Incidental Mutation 'IGL00847:Hcfc2'
ID 12659
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hcfc2
Ensembl Gene ENSMUSG00000020246
Gene Name host cell factor C2
Synonyms 1700129L13Rik, fkls
Accession Numbers
Essential gene? Probably non essential (E-score: 0.194) question?
Stock # IGL00847
Quality Score
Status
Chromosome 10
Chromosomal Location 82531994-82578262 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 82577112 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000020478 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020478] [ENSMUST00000160681]
AlphaFold Q9D968
Predicted Effect probably null
Transcript: ENSMUST00000020478
SMART Domains Protein: ENSMUSP00000020478
Gene: ENSMUSG00000020246

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
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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 T C 19: 57,140,722 (GRCm39) E142G possibly damaging Het
Arid4a C T 12: 71,122,492 (GRCm39) P958S probably damaging Het
Cct5 T C 15: 31,591,073 (GRCm39) probably benign Het
Cntnap4 C T 8: 113,494,251 (GRCm39) probably benign Het
Col4a3 C T 1: 82,695,590 (GRCm39) L1597F probably damaging Het
Gla C A X: 133,495,947 (GRCm39) V179L probably benign Het
Gm20422 A T 8: 70,195,642 (GRCm39) C212* probably null Het
Hace1 T A 10: 45,548,453 (GRCm39) Y14* probably null Het
Helz2 T C 2: 180,874,038 (GRCm39) D2152G possibly damaging Het
Lypd10 A G 7: 24,413,673 (GRCm39) T230A probably benign Het
Mcm8 T G 2: 132,661,594 (GRCm39) L74V probably benign Het
Myo18b A G 5: 112,978,255 (GRCm39) probably benign Het
Ptprg A T 14: 12,215,265 (GRCm38) N1084I probably damaging Het
Rad21l C A 2: 151,502,635 (GRCm39) A192S probably benign Het
Scn2a A G 2: 65,501,078 (GRCm39) D80G probably damaging Het
Serpinb3c A G 1: 107,203,990 (GRCm39) probably null Het
Sgip1 A G 4: 102,786,118 (GRCm39) probably benign Het
Slc25a41 G T 17: 57,341,957 (GRCm39) probably null Het
Snx14 C A 9: 88,302,382 (GRCm39) R140S probably damaging Het
Svs6 A C 2: 164,159,507 (GRCm39) K90T possibly damaging Het
Tlcd1 T A 11: 78,070,914 (GRCm39) Y168N probably damaging Het
Vps13d A G 4: 144,811,978 (GRCm39) I3312T probably benign Het
Zfp11 A G 5: 129,734,978 (GRCm39) V161A probably benign Het
Other mutations in Hcfc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2012-12-06