Incidental Mutation 'IGL00799:Hoxd10'
ID 11322
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 # IGL00799
Quality Score
Status
Chromosome 2
Chromosomal Location 74522268-74525449 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 74522786 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 155 (S155G)
Ref Sequence ENSEMBL: ENSMUSP00000062412 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061745]
AlphaFold P28359
Predicted Effect probably benign
Transcript: ENSMUST00000061745
AA Change: S155G

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000062412
Gene: ENSMUSG00000050368
AA Change: S155G

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: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm2 A T 4: 144,281,843 (GRCm39) H316Q probably benign Het
Boc G T 16: 44,313,318 (GRCm39) D515E probably benign Het
Cenpe T A 3: 134,934,678 (GRCm39) probably null Het
Ctcf A G 8: 106,403,968 (GRCm39) D608G unknown Het
Dab2ip A G 2: 35,597,787 (GRCm39) I99V probably benign Het
Ecpas T A 4: 58,828,047 (GRCm39) I981F possibly damaging Het
Ehd2 C T 7: 15,697,392 (GRCm39) A139T possibly damaging Het
Fam151b C A 13: 92,614,361 (GRCm39) K42N probably damaging Het
Gapvd1 A T 2: 34,589,872 (GRCm39) D1002E probably benign Het
Gusb T C 5: 130,028,222 (GRCm39) Y290C probably damaging Het
Hp A G 8: 110,302,250 (GRCm39) probably null Het
Ift122 T C 6: 115,854,497 (GRCm39) S112P probably damaging Het
Iqgap2 A G 13: 95,794,452 (GRCm39) probably benign Het
Mtbp T A 15: 55,480,904 (GRCm39) L290* probably null Het
Nr5a2 T A 1: 136,818,536 (GRCm39) D330V probably damaging Het
R3hdm1 T A 1: 128,102,700 (GRCm39) L157Q probably damaging Het
Rad21 A T 15: 51,839,521 (GRCm39) D116E possibly damaging Het
Slc23a3 A T 1: 75,109,925 (GRCm39) I114N possibly damaging Het
Syne1 A G 10: 5,347,878 (GRCm38) I1140L probably benign Het
Other mutations in Hoxd10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03206:Hoxd10 APN 2 74,522,776 (GRCm39) nonsense probably null
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 2012-12-06