Incidental Mutation 'R2225:Hoxa10'
ID 239661
Institutional Source Beutler Lab
Gene Symbol Hoxa10
Ensembl Gene ENSMUSG00000000938
Gene Name homeobox A10
Synonyms Hox-1.8, Hoxa-10
MMRRC Submission 040226-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2225 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 52208177-52217658 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 52209616 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 52 (E52G)
Ref Sequence ENSEMBL: ENSMUSP00000112872 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000121043] [ENSMUST00000125581]
AlphaFold P31310
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083509
Predicted Effect probably damaging
Transcript: ENSMUST00000121043
AA Change: E52G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112872
Gene: ENSMUSG00000000938
AA Change: E52G

DomainStartEndE-ValueType
HOX 20 82 1.15e-26 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000125581
AA Change: E374G

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000120276
Gene: ENSMUSG00000000938
AA Change: E374G

DomainStartEndE-ValueType
low complexity region 36 63 N/A INTRINSIC
low complexity region 91 107 N/A INTRINSIC
low complexity region 134 161 N/A INTRINSIC
low complexity region 228 239 N/A INTRINSIC
low complexity region 296 314 N/A INTRINSIC
HOX 342 404 1.15e-26 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126402
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142611
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154641
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156540
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174115
Meta Mutation Damage Score 0.9456 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (56/56)
MGI Phenotype FUNCTION: In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of a cluster on chromosome 6 and encodes a DNA-binding transcription factor that may regulate gene expression, morphogenesis, and differentiation. More specifically, it may function in fertility, embryo viability, and regulation of hematopoietic lineage commitment. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes are viable with homeotic transformation of vertebrae and lumbar spinal nerves, misshapen femurs and degeneration of knee articulation. Males show cryptorchidism and testes dysmorphology. Females have uterine defects affecting embryo viability. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb1 A C 6: 88,813,349 (GRCm39) L439R probably damaging Het
Adcy10 A G 1: 165,345,829 (GRCm39) T293A probably damaging Het
Aen C A 7: 78,552,199 (GRCm39) T15K probably benign Het
Aggf1 A G 13: 95,507,354 (GRCm39) S144P probably damaging Het
Akap9 A T 5: 4,127,271 (GRCm39) R3706S probably damaging Het
Btd A G 14: 31,389,017 (GRCm39) D246G probably benign Het
Ccdc33 A G 9: 57,989,305 (GRCm39) S123P probably damaging Het
Cep152 T C 2: 125,423,704 (GRCm39) E899G probably damaging Het
Cpsf6 A T 10: 117,198,941 (GRCm39) probably benign Het
Crybg3 A G 16: 59,375,041 (GRCm39) I2071T probably damaging Het
Cwc22 T A 2: 77,738,495 (GRCm39) probably benign Het
Ddah2 T A 17: 35,279,187 (GRCm39) I16N probably damaging Het
Dld T G 12: 31,391,448 (GRCm39) M123L probably benign Het
Eif5b A T 1: 38,058,304 (GRCm39) K202I unknown Het
Gm6430 T C 1: 96,953,441 (GRCm39) noncoding transcript Het
Hdac9 C T 12: 34,457,801 (GRCm39) V251I probably benign Het
Hspa4 C T 11: 53,177,760 (GRCm39) V117M probably benign Het
Htra4 T C 8: 25,515,736 (GRCm39) D434G probably benign Het
Itgb3 A G 11: 104,556,336 (GRCm39) M726V probably benign Het
