Incidental Mutation 'R4694:Hcfc2'
ID 355573
Institutional Source Beutler Lab
Gene Symbol Hcfc2
Ensembl Gene ENSMUSG00000020246
Gene Name host cell factor C2
Synonyms 1700129L13Rik, fkls
MMRRC Submission 041945-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.194) question?
Stock # R4694 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 82531994-82578262 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 82559534 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 382 (T382M)
Ref Sequence ENSEMBL: ENSMUSP00000020478 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020478] [ENSMUST00000160681]
AlphaFold Q9D968
Predicted Effect probably damaging
Transcript: ENSMUST00000020478
AA Change: T382M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020478
Gene: ENSMUSG00000020246
AA Change: T382M

DomainStartEndE-ValueType
Pfam:Kelch_1 22 60 2.1e-6 PFAM
Pfam:Kelch_5 68 106 1.1e-6 PFAM
Pfam:Kelch_3 81 135 8.8e-7 PFAM
Pfam:Kelch_5 186 230 8.4e-7 PFAM
Pfam:Kelch_3 206 253 1.6e-11 PFAM
Pfam:Kelch_1 244 302 7.5e-9 PFAM
Pfam:Kelch_3 254 323 3.4e-7 PFAM
Pfam:Kelch_5 312 356 1.4e-6 PFAM
FN3 357 591 8.43e-9 SMART
FN3 607 703 6.06e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000160681
SMART Domains Protein: ENSMUSP00000124489
Gene: ENSMUSG00000020246

DomainStartEndE-ValueType
FN3 52 131 1.22e1 SMART
FN3 147 243 6.06e-1 SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of two proteins which interact with VP16, a herpes simplex virus protein that initiates virus infection. Both the encoded protein and the original Herpes host cell factor interact with VP16 through a beta-propeller domain. The original Herpes host cell factor, however, is effective at initiating viral infection while the encoded protein is not. Transcripts of varying length due to alternative polyadenylation signals have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for null or severely hypomorphic allele exhibit reduced poly(I:C)-mediated TLR3 signaling and increased mortality following viral infection. [provided by MGI curators]
Allele List at MGI

