Incidental Mutation 'R7100:Heca'
ID 550773
Institutional Source Beutler Lab
Gene Symbol Heca
Ensembl Gene ENSMUSG00000039879
Gene Name hdc homolog, cell cycle regulator
Synonyms LOC380629
MMRRC Submission 045192-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.143) question?
Stock # R7100 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 17868612-17948067 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 17915373 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 312 (V312M)
Ref Sequence ENSEMBL: ENSMUSP00000040707 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037879]
AlphaFold Q3V1N5
Predicted Effect probably benign
Transcript: ENSMUST00000037879
AA Change: V312M

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000040707
Gene: ENSMUSG00000039879
AA Change: V312M

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (54/55)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl10 A G 2: 154,552,395 E89G probably damaging Het
Adgrv1 A T 13: 81,270,897 V5993E probably damaging Het
Amdhd1 T C 10: 93,537,074 probably null Het
Amph T C 13: 19,149,841 *691Q probably null Het
Ankrd55 A G 13: 112,356,110 K272E probably benign Het
Arhgef10l C T 4: 140,516,815 V838I possibly damaging Het
Arl2 C A 19: 6,134,744 V160F probably benign Het
BC067074 T A 13: 113,318,967 F516I Het
Catsperb T C 12: 101,446,038 V128A possibly damaging Het
Cdk11b T A 4: 155,625,593 L17H probably damaging Het
Cpsf1 A T 15: 76,596,114 N1391K possibly damaging Het
Cpxm2 C T 7: 132,054,815 A573T probably benign Het
Daxx T C 17: 33,911,442 S144P probably damaging Het
Dpp3 T C 19: 4,918,041 D303G probably damaging Het
Fam126b T A 1: 58,534,494 T384S possibly damaging Het
Fam181a T A 12: 103,315,873 N12K probably damaging Het
Flg2 A T 3: 93,203,711 R1015S unknown Het
Fstl5 A G 3: 76,536,293 H315R probably benign Het
Fut4 A G 9: 14,751,393 S202P probably damaging Het
Gm5114 T C 7: 39,408,284 D637G possibly damaging Het
Gstcd G T 3: 133,084,943 T21K probably benign Het
Herpud1 A G 8: 94,390,847 R144G probably damaging Het
Hrasls5 T A 19: 7,639,558 F313I unknown Het
Ino80 A G 2: 119,374,513 S1511P possibly damaging Het
Irf2bp2 T C 8: 126,591,733 T365A probably benign Het
Klk1 G A 7: 44,229,424 G214E probably damaging Het
Lama3 A T 18: 12,582,644 N1719I possibly damaging Het
Lmna A G 3: 88,484,990 I365T probably damaging Het
Lrp8 C A 4: 107,802,450 A13E possibly damaging Het
Ly75 A G 2: 60,306,434 L1483P probably benign Het
Mid1 A G X: 169,985,077 D407G probably benign Het
Mpl G T 4: 118,457,410 A21E Het
Mus81 C T 19: 5,484,211 G360S probably damaging Het
Nmt2 T A 2: 3,312,913 S250T probably benign Het
Nr1d1 C A 11: 98,771,334 R158L probably damaging Het
Pcgf6 G A 19: 47,050,714 P36S unknown Het
Pcnx2 G A 8: 125,759,114 A1915V probably benign Het
Peak1 A G 9: 56,259,393 V417A probably damaging Het
Phf20l1 A G 15: 66,604,840 N262S probably benign Het
Ppp2r5d A G 17: 46,685,682 V355A probably benign Het
Rasa3 T C 8: 13,586,897 T395A probably benign Het
Rims1 T A 1: 22,346,473 I432F probably benign Het
Rnf123 C T 9: 108,056,639 C1080Y probably damaging Het
Serpina3g T C 12: 104,238,311 probably benign Het
Shank2 T A 7: 144,411,164 D836E possibly damaging Het
Slc24a5 A C 2: 125,080,671 S118R probably damaging Het
Smg1 G T 7: 118,184,520 H1048N unknown Het
Specc1l T G 10: 75,245,495 S242A probably benign Het
Tagap1 A T 17: 6,956,712 L195Q possibly damaging Het
Tmem57 T C 4: 134,806,660 D550G probably damaging Het
Trpc3 C A 3: 36,650,067 E580D probably benign Het
Ttn A T 2: 76,710,822 V33940E probably benign Het
Upp2 G T 2: 58,791,805 R318L probably benign Het
Vezt T A 10: 93,996,933 E205D probably benign Het
Vmn1r177 A G 7: 23,866,110 F114L probably benign Het
Vmn2r53 C A 7: 12,581,586 E769* probably null Het
Vnn3 T C 10: 23,865,942 Y382H probably damaging Het
Other mutations in Heca
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01544:Heca APN 10 17915967 missense probably damaging 1.00
IGL01971:Heca APN 10 17915414 missense probably damaging 1.00
E0374:Heca UTSW 10 17908176 missense probably damaging 1.00
R0089:Heca UTSW 10 17908100 missense probably damaging 0.99
R0218:Heca UTSW 10 17915715 missense probably benign 0.22
R0608:Heca UTSW 10 17915291 missense possibly damaging 0.86
R4131:Heca UTSW 10 17902239 missense probably damaging 1.00
R4132:Heca UTSW 10 17902239 missense probably damaging 1.00
R4674:Heca UTSW 10 17915309 missense probably benign 0.30
R4675:Heca UTSW 10 17915309 missense probably benign 0.30
R4736:Heca UTSW 10 17915187 nonsense probably null
R4789:Heca UTSW 10 17908147 nonsense probably null
R4819:Heca UTSW 10 17908072 missense probably damaging 1.00
R5372:Heca UTSW 10 17915139 missense probably damaging 1.00
R5412:Heca UTSW 10 17902296 missense probably damaging 1.00
R5737:Heca UTSW 10 17915714 missense possibly damaging 0.76
R6321:Heca UTSW 10 17915243 splice site probably null
R6630:Heca UTSW 10 17908108 nonsense probably null
R7381:Heca UTSW 10 17915524 nonsense probably null
R7664:Heca UTSW 10 17902370 missense probably damaging 1.00
R8293:Heca UTSW 10 17902263 missense probably damaging 1.00
R8677:Heca UTSW 10 17915676 missense probably benign 0.10
R8967:Heca UTSW 10 17914990 critical splice donor site probably null
Predicted Primers
Posted On 2019-05-15