Incidental Mutation 'R8508:Hoxa11'
ID 655695
Institutional Source Beutler Lab
Gene Symbol Hoxa11
Ensembl Gene ENSMUSG00000038210
Gene Name homeobox A11
Synonyms Hoxa-11, Hox-1.9
MMRRC Submission 067844-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.949) question?
Stock # R8508 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 52219086-52222784 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 52222782 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000112872 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048026] [ENSMUST00000121043]
AlphaFold P31311
Predicted Effect probably benign
Transcript: ENSMUST00000048026
SMART Domains Protein: ENSMUSP00000040920
Gene: ENSMUSG00000038210

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.0%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik T G 16: 90,852,500 (GRCm39) Y212S probably damaging Het
Angpt1 T C 15: 42,375,795 (GRCm39) N154D probably damaging Het
Angpt2 G A 8: 18,791,135 (GRCm39) R54* probably null Het
Ankrd27 T A 7: 35,301,051 (GRCm39) L117* probably null Het
Arhgap21 C T 2: 20,858,991 (GRCm39) M1234I probably benign Het
Arhgef33 A G 17: 80,674,764 (GRCm39) E387G probably damaging Het
Atp13a4 T A 16: 29,273,587 (GRCm39) K444* probably null Het
Atp6v1a G A 16: 43,922,225 (GRCm39) R338C probably damaging Het
Canx T C 11: 50,202,474 (GRCm39) D44G possibly damaging Het
Ccdc141 T A 2: 76,962,588 (GRCm39) M119L probably benign Het
Ckmt1 A C 2: 121,193,172 (GRCm39) Q299P possibly damaging Het
Dhx16 T C 17: 36,196,812 (GRCm39) S601P probably damaging Het
Dna2 A C 10: 62,786,673 (GRCm39) R140S probably damaging Het
Dock1 A G 7: 134,384,138 (GRCm39) T670A probably benign Het
Eif1ad10 T G 12: 88,216,455 (GRCm39) E139A unknown Het
Eogt A G 6: 97,120,959 (GRCm39) S85P possibly damaging Het
Fbf1 A T 11: 116,056,707 (GRCm39) M1K probably null Het
Fbxl12 C A 9: 20,550,160 (GRCm39) R165L possibly damaging Het
Flnb G A 14: 7,950,394 (GRCm38) V2571I probably damaging Het
Gm43518 A G 5: 124,076,322 (GRCm39) E123G unknown Het
Gpatch2 A G 1: 187,036,552 (GRCm39) N374S probably benign Het
Hey1 G C 3: 8,729,836 (GRCm39) A207G probably benign Het
Hydin G A 8: 111,308,650 (GRCm39) V3979I probably benign Het
Ighe C T 12: 113,235,413 (GRCm39) W277* probably null Het
Kmt2c G T 5: 25,519,120 (GRCm39) T2330K probably benign Het
Krt6a T A 15: 101,601,170 (GRCm39) K261M probably damaging Het
Lats2 A C 14: 57,960,162 (GRCm39) S161A probably benign Het
Med13l T A 5: 118,892,386 (GRCm39) D1936E probably benign Het
Mipol1 T C 12: 57,352,874 (GRCm39) V71A possibly damaging Het
Mphosph8 A T 14: 56,914,003 (GRCm39) K415* probably null Het
Npepps A G 11: 97,135,252 (GRCm39) probably null Het
Ntn4 A T 10: 93,576,966 (GRCm39) N545Y possibly damaging Het
Or11g1 A C 14: 50,651,132 (GRCm39) M44L probably benign Het
Or1n1b A G 2: 36,780,366 (GRCm39) S165P probably damaging Het
Or2m12 T C 16: 19,105,451 (GRCm39) D14G probably benign Het
Or9i2 A T 19: 13,815,766 (GRCm39) M257K possibly damaging Het
Osbpl2 T A 2: 179,797,136 (GRCm39) V358E possibly damaging Het
Pdcd11 C A 19: 47,108,245 (GRCm39) P1204Q probably damaging Het
Pnliprp2 A C 19: 58,751,806 (GRCm39) S184R probably damaging Het
Ppm1g G T 5: 31,361,872 (GRCm39) R373S probably damaging Het
Rnf130 A G 11: 49,978,264 (GRCm39) D275G probably damaging Het
Rps18-ps5 A G 13: 28,441,694 (GRCm39) I26V probably benign Het
Setd5 T C 6: 113,098,048 (GRCm39) S696P probably damaging Het
Sgip1 A G 4: 102,772,268 (GRCm39) Q219R probably benign Het
Slc1a2 T C 2: 102,566,430 (GRCm39) probably null Het
Slc22a12 T C 19: 6,592,467 (GRCm39) T106A probably benign Het
Slc22a14 A G 9: 119,009,651 (GRCm39) L148P probably damaging Het
Slc2a9 A T 5: 38,539,421 (GRCm39) F375I probably damaging Het
Sorbs3 A T 14: 70,440,396 (GRCm39) D117E probably benign Het
Spata31d1e A G 13: 59,891,412 (GRCm39) L136P probably benign Het
Sphkap G A 1: 83,254,221 (GRCm39) T1176I probably damaging Het
Supt16 A T 14: 52,419,046 (GRCm39) V193D probably damaging Het
Sytl3 A G 17: 6,995,690 (GRCm39) T362A probably damaging Het
Tctn1 T A 5: 122,384,674 (GRCm39) Q410L probably benign Het
Trbc2 T C 6: 41,524,711 (GRCm39) Y133H Het
Ttc28 G A 5: 111,381,207 (GRCm39) D1240N probably benign Het
Vmn2r120 A G 17: 57,832,843 (GRCm39) V112A probably benign Het
Zfp354b A T 11: 50,814,297 (GRCm39) S209R probably benign Het
Zfp362 T C 4: 128,668,399 (GRCm39) H391R probably damaging Het
Other mutations in Hoxa11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02113:Hoxa11 APN 6 52,222,297 (GRCm39) missense probably damaging 1.00
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
R9608:Hoxa11 UTSW 6 52,222,224 (GRCm39) missense probably benign 0.00
Z1177:Hoxa11 UTSW 6 52,222,090 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- AGAAATCTGGACCCGAGACG -3'
(R):5'- ACGTGCTTTCGGTGAGAAC -3'

Sequencing Primer
(F):5'- CGTAGTAAGTACAACTTGGCAAATAC -3'
(R):5'- AACATCGGGTCACATGAC -3'
Posted On 2020-10-20