Incidental Mutation 'R3004:Hoxd10'
ID 257385
Institutional Source Beutler Lab
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 # R3004 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 74522268-74525449 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 74522706 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 128 (V128D)
Ref Sequence ENSEMBL: ENSMUSP00000062412 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061745]
AlphaFold P28359
Predicted Effect probably benign
Transcript: ENSMUST00000061745
AA Change: V128D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000062412
Gene: ENSMUSG00000050368
AA Change: V128D

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk3 G A 7: 80,753,103 (GRCm39) W1553* probably null Het
Art2a T C 7: 101,203,972 (GRCm39) I189V probably benign Het
BC049715 A G 6: 136,816,790 (GRCm39) E10G possibly damaging Het
Ccdc158 A G 5: 92,796,929 (GRCm39) L469P probably damaging Het
Cspg4b T C 13: 113,502,688 (GRCm39) F131S probably damaging Het
Ctsm T C 13: 61,687,682 (GRCm39) I59V possibly damaging Het
Daam2 A G 17: 49,767,682 (GRCm39) F970L probably damaging Het
Gm21903 A T 17: 39,353,547 (GRCm39) probably benign Het
Gpr158 T A 2: 21,831,810 (GRCm39) M970K probably damaging Het
H2bc7 G A 13: 23,758,355 (GRCm39) probably benign Het
Ighv5-9 T C 12: 113,625,567 (GRCm39) T59A probably benign Het
Nlrp4c G A 7: 6,068,524 (GRCm39) V142M probably benign Het
Npc1 A G 18: 12,330,311 (GRCm39) F947L probably benign Het
Or1ak2 T A 2: 36,827,221 (GRCm39) I30N possibly damaging Het
Or56b1b G T 7: 108,164,151 (GRCm39) H284N probably benign Het
Piezo2 G T 18: 63,157,506 (GRCm39) Y223* probably null Het
Rhog A T 7: 101,889,345 (GRCm39) V36E probably damaging Het
Sbno1 G A 5: 124,519,771 (GRCm39) T1168I probably damaging Het
Sin3a T A 9: 57,004,118 (GRCm39) L290* probably null Het
Slco1c1 G T 6: 141,478,380 (GRCm39) A48S probably damaging Het
Slfn9 A T 11: 82,872,590 (GRCm39) S715R possibly damaging Het
Sox17 T C 1: 4,562,840 (GRCm39) E120G probably damaging Het
Other mutations in Hoxd10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00799:Hoxd10 APN 2 74,522,786 (GRCm39) missense probably benign 0.06
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
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
Predicted Primers PCR Primer
(F):5'- GAATGCAAACCTGTGGACTGC -3'
(R):5'- TTTTCCATCTGCAGCTGGGC -3'

Sequencing Primer
(F):5'- GCTCCCGTCTTTGGCCAAAAG -3'
(R):5'- TTGAGCTGGAGCATGACA -3'
Posted On 2015-01-11