Incidental Mutation 'R4342:Hoxc11'
ID 324202
Institutional Source Beutler Lab
Gene Symbol Hoxc11
Ensembl Gene ENSMUSG00000001656
Gene Name homeobox C11
Synonyms Hox-3.7
MMRRC Submission 041100-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.825) question?
Stock # R4342 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 102862961-102865136 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 102863106 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Phenylalanine at position 49 (S49F)
Ref Sequence ENSEMBL: ENSMUSP00000001701 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001701]
AlphaFold P31313
Predicted Effect probably damaging
Transcript: ENSMUST00000001701
AA Change: S49F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000001701
Gene: ENSMUSG00000001656
AA Change: S49F

DomainStartEndE-ValueType
Pfam:DUF3528 42 178 5.2e-52 PFAM
low complexity region 193 204 N/A INTRINSIC
low complexity region 209 216 N/A INTRINSIC
HOX 232 294 1.66e-23 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183814
Meta Mutation Damage Score 0.2572 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 99% (68/69)
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 product of this gene binds to a promoter element of the lactase-phlorizin hydrolase. It also may play a role in early intestinal development. An alternatively spliced variant encoding a shorter isoform has been described but its full-length nature has not been determined. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 T C 17: 45,827,421 (GRCm39) C488R probably benign Het
Adamts19 A T 18: 59,075,572 (GRCm39) H489L probably damaging Het
Ahnak T C 19: 8,989,447 (GRCm39) V3577A possibly damaging Het
Ajm1 A G 2: 25,469,120 (GRCm39) Y264H possibly damaging Het
Arhgap44 G A 11: 64,902,887 (GRCm39) R401* probably null Het
Cbx3-ps2 T C 13: 65,707,502 (GRCm39) noncoding transcript Het
Ccdc174 T A 6: 91,862,337 (GRCm39) L86* probably null Het
Cd38 A C 5: 44,026,431 (GRCm39) I72L probably benign Het
Cers4 T C 8: 4,571,223 (GRCm39) L264P probably damaging Het
Cldn23 A G 8: 36,292,652 (GRCm39) S279P probably benign Het
Cth T A 3: 157,630,613 (GRCm39) T19S probably damaging Het
Dnajc22 T A 15: 99,002,345 (GRCm39) L330* probably null Het
Epas1 G A 17: 87,131,228 (GRCm39) C336Y probably damaging Het
Evi5l A C 8: 4,233,492 (GRCm39) probably benign Het
Fbxl2 A T 9: 113,814,374 (GRCm39) H272Q probably benign Het
Fgd3 C T 13: 49,427,185 (GRCm39) probably null Het
Fhdc1 C A 3: 84,352,133 (GRCm39) V1031F probably benign Het
Fscn1 T C 5: 142,957,776 (GRCm39) Y308H probably damaging Het
Garin3 A G 11: 46,298,043 (GRCm39) D449G possibly damaging Het
Gm5878 G A 6: 85,102,633 (GRCm39) R31* probably null Het
Gpatch2l T C 12: 86,307,453 (GRCm39) V277A probably benign Het
Greb1l T A 18: 10,544,561 (GRCm39) M1385K probably benign Het
Grin2a A G 16: 9,471,453 (GRCm39) I605T possibly damaging Het
Igf2r C T 17: 12,928,398 (GRCm39) E982K possibly damaging Het
Ighv10-3 A T 12: 114,487,124 (GRCm39) M99K possibly damaging Het
Itgb4 A T 11: 115,879,555 (GRCm39) T614S probably benign Het
Kcnv1 G A 15: 44,977,840 (GRCm39) T66M probably damaging Het
