Incidental Mutation 'R0661:Hoxd12'
ID 61826
Institutional Source Beutler Lab
Gene Symbol Hoxd12
Ensembl Gene ENSMUSG00000001823
Gene Name homeobox D12
Synonyms Hox-4.7, Hox-5.6
MMRRC Submission 038846-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.352) question?
Stock # R0661 (G1)
Quality Score 117
Status Not validated
Chromosome 2
Chromosomal Location 74505357-74508049 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 74506236 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 216 (E216G)
Ref Sequence ENSEMBL: ENSMUSP00000001878 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001872] [ENSMUST00000001878]
AlphaFold P23812
Predicted Effect probably benign
Transcript: ENSMUST00000001872
SMART Domains Protein: ENSMUSP00000001872
Gene: ENSMUSG00000001819

DomainStartEndE-ValueType
low complexity region 14 34 N/A INTRINSIC
Pfam:HoxA13_N 75 177 4e-18 PFAM
HOX 272 334 4.33e-22 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000001878
AA Change: E216G

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000001878
Gene: ENSMUSG00000001823
AA Change: E216G

DomainStartEndE-ValueType
HOX 200 262 4.57e-21 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000048086
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.5%
  • 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 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 exact role of this gene has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit minor forelimb defects affecting carpals, metacarpals, and phalanges, and alterations of smooth muscle layers of the rectum resulting in malformation of the internal anal sphincter. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtr1b T A 3: 20,370,163 (GRCm39) T148S possibly damaging Het
Anks3 A G 16: 4,766,198 (GRCm39) F124L probably damaging Het
Ar T A X: 97,194,171 (GRCm39) Y262N probably damaging Het
Asxl1 T A 2: 153,242,644 (GRCm39) S1065T possibly damaging Het
Brip1 A T 11: 86,001,189 (GRCm39) I749N possibly damaging Het
C1ra T A 6: 124,499,336 (GRCm39) H507Q probably benign Het
Cdk9 G A 2: 32,599,832 (GRCm39) T135I probably damaging Het
Col1a1 A G 11: 94,840,215 (GRCm39) T1088A unknown Het
Cpne2 T C 8: 95,282,667 (GRCm39) I283T possibly damaging Het
Dcaf17 T C 2: 70,918,779 (GRCm39) L451P probably damaging Het
Dhx57 C T 17: 80,576,293 (GRCm39) C599Y probably damaging Het
Drd1 T A 13: 54,207,057 (GRCm39) N379Y possibly damaging Het
Fsip2 A G 2: 82,816,513 (GRCm39) D4082G possibly damaging Het
Grin2a G T 16: 9,810,336 (GRCm39) P21Q probably damaging Het
Heyl G T 4: 123,139,824 (GRCm39) V128F probably damaging Het
Inpp4b C A 8: 82,468,091 (GRCm39) A18E possibly damaging Het
Invs G A 4: 48,421,861 (GRCm39) R831H probably benign Het
Lrrk2 T C 15: 91,671,219 (GRCm39) V2000A probably damaging Het
Msh3 T C 13: 92,481,604 (GRCm39) N303D possibly damaging Het
Or11g27 A G 14: 50,771,552 (GRCm39) T228A probably benign Het
Or5an9 T C 19: 12,187,068 (GRCm39) L46P probably damaging Het
Or5b105 G A 19: 13,080,642 (GRCm39) R3C possibly damaging Het
Pcdh18 A C 3: 49,707,767 (GRCm39) S902R possibly damaging Het
Prdm15 A T 16: 97,630,882 (GRCm39) V190E probably benign Het
Ranbp2 T G 10: 58,314,555 (GRCm39) S1758R probably benign Het
Rimbp2 A G 5: 128,863,774 (GRCm39) V738A probably benign Het
Rtl5 T C X: 101,114,056 (GRCm39) H138R possibly damaging Het
Sec11a A G 7: 80,584,787 (GRCm39) V50A probably damaging Het
Shroom1 T C 11: 53,357,764 (GRCm39) S772P possibly damaging Het
Slc26a6 T C 9: 108,736,312 (GRCm39) probably null Het
Slf1 A G 13: 77,231,715 (GRCm39) W555R probably benign Het
Spx A G 6: 142,359,565 (GRCm39) S5G possibly damaging Het
Tcp1 T C 17: 13,142,200 (GRCm39) V398A probably benign Het
Tm6sf1 G A 7: 81,515,093 (GRCm39) probably null Het
Tsbp1 A T 17: 34,678,887 (GRCm39) I217F possibly damaging Het
Ufsp2 T A 8: 46,432,270 (GRCm39) M1K probably null Het
Usf1 G A 1: 171,245,067 (GRCm39) R196Q probably damaging Het
Vmn2r75 G A 7: 85,814,866 (GRCm39) A209V probably benign Het
Yme1l1 T A 2: 23,081,054 (GRCm39) M442K probably damaging Het
Zfand3 A G 17: 30,354,372 (GRCm39) E63G probably damaging Het
Zfp740 A G 15: 102,121,094 (GRCm39) T136A possibly damaging Het
Other mutations in Hoxd12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00422:Hoxd12 APN 2 74,505,771 (GRCm39) missense probably damaging 1.00
IGL01324:Hoxd12 APN 2 74,505,480 (GRCm39) missense probably damaging 1.00
IGL02229:Hoxd12 APN 2 74,506,278 (GRCm39) missense probably damaging 1.00
IGL02684:Hoxd12 APN 2 74,505,905 (GRCm39) missense probably benign
R0975:Hoxd12 UTSW 2 74,506,278 (GRCm39) missense probably damaging 1.00
R1931:Hoxd12 UTSW 2 74,505,875 (GRCm39) missense probably benign 0.00
R1931:Hoxd12 UTSW 2 74,505,857 (GRCm39) missense probably benign
R2510:Hoxd12 UTSW 2 74,505,815 (GRCm39) missense possibly damaging 0.56
R2511:Hoxd12 UTSW 2 74,505,815 (GRCm39) missense possibly damaging 0.56
R3946:Hoxd12 UTSW 2 74,505,771 (GRCm39) missense probably damaging 1.00
R5194:Hoxd12 UTSW 2 74,505,447 (GRCm39) missense probably damaging 1.00
R7326:Hoxd12 UTSW 2 74,505,590 (GRCm39) missense possibly damaging 0.48
R7426:Hoxd12 UTSW 2 74,505,569 (GRCm39) missense possibly damaging 0.82
R7972:Hoxd12 UTSW 2 74,506,269 (GRCm39) missense probably damaging 1.00
R9138:Hoxd12 UTSW 2 74,505,902 (GRCm39) missense probably benign 0.18
R9330:Hoxd12 UTSW 2 74,505,733 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TGTGCCTCCAGCTTCAAGGAAGAC -3'
(R):5'- TAATAGAGGGCCAGTGCTTGCTCG -3'

Sequencing Primer
(F):5'- CTCAACTTGAACATGGCAGTG -3'
(R):5'- TGCTCGCGCTGCACTAC -3'
Posted On 2013-07-30