Incidental Mutation 'R3419:Hoxd10'
ID 266945
Institutional Source Beutler Lab
Gene Symbol Hoxd10
Ensembl Gene ENSMUSG00000050368
Gene Name homeobox D10
Synonyms Hox-5.3, Hox-4.5
MMRRC Submission 040637-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.683) question?
Stock # R3419 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 74522268-74525449 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 74522921 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 200 (K200E)
Ref Sequence ENSEMBL: ENSMUSP00000062412 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061745]
AlphaFold P28359
Predicted Effect probably benign
Transcript: ENSMUST00000061745
AA Change: K200E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000062412
Gene: ENSMUSG00000050368
AA Change: K200E

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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5530400C23Rik A G 6: 133,271,082 (GRCm39) Q42R probably benign Het
Ankrd26 A G 6: 118,512,068 (GRCm39) L518P probably damaging Het
Armc9 T C 1: 86,122,060 (GRCm39) L395P probably damaging Het
Baz1a T C 12: 54,993,684 (GRCm39) K181E probably benign Het
Bend3 T C 10: 43,385,978 (GRCm39) S124P probably damaging Het
Cdh5 C T 8: 104,856,002 (GRCm39) R312C probably damaging Het
Col6a3 T C 1: 90,731,813 (GRCm39) D873G probably benign Het
Dmbx1 G C 4: 115,777,873 (GRCm39) R64G probably benign Het
Dpy19l2 T C 9: 24,492,501 (GRCm39) E699G probably damaging Het
Dync2i1 C T 12: 116,188,597 (GRCm39) V666I probably benign Het
Eef2k T A 7: 120,485,093 (GRCm39) M320K probably damaging Het
Exoc5 A T 14: 49,260,735 (GRCm39) N377K probably damaging Het
Fam20c A T 5: 138,743,623 (GRCm39) N220Y probably damaging Het
Fchsd2 T A 7: 100,927,867 (GRCm39) probably null Het
Flrt2 A G 12: 95,747,378 (GRCm39) Y572C probably damaging Het
Gm17093 A G 14: 44,759,047 (GRCm39) I190V unknown Het
Gsto1 T C 19: 47,846,344 (GRCm39) F64L probably benign Het
Gucy1a1 A G 3: 82,013,440 (GRCm39) S401P probably damaging Het
Kcnj13 T C 1: 87,314,641 (GRCm39) T194A probably benign Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lacc1 T G 14: 77,272,321 (GRCm39) E158D probably benign Het
Lyn A T 4: 3,746,833 (GRCm39) I204F probably damaging Het
Mapk6 T C 9: 75,305,039 (GRCm39) E126G probably damaging Het
Mbd6 C G 10: 127,122,372 (GRCm39) R152P probably null Het
Or2h1b A T 17: 37,462,242 (GRCm39) V53E probably damaging Het
Or52e15 A G 7: 104,645,727 (GRCm39) I128T probably damaging Het
Or8g17 C T 9: 38,930,372 (GRCm39) C155Y probably benign Het
P2ry1 T C 3: 60,911,133 (GRCm39) F91L probably damaging Het
Paqr3 A G 5: 97,247,559 (GRCm39) L183P probably damaging Het
Pcdh15 C A 10: 74,420,054 (GRCm39) D1166E probably benign Het
Pik3r1 T C 13: 101,828,723 (GRCm39) D25G probably benign Het
Poc5 A T 13: 96,540,925 (GRCm39) T365S possibly damaging Het
Polr3a A G 14: 24,517,103 (GRCm39) L716P probably damaging Het
Ppp1r3a A T 6: 14,719,413 (GRCm39) D500E probably benign Het
Ptcd3 A T 6: 71,860,470 (GRCm39) I579K possibly damaging Het
Rnf168 A G 16: 32,118,010 (GRCm39) N524D probably benign Het
Scn7a AT ATT 2: 66,531,239 (GRCm39) probably null Het
Sel1l A G 12: 91,776,776 (GRCm39) W689R probably damaging Het
Serpinb13 T C 1: 106,926,657 (GRCm39) S218P probably damaging Het
Serpini1 A G 3: 75,547,589 (GRCm39) Y367C probably damaging Het
Snrnp48 G A 13: 38,405,335 (GRCm39) D248N possibly damaging Het
St6galnac4 A G 2: 32,485,743 (GRCm39) T217A probably damaging Het
Tdrd1 T A 19: 56,819,663 (GRCm39) N54K possibly damaging Het
Tmem30c A G 16: 57,098,031 (GRCm39) V130A probably benign Het
Trpa1 T C 1: 14,944,605 (GRCm39) I1046M probably benign Het
Tulp2 T A 7: 45,168,176 (GRCm39) M196K possibly damaging Het
Unc5b G A 10: 60,614,593 (GRCm39) R235W probably damaging Het
Vmn1r175 A T 7: 23,508,075 (GRCm39) M184K probably damaging Het
Vmn2r2 A T 3: 64,024,320 (GRCm39) F754I probably benign Het
Vmn2r9 A C 5: 108,994,299 (GRCm39) M450R 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
R3004:Hoxd10 UTSW 2 74,522,706 (GRCm39) missense probably benign
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'- ACTCATTTCTGCCGAGGTCC -3'
(R):5'- GCAACTCTGTTCATACCGACC -3'

Sequencing Primer
(F):5'- TTGTCCTGTTGAGAACCCCGAG -3'
(R):5'- AACTCTGTTCATACCGACCTTTGC -3'
Posted On 2015-02-18