Mutagenetix > Incidental Mutation

Incidental Mutation 'R4833:Hcfc2'

373002

Institutional Source

Beutler Lab

Gene Symbol

Hcfc2

Ensembl Gene

ENSMUSG00000020246

Gene Name

host cell factor C2

Synonyms

1700129L13Rik, fkls

MMRRC Submission

042449-MU

Accession Numbers

Essential gene?

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

Stock #

R4833 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

82531994-82578262 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 82544980 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 204 (A204V)

Ref Sequence

ENSEMBL: ENSMUSP00000020478 (fasta)

Gene Model

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

AlphaFold

Q9D968

Predicted Effect

probably null
Transcript: ENSMUST00000020478
AA Change: A204V

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000020478
Gene: ENSMUSG00000020246
AA Change: A204V

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

probably benign
Transcript: ENSMUST00000162422

SMART Domains

Protein: ENSMUSP00000124472
Gene: ENSMUSG00000020246

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

99% (74/75)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	C	A	19: 3,766,872 (GRCm39)	T153K	possibly damaging	Het
Abca5	A	C	11: 110,170,142 (GRCm39)	Y1318D	probably benign	Het
Adam18	A	G	8: 25,164,117 (GRCm39)	I22T	probably benign	Het
Adgrv1	T	A	13: 81,708,963 (GRCm39)	H1147L	possibly damaging	Het
Ankrd2	T	C	19: 42,032,296 (GRCm39)		probably null	Het
Bdkrb2	T	C	12: 105,557,917 (GRCm39)	W53R	probably benign	Het
Blm	T	A	7: 80,116,574 (GRCm39)	I1111L	probably benign	Het
Bltp1	A	G	3: 37,019,117 (GRCm39)	I2007V	probably damaging	Het
Bmp3	T	G	5: 99,003,066 (GRCm39)	L32R	probably damaging	Het
Cdh23	T	G	10: 60,220,817 (GRCm39)	E1312A	probably damaging	Het
Ceacam5	C	T	7: 17,486,183 (GRCm39)	T560M	probably benign	Het
Cimap1a	T	C	7: 140,428,191 (GRCm39)	M1T	probably null	Het
Cmtm8	C	A	9: 114,625,233 (GRCm39)	R66I	probably benign	Het
Cnbd1	A	G	4: 18,862,120 (GRCm39)	Y357H	probably damaging	Het
Col4a4	A	T	1: 82,507,323 (GRCm39)	V252E	unknown	Het
Col6a4	A	T	9: 105,949,178 (GRCm39)	M819K	probably benign	Het
Cwf19l2	T	C	9: 3,430,783 (GRCm39)	S372P	probably benign	Het
Daam2	A	T	17: 49,797,173 (GRCm39)	I204N	possibly damaging	Het
Dock6	T	C	9: 21,755,576 (GRCm39)	D216G	probably damaging	Het
Epha5	C	T	5: 84,253,750 (GRCm39)	D548N	possibly damaging	Het
Erich2	T	C	2: 70,364,636 (GRCm39)	Y311H	possibly damaging	Het
Gm3985	A	G	8: 33,380,505 (GRCm39)		noncoding transcript	Het
Gnb1	A	G	4: 155,627,524 (GRCm39)	T102A	possibly damaging	Het
Hnrnpu	T	C	1: 178,161,459 (GRCm39)		probably benign	Het
Htt	A	G	5: 35,009,569 (GRCm39)	T1517A	probably damaging	Het
Klhl6	T	A	16: 19,775,889 (GRCm39)	D223V	probably damaging	Het
Kpna6	A	G	4: 129,551,572 (GRCm39)	S71P	possibly damaging	Het
Lama3	A	G	18: 12,574,188 (GRCm39)	D590G	probably benign	Het
Lipt1	T	G	1: 37,914,610 (GRCm39)	L222R	probably damaging	Het
Lrrc41	A	G	4: 115,950,374 (GRCm39)		probably benign	Het
Lrrc59	T	C	11: 94,525,498 (GRCm39)	V98A	probably benign	Het
Mast4	A	G	13: 102,910,692 (GRCm39)		probably null	Het
Mdc1	C	T	17: 36,161,286 (GRCm39)	S733F	probably benign	Het
Mknk1	C	T	4: 115,735,383 (GRCm39)		probably benign	Het
Mtmr7	A	G	8: 41,043,505 (GRCm39)	F141S	probably damaging	Het
Myo15b	A	G	11: 115,778,428 (GRCm39)	D1G	possibly damaging	Het
Or7c70	T	G	10: 78,683,409 (GRCm39)	L113F	probably damaging	Het
Phkb	T	A	8: 86,628,540 (GRCm39)	V183E	probably damaging	Het
Pola2	T	C	19: 6,003,892 (GRCm39)	Y161C	probably damaging	Het
Psen1	G	A	12: 83,778,552 (GRCm39)	V412I	probably benign	Het
Psmc4	C	A	7: 27,746,937 (GRCm39)	G77V	probably damaging	Het
Psmd3	A	G	11: 98,578,586 (GRCm39)	Y207C	probably damaging	Het
Pxk	T	A	14: 8,130,653 (GRCm38)	M84K	probably damaging	Het
Rab44	A	C	17: 29,355,311 (GRCm39)	Q19P	probably damaging	Het
Rbks	A	G	5: 31,781,859 (GRCm39)	Y314H	probably benign	Het
Rftn2	T	C	1: 55,253,399 (GRCm39)	D68G	possibly damaging	Het
Rims2	T	A	15: 39,399,310 (GRCm39)	S838R	probably damaging	Het
Sdc4	A	T	2: 164,273,138 (GRCm39)	D57E	probably damaging	Het
Slfn14	A	G	11: 83,169,982 (GRCm39)	L554P	probably damaging	Het
Spink2	G	T	5: 77,353,239 (GRCm39)	D83E	possibly damaging	Het
Srsf4	C	T	4: 131,627,413 (GRCm39)		probably benign	Het
Taar8b	A	T	10: 23,968,030 (GRCm39)	S55T	possibly damaging	Het
Tbca	A	G	13: 94,968,918 (GRCm39)	E35G	probably benign	Het
Tmc5	C	A	7: 118,228,052 (GRCm39)	H307Q	probably benign	Het
Tmem169	A	G	1: 72,337,311 (GRCm39)	D82G	probably benign	Het
Tmem72	T	C	6: 116,675,319 (GRCm39)	T58A	probably benign	Het
Ttc7	C	T	17: 87,641,749 (GRCm39)	P449S	probably damaging	Het
Ttf2	T	C	3: 100,868,722 (GRCm39)	E449G	probably benign	Het
Ubr4	C	A	4: 139,129,857 (GRCm39)	T659K	probably damaging	Het
Wdr1	A	G	5: 38,704,372 (GRCm39)	Y98H	probably damaging	Het
Wfikkn2	A	G	11: 94,129,878 (GRCm39)	Y88H	probably benign	Het
Zfp384	A	T	6: 125,007,811 (GRCm39)	H247L	probably damaging	Het
Zfp526	C	T	7: 24,925,295 (GRCm39)	A518V	probably damaging	Het
Zfp788	T	A	7: 41,296,992 (GRCm39)	H47Q	probably benign	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
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
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'- TTTCTTTTCAAAACCCTGTGTGT -3'
(R):5'- TGCTGACTAAAATCTTAGTGCAATTTG -3'

Sequencing Primer
(F):5'- TGAGATTACAGCTGTGCACC -3'
(R):5'- GATTACCTAAATCAAGCTGCC -3'

Posted On

2016-03-01