Incidental Mutation 'R4448:Hoxc12'
ID 328858
Institutional Source Beutler Lab
Gene Symbol Hoxc12
Ensembl Gene ENSMUSG00000050328
Gene Name homeobox C12
Synonyms Hox-3.8
MMRRC Submission 041709-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4448 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 102845261-102847044 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 102846911 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 268 (K268E)
Ref Sequence ENSEMBL: ENSMUSP00000051003 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055562]
AlphaFold Q8K5B8
Predicted Effect probably damaging
Transcript: ENSMUST00000055562
AA Change: K268E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000051003
Gene: ENSMUSG00000050328
AA Change: K268E

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 0.7826 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 94% (49/52)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3930402G23Rik T A 8: 10,976,129 (GRCm39) noncoding transcript Het
A1cf A T 19: 31,923,262 (GRCm39) T513S probably benign Het
Acaca A T 11: 84,153,318 (GRCm39) I909F probably damaging Het
Adgb T C 10: 10,266,569 (GRCm39) I980V probably benign Het
Akap13 T A 7: 75,392,508 (GRCm39) F2450L probably damaging Het
Alg11 C A 8: 22,558,095 (GRCm39) A469E probably benign Het
Asb8 A G 15: 98,039,211 (GRCm39) V63A possibly damaging Het
Atp6v1b2 T A 8: 69,554,674 (GRCm39) D126E probably benign Het
BC048562 T A 9: 108,315,723 (GRCm39) L43Q probably damaging Het
Ctcf A T 8: 106,406,925 (GRCm39) probably benign Het
Efs A G 14: 55,157,649 (GRCm39) S128P probably damaging Het
Epg5 T A 18: 78,005,676 (GRCm39) M722K probably damaging Het
Ezr T C 17: 7,020,473 (GRCm39) I203V probably benign Het
F5 A T 1: 164,026,468 (GRCm39) N1680I possibly damaging Het
Fcna A G 2: 25,515,488 (GRCm39) F194L probably damaging Het
Fut7 A G 2: 25,314,951 (GRCm39) T70A probably benign Het
Galnt2 A G 8: 125,022,116 (GRCm39) D14G probably benign Het
Gpr4 G A 7: 18,956,926 (GRCm39) A283T probably damaging Het
Herc2 T C 7: 55,877,640 (GRCm39) L4569P probably damaging Het
Hhip C T 8: 80,770,574 (GRCm39) probably null Het
Iqcm T C 8: 76,356,394 (GRCm39) S176P probably damaging Het
Kansl1l A G 1: 66,777,318 (GRCm39) S605P probably damaging Het
Kcnh4 A G 11: 100,646,733 (GRCm39) F198L probably benign Het
Kmt2e T C 5: 23,669,788 (GRCm39) F92L possibly damaging Het
Lmo2 T C 2: 103,811,407 (GRCm39) Y147H probably damaging Het
Mycbp2 T C 14: 103,425,938 (GRCm39) I2396V possibly damaging Het
Nckap5 G A 1: 125,953,463 (GRCm39) Q1030* probably null Het
Pag1 T C 3: 9,764,526 (GRCm39) E209G probably benign Het
Pramel30 A C 4: 144,059,255 (GRCm39) H322P probably damaging Het
Pttg1 A T 11: 43,315,517 (GRCm39) probably benign Het
Rab38 T G 7: 88,139,833 (GRCm39) D167E probably benign Het
Rbm26 A T 14: 105,388,986 (GRCm39) F302I probably damaging Het
Rpap2 G A 5: 107,749,661 (GRCm39) V62I possibly damaging Het
Sec23b A G 2: 144,401,171 (GRCm39) N11D probably benign Het
Sipa1l1 G A 12: 82,388,524 (GRCm39) G250D probably benign Het
Sipa1l2 A T 8: 126,219,094 (GRCm39) V81D probably damaging Het
Slc15a4 A G 5: 127,681,600 (GRCm39) probably null Het
Sqstm1 A G 11: 50,093,866 (GRCm39) probably benign Het
Taf4 A G 2: 179,577,764 (GRCm39) L519P possibly damaging Het
Tdrd6 C T 17: 43,940,626 (GRCm39) G141S probably benign Het
Urb1 C T 16: 90,566,282 (GRCm39) V1502I possibly damaging Het
Vmn1r222 A C 13: 23,416,463 (GRCm39) V250G probably benign Het
Vmn1r222 G A 13: 23,416,830 (GRCm39) L128F probably damaging Het
Wwc2 A G 8: 48,321,702 (GRCm39) Y471H unknown Het
Other mutations in Hoxc12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01401:Hoxc12 APN 15 102,845,755 (GRCm39) missense probably benign
IGL01978:Hoxc12 APN 15 102,845,299 (GRCm39) missense probably damaging 1.00
PIT4531001:Hoxc12 UTSW 15 102,846,855 (GRCm39) missense probably damaging 1.00
R0724:Hoxc12 UTSW 15 102,845,490 (GRCm39) missense probably damaging 0.99
R3748:Hoxc12 UTSW 15 102,846,813 (GRCm39) missense probably damaging 1.00
R5151:Hoxc12 UTSW 15 102,846,881 (GRCm39) missense probably damaging 1.00
R6376:Hoxc12 UTSW 15 102,845,524 (GRCm39) missense possibly damaging 0.77
R7034:Hoxc12 UTSW 15 102,846,795 (GRCm39) missense probably damaging 0.99
R7036:Hoxc12 UTSW 15 102,846,795 (GRCm39) missense probably damaging 0.99
R7096:Hoxc12 UTSW 15 102,845,473 (GRCm39) missense possibly damaging 0.79
R7295:Hoxc12 UTSW 15 102,846,810 (GRCm39) missense probably damaging 0.97
R8789:Hoxc12 UTSW 15 102,846,732 (GRCm39) missense probably benign 0.00
X0028:Hoxc12 UTSW 15 102,845,893 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TGATCCTCTAGCCAACCCTG -3'
(R):5'- TTTCCCATAACCTCAGCGGG -3'

Sequencing Primer
(F):5'- TGGTACCCGATCCACAGC -3'
(R):5'- GCCTTCTCCGGCTAGGTTAG -3'
Posted On 2015-07-21