Mutagenetix > Incidental Mutation

Incidental Mutation 'R2015:Hcfc2'

222854

Institutional Source

Beutler Lab

Gene Symbol

Hcfc2

Ensembl Gene

ENSMUSG00000020246

Gene Name

host cell factor C2

Synonyms

1700129L13Rik, fkls

MMRRC Submission

040024-MU

Accession Numbers

Essential gene?

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

Stock #

R2015 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

82531994-82578262 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 82574814 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 618 (N618D)

Ref Sequence

ENSEMBL: ENSMUSP00000020478 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020478] [ENSMUST00000160681]

AlphaFold

Q9D968

Predicted Effect

probably benign
Transcript: ENSMUST00000020478
AA Change: N618D

PolyPhen 2 Score 0.231 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000020478
Gene: ENSMUSG00000020246
AA Change: N618D

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

probably benign
Transcript: ENSMUST00000160681
AA Change: N158D

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000124489
Gene: ENSMUSG00000020246
AA Change: N158D

Domain	Start	End	E-Value	Type
FN3	52	131	1.22e1	SMART
FN3	147	243	6.06e-1	SMART

Meta Mutation Damage Score

0.0608

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.7%

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	T	11: 110,022,672 (GRCm39)	M1022K	probably benign	Het
Abhd4	T	A	14: 54,500,289 (GRCm39)	H74Q	probably damaging	Het
Actg1	A	G	11: 120,237,636 (GRCm39)	S49P	possibly damaging	Het
Adcy8	C	T	15: 64,639,727 (GRCm39)	G678S	probably benign	Het
Aire	T	C	10: 77,878,792 (GRCm39)	D85G	probably damaging	Het
Akr1c18	T	A	13: 4,195,308 (GRCm39)	D50V	probably damaging	Het
Ankrd13a	C	A	5: 114,930,170 (GRCm39)	A185E	probably damaging	Het
Apc	A	G	18: 34,448,644 (GRCm39)	I1813V	probably damaging	Het
Armc8	A	T	9: 99,365,158 (GRCm39)	C661*	probably null	Het
Bbs10	C	T	10: 111,136,716 (GRCm39)	Q610*	probably null	Het
Blm	T	C	7: 80,152,147 (GRCm39)	E600G	probably damaging	Het
Bpifb9a	T	C	2: 154,110,120 (GRCm39)		probably null	Het
Cdk14	T	C	5: 5,430,082 (GRCm39)	K15R	probably benign	Het
Cdr1	A	G	X: 60,228,420 (GRCm39)	F249L	probably benign	Het
Cep250	A	C	2: 155,823,373 (GRCm39)	H1009P	probably damaging	Het
Cfap97d1	C	A	11: 101,878,044 (GRCm39)	H35Q	probably damaging	Het
Clasp2	A	G	9: 113,740,568 (GRCm39)	T495A	possibly damaging	Het
Col19a1	C	G	1: 24,598,834 (GRCm39)	G53A	unknown	Het
Cpne1	G	A	2: 155,920,308 (GRCm39)	R166C	probably damaging	Het
Dtx3l	G	A	16: 35,756,797 (GRCm39)	H129Y	probably benign	Het
Ercc3	A	G	18: 32,381,482 (GRCm39)	T433A	probably benign	Het
Gm9936	T	A	5: 114,995,482 (GRCm39)		probably benign	Het
Grina	T	C	15: 76,132,734 (GRCm39)	V167A	probably damaging	Het
H2ac25	T	A	11: 58,845,754 (GRCm39)	L64Q	probably damaging	Het
Herpud1	T	C	8: 95,118,834 (GRCm39)	V196A	probably benign	Het
Hlcs	A	G	16: 94,063,599 (GRCm39)	V487A	probably benign	Het
Hspa9	A	T	18: 35,079,701 (GRCm39)	Y243N	probably damaging	Het
Igll1	A	G	16: 16,681,639 (GRCm39)	S39P	probably benign	Het
Kdm5a	T	C	6: 120,408,951 (GRCm39)	S1545P	probably benign	Het
Klra8	C	A	6: 130,092,536 (GRCm39)	C255F	probably damaging	Het
Krtap4-6	A	T	11: 99,556,398 (GRCm39)	C110S	unknown	Het
Lef1	T	A	3: 130,905,236 (GRCm39)	I39N	probably damaging	Het
Lnpep	G	A	17: 17,799,325 (GRCm39)	T110I	probably damaging	Het
Lrp1	T	A	10: 127,376,563 (GRCm39)	T4282S	probably benign	Het
Lrp6	A	G	6: 134,457,337 (GRCm39)		probably null	Het
Ly6g5b	A	C	17: 35,333,654 (GRCm39)	S53A	possibly damaging	Het
M6pr	T	G	6: 122,290,332 (GRCm39)	N98K	probably damaging	Het
Mal2	T	C	15: 54,464,136 (GRCm39)	*176Q	probably null	Het
