34,156,598 (GRCm39) H176R probably benign Het
Emc8 A G 8: 121,385,745 (GRCm39) M123T probably damaging Het
Evc T A 5: 37,490,357 (GRCm39) D55V probably damaging Het
Gm5424 A G 10: 61,907,272 (GRCm39) noncoding transcript Het
Gpr149 A T 3: 62,511,852 (GRCm39) L49Q probably damaging Het
Hcfc1 C T X: 72,993,515 (GRCm39) V1217I possibly damaging Het
Ift172 T C 5: 31,423,592 (GRCm39) E790G probably benign Het
Ipp A G 4: 116,372,384 (GRCm39) N138D probably damaging Het
Isg20 A T 7: 78,569,836 (GRCm39) T158S possibly damaging Het
Klf17 A G 4: 117,616,356 (GRCm39) F325S probably damaging Het
Lilrb4a T C 10: 51,370,161 (GRCm39) L233P probably benign Het
Malrd1 G A 2: 16,106,768 (GRCm39) probably null Het
Myh9 A T 15: 77,651,470 (GRCm39) L1544Q probably damaging Het
Nexmif T A X: 103,130,786 (GRCm39) D377V probably damaging Het
Nobox T C 6: 43,280,972 (GRCm39) T501A probably benign Het
Noc3l T C 19: 38,804,099 (GRCm39) D93G possibly damaging Het
Nrcam G T 12: 44,622,667 (GRCm39) A938S probably benign Het
Nup205 T C 6: 35,196,624 (GRCm39) I1120T possibly damaging Het
Or5b96 A T 19: 12,867,803 (GRCm39) M46K probably benign Het
Or5h18 C T 16: 58,847,629 (GRCm39) V214I probably benign Het
Ptpn3 T C 4: 57,225,775 (GRCm39) D480G probably benign Het
Selenof C T 3: 144,302,669 (GRCm39) T148I probably damaging Het
Sgce C A 6: 4,746,997 (GRCm39) G31V probably damaging Het
Slc35e1 C A 8: 73,238,534 (GRCm39) A325S probably damaging Het
Slc4a4 A G 5: 89,376,794 (GRCm39) D1016G probably damaging Het
Synj2 T G 17: 6,060,046 (GRCm39) C149W probably damaging Het
Tecpr1 A G 5: 144,145,411 (GRCm39) probably null Het
Utp20 A G 10: 88,594,164 (GRCm39) probably null Het
Vmn2r63 T A 7: 42,553,543 (GRCm39) K571M probably damaging Het
Wdr53 A G 16: 32,070,718 (GRCm39) D21G possibly damaging Het
Zbtb3 T C 19: 8,780,819 (GRCm39) L144S probably damaging Het
Zfp185 T A X: 72,043,654 (GRCm39) S154T probably damaging Het
Other mutations in Hoxa4
AlleleSourceChrCoordTypePredicted EffectPPH Score
BB009:Hoxa4 UTSW 6 52,167,397 (GRCm39) missense probably damaging 1.00
BB019:Hoxa4 UTSW 6 52,167,397 (GRCm39) missense probably damaging 1.00
PIT1430001:Hoxa4 UTSW 6 52,168,199 (GRCm39) missense possibly damaging 0.47
R3983:Hoxa4 UTSW 6 52,167,657 (GRCm39) missense probably benign 0.19
R7087:Hoxa4 UTSW 6 52,168,271 (GRCm39) missense probably damaging 0.99
R7592:Hoxa4 UTSW 6 52,168,520 (GRCm39) missense unknown
R7932:Hoxa4 UTSW 6 52,167,397 (GRCm39) missense probably damaging 1.00
R7971:Hoxa4 UTSW 6 52,168,711 (GRCm39) intron probably benign
R8134:Hoxa4 UTSW 6 52,167,537 (GRCm39) missense possibly damaging 0.66
Z1177:Hoxa4 UTSW 6 52,168,616 (GRCm39) missense unknown
Posted On 2013-11-05