Mast4 A G 13: 102,910,756 (GRCm39) V461A probably damaging Het
Mcts2 G A 2: 152,529,584 (GRCm39) V132M probably damaging Het
Mical3 C A 6: 120,911,799 (GRCm39) E1083* probably null Het
Nbeal2 A G 9: 110,460,861 (GRCm39) probably benign Het
Nek4 T C 14: 30,675,863 (GRCm39) V66A probably damaging Het
Nfasc A G 1: 132,559,443 (GRCm39) F229S probably damaging Het
Nhsl1 T C 10: 18,402,437 (GRCm39) F1221S probably damaging Het
Nr1d1 T G 11: 98,662,640 (GRCm39) K118Q probably damaging Het
Ntaq1 T C 15: 58,016,110 (GRCm39) S120P probably benign Het
Ntm T C 9: 29,020,727 (GRCm39) E164G probably damaging Het
Or51a7 A G 7: 102,615,231 (GRCm39) N308S probably benign Het
Parp1 G T 1: 180,414,894 (GRCm39) A411S probably benign Het
Pds5b A G 5: 150,724,319 (GRCm39) T1301A probably benign Het
Pkhd1 A G 1: 20,128,841 (GRCm39) V3954A probably benign Het
Pkp4 A T 2: 59,180,952 (GRCm39) K739I probably damaging Het
Pla2g4e T C 2: 120,016,927 (GRCm39) probably benign Het
Plod3 G C 5: 137,017,000 (GRCm39) A50P probably benign Het
Ralgds T C 2: 28,442,107 (GRCm39) L96P probably damaging Het
Rbm6 A T 9: 107,724,446 (GRCm39) probably benign Het
Scp2d1 T C 2: 144,666,087 (GRCm39) L142P probably damaging Het
Setd5 AT ATT 6: 113,088,281 (GRCm39) probably benign Het
Sgf29 G A 7: 126,270,949 (GRCm39) C143Y probably damaging Het
Slc22a12 A G 19: 6,591,129 (GRCm39) I156T probably benign Het
Stambpl1 A G 19: 34,211,446 (GRCm39) Q169R probably benign Het
Tex2 T C 11: 106,457,832 (GRCm39) probably benign Het
Trip11 A T 12: 101,850,575 (GRCm39) I878N probably damaging Het
Ttf1 C T 2: 28,955,488 (GRCm39) S284L probably benign Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ugt2b5 A T 5: 87,287,582 (GRCm39) V195E probably damaging Het
Vmn1r14 T A 6: 57,210,808 (GRCm39) Y85N probably benign Het
Zfp131 C T 13: 120,237,554 (GRCm39) R268H probably damaging Het
Other mutations in Hoxc11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03122:Hoxc11 APN 15 102,863,390 (GRCm39) missense probably damaging 1.00
IGL03261:Hoxc11 APN 15 102,863,178 (GRCm39) missense probably benign 0.36
R0008:Hoxc11 UTSW 15 102,863,397 (GRCm39) missense probably damaging 1.00
R0008:Hoxc11 UTSW 15 102,863,397 (GRCm39) missense probably damaging 1.00
R0157:Hoxc11 UTSW 15 102,863,436 (GRCm39) missense probably damaging 1.00
R1055:Hoxc11 UTSW 15 102,863,270 (GRCm39) missense probably damaging 1.00
R1681:Hoxc11 UTSW 15 102,863,591 (GRCm39) missense possibly damaging 0.92
R6285:Hoxc11 UTSW 15 102,863,178 (GRCm39) missense probably benign 0.36
R6558:Hoxc11 UTSW 15 102,863,301 (GRCm39) missense probably damaging 1.00
R7211:Hoxc11 UTSW 15 102,863,487 (GRCm39) missense possibly damaging 0.82
R8346:Hoxc11 UTSW 15 102,863,186 (GRCm39) missense possibly damaging 0.93
R8348:Hoxc11 UTSW 15 102,863,186 (GRCm39) missense possibly damaging 0.93
R8423:Hoxc11 UTSW 15 102,863,177 (GRCm39) missense possibly damaging 0.75
Predicted Primers PCR Primer
(F):5'- CGCTAGATCGGGTCCAAAAC -3'
(R):5'- TTTTCATGAGGATCTCAGTGACTG -3'

Sequencing Primer
(F):5'- GTCCAAAACCTCCAGCCGG -3'
(R):5'- TCTCAGTGACTGTGGAAGGAG -3'
Posted On 2015-06-24