Incidental Mutation 'R0218:Heca'
ID 33668
Institutional Source Beutler Lab
Gene Symbol Heca
Ensembl Gene ENSMUSG00000039879
Gene Name hdc homolog, cell cycle regulator
Synonyms LOC380629
MMRRC Submission 038467-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.126) question?
Stock # R0218 (G1)
Quality Score 220
Status Validated
Chromosome 10
Chromosomal Location 17774788-17823785 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 17791463 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 198 (M198V)
Ref Sequence ENSEMBL: ENSMUSP00000040707 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037879]
AlphaFold Q3V1N5
Predicted Effect probably benign
Transcript: ENSMUST00000037879
AA Change: M198V

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000040707
Gene: ENSMUSG00000039879
AA Change: M198V

DomainStartEndE-ValueType
SCOP:d1gkub1 29 61 8e-3 SMART
Pfam:HECA 94 192 2.8e-42 PFAM
Pfam:Headcase 335 535 2.8e-86 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000217949
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218758
Meta Mutation Damage Score 0.0600 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.7%
Validation Efficiency 98% (53/54)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the homolog of the Drosophila headcase protein, a highly basic, cytoplasmic protein that regulates the re-entry of imaginal cells into the mitotic cycle during adult morphogenesis. In Drosophila, the encoded protein also inhibits terminal branching of neighboring cells during tracheal development. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l T G 8: 44,079,477 (GRCm39) Q249P probably benign Het
Adgrv1 C T 13: 81,255,017 (GRCm39) probably null Het
Ccdc110 A G 8: 46,387,761 (GRCm39) probably benign Het
Cd200r1 T A 16: 44,609,106 (GRCm39) probably benign Het
Cdkl1 A T 12: 69,836,809 (GRCm39) D40E probably benign Het
Cdx1 A G 18: 61,153,436 (GRCm39) probably benign Het
Cenpp T A 13: 49,801,108 (GRCm39) K103N possibly damaging Het
Cep162 A G 9: 87,093,862 (GRCm39) Y839H possibly damaging Het
Chac1 T A 2: 119,183,941 (GRCm39) L181* probably null Het
Ciapin1 G T 8: 95,554,938 (GRCm39) Q173K probably damaging Het
Cmklr2 T A 1: 63,222,690 (GRCm39) N182Y probably benign Het
Dgcr2 A G 16: 17,667,650 (GRCm39) C270R probably damaging Het
Dlc1 A G 8: 37,317,383 (GRCm39) S431P probably benign Het
Efcab12 T C 6: 115,791,611 (GRCm39) probably benign Het
Ehbp1 A T 11: 22,181,992 (GRCm39) probably benign Het
Enpp3 A T 10: 24,652,767 (GRCm39) V730D possibly damaging Het
Fam174b A G 7: 73,390,512 (GRCm39) T88A probably benign Het
Fancl A G 11: 26,421,337 (GRCm39) K364E probably benign Het
Fbp2 A T 13: 63,001,862 (GRCm39) F118I probably damaging Het
Galc A G 12: 98,188,906 (GRCm39) Y402H probably damaging Het
Gga2 T C 7: 121,598,123 (GRCm39) N324D possibly damaging Het
Hc G T 2: 34,918,086 (GRCm39) F732L probably damaging Het
Herc6 C A 6: 57,596,586 (GRCm39) H509N probably benign Het
Irf2bpl A T 12: 86,929,398 (GRCm39) M425K probably benign Het
Mael C T 1: 166,066,159 (GRCm39) G26D probably damaging Het
Map1a A G 2: 121,135,906 (GRCm39) T2241A probably benign Het
Mcc C G 18: 44,652,583 (GRCm39) probably benign Het
Mdga2 A G 12: 66,701,894 (GRCm39) S505P probably damaging Het
