Incidental Mutation 'R6378:Hoxd10'
ID 515097
Institutional Source Beutler Lab
Gene Symbol Hoxd10
Ensembl Gene ENSMUSG00000050368
Gene Name homeobox D10
Synonyms Hox-5.3, Hox-4.5
MMRRC Submission 044528-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.683) question?
Stock # R6378 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 74522268-74525449 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 74524678 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 330 (I330T)
Ref Sequence ENSEMBL: ENSMUSP00000062412 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059272] [ENSMUST00000061745]
AlphaFold P28359
Predicted Effect probably benign
Transcript: ENSMUST00000059272
SMART Domains Protein: ENSMUSP00000058490
Gene: ENSMUSG00000043342

DomainStartEndE-ValueType
Pfam:Hox9_act 1 126 2e-47 PFAM
low complexity region 155 176 N/A INTRINSIC
low complexity region 208 225 N/A INTRINSIC
low complexity region 248 256 N/A INTRINSIC
HOX 272 334 6.25e-28 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000061745
AA Change: I330T

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000062412
Gene: ENSMUSG00000050368
AA Change: I330T

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.8%
Validation Efficiency 99% (80/81)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago2 A T 15: 72,995,774 (GRCm39) D408E probably benign Het
Agpat2 T C 2: 26,486,147 (GRCm39) N178S probably benign Het
Arsi T C 18: 61,049,573 (GRCm39) F152S probably damaging Het
Atp13a2 T A 4: 140,734,367 (GRCm39) L1163Q probably benign Het
Bpifb2 T A 2: 153,733,072 (GRCm39) L385Q possibly damaging Het
C330018D20Rik A G 18: 57,095,579 (GRCm39) L2P probably damaging Het
Cby3 A G 11: 50,250,360 (GRCm39) T189A probably damaging Het
Cdc42bpa A T 1: 179,921,561 (GRCm39) D567V possibly damaging Het
Cdh5 T A 8: 104,853,168 (GRCm39) probably null Het
Cela1 C T 15: 100,585,071 (GRCm39) V20I probably benign Het
Cmpk2 G A 12: 26,519,415 (GRCm39) G22E possibly damaging Het
Ctcf T A 8: 106,390,423 (GRCm39) V10E possibly damaging Het
Dpp10 C A 1: 123,339,468 (GRCm39) C353F probably damaging Het
Efcab3 A G 11: 104,999,620 (GRCm39) S5546G possibly damaging Het
Elp3 G T 14: 65,830,420 (GRCm39) Y10* probably null Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Eml4 T A 17: 83,755,646 (GRCm39) W336R probably damaging Het
Erich6 T C 3: 58,529,780 (GRCm39) probably null Het
Eya1 T C 1: 14,373,027 (GRCm39) N31D possibly damaging Het
Fam81a T A 9: 70,017,628 (GRCm39) N106Y probably damaging Het
Frrs1 A G 3: 116,694,639 (GRCm39) T487A possibly damaging Het
Ganc T C 2: 120,264,307 (GRCm39) M420T probably damaging Het
Gimap7 A T 6: 48,701,116 (GRCm39) E234V probably damaging Het
Gpbp1 T C 13: 111,570,146 (GRCm39) N400S probably damaging Het
Gucy2g T C 19: 55,229,377 (GRCm39) S98G probably benign Het
Ik T A 18: 36,890,341 (GRCm39) I539N probably damaging Het
Il17rb G A 14: 29,722,320 (GRCm39) T237I probably damaging Het
Ing2 T A 8: 48,122,293 (GRCm39) Q85L probably benign Het
Lrp4 C A 2: 91,324,174 (GRCm39) N1208K probably benign Het
Lvrn T A 18: 47,028,024 (GRCm39) S888R probably benign Het
Map2 T C 1: 66,454,488 (GRCm39) V1126A probably damaging Het
Mapkapk5 A G 5: 121,677,233 (GRCm39) probably null Het
