Incidental Mutation 'IGL02113:Hoxa11'
ID 280267
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hoxa11
Ensembl Gene ENSMUSG00000038210
Gene Name homeobox A11
Synonyms Hoxa-11, Hox-1.9
Accession Numbers
Essential gene? Probably essential (E-score: 0.950) question?
Stock # IGL02113
Quality Score
Status
Chromosome 6
Chromosomal Location 52219086-52222784 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 52222297 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold P31311
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: ENSMUST00000154027
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184302
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147174
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185090
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185194
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156515
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184104
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183562
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184301
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: 121,904,127 (GRCm39) H726L possibly damaging Het
Aqr A T 2: 113,950,508 (GRCm39) Y900* probably null Het
Atp11a G T 8: 12,915,048 (GRCm39) R1155S probably benign Het
Bahd1 A G 2: 118,747,686 (GRCm39) D435G probably benign Het
Brca2 A G 5: 150,464,444 (GRCm39) T1403A possibly damaging Het
Cc2d2a T A 5: 43,842,590 (GRCm39) probably null Het
Cog7 A G 7: 121,524,703 (GRCm39) I697T probably damaging Het
Dclre1a A G 19: 56,529,964 (GRCm39) V791A probably damaging Het
Dgki A G 6: 36,890,560 (GRCm39) probably benign Het
Dpyd A G 3: 118,792,868 (GRCm39) Y525C probably benign Het
Eepd1 T C 9: 25,394,009 (GRCm39) L91P probably damaging Het
Foxf1 T A 8: 121,811,304 (GRCm39) L56H probably damaging Het
Fry A T 5: 150,323,070 (GRCm39) M1074L probably benign Het
Gbx1 T C 5: 24,709,874 (GRCm39) T324A probably damaging Het
Gfpt1 T A 6: 87,064,349 (GRCm39) N646K probably benign Het
Gm10258 C T 3: 30,322,542 (GRCm39) probably benign Het
Gm12887 T C 4: 121,473,692 (GRCm39) M53V probably benign Het
Mettl6 A T 14: 31,204,788 (GRCm39) Y211* probably null Het
Moxd2 T C 6: 40,862,338 (GRCm39) I160M probably benign Het
Mphosph10 G A 7: 64,026,555 (GRCm39) probably benign Het
Mrpl19 T A 6: 81,942,896 (GRCm39) M5L probably benign Het
Nbea A G 3: 55,899,913 (GRCm39) V1412A probably benign Het
Nceh1 G T 3: 27,277,040 (GRCm39) S121I probably damaging Het
Ntan1 A G 16: 13,653,008 (GRCm39) T217A probably damaging Het
Ogfod1 C T 8: 94,790,841 (GRCm39) A504V probably damaging Het
Or52r1c A T 7: 102,735,057 (GRCm39) I111L possibly damaging Het
Pde3b G A 7: 114,126,141 (GRCm39) V792M probably damaging Het
Pde9a A T 17: 31,678,944 (GRCm39) M262L probably benign Het
Pi4ka A G 16: 17,191,279 (GRCm39) V206A probably benign Het
Pkp1 A T 1: 135,811,652 (GRCm39) N406K possibly damaging Het
Rcn3 A G 7: 44,732,762 (GRCm39) I302T probably damaging Het
Rfx6 A G 10: 51,554,108 (GRCm39) Q68R probably benign Het
Rpgrip1 A G 14: 52,371,301 (GRCm39) D340G possibly damaging Het
Scn10a C T 9: 119,438,956 (GRCm39) G1638S probably damaging Het
Serpinb9f A T 13: 33,518,451 (GRCm39) H317L probably damaging Het
Setdb2 C T 14: 59,639,764 (GRCm39) R709Q probably damaging Het
Slc40a1 A G 1: 45,950,054 (GRCm39) I466T probably benign Het
Smyd2 A T 1: 189,614,414 (GRCm39) S371R probably damaging Het
Snap47 A C 11: 59,319,262 (GRCm39) I292S probably damaging Het
Tbx4 A G 11: 85,803,090 (GRCm39) E322G possibly damaging Het
Tg A G 15: 66,577,179 (GRCm39) T1501A probably benign Het
Tmem259 A G 10: 79,814,543 (GRCm39) V300A probably benign Het
Usp7 A G 16: 8,534,377 (GRCm39) probably null Het
Vmn2r94 G T 17: 18,477,937 (GRCm39) T158K probably damaging Het
Vmn2r95 G T 17: 18,660,169 (GRCm39) A194S possibly damaging Het
Zfp944 A T 17: 22,558,047 (GRCm39) I400N possibly damaging Het
Zmynd12 T A 4: 119,291,194 (GRCm39) I53K probably damaging Het
Other mutations in Hoxa11
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1483:Hoxa11 UTSW 6 52,220,436 (GRCm39) missense probably damaging 1.00
R4077:Hoxa11 UTSW 6 52,222,504 (GRCm39) missense probably damaging 1.00
R4665:Hoxa11 UTSW 6 52,220,483 (GRCm39) missense probably damaging 1.00
R5772:Hoxa11 UTSW 6 52,222,380 (GRCm39) missense possibly damaging 0.46
R6195:Hoxa11 UTSW 6 52,222,681 (GRCm39) missense probably damaging 1.00
R7593:Hoxa11 UTSW 6 52,220,524 (GRCm39) missense probably damaging 1.00
R7681:Hoxa11 UTSW 6 52,222,099 (GRCm39) missense probably benign
R7732:Hoxa11 UTSW 6 52,220,415 (GRCm39) missense probably damaging 1.00
R8508:Hoxa11 UTSW 6 52,222,782 (GRCm39) unclassified probably benign
R9608:Hoxa11 UTSW 6 52,222,224 (GRCm39) missense probably benign 0.00
Z1177:Hoxa11 UTSW 6 52,222,090 (GRCm39) nonsense probably null
Posted On 2015-04-16