Incidental Mutation 'R8012:Hoxc10'
ID 616965
Institutional Source Beutler Lab
Gene Symbol Hoxc10
Ensembl Gene ENSMUSG00000022484
Gene Name homeobox C10
Synonyms Hox-3.6
MMRRC Submission 046052-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.889) question?
Stock # R8012 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 102875231-102880328 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 102875902 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 204 (S204P)
Ref Sequence ENSEMBL: ENSMUSP00000001699 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001699]
AlphaFold P31257
Predicted Effect probably benign
Transcript: ENSMUST00000001699
AA Change: S204P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000001699
Gene: ENSMUSG00000022484
AA Change: S204P

DomainStartEndE-ValueType
low complexity region 143 157 N/A INTRINSIC
HOX 268 330 2.68e-27 SMART
Meta Mutation Damage Score 0.0581 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (44/44)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. The protein level is controlled during cell differentiation and proliferation, which may indicate this protein has a role in origin activation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit skeletal transformations in thoracic, lumbar and sacral vertebrae, alterations in the pelvis and in the bones and ligaments of the hindlimb, femoral defects, decreased lumbar motor neuron and rib number, impairedcoordination, muscle wasting, and obesity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AAdacl4fm3 T A 4: 144,429,972 (GRCm39) D339V possibly damaging Het
Adam19 A G 11: 45,955,873 (GRCm39) E73G possibly damaging Het
Akap13 G A 7: 75,380,213 (GRCm39) R462H probably damaging Het
Alas1 A T 9: 106,123,962 (GRCm39) N65K probably benign Het
Amigo1 T A 3: 108,095,958 (GRCm39) S486T probably damaging Het
Arid1a A G 4: 133,420,174 (GRCm39) L591S unknown Het
Asic1 T C 15: 99,594,532 (GRCm39) V326A possibly damaging Het
Aspm A G 1: 139,385,202 (GRCm39) N282S probably benign Het
Atad5 A G 11: 79,985,066 (GRCm39) D51G probably damaging Het
Brd10 A G 19: 29,695,534 (GRCm39) S1320P possibly damaging Het
Cabp5 A T 7: 13,141,706 (GRCm39) probably null Het
Cdca2 A G 14: 67,914,821 (GRCm39) C813R probably benign Het
Chpf2 A T 5: 24,795,343 (GRCm39) R289W probably damaging Het
Csf1r A T 18: 61,250,136 (GRCm39) N367I possibly damaging Het
Cyp2c66 T C 19: 39,172,369 (GRCm39) F428S probably damaging Het
Dgkb A T 12: 38,189,485 (GRCm39) N296I probably benign Het
Dhcr24 T C 4: 106,443,853 (GRCm39) F481S probably damaging Het
Diaph3 T C 14: 87,274,958 (GRCm39) Y166C probably benign Het
Dnah7b A T 1: 46,282,525 (GRCm39) Q2886L probably damaging Het
Dock6 A T 9: 21,757,807 (GRCm39) V99E probably benign Het
F830045P16Rik T C 2: 129,316,352 (GRCm39) D119G possibly damaging Het
Fasn A T 11: 120,702,428 (GRCm39) L1773Q probably damaging Het
Filip1 A T 9: 79,725,241 (GRCm39) V1126E probably damaging Het
Fnta T C 8: 26,489,535 (GRCm39) I359V probably benign Het
Kif26b T C 1: 178,743,815 (GRCm39) C1304R probably benign Het
Lamc1 T C 1: 153,097,358 (GRCm39) E1562G probably benign Het
Lrguk A G 6: 34,033,038 (GRCm39) N235D probably benign Het
Ly6g6f T C 17: 35,300,060 (GRCm39) R263G possibly damaging Het
Mcrs1 C A 15: 99,147,766 (GRCm39) S47I probably damaging Het
Mx1 T A 16: 97,258,572 (GRCm39) I42F probably damaging Het
Nrp2 C T 1: 62,784,567 (GRCm39) R239C probably damaging Het
Nup188 T A 2: 30,227,277 (GRCm39) C1235S possibly damaging Het
Obsl1 T A 1: 75,469,317 (GRCm39) H1208L probably benign Het
Pcmt1 T C 10: 7,516,527 (GRCm39) D175G probably benign Het
Pcolce T C 5: 137,603,457 (GRCm39) K459E probably benign Het
Pudp T G 18: 50,701,310 (GRCm39) H141P possibly damaging Het
Rock2 T C 12: 16,992,743 (GRCm39) Y171H probably damaging Het
Rwdd1 A C 10: 33,885,198 (GRCm39) probably benign Het
Sbno1 A G 5: 124,522,565 (GRCm39) V1085A probably benign Het
Tie1 A G 4: 118,343,678 (GRCm39) L88P possibly damaging Het
Tmem131 T C 1: 36,847,045 (GRCm39) D1351G probably damaging Het
Tph1 A T 7: 46,306,303 (GRCm39) D219E probably damaging Het
Wdr86 A G 5: 24,935,177 (GRCm39) probably null Het
Other mutations in Hoxc10
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0630:Hoxc10 UTSW 15 102,875,917 (GRCm39) missense probably benign 0.07
R1529:Hoxc10 UTSW 15 102,875,635 (GRCm39) missense probably damaging 1.00
R1771:Hoxc10 UTSW 15 102,875,522 (GRCm39) missense probably damaging 1.00
R2139:Hoxc10 UTSW 15 102,875,912 (GRCm39) missense probably benign 0.19
R2962:Hoxc10 UTSW 15 102,875,735 (GRCm39) missense probably damaging 1.00
R3849:Hoxc10 UTSW 15 102,875,879 (GRCm39) missense probably benign 0.00
R3850:Hoxc10 UTSW 15 102,875,879 (GRCm39) missense probably benign 0.00
R4507:Hoxc10 UTSW 15 102,875,387 (GRCm39) missense probably damaging 1.00
R4650:Hoxc10 UTSW 15 102,875,698 (GRCm39) missense probably benign 0.02
R5640:Hoxc10 UTSW 15 102,875,702 (GRCm39) missense probably benign 0.39
R5951:Hoxc10 UTSW 15 102,875,753 (GRCm39) missense possibly damaging 0.52
R6240:Hoxc10 UTSW 15 102,879,265 (GRCm39) missense probably damaging 1.00
R6899:Hoxc10 UTSW 15 102,875,942 (GRCm39) missense possibly damaging 0.83
R7110:Hoxc10 UTSW 15 102,879,356 (GRCm39) missense probably damaging 1.00
R9123:Hoxc10 UTSW 15 102,875,810 (GRCm39) missense probably benign 0.02
R9368:Hoxc10 UTSW 15 102,879,382 (GRCm39) missense possibly damaging 0.93
R9426:Hoxc10 UTSW 15 102,879,289 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GTACCTGTACCCAGCTACTACC -3'
(R):5'- TGAGTTCCTTAGGCCTCTGC -3'

Sequencing Primer
(F):5'- GCTACTACCGAGCCAGCC -3'
(R):5'- AGTTCCTTAGGCCTCTGCTCAATTC -3'
Posted On 2020-01-23