Incidental Mutation 'R8875:Hoxd11'
ID 676505
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 068687-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.693) question?
Stock # R8875 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 74509902-74517360 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 74513365 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 210 (D210G)
Ref Sequence ENSEMBL: ENSMUSP00000122582 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000142312]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000142312
AA Change: D210G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000122582
Gene: ENSMUSG00000042499
AA Change: D210G

DomainStartEndE-ValueType
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (49/49)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610010K14Rik A G 11: 70,126,380 (GRCm39) V140A Het
Ablim1 G T 19: 57,119,386 (GRCm39) H233N probably benign Het
Adra1a A T 14: 66,875,214 (GRCm39) Y63F possibly damaging Het
Ank3 A G 10: 69,660,233 (GRCm39) D245G unknown Het
Ap4e1 T C 2: 126,877,100 (GRCm39) I279T probably damaging Het
Bap1 T G 14: 30,975,522 (GRCm39) F122C probably damaging Het
Cdc5l T C 17: 45,703,915 (GRCm39) probably benign Het
Chd2 A T 7: 73,151,783 (GRCm39) I309N probably damaging Het
Cnpy3 T C 17: 47,048,185 (GRCm39) I177V probably damaging Het
Cp A G 3: 20,027,994 (GRCm39) K467E possibly damaging Het
D630039A03Rik T G 4: 57,910,320 (GRCm39) N164T probably benign Het
Dnah7a C A 1: 53,682,682 (GRCm39) A263S probably benign Het
Eif2s1 G A 12: 78,913,461 (GRCm39) R54Q probably damaging Het
Fasn A T 11: 120,703,224 (GRCm39) D1600E possibly damaging Het
Fat1 T A 8: 45,493,600 (GRCm39) F3915L probably damaging Het
Fiz1 A T 7: 5,012,093 (GRCm39) S142T probably benign Het
Fnip1 A G 11: 54,406,380 (GRCm39) Y1159C probably damaging Het
Fsip2 T A 2: 82,820,782 (GRCm39) V5505D possibly damaging Het
Gabrg3 A G 7: 56,379,514 (GRCm39) M296T probably damaging Het
Gm11562 A T 11: 99,511,177 (GRCm39) S8T unknown Het
Hsd17b2 T C 8: 118,469,101 (GRCm39) V171A possibly damaging Het
Ifi206 T C 1: 173,301,353 (GRCm39) Y775C unknown Het
Nherf2 T A 17: 24,866,703 (GRCm39) probably null Het
Nr2f1 A C 13: 78,337,970 (GRCm39) I382S probably damaging Het
Nrp1 T A 8: 129,207,472 (GRCm39) probably null Het
Or51l4 G A 7: 103,404,462 (GRCm39) S110F probably damaging Het
Or52h7 A G 7: 104,213,670 (GRCm39) T81A probably benign Het
Pdcd1 C T 1: 93,967,092 (GRCm39) D269N probably benign Het
Pira12 A G 7: 3,897,256 (GRCm39) S527P probably damaging Het
Plbd2 A G 5: 120,637,121 (GRCm39) Y114H probably damaging Het
Plch1 A G 3: 63,618,391 (GRCm39) C715R probably damaging Het
Plin4 G A 17: 56,411,010 (GRCm39) A1007V probably benign Het
Ptprs G T 17: 56,742,946 (GRCm39) P399T probably damaging Het
Pum1 T A 4: 130,507,186 (GRCm39) I1181N possibly damaging Het
Qrich1 A G 9: 108,436,502 (GRCm39) probably benign Het
Rbm12 T C 2: 155,938,841 (GRCm39) E477G probably damaging Het
Rpl7 T C 1: 16,173,753 (GRCm39) K57R probably benign Het
Spata31h1 G A 10: 82,123,476 (GRCm39) A3178V probably benign Het
Stab2 C T 10: 86,832,728 (GRCm39) C99Y probably damaging Het
Tas1r1 T A 4: 152,113,047 (GRCm39) T669S probably benign Het
Tle5 A T 10: 81,400,534 (GRCm39) I73F probably benign Het
Tm2d2 T C 8: 25,507,443 (GRCm39) L20P possibly damaging Het
Tmem158 G T 9: 123,089,132 (GRCm39) A160E possibly damaging Het
Tpst2 T A 5: 112,457,714 (GRCm39) Y347* probably null Het
Trpm3 T C 19: 22,887,493 (GRCm39) I876T probably damaging Het
Ttc6 T C 12: 57,751,199 (GRCm39) F1364L probably damaging Het
Ttc6 T A 12: 57,776,194 (GRCm39) S1713T possibly damaging Het
Vmn2r85 A G 10: 130,254,171 (GRCm39) S838P probably damaging Het
Zc2hc1c T C 12: 85,336,549 (GRCm39) S69P possibly damaging Het
Zfp982 C A 4: 147,595,320 (GRCm39) N47K probably benign 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
R3895:Hoxd11 UTSW 2 74,513,136 (GRCm39) missense probably damaging 0.99
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
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
(F):5'- CATGCAACGAGATCTGCTCC -3'
(R):5'- AGTAGCACATAAAACGGCGC -3'

Sequencing Primer
(F):5'- AGACGTGCTCTTCAAGGCTC -3'
(R):5'- CGCAAGCAGAGGGAGGTCC -3'
Posted On 2021-07-15