Itih1 A G 14: 30,651,534 (GRCm39) V886A possibly damaging Het
Kdm1b TCATTGTCC TCATTGTCCATTGTCC 13: 47,217,564 (GRCm39) probably null Het
Kpna1 G A 16: 35,851,591 (GRCm39) A392T probably damaging Het
Limk1 G T 5: 134,690,410 (GRCm39) probably null Het
Lonrf1 T C 8: 36,703,252 (GRCm39) D308G probably damaging Het
Muc4 A T 16: 32,576,265 (GRCm39) probably benign Het
Muc4 G A 16: 32,587,316 (GRCm39) C2719Y possibly damaging Het
Mvb12b G A 2: 33,730,211 (GRCm39) T60I possibly damaging Het
Myh2 C T 11: 67,084,555 (GRCm39) T1698M probably benign Het
Naalad2 A T 9: 18,287,829 (GRCm39) V267E possibly damaging Het
Nkpd1 A T 7: 19,253,745 (GRCm39) Y37F probably benign Het
Or10d5 T C 9: 39,861,833 (GRCm39) K78R possibly damaging Het
Or2l5 T C 16: 19,333,996 (GRCm39) H130R probably benign Het
Or8g33 T C 9: 39,337,915 (GRCm39) I151V probably benign Het
Plekhg2 G A 7: 28,059,760 (GRCm39) P1190S probably benign Het
Reck A G 4: 43,922,837 (GRCm39) T371A probably benign Het
Rnf185 T C 11: 3,382,445 (GRCm39) D44G probably damaging Het
Rpgrip1l T C 8: 91,948,095 (GRCm39) E1196G probably benign Het
Rundc1 A G 11: 101,322,170 (GRCm39) probably benign Het
Sf3b3 T C 8: 111,541,205 (GRCm39) Y970C probably damaging Het
Sfxn1 A G 13: 54,239,536 (GRCm39) T20A possibly damaging Het
Shprh T C 10: 11,037,979 (GRCm39) probably benign Het
Spata31d1a T A 13: 59,851,529 (GRCm39) I200L probably benign Het
Srsf6 G A 2: 162,773,619 (GRCm39) S10N probably damaging Het
Tbxa2r A G 10: 81,168,983 (GRCm39) Y224C probably benign Het
Tlr5 A G 1: 182,799,941 (GRCm39) probably benign Het
Tmem270 A G 5: 134,935,492 (GRCm39) L21P probably damaging Het
Tmtc2 T C 10: 105,206,218 (GRCm39) E359G probably benign Het
Tnn A T 1: 159,975,035 (GRCm39) C131S probably damaging Het
Tnnt2 A G 1: 135,771,529 (GRCm39) probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tph1 A G 7: 46,314,598 (GRCm39) probably null Het
Wiz C T 17: 32,575,899 (GRCm39) V836M probably damaging Het
Zfp451 T A 1: 33,809,988 (GRCm39) probably benign Het
Zfp738 A G 13: 67,818,431 (GRCm39) F520S probably damaging Het
Other mutations in Hoxa10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02900:Hoxa10 APN 6 52,209,541 (GRCm39) missense possibly damaging 0.94
FR4449:Hoxa10 UTSW 6 52,211,166 (GRCm39) missense possibly damaging 0.60
FR4737:Hoxa10 UTSW 6 52,211,166 (GRCm39) missense possibly damaging 0.60
FR4976:Hoxa10 UTSW 6 52,211,166 (GRCm39) missense possibly damaging 0.60
PIT4651001:Hoxa10 UTSW 6 52,211,877 (GRCm39) missense possibly damaging 0.88
R1757:Hoxa10 UTSW 6 52,211,469 (GRCm39) missense probably damaging 0.98
R1889:Hoxa10 UTSW 6 52,211,472 (GRCm39) small deletion probably benign
R1935:Hoxa10 UTSW 6 52,211,350 (GRCm39) missense possibly damaging 0.87
R1940:Hoxa10 UTSW 6 52,211,350 (GRCm39) missense possibly damaging 0.87
R2224:Hoxa10 UTSW 6 52,209,616 (GRCm39) missense probably damaging 1.00
R2227:Hoxa10 UTSW 6 52,209,616 (GRCm39) missense probably damaging 1.00
R4792:Hoxa10 UTSW 6 52,209,481 (GRCm39) utr 3 prime probably benign
R4822:Hoxa10 UTSW 6 52,209,569 (GRCm39) missense probably damaging 0.99
R6117:Hoxa10 UTSW 6 52,211,800 (GRCm39) nonsense probably null
R7770:Hoxa10 UTSW 6 52,211,245 (GRCm39) missense possibly damaging 0.89
R9306:Hoxa10 UTSW 6 52,209,635 (GRCm39) missense possibly damaging 0.88
R9526:Hoxa10 UTSW 6 52,211,334 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- GCCCATTCAGGACTTGACAC -3'
(R):5'- AGTGGCCTCGACTTAACCTTC -3'

Sequencing Primer
(F):5'- TTCAGGACTTGACACTGAGAAAGATC -3'
(R):5'- CCCCTCTGTATTCTCTTAAACTCCAG -3'
Posted On 2014-10-15