Incidental Mutation 'IGL02113:Hoxa11'
ID280267
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hoxa11
Ensembl Gene ENSMUSG00000038210
Gene Namehomeobox A11
SynonymsHoxa-11, Hox-1.9
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.937) question?
Stock #IGL02113
Quality Score
Status
Chromosome6
Chromosomal Location52242106-52245810 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 52245317 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Serine at position 135 (G135S)
Ref Sequence ENSEMBL: ENSMUSP00000040920 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048026] [ENSMUST00000121043]
Predicted Effect probably damaging
Transcript: ENSMUST00000048026
AA Change: G135S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040920
Gene: ENSMUSG00000038210
AA Change: G135S

DomainStartEndE-ValueType
Pfam:DUF3528 26 168 4.7e-67 PFAM
low complexity region 172 226 N/A INTRINSIC
HOX 241 303 9.56e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000121043
SMART Domains Protein: ENSMUSP00000112872
Gene: ENSMUSG00000000938

DomainStartEndE-ValueType
HOX 20 82 1.15e-26 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131495
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134512
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137729
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141850
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142611
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147174
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154027
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156515
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183562
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184104
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184301
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184302
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185090
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185194
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene is located in a cluster of developmentally and temporally regulated genes on chromosome 6 encoding proteins involved in pattern formation. These proteins contain a characteristic DNA-binding motif called a homeodomain and function in transcriptional regulation. There are four distinct clusters of related genes on chromosomes 2, 6, 11, and 15. The protein encoded by this gene is important in the development of the skeleton, limbs, and urogenital tract. Expression of this gene may be regulated by overlapping transcription from an adjacent locus on the opposite strand (GeneID: 15397). [provided by RefSeq, Mar 2013]
PHENOTYPE: Homozygotes for targeted null mutations exhibit homeotic transformations affecting thoracic and sacral vertebrae, and forelimb defects. Mutants are sterile due to malformed vas deferens and cryptorchism in males, and defective uteri in females. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A T 3: 122,110,478 H726L possibly damaging Het
Aqr A T 2: 114,120,027 Y900* probably null Het
Atp11a G T 8: 12,865,048 R1155S probably benign Het
Bahd1 A G 2: 118,917,205 D435G probably benign Het
Brca2 A G 5: 150,540,979 T1403A possibly damaging Het
Cc2d2a T A 5: 43,685,248 probably null Het
Cog7 A G 7: 121,925,480 I697T probably damaging Het
Dclre1a A G 19: 56,541,532 V791A probably damaging Het
Dgki A G 6: 36,913,625 probably benign Het
Dpyd A G 3: 118,999,219 Y525C probably benign Het
Eepd1 T C 9: 25,482,713 L91P probably damaging Het
Foxf1 T A 8: 121,084,565 L56H probably damaging Het
Fry A T 5: 150,399,605 M1074L probably benign Het
Gbx1 T C 5: 24,504,876 T324A probably damaging Het
Gfpt1 T A 6: 87,087,367 N646K probably benign Het
Gm10258 C T 3: 30,268,393 probably benign Het
Gm12887 T C 4: 121,616,495 M53V probably benign Het
Mettl6 A T 14: 31,482,831 Y211* probably null Het
Moxd2 T C 6: 40,885,404 I160M probably benign Het
Mphosph10 G A 7: 64,376,807 probably benign Het
Mrpl19 T A 6: 81,965,915 M5L probably benign Het
Nbea A G 3: 55,992,492 V1412A probably benign Het
Nceh1 G T 3: 27,222,891 S121I probably damaging Het
Ntan1 A G 16: 13,835,144 T217A probably damaging Het
Ogfod1 C T 8: 94,064,213 A504V probably damaging Het
Olfr584 A T 7: 103,085,850 I111L possibly damaging Het
Pde3b G A 7: 114,526,906 V792M probably damaging Het
Pde9a A T 17: 31,459,970 M262L probably benign Het
Pi4ka A G 16: 17,373,415 V206A probably benign Het
Pkp1 A T 1: 135,883,914 N406K possibly damaging Het
Rcn3 A G 7: 45,083,338 I302T probably damaging Het
Rfx6 A G 10: 51,678,012 Q68R probably benign Het
Rpgrip1 A G 14: 52,133,844 D340G possibly damaging Het
Scn10a C T 9: 119,609,890 G1638S probably damaging Het
Serpinb9f A T 13: 33,334,468 H317L probably damaging Het
Setdb2 C T 14: 59,402,315 R709Q probably damaging Het
Slc40a1 A G 1: 45,910,894 I466T probably benign Het
Smyd2 A T 1: 189,882,217 S371R probably damaging Het
Snap47 A C 11: 59,428,436 I292S probably damaging Het
Tbx4 A G 11: 85,912,264 E322G possibly damaging Het
Tg A G 15: 66,705,330 T1501A probably benign Het
Tmem259 A G 10: 79,978,709 V300A probably benign Het
Usp7 A G 16: 8,716,513 probably null Het
Vmn2r94 G T 17: 18,257,675 T158K probably damaging Het
Vmn2r95 G T 17: 18,439,907 A194S possibly damaging Het
Zfp944 A T 17: 22,339,066 I400N possibly damaging Het
Zmynd12 T A 4: 119,433,997 I53K probably damaging Het
Other mutations in Hoxa11
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1483:Hoxa11 UTSW 6 52243456 missense probably damaging 1.00
R4077:Hoxa11 UTSW 6 52245524 missense probably damaging 1.00
R4665:Hoxa11 UTSW 6 52243503 missense probably damaging 1.00
R5772:Hoxa11 UTSW 6 52245400 missense possibly damaging 0.46
R6195:Hoxa11 UTSW 6 52245701 missense probably damaging 1.00
Posted On2015-04-16