Incidental Mutation 'IGL02378:Hcfc2'
ID291251
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hcfc2
Ensembl Gene ENSMUSG00000020246
Gene Namehost cell factor C2
Synonyms1700129L13Rik
Accession Numbers

Genbank: NM_001081218; MGI: 1915183

Is this an essential gene? Probably non essential (E-score: 0.218) question?
Stock #IGL02378
Quality Score
Status
Chromosome10
Chromosomal Location82696160-82742428 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 82709071 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 179 (I179T)
Ref Sequence ENSEMBL: ENSMUSP00000020478 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020478]
Predicted Effect possibly damaging
Transcript: ENSMUST00000020478
AA Change: I179T

PolyPhen 2 Score 0.636 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000020478
Gene: ENSMUSG00000020246
AA Change: I179T

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 probably benign
Transcript: ENSMUST00000162422
SMART Domains Protein: ENSMUSP00000124472
Gene: ENSMUSG00000020246

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
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik G A 11: 72,189,598 T414I probably benign Het
Abca8a A G 11: 110,078,815 probably benign Het
Acer2 A T 4: 86,886,254 T69S probably benign Het
Adcy2 A G 13: 68,730,292 V409A probably damaging Het
Anks3 T A 16: 4,950,762 Y239F possibly damaging Het
Arhgap42 G A 9: 9,035,583 H253Y possibly damaging Het
Asb18 A T 1: 89,992,988 L189Q probably damaging Het
C3 T C 17: 57,212,698 R1185G probably benign Het
Cdca7l T A 12: 117,872,127 V66E possibly damaging Het
Cdrt4 G T 11: 62,992,708 E79* probably null Het
Cep57 A C 9: 13,821,546 Y34* probably null Het
Cep63 A T 9: 102,596,115 probably benign Het
Clip4 T A 17: 71,837,726 I516K possibly damaging Het
Dnah10 A G 5: 124,773,067 E1551G probably damaging Het
Dysf T C 6: 84,111,905 I843T probably damaging Het
Gabra1 C A 11: 42,140,255 V283F probably damaging Het
Htr2c G A X: 147,193,759 probably benign Het
Irgc1 G A 7: 24,432,075 T439I probably benign Het
Itgae T A 11: 73,118,121 L476H probably benign Het
Jarid2 A C 13: 44,914,325 K1070T probably damaging Het
Lama2 A G 10: 27,043,656 I2193T probably damaging Het
Med19 A G 2: 84,685,281 E103G probably damaging Het
Nav1 C T 1: 135,469,978 D818N probably benign Het
Nom1 G T 5: 29,451,126 E830* probably null Het
Olfr1450 A C 19: 12,954,383 S265R probably benign Het
Olfr980 T G 9: 40,006,473 T159P probably damaging Het
Orai3 G T 7: 127,770,161 R58L probably damaging Het
Osbpl8 T A 10: 111,282,145 M583K possibly damaging Het
Pik3cb A T 9: 99,062,840 M624K probably benign Het
Rars2 G A 4: 34,656,199 R451H possibly damaging Het
Rgs22 A G 15: 36,103,805 L170P probably benign Het
Rps6kl1 C A 12: 85,138,674 D417Y probably damaging Het
Senp6 A G 9: 80,126,392 D106G probably damaging Het
Setx C T 2: 29,173,726 probably benign Het
Sfswap T A 5: 129,539,604 Y371N probably damaging Het
Slc24a3 C T 2: 145,518,402 R141C possibly damaging Het
Sorcs1 C T 19: 50,182,671 W926* probably null Het
Steap4 A G 5: 7,976,741 T235A probably benign Het
Tead2 T A 7: 45,218,147 probably null Het
Tll1 A T 8: 64,017,626 L921* probably null Het
Tnfrsf19 T A 14: 60,971,002 T357S probably benign Het
Tnik C A 3: 28,638,459 S825* probably null Het
Vil1 T A 1: 74,430,691 probably null Het
Vmn2r106 T C 17: 20,277,529 K483E probably damaging Het
Vwa5a G A 9: 38,733,970 M450I probably benign Het
Xirp2 C T 2: 67,513,768 P2118S probably benign Het
Other mutations in Hcfc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00847:Hcfc2 APN 10 82741278 splice site probably null
IGL01799:Hcfc2 APN 10 82700991 missense probably damaging 1.00
IGL01916:Hcfc2 APN 10 82734383 missense possibly damaging 0.94
IGL02150:Hcfc2 APN 10 82710018 missense probably damaging 1.00
IGL02580:Hcfc2 APN 10 82728422 missense probably benign 0.00
IGL02641:Hcfc2 APN 10 82702549 missense probably damaging 1.00
Backstabbing UTSW 10 82711825 splice site probably null
feckless UTSW 10 82712061 missense probably damaging 1.00
Minions UTSW 10 82739245 missense probably damaging 1.00
scaffold UTSW 10 82738408 missense probably damaging 1.00
R0380:Hcfc2 UTSW 10 82728438 splice site probably benign
R0528:Hcfc2 UTSW 10 82739245 missense probably damaging 1.00
R0534:Hcfc2 UTSW 10 82738408 missense probably damaging 1.00
R1646:Hcfc2 UTSW 10 82701027 missense probably damaging 1.00
R1903:Hcfc2 UTSW 10 82702558 missense probably damaging 0.98
R1939:Hcfc2 UTSW 10 82702450 missense probably damaging 0.99
R2014:Hcfc2 UTSW 10 82738980 missense probably benign 0.23
R2015:Hcfc2 UTSW 10 82738980 missense probably benign 0.23
R2571:Hcfc2 UTSW 10 82709023 missense probably damaging 1.00
R4540:Hcfc2 UTSW 10 82732647 missense probably benign 0.10
R4694:Hcfc2 UTSW 10 82723700 missense probably damaging 1.00
R4735:Hcfc2 UTSW 10 82712080 missense probably damaging 1.00
R4833:Hcfc2 UTSW 10 82709146 missense probably null 0.01
R6837:Hcfc2 UTSW 10 82739196 missense probably damaging 0.96
R7268:Hcfc2 UTSW 10 82709012 nonsense probably null
R7683:Hcfc2 UTSW 10 82699229 missense probably benign 0.00
R7733:Hcfc2 UTSW 10 82739179 missense probably benign 0.00
R7742:Hcfc2 UTSW 10 82711825 splice site probably null
V3553:Hcfc2 UTSW 10 82712061 missense probably damaging 1.00
X0022:Hcfc2 UTSW 10 82709967 missense probably damaging 0.99
Z1176:Hcfc2 UTSW 10 82699172 missense probably damaging 0.97
Posted On2015-04-16