Mdm1 A G 10: 117,992,783 (GRCm39) probably benign Het
Mex3b A T 7: 82,518,312 (GRCm39) E209V probably damaging Het
Mrgprx3-ps T C 7: 46,959,154 (GRCm39) E279G possibly damaging Het
Ms4a20 A T 19: 11,093,801 (GRCm39) Y10* probably null Het
Nfe2l1 A T 11: 96,718,439 (GRCm39) L32Q probably damaging Het
Npas1 C T 7: 16,195,818 (GRCm39) V285I probably benign Het
Or5e1 T A 7: 108,354,781 (GRCm39) C239* probably null Het
Or5h19 C T 16: 58,856,456 (GRCm39) V215I probably benign Het
Or9i14 T C 19: 13,792,342 (GRCm39) N204S probably benign Het
Osr1 A G 12: 9,629,639 (GRCm39) T171A probably benign Het
Ppp3cb A T 14: 20,574,044 (GRCm39) C265S probably damaging Het
Pramel27 A G 4: 143,578,401 (GRCm39) I220M probably damaging Het
Sephs1 A G 2: 4,904,371 (GRCm39) T250A probably benign Het
Simc1 T C 13: 54,674,417 (GRCm39) Y922H probably damaging Het
Slc25a39 A G 11: 102,297,056 (GRCm39) F56L probably benign Het
Smg8 A G 11: 86,976,948 (GRCm39) L211P probably damaging Het
Sncaip A G 18: 53,040,400 (GRCm39) S805G probably benign Het
Sra1 T C 18: 36,809,662 (GRCm39) probably benign Het
Tas2r104 T G 6: 131,662,055 (GRCm39) D218A probably damaging Het
Unc45b A G 11: 82,802,686 (GRCm39) probably benign Het
Unc79 A G 12: 103,075,040 (GRCm39) probably null Het
Washc2 T A 6: 116,225,007 (GRCm39) L785* probably null Het
Zfp30 A G 7: 29,493,063 (GRCm39) E439G probably damaging Het
Zfp518a A G 19: 40,901,072 (GRCm39) T334A probably benign Het
Other mutations in Heca
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01544:Heca APN 10 17,791,715 (GRCm39) missense probably damaging 1.00
IGL01971:Heca APN 10 17,791,162 (GRCm39) missense probably damaging 1.00
E0374:Heca UTSW 10 17,783,924 (GRCm39) missense probably damaging 1.00
R0089:Heca UTSW 10 17,783,848 (GRCm39) missense probably damaging 0.99
R0608:Heca UTSW 10 17,791,039 (GRCm39) missense possibly damaging 0.86
R4131:Heca UTSW 10 17,777,987 (GRCm39) missense probably damaging 1.00
R4132:Heca UTSW 10 17,777,987 (GRCm39) missense probably damaging 1.00
R4674:Heca UTSW 10 17,791,057 (GRCm39) missense probably benign 0.30
R4675:Heca UTSW 10 17,791,057 (GRCm39) missense probably benign 0.30
R4736:Heca UTSW 10 17,790,935 (GRCm39) nonsense probably null
R4789:Heca UTSW 10 17,783,895 (GRCm39) nonsense probably null
R4819:Heca UTSW 10 17,783,820 (GRCm39) missense probably damaging 1.00
R5372:Heca UTSW 10 17,790,887 (GRCm39) missense probably damaging 1.00
R5412:Heca UTSW 10 17,778,044 (GRCm39) missense probably damaging 1.00
R5737:Heca UTSW 10 17,791,462 (GRCm39) missense possibly damaging 0.76
R6321:Heca UTSW 10 17,790,991 (GRCm39) splice site probably null
R6630:Heca UTSW 10 17,783,856 (GRCm39) nonsense probably null
R7100:Heca UTSW 10 17,791,121 (GRCm39) missense probably benign 0.00
R7381:Heca UTSW 10 17,791,272 (GRCm39) nonsense probably null
R7664:Heca UTSW 10 17,778,118 (GRCm39) missense probably damaging 1.00
R8293:Heca UTSW 10 17,778,011 (GRCm39) missense probably damaging 1.00
R8677:Heca UTSW 10 17,791,424 (GRCm39) missense probably benign 0.10
R8967:Heca UTSW 10 17,790,738 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- GCAGAACCGACTGTCTTTTCCTGG -3'
(R):5'- GTGTGCAACAATGAGCACTGTCC -3'

Sequencing Primer
(F):5'- CCTGGGAGTTCTGCCTGTC -3'
(R):5'- GCATCTTCAGTGCTTCTACGAG -3'
Posted On 2013-05-09