Incidental Mutation 'IGL00422:Hoxd12'
ID7161
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? Possibly non essential (E-score: 0.493) question?
Stock #IGL00422
Quality Score
Status
Chromosome2
Chromosomal Location74675013-74677705 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 74675427 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glutamine at position 114 (R114Q)
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 damaging
Transcript: ENSMUST00000001878
AA Change: R114Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000001878
Gene: ENSMUSG00000001823
AA Change: R114Q

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 C T 19: 57,068,186 A359T probably damaging Het
Ajuba A T 14: 54,571,769 Y400* probably null Het
Cckar T A 5: 53,699,829 D342V possibly damaging Het
Cdc123 A G 2: 5,798,449 V253A probably benign Het
Cep162 T C 9: 87,227,167 D461G probably benign Het
Chd7 G A 4: 8,859,106 E2399K probably damaging Het
Cln8 G A 8: 14,896,637 C217Y probably benign Het
Dchs1 A G 7: 105,758,029 V2119A possibly damaging Het
Dhx33 T C 11: 71,001,620 S108G probably benign Het
Dip2a T A 10: 76,313,236 M194L probably benign Het
Dnah11 T C 12: 118,068,096 K1779R probably damaging Het
Fads3 T G 19: 10,055,681 F328V possibly damaging Het
Flad1 A G 3: 89,405,853 probably null Het
Gm5346 A G 8: 43,626,351 F279L probably damaging Het
Gm7535 G T 17: 17,911,888 probably benign Het
Gnpat A G 8: 124,885,013 E513G probably damaging Het
H2-M5 A G 17: 36,987,840 I238T probably damaging Het
Ide T C 19: 37,276,532 I903V unknown Het
Ifi209 T G 1: 173,638,963 D120E possibly damaging Het
Map3k10 T C 7: 27,668,469 D248G probably damaging Het
Mat2b C A 11: 40,687,738 G41C probably damaging Het
Mfsd4a T C 1: 132,040,594 I369V probably benign Het
Myom1 T A 17: 71,126,098 V1480E probably damaging Het
Myom2 A T 8: 15,069,490 D127V probably damaging Het
Olfml2b T A 1: 170,669,066 V422E probably damaging Het
Pkn3 G A 2: 30,081,104 A228T probably damaging Het
Rad17 A T 13: 100,629,525 I365K probably benign Het
Rad17 A T 13: 100,629,523 S366T probably damaging Het
Rpp14 G A 14: 8,083,934 G30E possibly damaging Het
Slco1a6 A C 6: 142,161,017 C15G probably benign Het
Spag9 T A 11: 94,097,866 F571I probably benign Het
Ttc27 T A 17: 74,780,816 C459S probably damaging Het
Washc2 A G 6: 116,256,676 T888A probably benign Het
Zcchc7 A T 4: 44,931,318 H490L possibly damaging Het
Other mutations in Hoxd12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01324:Hoxd12 APN 2 74675136 missense probably damaging 1.00
IGL02229:Hoxd12 APN 2 74675934 missense probably damaging 1.00
IGL02684:Hoxd12 APN 2 74675561 missense probably benign
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 On2012-04-20