none known

Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg5 A T 17: 84,979,586 (GRCm39) F258Y probably damaging Het
Adamtsl4 C T 3: 95,587,055 (GRCm39) R765H probably damaging Het
Bicd1 T A 6: 149,311,051 (GRCm39) L42Q probably damaging Het
Cacna1e C T 1: 154,313,012 (GRCm39) probably null Het
Capn1 T A 19: 6,044,761 (GRCm39) K504* probably null Het
Cdh15 G A 8: 123,588,763 (GRCm39) R279Q probably damaging Het
Cep350 T C 1: 155,804,332 (GRCm39) K917R probably damaging Het
Cp A T 3: 20,029,049 (GRCm39) T509S probably benign Het
Cyp2d10 T C 15: 82,288,684 (GRCm39) D266G probably damaging Het
Dhodh C G 8: 110,333,048 (GRCm39) R7P probably damaging Het
Dmxl2 A G 9: 54,354,189 (GRCm39) L419P probably benign Het
Epb41l4b A T 4: 57,019,875 (GRCm39) M84K probably benign Het
Fbln7 A G 2: 128,722,345 (GRCm39) probably null Het
Fbxw11 C T 11: 32,592,820 (GRCm39) probably benign Het
Flnc C A 6: 29,443,447 (GRCm39) P543T probably damaging Het
Grid1 T C 14: 34,748,737 (GRCm39) S186P probably damaging Het
Hdac9 G T 12: 34,487,246 (GRCm39) L73I probably damaging Het
Hnrnpa2b1 A T 6: 51,441,163 (GRCm39) D302E probably damaging Het
Ifi204 C T 1: 173,576,825 (GRCm39) C592Y probably damaging Het
Jph1 T A 1: 17,067,729 (GRCm39) I653F probably damaging Het
Kcnj3 A G 2: 55,484,918 (GRCm39) K339E probably benign Het
Kcp G A 6: 29,493,196 (GRCm39) T838I probably benign Het
Krtap26-1 A T 16: 88,444,108 (GRCm39) V171E possibly damaging Het
Lck G T 4: 129,442,765 (GRCm39) N452K possibly damaging Het
Madd A G 2: 90,990,673 (GRCm39) L1134S probably damaging Het
Mafk T C 5: 139,786,248 (GRCm39) S149P probably damaging Het
Man1c1 T C 4: 134,430,500 (GRCm39) D94G probably benign Het
Me2 T A 18: 73,934,930 (GRCm39) M38L probably benign Het
Muc2 A C 7: 141,306,082 (GRCm39) D257A probably damaging Het
Myh11 T C 16: 14,018,566 (GRCm39) K1927E probably damaging Het
Naaladl1 C T 19: 6,158,920 (GRCm39) P324S probably damaging Het
Ndufa10 T C 1: 92,379,824 (GRCm39) E303G probably benign Het
Nedd1 C T 10: 92,555,444 (GRCm39) V14I probably benign Het
Nwd1 T G 8: 73,393,958 (GRCm39) V407G probably damaging Het
Or2h15 A C 17: 38,441,748 (GRCm39) C112G probably damaging Het
Or4b1d T A 2: 89,968,593 (GRCm39) K297* probably null Het
Or4k15c T C 14: 50,321,476 (GRCm39) I221V probably benign Het
Or5w13 T A 2: 87,524,104 (GRCm39) T41S probably benign Het
Or7g29 A G 9: 19,286,694 (GRCm39) L161P probably damaging Het
Pgrmc2 T C 3: 41,024,840 (GRCm39) D144G probably damaging Het
Ppp3cb T C 14: 20,551,583 (GRCm39) N516S probably benign Het
Pramel27 T C 4: 143,579,530 (GRCm39) S372P probably damaging Het
Prelp A G 1: 133,842,485 (GRCm39) M220T probably damaging Het
Prss36 A G 7: 127,534,787 (GRCm39) W465R probably damaging Het
Pth2r C A 1: 65,375,920 (GRCm39) F59L probably benign Het
Rab20 C T 8: 11,504,485 (GRCm39) G72R probably damaging Het
Rab4a G T 8: 124,555,769 (GRCm39) G49W probably damaging Het
Rad9a G A 19: 4,250,560 (GRCm39) R85C probably damaging Het
Rhox2c A C X: 36,635,351 (GRCm39) Q4H probably benign Het
Rock1 A T 18: 10,136,152 (GRCm39) Y178* probably null Het
Scaf8 C A 17: 3,247,679 (GRCm39) L1001I probably damaging Het
Sema3b G A 9: 107,482,201 (GRCm39) P26S probably benign Het
Slc23a1 A G 18: 35,752,633 (GRCm39) L548P probably damaging Het
Sncaip A C 18: 53,039,629 (GRCm39) T548P probably benign Het
Stpg2 C T 3: 139,023,177 (GRCm39) P398S possibly damaging Het
Stpg3 A C 2: 25,103,309 (GRCm39) V260G probably damaging Het
Tbc1d9 T A 8: 83,960,875 (GRCm39) F242I probably damaging Het
Tnks1bp1 G A 2: 84,902,066 (GRCm39) R992Q probably damaging Het
Tom1l1 T G 11: 90,537,675 (GRCm39) H394P possibly damaging Het
