Incidental Mutation 'R0008:Hoxc11'
ID 7969
Institutional Source Beutler Lab
Gene Symbol Hoxc11
Ensembl Gene ENSMUSG00000001656
Gene Name homeobox C11
Synonyms Hox-3.7
MMRRC Submission 038303-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.825) question?
Stock # R0008 (G1)
Quality Score
Status Validated
Chromosome 15
Chromosomal Location 102862961-102865136 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 102863397 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 146 (V146A)
Ref Sequence ENSEMBL: ENSMUSP00000001701 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001701]
AlphaFold P31313
Predicted Effect probably damaging
Transcript: ENSMUST00000001701
AA Change: V146A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000001701
Gene: ENSMUSG00000001656
AA Change: V146A

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
Meta Mutation Damage Score 0.3053 question?
Coding Region Coverage
  • 1x: 81.0%
  • 3x: 72.4%
  • 10x: 49.2%
  • 20x: 28.4%
Validation Efficiency 90% (82/91)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579F01Rik T C 3: 137,882,346 (GRCm39) K118R possibly damaging Het
Afap1l1 A G 18: 61,889,976 (GRCm39) S87P probably benign Het
Ankrd27 A G 7: 35,303,125 (GRCm39) K196R probably benign Het
Arrdc3 T A 13: 81,039,194 (GRCm39) I75N probably damaging Het
Calcrl T C 2: 84,203,618 (GRCm39) D54G probably benign Het
Cnot1 G T 8: 96,487,969 (GRCm39) D562E probably damaging Het
Cp T A 3: 20,022,287 (GRCm39) Y230N probably damaging Het
Dclre1c T C 2: 3,439,032 (GRCm39) V64A probably damaging Het
Fat2 A T 11: 55,202,075 (GRCm39) L333H probably damaging Het
Il11 T C 7: 4,776,658 (GRCm39) S111G probably benign Het
Ist1 A T 8: 110,403,418 (GRCm39) I273K probably benign Het
Lrp2 T A 2: 69,346,895 (GRCm39) N784Y probably benign Het
Lrp6 T C 6: 134,462,716 (GRCm39) E648G probably damaging Het
Mtbp T A 15: 55,449,889 (GRCm39) probably benign Het
Nat9 A T 11: 115,075,941 (GRCm39) Y27N probably damaging Het
Nipsnap3b T A 4: 53,015,112 (GRCm39) L53Q probably damaging Het
Nlrp3 A T 11: 59,449,274 (GRCm39) H852L probably benign Het
Pax9 A G 12: 56,756,528 (GRCm39) T289A probably benign Het
Pcyt2 A T 11: 120,506,695 (GRCm39) I53N possibly damaging Het
Pdzph1 T A 17: 59,229,756 (GRCm39) probably benign Het
Plekhm2 C T 4: 141,369,704 (GRCm39) probably benign Het
Ppt1 T C 4: 122,742,216 (GRCm39) probably benign Het
Prep T C 10: 44,991,174 (GRCm39) V280A probably benign Het
Proser3 G A 7: 30,239,563 (GRCm39) R514C probably damaging Het
Rbm45 T C 2: 76,208,742 (GRCm39) Y293H probably damaging Het
Sdk2 A G 11: 113,747,581 (GRCm39) L643P probably damaging Het
Slc1a1 G A 19: 28,878,884 (GRCm39) G208S probably benign Het
Slc35b4 A T 6: 34,135,452 (GRCm39) Y287N probably damaging Het
Srgap2 T C 1: 131,283,302 (GRCm39) T260A probably damaging Het
Taf5 A G 19: 47,064,301 (GRCm39) S415G possibly damaging Het
Tdp2 T G 13: 25,025,333 (GRCm39) probably null Het
Tnrc6a G A 7: 122,769,617 (GRCm39) R469H probably benign Het
Tox T A 4: 6,842,411 (GRCm39) M40L probably benign Het
Trib2 A T 12: 15,859,930 (GRCm39) H110Q probably benign Het
Trpa1 A G 1: 14,973,439 (GRCm39) I293T possibly damaging Het
Wdr93 A G 7: 79,408,221 (GRCm39) E234G probably damaging Het
Zfp385b A T 2: 77,246,291 (GRCm39) S245R probably benign Het
Zfyve9 T A 4: 108,575,902 (GRCm39) E393V possibly 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
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
R4342:Hoxc11 UTSW 15 102,863,106 (GRCm39) missense probably damaging 1.00
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
Posted On 2012-11-20