Incidental Mutation 'IGL02684:Hoxd12'
ID303488
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hoxd12
Ensembl Gene ENSMUSG00000001823
Gene Namehomeobox D12
SynonymsHox-4.7, Hox-5.6
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.247) question?
Stock #IGL02684
Quality Score
Status
Chromosome2
Chromosomal Location74675013-74677705 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 74675561 bp
ZygosityHeterozygous
Amino Acid Change Serine to Glycine at position 159 (S159G)
Ref Sequence ENSEMBL: ENSMUSP00000001878 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001872] [ENSMUST00000001878]
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 benign
Transcript: ENSMUST00000001878
AA Change: S159G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000001878
Gene: ENSMUSG00000001823
AA Change: S159G

DomainStartEndE-ValueType
HOX 200 262 4.57e-21 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000048086
Coding Region Coverage
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930596D02Rik A T 14: 35,810,063 L185* probably null Het
Actrt3 A T 3: 30,599,691 D53E probably benign Het
Ankrd34b T C 13: 92,438,508 S83P probably damaging Het
Asap1 A G 15: 64,094,169 V1029A probably benign Het
Blk T C 14: 63,379,694 E288G probably benign Het
Cep192 T G 18: 67,834,563 V706G probably damaging Het
Chd2 T C 7: 73,475,349 K908E probably damaging Het
Dnm1l A T 16: 16,321,657 I391N possibly damaging Het
Fam84a T C 12: 14,150,645 D27G probably damaging Het
Fmn1 A G 2: 113,525,277 R688G unknown Het
Gdap2 A G 3: 100,171,020 D100G probably benign Het
Gm43638 T C 5: 87,462,910 I522V possibly damaging Het
Gm438 A G 4: 144,778,185 probably benign Het
Gsap A T 5: 21,242,803 probably null Het
Ints7 A G 1: 191,613,637 probably null Het
Iqsec3 G A 6: 121,412,941 Q524* probably null Het
Klra10 T A 6: 130,281,882 H14L possibly damaging Het
Mettl15 T C 2: 109,131,580 E228G probably damaging Het
Olfr466 G A 13: 65,152,396 M57I probably damaging Het
Olfr624 T C 7: 103,670,384 M216V probably benign Het
Pabpc1l A G 2: 164,031,277 N156D probably benign Het
Pkhd1l1 G T 15: 44,516,209 probably null Het
Pm20d1 T A 1: 131,804,959 N345K probably benign Het
Rasgrp1 A G 2: 117,282,576 V785A probably benign Het
Sos2 A G 12: 69,596,666 L980S probably damaging Het
Stam2 A T 2: 52,719,935 H56Q probably damaging Het
Trpm6 T A 19: 18,802,207 probably benign Het
Trpm7 A T 2: 126,846,159 D249E probably damaging Het
Vmn1r203 A T 13: 22,524,369 T107S possibly damaging Het
Vmn2r55 A G 7: 12,670,960 L172P probably damaging Het
Vrtn A G 12: 84,650,149 R558G probably benign Het
Zfp977 A T 7: 42,583,015 D7E probably damaging Het
Other mutations in Hoxd12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00422:Hoxd12 APN 2 74675427 missense probably damaging 1.00
IGL01324:Hoxd12 APN 2 74675136 missense probably damaging 1.00
IGL02229:Hoxd12 APN 2 74675934 missense probably damaging 1.00
R0661:Hoxd12 UTSW 2 74675892 missense probably damaging 0.98
R0975:Hoxd12 UTSW 2 74675934 missense probably damaging 1.00
R1931:Hoxd12 UTSW 2 74675513 missense probably benign
R1931:Hoxd12 UTSW 2 74675531 missense probably benign 0.00
R2510:Hoxd12 UTSW 2 74675471 missense possibly damaging 0.56
R2511:Hoxd12 UTSW 2 74675471 missense possibly damaging 0.56
R3946:Hoxd12 UTSW 2 74675427 missense probably damaging 1.00
R5194:Hoxd12 UTSW 2 74675103 missense probably damaging 1.00
R7326:Hoxd12 UTSW 2 74675246 missense possibly damaging 0.48
R7426:Hoxd12 UTSW 2 74675225 missense possibly damaging 0.82
Posted On2015-04-16