Incidental Mutation 'R1903:Hcfc2'
ID 209965
Institutional Source Beutler Lab
Gene Symbol Hcfc2
Ensembl Gene ENSMUSG00000020246
Gene Name host cell factor C2
Synonyms 1700129L13Rik, fkls
MMRRC Submission 039923-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.194) question?
Stock # R1903 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 82531994-82578262 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 82538392 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Valine at position 143 (G143V)
Ref Sequence ENSEMBL: ENSMUSP00000020478 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020478]
AlphaFold Q9D968
Predicted Effect probably damaging
Transcript: ENSMUST00000020478
AA Change: G143V

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000020478
Gene: ENSMUSG00000020246
AA Change: G143V

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 noncoding transcript
Transcript: ENSMUST00000160845
Predicted Effect unknown
Transcript: ENSMUST00000162422
AA Change: G120V
SMART Domains Protein: ENSMUSP00000124472
Gene: ENSMUSG00000020246
AA Change: G120V

DomainStartEndE-ValueType
Pfam:Kelch_1 1 38 8.5e-7 PFAM
Pfam:Kelch_5 46 84 3.7e-8 PFAM
Pfam:Kelch_3 59 113 2.6e-8 PFAM
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.7%
  • 10x: 95.0%
  • 20x: 91.8%
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: 120 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A C 9: 57,165,635 (GRCm39) S246R possibly damaging Het
Abca13 C T 11: 9,416,411 (GRCm39) R4058C probably benign Het
Acacb A T 5: 114,303,795 (GRCm39) R73* probably null Het
Adam22 C T 5: 8,184,525 (GRCm39) C489Y probably damaging Het
Agap3 A T 5: 24,698,011 (GRCm39) K460I probably damaging Het
Ak4 T C 4: 101,320,833 (GRCm39) I214T possibly damaging Het
Anpep C T 7: 79,488,004 (GRCm39) E518K probably benign Het
Arrb2 T A 11: 70,328,808 (GRCm39) H221Q probably damaging Het
Atl1 T G 12: 70,006,049 (GRCm39) F452V probably damaging Het
Atp8b5 A G 4: 43,357,063 (GRCm39) T604A probably damaging Het
Bglap3 T C 3: 88,276,068 (GRCm39) I95V probably benign Het
Ccdc88a G T 11: 29,411,788 (GRCm39) M532I probably benign Het
Ccnl1 A G 3: 65,854,332 (GRCm39) S430P possibly damaging Het
Cdhr18 C T 14: 13,829,657 (GRCm38) S695N possibly damaging Het
Cdk5rap2 A T 4: 70,321,791 (GRCm39) probably null Het
Cep126 A T 9: 8,120,748 (GRCm39) Y92N possibly damaging Het
Cfap44 A C 16: 44,242,737 (GRCm39) T714P probably benign Het
Cnga1 T G 5: 72,774,068 (GRCm39) D90A possibly damaging Het
Cnot1 T C 8: 96,469,749 (GRCm39) I1369V possibly damaging Het
Coq3 T C 4: 21,910,466 (GRCm39) S314P probably damaging Het
Crhr1 A G 11: 104,060,675 (GRCm39) R151G probably damaging Het
Crybg2 A G 4: 133,806,167 (GRCm39) I930V probably damaging Het
Ctcf T A 8: 106,402,620 (GRCm39) probably null Het
Dct T C 14: 118,271,690 (GRCm39) N380S probably benign Het
Decr2 A T 17: 26,306,387 (GRCm39) L83Q probably damaging Het
Depdc5 CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT 5: 33,067,751 (GRCm39) probably benign Het
Dgkb T C 12: 38,216,776 (GRCm39) probably null Het