Mis18bp1 T C 12: 65,196,021 (GRCm39) D581G probably benign Het
Muc4 T C 16: 32,599,320 (GRCm39) V3289A probably benign Het
Myom2 T A 8: 15,149,356 (GRCm39) I609N probably benign Het
Nav1 A T 1: 135,382,433 (GRCm39) M1343K probably damaging Het
Ndufaf1 T C 2: 119,486,207 (GRCm39) I302V probably damaging Het
Neb T A 2: 52,183,733 (GRCm39) K978N probably damaging Het
Nol8 A G 13: 49,820,831 (GRCm39) E878G probably damaging Het
Nrde2 A T 12: 100,097,016 (GRCm39) I928N probably damaging Het
Nxf1 T A 19: 8,741,910 (GRCm39) D145E probably benign Het
Obox3 T A 7: 15,360,027 (GRCm39) H214L probably benign Het
Obscn T C 11: 58,964,572 (GRCm39) E3199G probably damaging Het
Ogfod3 T C 11: 121,093,761 (GRCm39) E83G probably benign Het
Or11a4 T A 17: 37,536,688 (GRCm39) V224E probably benign Het
Or2r3 T G 6: 42,448,687 (GRCm39) M142L probably benign Het
Or6b2 A G 1: 92,408,178 (GRCm39) L55P probably damaging Het
Or8s8 T C 15: 98,354,425 (GRCm39) V78A probably benign Het
Pcsk4 G T 10: 80,164,809 (GRCm39) H69N probably benign Het
Plcl2 C T 17: 50,975,188 (GRCm39) probably null Het
Pmfbp1 T C 8: 110,256,898 (GRCm39) I534T probably damaging Het
Prss23 A T 7: 89,159,241 (GRCm39) I276N probably damaging Het
Ramac A G 7: 81,417,387 (GRCm39) Y29C probably damaging Het
Rhd T A 4: 134,621,696 (GRCm39) F403Y possibly damaging Het
Rsf1 CG CGACGGCGGAG 7: 97,229,115 (GRCm39) probably benign Homo
Scg5 A G 2: 113,657,737 (GRCm39) V58A possibly damaging Het
Scn5a C T 9: 119,315,102 (GRCm39) G1868R probably damaging Het
Secisbp2l A G 2: 125,610,245 (GRCm39) S225P possibly damaging Het
Sema4f A T 6: 82,894,613 (GRCm39) L486* probably null Het
Slc25a47 G A 12: 108,822,069 (GRCm39) R286H probably damaging Het
Slc5a8 A C 10: 88,740,916 (GRCm39) K277T probably damaging Het
Slc66a3 T C 12: 17,047,644 (GRCm39) Y96C probably damaging Het
Sorcs1 T A 19: 50,213,615 (GRCm39) E704V possibly damaging Het
Sptan1 T C 2: 29,908,527 (GRCm39) S1768P probably damaging Het
Srd5a2 C T 17: 74,328,378 (GRCm39) probably null Het
Sytl2 A T 7: 90,007,432 (GRCm39) K65* probably null Het
Tas2r109 T G 6: 132,957,844 (GRCm39) I29L probably benign Het
Tfap2a A T 13: 40,876,717 (GRCm39) V234E possibly damaging Het
Tgfbr3 G A 5: 107,325,679 (GRCm39) L128F probably benign Het
Trappc12 A T 12: 28,797,082 (GRCm39) L150Q probably damaging Het
Trim43b T A 9: 88,967,452 (GRCm39) I395L probably benign Het
U2surp C T 9: 95,373,474 (GRCm39) E232K probably benign Het
Vax1 T C 19: 59,154,656 (GRCm39) N327S probably benign Het
Vmn1r14 T C 6: 57,210,587 (GRCm39) V11A probably benign Het
Vmn1r60 A G 7: 5,547,782 (GRCm39) V106A probably damaging Het
Vmn2r106 T C 17: 20,498,667 (GRCm39) S415G probably benign Het
Vmn2r3 C T 3: 64,182,517 (GRCm39) G394D probably damaging Het
Ybx2 A G 11: 69,831,179 (GRCm39) E63G possibly damaging Het
Zfhx4 T A 3: 5,308,410 (GRCm39) N545K probably benign Het
Zp1 T C 19: 10,892,217 (GRCm39) T56A probably benign 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
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
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'- TGGCTCACTGCAAAGAGTGG -3'
(R):5'- CCCAAAGTCACATTCTAGCAGG -3'

Sequencing Primer
(F):5'- AAGAAGAGGTGCCCTTACAC -3'
(R):5'- GTCACATTCTAGCAGGAAAACAG -3'
Posted On 2018-05-04