Mansc1	T	C	6: 134,587,274 (GRCm39)	D301G	possibly damaging	Het
Marchf1	C	A	8: 66,574,473 (GRCm39)	N11K	probably damaging	Het
Mast3	T	A	8: 71,240,007 (GRCm39)	I338F	probably benign	Het
Mcm3	A	G	1: 20,873,804 (GRCm39)	L772P	probably damaging	Het
Mib2	C	T	4: 155,742,337 (GRCm39)	G176D	probably damaging	Het
Mier2	A	T	10: 79,377,036 (GRCm39)		probably null	Het
Mogs	C	T	6: 83,094,631 (GRCm39)	R483*	probably null	Het
Msl2	G	T	9: 100,957,304 (GRCm39)		probably benign	Het
Naa16	A	T	14: 79,582,499 (GRCm39)	M530K	probably damaging	Het
Nde1	A	T	16: 13,987,321 (GRCm39)		probably benign	Het
Ndufb10	T	C	17: 24,941,503 (GRCm39)		probably null	Het
Nhsl1	A	T	10: 18,387,340 (GRCm39)	R205W	probably damaging	Het
Npffr2	T	A	5: 89,730,751 (GRCm39)	I227N	probably damaging	Het
Nup210l	T	A	3: 90,092,739 (GRCm39)	L1231Q	probably damaging	Het
Or2f1	A	G	6: 42,721,784 (GRCm39)	E271G	probably damaging	Het
Or7a39	T	C	10: 78,715,222 (GRCm39)	I72T	possibly damaging	Het
Pclo	C	A	5: 14,571,515 (GRCm39)	P300Q	probably damaging	Het
Pik3c2a	T	A	7: 115,950,166 (GRCm39)		probably null	Het
Plekha5	T	A	6: 140,480,290 (GRCm39)		probably null	Het
Pls1	A	G	9: 95,643,418 (GRCm39)	V527A	possibly damaging	Het
Ppfia2	T	C	10: 106,310,538 (GRCm39)	M15T	probably benign	Het
Prkd2	T	A	7: 16,581,602 (GRCm39)	C152*	probably null	Het
Ptprq	T	G	10: 107,503,283 (GRCm39)	K792Q	probably damaging	Het
Pttg1ip2	T	A	5: 5,505,964 (GRCm39)	I106L	probably benign	Het
Rbbp8	T	C	18: 11,853,681 (GRCm39)	M296T	probably benign	Het
Rfc3	T	C	5: 151,571,003 (GRCm39)		probably null	Het
Rnf17	A	G	14: 56,724,426 (GRCm39)	N1090S	probably benign	Het
Sash1	A	T	10: 8,605,177 (GRCm39)	V1071D	probably benign	Het
Sdsl	G	A	5: 120,601,218 (GRCm39)	T18M	probably damaging	Het
Sepsecs	T	A	5: 52,804,966 (GRCm39)	Q365L	probably benign	Het
Sgta	A	T	10: 80,887,130 (GRCm39)	V45E	probably damaging	Het
Slc25a46	A	T	18: 31,742,778 (GRCm39)	H29Q	probably benign	Het
Slc2a8	A	C	2: 32,871,392 (GRCm39)	V136G	probably benign	Het
Smg7	A	T	1: 152,736,259 (GRCm39)	N166K	probably damaging	Het
Spata21	C	T	4: 140,834,640 (GRCm39)	Q505*	probably null	Het
Strn4	T	C	7: 16,566,953 (GRCm39)	S458P	possibly damaging	Het
Tbc1d22a	C	T	15: 86,183,885 (GRCm39)	T248M	probably damaging	Het
Trabd	T	A	15: 88,968,929 (GRCm39)	M149K	possibly damaging	Het
Trpv3	A	T	11: 73,170,653 (GRCm39)	N178Y	probably damaging	Het
Try5	C	T	6: 41,291,585 (GRCm39)		probably null	Het
Tsg101	C	T	7: 46,558,652 (GRCm39)		probably null	Het
Ube3b	A	G	5: 114,549,210 (GRCm39)	E738G	probably damaging	Het
Unc13d	A	G	11: 115,959,581 (GRCm39)	S631P	probably damaging	Het
Unc5d	T	C	8: 29,249,007 (GRCm39)	T297A	probably damaging	Het
Usp18	A	T	6: 121,245,509 (GRCm39)	E1V	probably damaging	Het
Vapb	C	A	2: 173,613,391 (GRCm39)	P97T	probably benign	Het
Vmn1r33	T	A	6: 66,589,356 (GRCm39)	D66V	probably benign	Het
Vmn2r19	T	A	6: 123,292,954 (GRCm39)	M332K	probably benign	Het
Vmn2r71	T	A	7: 85,269,845 (GRCm39)	M452K	probably benign	Het
Vps13b	T	C	15: 35,607,288 (GRCm39)	S1074P	probably damaging	Het
Vwde	C	A	6: 13,208,337 (GRCm39)	G182C	possibly damaging	Het
Wdfy3	A	C	5: 102,008,352 (GRCm39)	S2778A	probably null	Het
Zbtb2	T	A	10: 4,319,757 (GRCm39)	I90F	possibly damaging	Het
Zfp518b	C	A	5: 38,829,345 (GRCm39)	V887F	probably benign	Het
Zfp790	A	G	7: 29,528,286 (GRCm39)	T324A	probably benign	Het
Zup1	A	G	10: 33,805,820 (GRCm39)	V437A	possibly 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
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
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'- CCTTTGGGGATATGATAGGAAGC -3'
(R):5'- TCTGAACACAATGGCGGGTC -3'

Sequencing Primer
(F):5'- GGAAGCTTGGGTATTTAAACTGTAC -3'
(R):5'- CATTTGCAAGCTGCCCAG -3'

Posted On

2014-08-25