Topors T G 4: 40,261,442 (GRCm39) N614T possibly damaging Het
Trank1 A T 9: 111,221,129 (GRCm39) Q2622L probably benign Het
Trub2 A G 2: 29,668,858 (GRCm39) S186P probably damaging Het
Unc13c T A 9: 73,479,636 (GRCm39) H1756L probably benign Het
Vmn1r9 A T 6: 57,048,314 (GRCm39) I130F probably benign Het
Wdr72 A T 9: 74,086,837 (GRCm39) I602F probably damaging Het
Zfand3 T A 17: 30,354,362 (GRCm39) F60I possibly damaging Het
Zfp946 G A 17: 22,674,692 (GRCm39) G482E probably benign Het
Other mutations in Hcfc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00847:Hcfc2 APN 10 82,577,112 (GRCm39) splice site probably null
IGL01799:Hcfc2 APN 10 82,536,825 (GRCm39) missense probably damaging 1.00
IGL01916:Hcfc2 APN 10 82,570,217 (GRCm39) missense possibly damaging 0.94
IGL02150:Hcfc2 APN 10 82,545,852 (GRCm39) missense probably damaging 1.00
IGL02378:Hcfc2 APN 10 82,544,905 (GRCm39) missense possibly damaging 0.64
IGL02580:Hcfc2 APN 10 82,564,256 (GRCm39) missense probably benign 0.00
IGL02641:Hcfc2 APN 10 82,538,383 (GRCm39) missense probably damaging 1.00
Backstabbing UTSW 10 82,547,659 (GRCm39) splice site probably null
feckless UTSW 10 82,547,895 (GRCm39) missense probably damaging 1.00
Minions UTSW 10 82,575,079 (GRCm39) missense probably damaging 1.00
scaffold UTSW 10 82,574,242 (GRCm39) missense probably damaging 1.00
R0380:Hcfc2 UTSW 10 82,564,272 (GRCm39) splice site probably benign
R0528:Hcfc2 UTSW 10 82,575,079 (GRCm39) missense probably damaging 1.00
R0534:Hcfc2 UTSW 10 82,574,242 (GRCm39) missense probably damaging 1.00
R1646:Hcfc2 UTSW 10 82,536,861 (GRCm39) missense probably damaging 1.00
R1903:Hcfc2 UTSW 10 82,538,392 (GRCm39) missense probably damaging 0.98
R1939:Hcfc2 UTSW 10 82,538,284 (GRCm39) missense probably damaging 0.99
R2014:Hcfc2 UTSW 10 82,574,814 (GRCm39) missense probably benign 0.23
R2015:Hcfc2 UTSW 10 82,574,814 (GRCm39) missense probably benign 0.23
R2571:Hcfc2 UTSW 10 82,544,857 (GRCm39) missense probably damaging 1.00
R4540:Hcfc2 UTSW 10 82,568,481 (GRCm39) missense probably benign 0.10
R4735:Hcfc2 UTSW 10 82,547,914 (GRCm39) missense probably damaging 1.00
R4833:Hcfc2 UTSW 10 82,544,980 (GRCm39) missense probably null 0.01
R6837:Hcfc2 UTSW 10 82,575,030 (GRCm39) missense probably damaging 0.96
R7268:Hcfc2 UTSW 10 82,544,846 (GRCm39) nonsense probably null
R7683:Hcfc2 UTSW 10 82,535,063 (GRCm39) missense probably benign 0.00
R7733:Hcfc2 UTSW 10 82,575,013 (GRCm39) missense probably benign 0.00
R7742:Hcfc2 UTSW 10 82,547,659 (GRCm39) splice site probably null
R8319:Hcfc2 UTSW 10 82,574,201 (GRCm39) missense probably damaging 0.98
R8829:Hcfc2 UTSW 10 82,574,179 (GRCm39) missense probably damaging 1.00
R8989:Hcfc2 UTSW 10 82,536,822 (GRCm39) missense probably damaging 1.00
R9189:Hcfc2 UTSW 10 82,535,041 (GRCm39) missense probably benign 0.06
R9241:Hcfc2 UTSW 10 82,568,485 (GRCm39) missense probably benign
R9362:Hcfc2 UTSW 10 82,574,258 (GRCm39) missense probably damaging 1.00
R9363:Hcfc2 UTSW 10 82,574,258 (GRCm39) missense probably damaging 1.00
R9386:Hcfc2 UTSW 10 82,574,937 (GRCm39) missense probably damaging 1.00
R9701:Hcfc2 UTSW 10 82,574,269 (GRCm39) nonsense probably null
R9802:Hcfc2 UTSW 10 82,574,269 (GRCm39) nonsense probably null
V3553:Hcfc2 UTSW 10 82,547,895 (GRCm39) missense probably damaging 1.00
X0022:Hcfc2 UTSW 10 82,545,801 (GRCm39) missense probably damaging 0.99
Z1176:Hcfc2 UTSW 10 82,535,006 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- TTCAGTAAGCAGTGCAGTGC -3'
(R):5'- AGGACAGGTTAAATCCCCGC -3'

Sequencing Primer
(F):5'- GTGCTCATCACTGGAGATCTCAAAG -3'
(R):5'- AGGTTAAATCCCCGCATCGTC -3'
Posted On 2015-10-21