Incidental Mutation 'IGL02034:Hoxd4'
ID 184455
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hoxd4
Ensembl Gene ENSMUSG00000101174
Gene Name homeobox D4
Synonyms Hox-5.1, Hox-4.2
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.452) question?
Stock # IGL02034
Quality Score
Status
Chromosome 2
Chromosomal Location 74552322-74559504 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 74558750 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 191 (L191Q)
Ref Sequence ENSEMBL: ENSMUSP00000107611 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047904] [ENSMUST00000053932] [ENSMUST00000111980] [ENSMUST00000111983] [ENSMUST00000144544]
AlphaFold P10628
Predicted Effect probably damaging
Transcript: ENSMUST00000047904
AA Change: L191Q

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000047949
Gene: ENSMUSG00000115956
AA Change: L191Q

DomainStartEndE-ValueType
low complexity region 63 70 N/A INTRINSIC
low complexity region 91 110 N/A INTRINSIC
low complexity region 112 123 N/A INTRINSIC
HOX 152 214 2.46e-26 SMART
low complexity region 220 229 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000053932
SMART Domains Protein: ENSMUSP00000051355
Gene: ENSMUSG00000100642

DomainStartEndE-ValueType
low complexity region 93 135 N/A INTRINSIC
low complexity region 141 159 N/A INTRINSIC
HOX 195 257 5.83e-28 SMART
Pfam:DUF4074 370 431 1.4e-33 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083566
Predicted Effect probably damaging
Transcript: ENSMUST00000111980
AA Change: L191Q

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000107611
Gene: ENSMUSG00000101174
AA Change: L191Q

DomainStartEndE-ValueType
low complexity region 63 70 N/A INTRINSIC
low complexity region 91 110 N/A INTRINSIC
low complexity region 112 123 N/A INTRINSIC
HOX 152 214 2.46e-26 SMART
low complexity region 220 229 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111983
SMART Domains Protein: ENSMUSP00000107614
Gene: ENSMUSG00000079277

DomainStartEndE-ValueType
low complexity region 93 135 N/A INTRINSIC
low complexity region 141 159 N/A INTRINSIC
HOX 195 257 5.83e-28 SMART
Pfam:DUF4074 369 431 8.9e-35 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144040
Predicted Effect probably benign
Transcript: ENSMUST00000144544
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located at 2q31-2q37 chromosome regions. Deletions that removed the entire HOXD gene cluster or 5' end of this cluster have been associated with severe limb and genital abnormalities. The protein encoded by this gene may play a role in determining positional values in developing limb buds. Alternatively spliced variants have been described but their full length nature has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Both homozygotes and heterozygotes for a targeted null mutation exhibit homeotic transformations of the second cervical vertebrae and malformed neural arches of C1 to C3 and of the basioccipital bone. Mutants show variable penetrance and expressivity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bcor A G X: 11,905,498 (GRCm39) S1556P possibly damaging Het
Brd10 A G 19: 29,694,259 (GRCm39) S1745P possibly damaging Het
Ccdc6 T A 10: 70,004,978 (GRCm39) I241N probably benign Het
Cd81 T C 7: 142,619,986 (GRCm39) I48T probably damaging Het
Cfap52 A G 11: 67,837,118 (GRCm39) probably null Het
Cfap54 T C 10: 92,897,347 (GRCm39) M264V probably damaging Het
Cmya5 G A 13: 93,221,043 (GRCm39) probably benign Het
Csn2 A G 5: 87,843,941 (GRCm39) probably benign Het
Cyfip1 G A 7: 55,548,101 (GRCm39) R567Q probably damaging Het
Ehbp1 A G 11: 22,235,486 (GRCm39) probably null Het
Ermp1 G A 19: 29,623,359 (GRCm39) probably benign Het
Erv3 C T 2: 131,697,934 (GRCm39) V142I possibly damaging Het
Fzd2 A G 11: 102,495,730 (GRCm39) N58S probably damaging Het
Gcm2 G A 13: 41,259,269 (GRCm39) R67C probably damaging Het
Gm17019 A G 5: 15,080,266 (GRCm39) I182T possibly damaging Het
Gpr45 T C 1: 43,072,478 (GRCm39) *374Q probably null Het
Haus8 T C 8: 71,708,202 (GRCm39) N165S probably damaging Het
I830077J02Rik A G 3: 105,834,565 (GRCm39) probably benign Het
Lpl T C 8: 69,333,424 (GRCm39) L7P possibly damaging Het
Lrp1b T A 2: 41,158,382 (GRCm39) K1612* probably null Het
Myh14 G T 7: 44,265,717 (GRCm39) A1546D possibly damaging Het
Nbea A G 3: 55,875,577 (GRCm39) S1698P probably damaging Het
Or10p22 A T 10: 128,826,570 (GRCm39) Q263L probably benign Het
Or4c112 C T 2: 88,854,015 (GRCm39) V111M probably benign Het
Or52e7 C A 7: 104,684,597 (GRCm39) T64N probably benign Het
Or5p51 G A 7: 107,444,385 (GRCm39) T185I probably benign Het
Otog A T 7: 45,945,417 (GRCm39) K40* probably null Het
Rgma C A 7: 73,067,181 (GRCm39) H145Q probably damaging Het
Rpgrip1l A T 8: 91,977,776 (GRCm39) probably null Het
Ssxb2 T A X: 8,324,743 (GRCm39) probably benign Het
Tmem175 C T 5: 108,790,002 (GRCm39) T118I probably damaging Het
Wdhd1 A G 14: 47,498,808 (GRCm39) V542A probably benign Het
Zfp977 G A 7: 42,230,136 (GRCm39) P130S probably damaging Het
Other mutations in Hoxd4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03403:Hoxd4 APN 2 74,558,681 (GRCm39) missense possibly damaging 0.93
R0153:Hoxd4 UTSW 2 74,557,801 (GRCm39) missense probably damaging 0.96
R3424:Hoxd4 UTSW 2 74,557,657 (GRCm39) missense probably damaging 1.00
R5447:Hoxd4 UTSW 2 74,557,687 (GRCm39) missense probably damaging 1.00
R5715:Hoxd4 UTSW 2 74,557,708 (GRCm39) missense probably damaging 1.00
R6197:Hoxd4 UTSW 2 74,558,807 (GRCm39) missense possibly damaging 0.85
R6264:Hoxd4 UTSW 2 74,557,729 (GRCm39) missense possibly damaging 0.53
R6310:Hoxd4 UTSW 2 74,558,734 (GRCm39) missense possibly damaging 0.84
R6336:Hoxd4 UTSW 2 74,557,705 (GRCm39) missense probably damaging 1.00
R6921:Hoxd4 UTSW 2 74,558,836 (GRCm39) missense possibly damaging 0.73
R9246:Hoxd4 UTSW 2 74,558,747 (GRCm39) missense possibly damaging 0.86
Posted On 2014-05-07