Incidental Mutation 'IGL03206:Hoxd10'
ID 413139
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hoxd10
Ensembl Gene ENSMUSG00000050368
Gene Name homeobox D10
Synonyms Hox-5.3, Hox-4.5
Accession Numbers
Essential gene? Probably essential (E-score: 0.772) question?
Stock # IGL03206
Quality Score
Status
Chromosome 2
Chromosomal Location 74522268-74525449 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 74522776 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 151 (Y151*)
Ref Sequence ENSEMBL: ENSMUSP00000062412 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061745]
AlphaFold P28359
Predicted Effect probably null
Transcript: ENSMUST00000061745
AA Change: Y151*
SMART Domains Protein: ENSMUSP00000062412
Gene: ENSMUSG00000050368
AA Change: Y151*

DomainStartEndE-ValueType
low complexity region 24 43 N/A INTRINSIC
HOX 266 328 3.3e-27 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126966
SMART Domains Protein: ENSMUSP00000133930
Gene: ENSMUSG00000086077

DomainStartEndE-ValueType
low complexity region 23 42 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136302
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152027
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190845
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 is a member of the Abd-B homeobox family and encodes a protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox D genes located on chromosome 2. The encoded nuclear protein functions as a sequence-specific transcription factor that is expressed in the developing limb buds and is involved in differentiation and limb development. Mutations in this gene have been associated with Wilm's tumor and congenital vertical talus (also known as "rocker-bottom foot" deformity or congenital convex pes valgus) and/or a foot deformity resembling that seen in Charcot-Marie-Tooth disease. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit an abnormal gait associated with defects in sacral vertebrae (including homeotic transformations), hindlimb bones, and muscle innervation. These defects are sometimes seen in heterozygotes as well. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T A 6: 128,530,239 (GRCm39) E939D possibly damaging Het
Aloxe3 C A 11: 69,020,472 (GRCm39) A172D possibly damaging Het
Bscl2 G A 19: 8,820,453 (GRCm39) R158Q probably damaging Het
Cdon A G 9: 35,414,602 (GRCm39) D1159G probably benign Het
Cep164 A G 9: 45,714,023 (GRCm39) V203A probably benign Het
Chml T C 1: 175,515,303 (GRCm39) D206G probably benign Het
E2f6 T C 12: 16,872,090 (GRCm39) probably benign Het
Emilin3 T A 2: 160,752,719 (GRCm39) Y77F probably damaging Het
Fbxw15 A T 9: 109,394,430 (GRCm39) N128K possibly damaging Het
Gjd2 A G 2: 113,842,204 (GRCm39) L91P probably damaging Het
Gm12830 T A 4: 114,702,314 (GRCm39) probably benign Het
Gpr161 T A 1: 165,149,218 (GRCm39) L529Q probably damaging Het
Iars1 A G 13: 49,846,546 (GRCm39) D215G possibly damaging Het
Ift140 T C 17: 25,311,800 (GRCm39) V1241A probably damaging Het
Kdm5b A G 1: 134,555,055 (GRCm39) N1321S probably benign Het
Lrat T A 3: 82,810,656 (GRCm39) I122F probably damaging Het
Myl10 C T 5: 136,726,796 (GRCm39) Q106* probably null Het
Ncapd2 A T 6: 125,148,660 (GRCm39) Y1018N possibly damaging Het
Ndrg1 C T 15: 66,814,936 (GRCm39) W172* probably null Het
Nphs2 T C 1: 156,153,701 (GRCm39) M264T probably damaging Het
Nrxn3 A T 12: 89,227,278 (GRCm39) R677S possibly damaging Het
Nudt12 T C 17: 59,314,667 (GRCm39) T306A probably benign Het
Numb A G 12: 83,872,070 (GRCm39) probably benign Het
Or10h28 T A 17: 33,487,725 (GRCm39) I9K possibly damaging Het
Or2y1 A T 11: 49,385,536 (GRCm39) M59L probably benign Het
Or5p58 C T 7: 107,694,261 (GRCm39) C172Y probably damaging Het
Pbld2 T A 10: 62,883,261 (GRCm39) D94E probably benign Het
Pkd1l3 C A 8: 110,350,345 (GRCm39) Q397K probably benign Het
Ppp4r3a A T 12: 101,024,878 (GRCm39) L207H probably damaging Het
Ranbp2 T A 10: 58,301,369 (GRCm39) I674N probably damaging Het
Retnlg G T 16: 48,694,655 (GRCm39) C101F probably damaging Het
Rif1 T A 2: 51,993,634 (GRCm39) I849N probably damaging Het
Serpinb9d T C 13: 33,382,014 (GRCm39) I161T possibly damaging Het
Slc17a6 T C 7: 51,315,771 (GRCm39) probably benign Het
Smg8 A C 11: 86,976,814 (GRCm39) probably null Het
Spata31d1c C A 13: 65,183,407 (GRCm39) N316K probably benign Het
Tlr1 A G 5: 65,082,400 (GRCm39) S726P probably damaging Het
Trim69 A C 2: 122,003,636 (GRCm39) D195A probably benign Het
Ttc16 T G 2: 32,661,897 (GRCm39) probably null Het
Usp53 T A 3: 122,746,832 (GRCm39) M405L probably benign Het
Ywhag G A 5: 135,939,914 (GRCm39) R227* probably null Het
Zfp335 G T 2: 164,734,601 (GRCm39) probably benign Het
Zfp607a T C 7: 27,577,248 (GRCm39) I106T possibly damaging Het
Zfp959 T C 17: 56,204,613 (GRCm39) S214P possibly damaging Het
Zfyve9 T C 4: 108,546,406 (GRCm39) M868V possibly damaging Het
Other mutations in Hoxd10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00799:Hoxd10 APN 2 74,522,786 (GRCm39) missense probably benign 0.06
hockey UTSW 2 74,524,507 (GRCm39) missense probably damaging 1.00
R0375:Hoxd10 UTSW 2 74,523,064 (GRCm39) missense probably benign 0.03
R3004:Hoxd10 UTSW 2 74,522,706 (GRCm39) missense probably benign
R3419:Hoxd10 UTSW 2 74,522,921 (GRCm39) missense probably benign 0.00
R3717:Hoxd10 UTSW 2 74,524,474 (GRCm39) missense probably damaging 0.96
R4627:Hoxd10 UTSW 2 74,522,636 (GRCm39) missense probably benign
R4697:Hoxd10 UTSW 2 74,524,531 (GRCm39) nonsense probably null
R5875:Hoxd10 UTSW 2 74,522,426 (GRCm39) missense possibly damaging 0.95
R6378:Hoxd10 UTSW 2 74,524,678 (GRCm39) missense possibly damaging 0.93
R6597:Hoxd10 UTSW 2 74,522,984 (GRCm39) missense probably benign 0.00
R6711:Hoxd10 UTSW 2 74,524,507 (GRCm39) missense probably damaging 1.00
R6841:Hoxd10 UTSW 2 74,522,616 (GRCm39) missense probably benign 0.13
R8503:Hoxd10 UTSW 2 74,522,724 (GRCm39) missense probably benign 0.06
R9229:Hoxd10 UTSW 2 74,524,600 (GRCm39) missense possibly damaging 0.90
R9342:Hoxd10 UTSW 2 74,522,982 (GRCm39) missense probably benign 0.00
Posted On 2016-08-02