Mutagenetix > Incidental Mutation

Incidental Mutation 'R1939:Hcfc2'

213826

Institutional Source

Beutler Lab

Gene Symbol

Hcfc2

Ensembl Gene

ENSMUSG00000020246

Gene Name

host cell factor C2

Synonyms

1700129L13Rik, fkls

MMRRC Submission

039957-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.194) question?

Stock #

R1939 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

82531994-82578262 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 82538284 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 107 (R107L)

Ref Sequence

ENSEMBL: ENSMUSP00000020478 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020478]

AlphaFold

Q9D968

Predicted Effect

probably damaging
Transcript: ENSMUST00000020478
AA Change: R107L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000020478
Gene: ENSMUSG00000020246
AA Change: R107L

Domain	Start	End	E-Value	Type
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: R84L

SMART Domains

Protein: ENSMUSP00000124472
Gene: ENSMUSG00000020246
AA Change: R84L

Domain	Start	End	E-Value	Type
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: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.2%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020L24Rik	T	A	11: 83,331,130 (GRCm39)	W11R	probably damaging	Het
2700049A03Rik	A	G	12: 71,207,186 (GRCm39)		probably null	Het
4933409G03Rik	T	C	2: 68,419,328 (GRCm39)	S26P	possibly damaging	Het
Ace2	A	T	X: 162,939,524 (GRCm39)	M123L	possibly damaging	Het
Acot3	A	G	12: 84,105,325 (GRCm39)	N264S	probably benign	Het
Acvr1c	A	T	2: 58,173,517 (GRCm39)	N248K	probably damaging	Het
Adam22	A	T	5: 8,380,015 (GRCm39)	F94L	probably damaging	Het
Adarb2	T	C	13: 8,253,358 (GRCm39)		probably null	Het
Aldh1b1	A	G	4: 45,802,755 (GRCm39)	M98V	possibly damaging	Het
Arfgef2	T	A	2: 166,715,548 (GRCm39)	V1331D	probably damaging	Het
Atf2	G	A	2: 73,676,563 (GRCm39)	P184S	probably damaging	Het
Atp8b3	A	T	10: 80,361,220 (GRCm39)	C785*	probably null	Het
Birc6	T	C	17: 74,977,332 (GRCm39)	S4362P	probably damaging	Het
Brd10	A	G	19: 29,731,077 (GRCm39)	F712S	possibly damaging	Het
Chn1	A	G	2: 73,455,245 (GRCm39)	C39R	probably damaging	Het
Cngb1	C	A	8: 96,026,320 (GRCm39)	G154W	probably damaging	Het
Cntnap5b	A	G	1: 99,895,073 (GRCm39)	H115R	probably benign	Het
Col23a1	A	G	11: 51,442,816 (GRCm39)	D159G	unknown	Het
Coro7	T	C	16: 4,446,596 (GRCm39)	E843G	probably benign	Het
Dnase2a	G	T	8: 85,637,524 (GRCm39)	A309S	possibly damaging	Het
Dync2h1	A	G	9: 7,139,159 (GRCm39)		probably null	Het
Engase	T	A	11: 118,370,012 (GRCm39)	N97K	probably damaging	Het
Fam83b	A	T	9: 76,400,362 (GRCm39)	M247K	probably damaging	Het
Fer	T	C	17: 64,280,123 (GRCm39)	S65P	probably damaging	Het
Fgf10	A	G	13: 118,925,688 (GRCm39)	R156G	probably damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,784 (GRCm39)		probably null	Het
Gm904	T	C	13: 50,798,772 (GRCm39)		probably null	Het
Gpat2	T	A	2: 127,277,879 (GRCm39)	*802K	probably null	Het
Itga8	T	G	2: 12,305,657 (GRCm39)	D111A	probably damaging	Het
Jag1	C	G	2: 136,925,393 (GRCm39)	V1070L	possibly damaging	Het
Lama5	T	C	2: 179,832,714 (GRCm39)	N1646S	probably benign	Het
Lgals8	T	G	13: 12,474,069 (GRCm39)	I10L	probably benign	Het
Lrp1b	A	G	2: 40,587,601 (GRCm39)	S116P	unknown	Het
Mcpt1	A	T	14: 56,256,546 (GRCm39)	K94I	possibly damaging	Het
Mpnd	T	C	17: 56,322,920 (GRCm39)	F384S	probably damaging	Het
