Incidental Mutation 'R6117:Hoxa10'
ID485155
Institutional Source Beutler Lab
Gene Symbol Hoxa10
Ensembl Gene ENSMUSG00000000938
Gene Namehomeobox A10
SynonymsHox-1.8, Hoxa-10
MMRRC Submission 044266-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R6117 (G1)
Quality Score225.009
Status Not validated
Chromosome6
Chromosomal Location52231197-52240854 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 52234820 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Stop codon at position 39 (R39*)
Ref Sequence ENSEMBL: ENSMUSP00000120276 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000121043] [ENSMUST00000125581]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083509
Predicted Effect probably benign
Transcript: ENSMUST00000121043
SMART Domains Protein: ENSMUSP00000112872
Gene: ENSMUSG00000000938

DomainStartEndE-ValueType
HOX 20 82 1.15e-26 SMART
Predicted Effect probably null
Transcript: ENSMUST00000125581
AA Change: R39*
SMART Domains Protein: ENSMUSP00000120276
Gene: ENSMUSG00000000938
AA Change: R39*

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.4%
Validation Efficiency
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl1 A G 7: 76,698,786 Y625C probably damaging Het
Ankmy1 A G 1: 92,861,274 probably benign Het
Apmap T C 2: 150,600,332 T41A probably benign Het
Cacna1a A G 8: 84,614,721 Y1804C probably damaging Het
Cacna1e A T 1: 154,561,791 I333N possibly damaging Het
Cdsn C A 17: 35,555,034 S153R unknown Het
Celsr1 A T 15: 85,932,411 M1777K probably benign Het
Cmtr1 A G 17: 29,682,165 M249V probably benign Het
Cmya5 A G 13: 93,095,166 L1138P probably damaging Het
Crim1 A C 17: 78,303,088 D324A probably damaging Het
Dmap1 T A 4: 117,675,535 probably null Het
Dnah17 T C 11: 118,119,571 Y307C probably benign Het
Dnah5 T A 15: 28,270,420 L956H probably damaging Het
Enpp3 C T 10: 24,787,852 S537N probably damaging Het
Eya3 T A 4: 132,711,862 L323Q probably damaging Het
Fads3 A T 19: 10,054,267 H226L probably damaging Het
Flrt3 T A 2: 140,660,445 D421V possibly damaging Het
Frmd4a T C 2: 4,602,249 V370A possibly damaging Het
Gapvd1 T C 2: 34,690,459 probably null Het
Gm2178 T C 14: 26,514,840 probably benign Het
Gm5592 A G 7: 41,288,464 N390S probably benign Het
Kcnj1 A G 9: 32,397,182 T281A probably damaging Het
Myo10 T C 15: 25,805,659 Y1709H probably benign Het
Nacad T C 11: 6,599,810 D1127G probably benign Het
Naip1 T A 13: 100,444,737 M1L probably damaging Het
Olfr1331 A T 4: 118,869,144 Y121F probably benign Het
Olfr811 G A 10: 129,801,820 A235V probably damaging Het
Olfr811 C A 10: 129,801,821 A235S probably damaging Het
Pcdhb12 G A 18: 37,435,642 probably benign Het
Pde1b T C 15: 103,521,482 V134A probably damaging Het
Plxnb2 A T 15: 89,158,000 D1600E probably benign Het
Prss54 T A 8: 95,565,458 probably null Het
Ryr3 A T 2: 112,635,396 I4757N probably damaging Het
Slc1a6 T C 10: 78,788,988 Y76H possibly damaging Het
Slco3a1 C T 7: 74,318,506 D489N probably benign Het
Sox15 G T 11: 69,655,890 G173V possibly damaging Het
Stard3 T C 11: 98,372,262 S48P probably damaging Het
Stk32c G A 7: 139,122,923 Q67* probably null Het
Svil T A 18: 5,116,016 W2101R probably damaging Het
Taar7e T A 10: 24,038,529 Y306N probably damaging Het
Tarbp1 T A 8: 126,427,541 M1485L probably benign Het
Togaram1 A G 12: 64,967,487 D504G probably damaging Het
Trrap T C 5: 144,802,961 L1091S possibly damaging Het
Unc80 A G 1: 66,675,067 E2856G possibly damaging Het
Usp47 C T 7: 112,087,932 T699M probably damaging Het
Other mutations in Hoxa10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02900:Hoxa10 APN 6 52232561 missense possibly damaging 0.94
FR4449:Hoxa10 UTSW 6 52234186 missense possibly damaging 0.60
FR4737:Hoxa10 UTSW 6 52234186 missense possibly damaging 0.60
FR4976:Hoxa10 UTSW 6 52234186 missense possibly damaging 0.60
PIT4651001:Hoxa10 UTSW 6 52234897 missense possibly damaging 0.88
R1757:Hoxa10 UTSW 6 52234489 missense probably damaging 0.98
R1889:Hoxa10 UTSW 6 52234492 small deletion probably benign
R1935:Hoxa10 UTSW 6 52234370 missense possibly damaging 0.87
R1940:Hoxa10 UTSW 6 52234370 missense possibly damaging 0.87
R2224:Hoxa10 UTSW 6 52232636 missense probably damaging 1.00
R2225:Hoxa10 UTSW 6 52232636 missense probably damaging 1.00
R2227:Hoxa10 UTSW 6 52232636 missense probably damaging 1.00
R4792:Hoxa10 UTSW 6 52232501 utr 3 prime probably benign
R4822:Hoxa10 UTSW 6 52232589 missense probably damaging 0.99
R7770:Hoxa10 UTSW 6 52234265 missense possibly damaging 0.89
Predicted Primers PCR Primer
(F):5'- TTCTGCGCAAAAGAACACG -3'
(R):5'- AAACTCTGGCTCGGGATTG -3'

Sequencing Primer
(F):5'- TCCAGCCACAGGTCTAGG -3'
(R):5'- TCGGGATTGGCTGCAAGC -3'
Posted On2017-08-16