Dnah1 T C 14: 31,041,716 (GRCm39) D85G probably damaging Het
Dnah7a T C 1: 53,574,637 (GRCm39) D1709G probably damaging Het
Dnajc13 A C 9: 104,106,136 (GRCm39) L346R probably damaging Het
Dsc1 A T 18: 20,229,045 (GRCm39) V415D probably damaging Het
Duox2 T A 2: 122,125,832 (GRCm39) I296F probably damaging Het
Ece2 T A 16: 20,463,922 (GRCm39) L890H probably damaging Het
Ecsit A G 9: 21,987,815 (GRCm39) S75P possibly damaging Het
Enpp3 A G 10: 24,654,687 (GRCm39) C664R probably damaging Het
Evpl G T 11: 116,117,854 (GRCm39) D778E probably damaging Het
Eya3 T A 4: 132,448,663 (GRCm39) probably null Het
Fam217b A T 2: 178,062,374 (GRCm39) I113F probably benign Het
Galnt6 G A 15: 100,613,999 (GRCm39) P101S possibly damaging Het
Gm379 G A X: 107,707,870 (GRCm39) Q210* probably null Het
Grk4 A T 5: 34,833,531 (GRCm39) probably null Het
Gtf3c4 A G 2: 28,729,968 (GRCm39) V91A probably benign Het
Heatr4 A C 12: 84,005,221 (GRCm39) H710Q probably damaging Het
Htr3a A T 9: 48,817,681 (GRCm39) D97E probably damaging Het
Htr4 T G 18: 62,561,193 (GRCm39) F151L probably benign Het
Il22ra1 A T 4: 135,478,219 (GRCm39) Q430L probably damaging Het
Invs T A 4: 48,402,824 (GRCm39) probably null Het
Ip6k1 G A 9: 107,918,195 (GRCm39) E77K possibly damaging Het
Irs1 T C 1: 82,267,182 (GRCm39) S345G probably damaging Het
Kdm4a A G 4: 118,017,596 (GRCm39) V490A probably benign Het
Kif26a C T 12: 112,141,974 (GRCm39) R743C probably damaging Het
Kif28 A G 1: 179,530,088 (GRCm39) V691A possibly damaging Het
Klhl5 T A 5: 65,324,330 (GRCm39) L696Q probably benign Het
Krtap5-1 T C 7: 141,850,084 (GRCm39) probably benign Het
Lama2 A C 10: 27,064,395 (GRCm39) D1195E probably damaging Het
Lamb1 T G 12: 31,379,209 (GRCm39) L1722R probably damaging Het
Lrp11 T A 10: 7,499,544 (GRCm39) L245Q probably damaging Het
Ltbp2 T C 12: 84,876,879 (GRCm39) E422G probably benign Het
Man2b1 T A 8: 85,813,451 (GRCm39) D214E probably damaging Het
Mlxipl A T 5: 135,162,422 (GRCm39) D628V possibly damaging Het
Msantd5f6 T A 4: 73,321,675 (GRCm39) Y120F probably damaging Het
Myo18b G A 5: 112,840,624 (GRCm39) R2390C probably damaging Het
Mypn T A 10: 62,959,176 (GRCm39) R1048S probably benign Het
Napepld A G 5: 21,870,270 (GRCm39) S383P probably damaging Het
Napsa A G 7: 44,231,160 (GRCm39) T130A probably damaging Het
Nbr1 T C 11: 101,465,978 (GRCm39) I716T probably damaging Het
Nexn A T 3: 151,953,818 (GRCm39) M212K probably damaging Het
Nlrp9b T A 7: 19,757,182 (GRCm39) S140T probably benign Het
Nxpe2 T C 9: 48,230,906 (GRCm39) T488A probably benign Het
Or10g3 T G 14: 52,610,174 (GRCm39) Q112P possibly damaging Het
Or10v1 A T 19: 11,873,913 (GRCm39) Y176F probably benign Het
Or5ac25 A T 16: 59,182,526 (GRCm39) D18E probably benign Het
Or7g12 A T 9: 18,900,192 (GRCm39) K303* probably null Het
Or8k20 C T 2: 86,106,190 (GRCm39) V214I probably benign Het
Osbpl5 T C 7: 143,256,918 (GRCm39) D404G possibly damaging Het
Pan2 T G 10: 128,144,237 (GRCm39) L162R probably damaging Het
Parp1 G T 1: 180,416,235 (GRCm39) V545F probably damaging Het