Mrgprb5	A	T	7: 47,818,686 (GRCm39)	N16K	probably benign	Het
Myo15b	A	G	11: 115,778,529 (GRCm39)	T1139A	probably benign	Het
Nat8f5	A	C	6: 85,794,801 (GRCm39)	I53R	possibly damaging	Het
Nav1	A	T	1: 135,393,636 (GRCm39)	L1034Q	probably damaging	Het
Nudt6	T	C	3: 37,459,379 (GRCm39)	Y54C	probably damaging	Het
Or10j3b	G	T	1: 173,043,499 (GRCm39)	A94S	probably benign	Het
Or5p58	A	G	7: 107,694,348 (GRCm39)	V143A	probably benign	Het
Or6c217	A	C	10: 129,737,970 (GRCm39)	M203R	probably damaging	Het
Or8b35	A	G	9: 37,904,385 (GRCm39)	N199S	probably benign	Het
Or8c15	T	A	9: 38,120,725 (GRCm39)	Y72*	probably null	Het
Osbpl8	A	T	10: 111,125,672 (GRCm39)	H784L	probably benign	Het
Osr1	T	G	12: 9,629,687 (GRCm39)	S187A	probably damaging	Het
Pcdhgc5	A	G	18: 37,955,003 (GRCm39)	Y759C	probably damaging	Het
Pkd1l2	G	T	8: 117,772,921 (GRCm39)	Y1035*	probably null	Het
Pla2g15	A	G	8: 106,889,927 (GRCm39)	T400A	probably damaging	Het
Pms1	A	C	1: 53,236,135 (GRCm39)	L715R	probably damaging	Het
Prkd1	T	C	12: 50,441,777 (GRCm39)	N254S	probably benign	Het
Prkdc	T	C	16: 15,653,777 (GRCm39)	V3868A	possibly damaging	Het
Ptprt	T	C	2: 161,769,560 (GRCm39)	N435S	probably benign	Het
Purb	T	C	11: 6,424,943 (GRCm39)	E315G	unknown	Het
Rap1b	A	T	10: 117,654,491 (GRCm39)	N116K	probably damaging	Het
Rmc1	T	C	18: 12,313,562 (GRCm39)	L15P	probably damaging	Het
Rp1l1	A	G	14: 64,267,042 (GRCm39)	N876S	probably benign	Het
Rps6ka4	T	A	19: 6,816,834 (GRCm39)	I114F	probably damaging	Het
Semp2l1	T	C	1: 32,584,627 (GRCm39)	I428V	probably damaging	Het
Sh3bp2	A	G	5: 34,708,963 (GRCm39)	N19D	probably damaging	Het
Slc16a4	A	G	3: 107,208,317 (GRCm39)	M276V	probably benign	Het
Slc17a1	A	G	13: 24,059,864 (GRCm39)	T172A	probably benign	Het
Slc4a7	C	T	14: 14,748,581 (GRCm38)	A320V	probably damaging	Het
Slco1a6	T	A	6: 142,078,956 (GRCm39)	Y113F	probably damaging	Het
Srsf6	C	T	2: 162,776,403 (GRCm39)		probably benign	Het
St3gal6	A	T	16: 58,293,924 (GRCm39)		probably null	Het
Tdp2	A	G	13: 25,025,260 (GRCm39)	D343G	probably benign	Het
Tecpr2	T	A	12: 110,899,603 (GRCm39)	L657Q	probably damaging	Het
Tet2	T	C	3: 133,194,399 (GRCm39)	T12A	possibly damaging	Het
Trappc6a	T	A	7: 19,248,426 (GRCm39)	F28I	probably damaging	Het
Trim32	G	A	4: 65,532,303 (GRCm39)	V287I	probably benign	Het
Trpd52l3	T	C	19: 29,981,289 (GRCm39)	S15P	probably damaging	Het
Tsnaxip1	A	G	8: 106,566,670 (GRCm39)	I169V	probably benign	Het
Ttc34	G	A	4: 154,950,139 (GRCm39)	A1031T	possibly damaging	Het
Ttll11	T	A	2: 35,830,765 (GRCm39)	Q18L	probably null	Het
Ttll8	A	T	15: 88,799,689 (GRCm39)	I584N	probably damaging	Het
Ubiad1	A	G	4: 148,528,468 (GRCm39)	L147P	probably damaging	Het
Ucp3	T	C	7: 100,129,871 (GRCm39)	V171A	probably benign	Het
Vmn1r174	T	A	7: 23,453,532 (GRCm39)	I66N	probably damaging	Het
Vmn2r13	T	C	5: 109,339,852 (GRCm39)	D41G	possibly damaging	Het
Vmn2r4	T	C	3: 64,305,976 (GRCm39)	D393G	probably benign	Het
Wipf2	C	T	11: 98,783,236 (GRCm39)	R221*	probably null	Het
Zfp976	C	A	7: 42,263,105 (GRCm39)	C244F	unknown	Het
Zmym5	A	G	14: 57,036,577 (GRCm39)	V190A	probably damaging	Het

Other mutations in Hcfc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- GGTAGCCACTTCTCTTGAGTC -3'
(R):5'- CTACAAGAGAGCGTACCTGG -3'

Sequencing Primer
(F):5'- GTCTACACAGTGAGTTCCAGGAC -3'
(R):5'- AGCGTACCTGGGGACATTATTATTTG -3'

Posted On

2014-07-14