Incidental Mutation 'R3895:Hoxd11'
ID 359740
Institutional Source Beutler Lab
Gene Symbol Hoxd11
Ensembl Gene ENSMUSG00000042499
Gene Name homeobox D11
Synonyms Hox-5.5, E230017H14Rik, Hox-5.4, Hox-4.6
MMRRC Submission 040806-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.761) question?
Stock # R3895 (G1)
Quality Score 35.8
Status Validated
Chromosome 2
Chromosomal Location 74509902-74517360 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 74513136 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 134 (R134W)
Ref Sequence ENSEMBL: ENSMUSP00000122582 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000142312]
AlphaFold no structure available at present
Predicted Effect noncoding transcript
Transcript: ENSMUST00000048086
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136302
Predicted Effect probably damaging
Transcript: ENSMUST00000142312
AA Change: R134W

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000122582
Gene: ENSMUSG00000042499
AA Change: R134W

Pfam:DUF3528 26 80 5.4e-25 PFAM
Pfam:DUF3528 103 198 7.1e-21 PFAM
low complexity region 224 257 N/A INTRINSIC
HOX 264 326 1.58e-24 SMART
Meta Mutation Damage Score 0.1464 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 96% (45/47)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located in a cluster on chromosome 2. Deletions that remove the entire HOXD gene cluster or the 5' end of this cluster have been associated with severe limb and genital abnormalities. The product of the mouse Hoxd11 gene plays a role in forelimb morphogenesis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit homeotic transformations of sacral vertebrae, malformations of distal limbs, and reduced fertility in males. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acoxl T C 2: 127,814,445 (GRCm39) probably benign Het
C6 T C 15: 4,837,952 (GRCm39) V854A probably benign Het
Ccnd1 T C 7: 144,491,631 (GRCm39) E136G probably damaging Het
CK137956 A T 4: 127,840,441 (GRCm39) F422I probably benign Het
Csta1 T C 16: 35,951,402 (GRCm39) T7A probably benign Het
Dock8 A G 19: 25,028,865 (GRCm39) E23G probably benign Het
Fbxo8 A T 8: 57,044,556 (GRCm39) R286S probably damaging Het
Gm12258 T G 11: 58,749,375 (GRCm39) Y183* probably null Het
Gvin-ps6 T A 7: 106,022,621 (GRCm39) H127L probably damaging Het
Hectd3 A G 4: 116,853,286 (GRCm39) D171G probably damaging Het
Ighg2c T C 12: 113,251,278 (GRCm39) T246A unknown Het
Ints6 T C 14: 62,934,060 (GRCm39) I816V probably damaging Het
Lrp4 G A 2: 91,304,294 (GRCm39) G158S probably damaging Het
Mast1 G A 8: 85,662,352 (GRCm39) P52L probably damaging Het
Med13l A G 5: 118,899,388 (GRCm39) D2148G probably null Het
Med24 A G 11: 98,597,214 (GRCm39) S889P probably benign Het
Mgam T A 6: 40,736,054 (GRCm39) M851K probably damaging Het
Mkln1 T A 6: 31,484,602 (GRCm39) L710H probably damaging Het
Morf4l1 A T 9: 89,976,501 (GRCm39) F276I possibly damaging Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Myt1 T A 2: 181,461,863 (GRCm39) S574R probably damaging Het
Nol11 C A 11: 107,059,173 (GRCm39) V644F probably damaging Het
Nusap1 C A 2: 119,458,172 (GRCm39) Q103K possibly damaging Het
Ovgp1 A G 3: 105,893,912 (GRCm39) probably benign Het
Pcdh9 C T 14: 94,124,974 (GRCm39) V399M probably damaging Het
Plekhh1 T C 12: 79,102,006 (GRCm39) S359P probably benign Het
Prg4 G C 1: 150,330,510 (GRCm39) probably benign Het
Ptpn14 C T 1: 189,582,743 (GRCm39) A530V probably benign Het
Rho A G 6: 115,910,863 (GRCm39) Y136C probably damaging Het
Rps3 C T 7: 99,129,103 (GRCm39) R173H probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sall2 T C 14: 52,551,504 (GRCm39) N564D probably damaging Het
Sart3 G A 5: 113,890,488 (GRCm39) R452* probably null Het
Sbf2 T C 7: 110,046,298 (GRCm39) I300V probably damaging Het
Sgo2b A T 8: 64,381,767 (GRCm39) V355E possibly damaging Het
Slc22a5 T C 11: 53,756,651 (GRCm39) K553R possibly damaging Het
Syne1 A G 10: 5,355,456 (GRCm39) V375A probably damaging Het
Trafd1 T C 5: 121,516,804 (GRCm39) E28G probably benign Het
Tsc2 T C 17: 24,818,786 (GRCm39) K1292R probably damaging Het
Twnk A G 19: 44,995,890 (GRCm39) T108A probably damaging Het
Unc13c A T 9: 73,840,805 (GRCm39) H15Q probably benign Het
Vps16 T C 2: 130,280,596 (GRCm39) S208P possibly damaging Het
Other mutations in Hoxd11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00550:Hoxd11 APN 2 74,514,385 (GRCm39) missense probably damaging 1.00
R1202:Hoxd11 UTSW 2 74,512,921 (GRCm39) missense possibly damaging 0.92
R3935:Hoxd11 UTSW 2 74,514,376 (GRCm39) missense probably benign 0.28
R5386:Hoxd11 UTSW 2 74,513,163 (GRCm39) nonsense probably null
R7322:Hoxd11 UTSW 2 74,514,355 (GRCm39) missense probably damaging 1.00
R7476:Hoxd11 UTSW 2 74,514,459 (GRCm39) missense probably damaging 0.96
R8060:Hoxd11 UTSW 2 74,512,720 (GRCm39) start gained probably benign
R8188:Hoxd11 UTSW 2 74,514,298 (GRCm39) missense probably damaging 1.00
R8315:Hoxd11 UTSW 2 74,513,466 (GRCm39) missense probably benign 0.00
R8697:Hoxd11 UTSW 2 74,513,013 (GRCm39) missense unknown
R8875:Hoxd11 UTSW 2 74,513,365 (GRCm39) missense probably benign 0.00
R9093:Hoxd11 UTSW 2 74,514,482 (GRCm39) makesense probably null
R9102:Hoxd11 UTSW 2 74,513,274 (GRCm39) missense possibly damaging 0.93
R9570:Hoxd11 UTSW 2 74,512,812 (GRCm39) missense possibly damaging 0.86
Z1177:Hoxd11 UTSW 2 74,512,759 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-12-15