Incidental Mutation 'IGL03017:Hoxd3'
ID407938
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hoxd3
Ensembl Gene ENSMUSG00000079277
Gene Namehomeobox D3
SynonymsHox-4.1, Hox-5.5
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.812) question?
Stock #IGL03017
Quality Score
Status
Chromosome2
Chromosomal Location74711927-74748442 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 74746706 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 310 (M310K)
Ref Sequence ENSEMBL: ENSMUSP00000107614 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047830] [ENSMUST00000053932] [ENSMUST00000111982] [ENSMUST00000111983] [ENSMUST00000140666] [ENSMUST00000144544]
Predicted Effect possibly damaging
Transcript: ENSMUST00000047830
AA Change: M310K

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000044809
Gene: ENSMUSG00000079277
AA Change: M310K

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 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: ENSMUST00000100000
Predicted Effect possibly damaging
Transcript: ENSMUST00000111982
AA Change: M310K

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000107613
Gene: ENSMUSG00000079277
AA Change: M310K

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 possibly damaging
Transcript: ENSMUST00000111983
AA Change: M310K

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000107614
Gene: ENSMUSG00000079277
AA Change: M310K

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 probably benign
Transcript: ENSMUST00000140666
SMART Domains Protein: ENSMUSP00000134616
Gene: ENSMUSG00000079277

DomainStartEndE-ValueType
HOX 35 97 5.83e-28 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000144544
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152462
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190553
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229136
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230341
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230511
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230540
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230704
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 the regulation of cell adhesion processes. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele show partial postnatal lethality, asymmetric rib-sternum attachment, and anterior transformations of the cervical vertebrae I (atlas) and II (axis). Mice homozygous for a different knock-out allele lack the anteriorarch of the atlas and the dens of the axis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef11 C A 3: 87,717,060 Y519* probably null Het
Arhgef26 T A 3: 62,448,281 M758K possibly damaging Het
Ccdc187 T C 2: 26,280,966 Y500C probably benign Het
Cul5 A T 9: 53,644,485 probably null Het
Dnah5 A C 15: 28,340,325 I2293L possibly damaging Het
Emilin3 G A 2: 160,908,729 Q320* probably null Het
Gpr45 C T 1: 43,032,356 T53M possibly damaging Het
Mtr A G 13: 12,247,891 probably null Het
Mup4 T A 4: 59,957,890 N171I probably damaging Het
Myo15b T A 11: 115,887,917 I1157N possibly damaging Het
Myo1d C T 11: 80,601,626 V768I probably benign Het
Nlrp4c T C 7: 6,084,680 C771R probably benign Het
Olfr390 C A 11: 73,787,518 H193Q probably benign Het
Patj G A 4: 98,465,027 probably benign Het
Pkp3 C A 7: 141,083,370 A376D probably benign Het
Pkp4 T C 2: 59,266,425 V57A probably benign Het
Poteg A T 8: 27,462,041 K232N probably benign Het
Psat1 G T 19: 15,917,135 A168E possibly damaging Het
Rassf8 T A 6: 145,817,198 probably null Het
Slc37a3 T A 6: 39,349,381 I281L probably benign Het
Sncaip A T 18: 52,894,937 H466L possibly damaging Het
Ttn T C 2: 76,787,116 E16337G probably damaging Het
Ttn T C 2: 76,868,302 T30A possibly damaging Het
Usp13 G A 3: 32,915,712 M662I possibly damaging Het
Vmn2r111 A T 17: 22,570,858 M389K probably damaging Het
Vmn2r39 A C 7: 9,014,941 Y799D probably damaging Het
Other mutations in Hoxd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02636:Hoxd3 APN 2 74746954 missense probably benign 0.32
candide UTSW 2 74744076 missense probably damaging 1.00
compressed UTSW 2 74744306 nonsense probably null
R1977:Hoxd3 UTSW 2 74744276 missense possibly damaging 0.94
R2079:Hoxd3 UTSW 2 74744266 missense probably damaging 0.97
R2124:Hoxd3 UTSW 2 74744234 missense possibly damaging 0.92
R5143:Hoxd3 UTSW 2 74746372 missense probably damaging 1.00
R5250:Hoxd3 UTSW 2 74744306 nonsense probably null
R5256:Hoxd3 UTSW 2 74746867 missense possibly damaging 0.88
R5943:Hoxd3 UTSW 2 74746829 missense probably benign 0.00
R6300:Hoxd3 UTSW 2 74744076 missense probably damaging 1.00
R7362:Hoxd3 UTSW 2 74744219 missense possibly damaging 0.59
Posted On2016-08-02