Pcdh18 A G 3: 49,709,896 (GRCm39) V473A probably benign Het
Plb1 A T 5: 32,448,582 (GRCm39) N350I probably damaging Het
Polr1a A G 6: 71,944,898 (GRCm39) K1318R probably benign Het
Ppp1r18 C T 17: 36,184,738 (GRCm39) P130S probably damaging Het
Prss48 C T 3: 85,905,614 (GRCm39) W86* probably null Het
Rab3c A T 13: 110,220,744 (GRCm39) I137N probably damaging Het
Rab3gap2 G C 1: 184,954,099 (GRCm39) R57P probably benign Het
Rad54l2 A C 9: 106,570,916 (GRCm39) probably null Het
Ralgapb C A 2: 158,337,483 (GRCm39) N1147K probably benign Het
Rfx7 C T 9: 72,524,093 (GRCm39) R428C probably damaging Het
Robo1 A G 16: 72,757,092 (GRCm39) Q351R probably null Het
Samd4 T C 14: 47,311,585 (GRCm39) F81S probably damaging Het
Shprh T A 10: 11,059,541 (GRCm39) Y1097* probably null Het
Sik3 C G 9: 46,132,387 (GRCm39) H1276Q probably benign Het
Slc24a4 T A 12: 102,097,876 (GRCm39) D79E probably benign Het
Slc7a13 A T 4: 19,839,254 (GRCm39) I286F probably benign Het
Smarca1 G A X: 46,938,840 (GRCm39) Q723* probably null Het
Spata31d1b T C 13: 59,865,882 (GRCm39) L1010P probably damaging Het
Sult2a1 T C 7: 13,569,900 (GRCm39) S111G possibly damaging Het
Tecpr2 C T 12: 110,914,346 (GRCm39) T1219M probably damaging Het
Tesk1 T C 4: 43,446,998 (GRCm39) M462T probably benign Het
Thoc2l T A 5: 104,666,196 (GRCm39) S239R probably benign Het
Tmem171 C A 13: 98,822,924 (GRCm39) G292* probably null Het
Tmtc2 G T 10: 105,025,969 (GRCm39) T833N probably benign Het
Tnc G T 4: 63,918,299 (GRCm39) T1204K probably benign Het
Tnfaip3 T C 10: 18,883,937 (GRCm39) K148E probably benign Het
Tnrc18 G A 5: 142,800,895 (GRCm39) S21F probably damaging Het
Tns4 T C 11: 98,966,401 (GRCm39) T425A probably damaging Het
Tox T A 4: 6,688,948 (GRCm39) Y472F probably damaging Het
Trak2 A T 1: 58,958,014 (GRCm39) probably null Het
Trim33 T A 3: 103,244,760 (GRCm39) Y716N probably damaging Het
Trrap T G 5: 144,752,863 (GRCm39) I1813R probably damaging Het
Ttc29 A G 8: 78,978,361 (GRCm39) E137G probably benign Het
Ube2j2 A G 4: 156,033,483 (GRCm39) K19R probably benign Het
Ubxn2b T C 4: 6,208,889 (GRCm39) I206T possibly damaging Het
Usp40 A G 1: 87,909,778 (GRCm39) F559L probably benign Het
Utp4 T A 8: 107,638,982 (GRCm39) probably null Het
Vac14 A G 8: 111,409,166 (GRCm39) N524S probably benign Het
Vps13c T C 9: 67,801,334 (GRCm39) S605P probably damaging Het
Vwa5b2 G T 16: 20,423,582 (GRCm39) S1165I possibly damaging Het
Zdhhc19 C T 16: 32,317,231 (GRCm39) R28* probably null Het
Zfp106 T C 2: 120,357,329 (GRCm39) I1189V probably benign Het
Zfp189 C T 4: 49,529,511 (GRCm39) Q205* probably null 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
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
R4694:Hcfc2 UTSW 10 82,559,534 (GRCm39) missense probably damaging 1.00
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'- TCCGGTGAGATTCAGATGTATTC -3'
(R):5'- TGAAAACTATTCCCTAGGGACTAC -3'

Sequencing Primer
(F):5'- CAGATGTATTCGTATGGTGTTTCAC -3'
(R):5'- ACTATTCCCTAGGGACTACAAAAAC -3'
Posted On 2014-06-30