Incidental Mutation 'R0724:Hoxc12'
ID63832
Institutional Source Beutler Lab
Gene Symbol Hoxc12
Ensembl Gene ENSMUSG00000050328
Gene Namehomeobox C12
SynonymsHox-3.8
MMRRC Submission 038906-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R0724 (G1)
Quality Score131
Status Validated
Chromosome15
Chromosomal Location102936757-102938609 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 102937055 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 68 (Y68C)
Ref Sequence ENSEMBL: ENSMUSP00000051003 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055562]
Predicted Effect probably damaging
Transcript: ENSMUST00000055562
AA Change: Y68C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000051003
Gene: ENSMUSG00000050328
AA Change: Y68C

DomainStartEndE-ValueType
low complexity region 101 129 N/A INTRINSIC
low complexity region 144 173 N/A INTRINSIC
HOX 212 274 1.05e-20 SMART
Meta Mutation Damage Score 0.2891 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.2%
Validation Efficiency 100% (62/62)
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. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018F24Rik A G 5: 145,044,763 E136G probably benign Het
Adgre4 T A 17: 55,852,281 S655R probably benign Het
Ak7 T A 12: 105,710,254 V71E probably benign Het
Ank2 C T 3: 126,962,337 R1077H probably damaging Het
Anxa3 A G 5: 96,828,748 T198A possibly damaging Het
Atp1a1 A T 3: 101,592,439 I109N possibly damaging Het
Camta1 A G 4: 151,077,892 I119T probably damaging Het
Carm1 A G 9: 21,587,374 Y504C probably damaging Het
Casp1 C T 9: 5,303,077 P177L probably benign Het
Ccdc122 C A 14: 77,092,077 probably benign Het
Ces1a A G 8: 93,039,513 S158P probably damaging Het
Ces3a T A 8: 105,050,195 D103E possibly damaging Het
Clstn1 A C 4: 149,643,624 D583A possibly damaging Het
Corin A G 5: 72,332,795 probably benign Het
Cryba1 T C 11: 77,719,457 D144G probably damaging Het
Cwf19l2 G T 9: 3,421,377 probably null Het
Dis3l T C 9: 64,307,126 T1027A possibly damaging Het
Dopey2 A G 16: 93,762,325 E653G probably benign Het
Dst A G 1: 34,188,677 I1459V probably benign Het
Dyrk3 T C 1: 131,130,140 T64A probably benign Het
Emp2 C T 16: 10,284,615 C111Y probably benign Het
Enam A G 5: 88,501,994 Y454C probably damaging Het
Fbn1 A T 2: 125,352,064 C1328S probably benign Het
Gata3 T C 2: 9,874,575 T197A probably benign Het
Gm1043 A G 5: 37,187,229 T212A probably damaging Het
Gm15448 T C 7: 3,816,872 N564S possibly damaging Het
H2-Eb1 T C 17: 34,315,032 probably benign Het
Hand1 T C 11: 57,831,680 H36R probably damaging Het
Hmgcs2 C A 3: 98,297,001 Y239* probably null Het
Inpp5a A G 7: 139,516,663 I143V probably benign Het
Klhdc2 C A 12: 69,297,048 F18L probably benign Het
Kpnb1 T C 11: 97,178,304 Y251C probably damaging Het
Lrch4 A T 5: 137,637,308 N315I probably damaging Het
Map3k10 A C 7: 27,668,355 V286G probably damaging Het
Myo7b G A 18: 32,005,549 probably benign Het
Nlrp2 G T 7: 5,319,222 L809I probably damaging Het
Oacyl T C 18: 65,737,825 probably benign Het
Olfr735 A G 14: 50,345,917 V175A possibly damaging Het
Paxbp1 T A 16: 91,036,536 D270V probably damaging Het
Pdia3 G A 2: 121,432,377 G275S probably damaging Het
Plcb3 G A 19: 6,963,392 R359C probably damaging Het
Plcxd3 G A 15: 4,516,868 S118N probably damaging Het
Ptpn14 T C 1: 189,850,947 S664P possibly damaging Het
Sirt1 T C 10: 63,323,973 I443V possibly damaging Het
Slc7a8 G A 14: 54,735,186 probably benign Het
Smim14 A G 5: 65,453,339 probably benign Het
Sost C T 11: 101,966,918 C19Y probably benign Het
Tcaf1 G T 6: 42,675,367 A727E probably damaging Het
Thoc1 T C 18: 9,963,829 L144P probably damaging Het
Tmem132b A T 5: 125,783,421 T577S possibly damaging Het
Tnfrsf21 C T 17: 43,038,213 H239Y probably benign Het
Tshr T C 12: 91,538,286 F666S probably damaging Het
Wdr1 A G 5: 38,540,862 V192A possibly damaging Het
Zfp697 T C 3: 98,428,166 W416R probably damaging Het
Other mutations in Hoxc12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01401:Hoxc12 APN 15 102937320 missense probably benign
IGL01978:Hoxc12 APN 15 102936864 missense probably damaging 1.00
PIT4531001:Hoxc12 UTSW 15 102938420 missense probably damaging 1.00
R3748:Hoxc12 UTSW 15 102938378 missense probably damaging 1.00
R4448:Hoxc12 UTSW 15 102938476 missense probably damaging 1.00
R5151:Hoxc12 UTSW 15 102938446 missense probably damaging 1.00
R6376:Hoxc12 UTSW 15 102937089 missense possibly damaging 0.77
R7034:Hoxc12 UTSW 15 102938360 missense probably damaging 0.99
R7036:Hoxc12 UTSW 15 102938360 missense probably damaging 0.99
R7096:Hoxc12 UTSW 15 102937038 missense possibly damaging 0.79
R7295:Hoxc12 UTSW 15 102938375 missense probably damaging 0.97
X0028:Hoxc12 UTSW 15 102937458 critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- GGCGAGCATAATCTCCTGAATCCTG -3'
(R):5'- GTGTAGTCGTACTTGAAGCCGAGC -3'

Sequencing Primer
(F):5'- ATAATCTCCTGAATCCTGGGTTTGTG -3'
(R):5'- TTGAAGCCGAGCGCAGG -3'
Posted On2013-07-30