Mutagenetix > Incidental Mutation

Incidental Mutation 'R8829:Hcfc2'

673696

Institutional Source

Beutler Lab

Gene Symbol

Hcfc2

Ensembl Gene

ENSMUSG00000020246

Gene Name

host cell factor C2

Synonyms

1700129L13Rik, fkls

MMRRC Submission

068731-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.199) question?

Stock #

R8829 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

82531994-82578262 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 82574179 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 118 (Y118H)

Ref Sequence

ENSEMBL: ENSMUSP00000124489 (fasta)

Gene Model

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

AlphaFold

Q9D968

Predicted Effect

probably damaging
Transcript: ENSMUST00000020478
AA Change: Y578H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000020478
Gene: ENSMUSG00000020246
AA Change: Y578H

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 damaging
Transcript: ENSMUST00000160681
AA Change: Y118H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124489
Gene: ENSMUSG00000020246
AA Change: Y118H

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	A	T	3: 59,939,240 (GRCm39)	I5F	probably benign	Het
Abca13	A	T	11: 9,571,881 (GRCm39)	D4814V	probably damaging	Het
Adgrl1	A	G	8: 84,665,458 (GRCm39)	N1382D		Het
Adh6b	T	C	3: 138,055,463 (GRCm39)	V71A	probably benign	Het
Aox4	A	T	1: 58,294,649 (GRCm39)	M953L	probably benign	Het
B3galt9	T	A	2: 34,728,634 (GRCm39)	N144K	probably benign	Het
Bach2	A	T	4: 32,562,028 (GRCm39)	E165V	probably damaging	Het
Bltp2	A	G	11: 78,158,064 (GRCm39)	K409E	probably benign	Het
Catsperg2	A	G	7: 29,397,269 (GRCm39)	V1078A	probably benign	Het
Ccno	A	G	13: 113,126,239 (GRCm39)	N236S	probably benign	Het
Ccpg1	A	T	9: 72,917,633 (GRCm39)	D255V	probably benign	Het
Cdhr2	A	T	13: 54,865,930 (GRCm39)	Y278F	probably damaging	Het
Cdk17	C	T	10: 93,042,920 (GRCm39)		probably benign	Het
Celsr3	A	G	9: 108,717,582 (GRCm39)	D2216G	probably benign	Het
Cenpu	T	C	8: 47,026,496 (GRCm39)	L294P	probably damaging	Het
Chct1	A	G	11: 85,062,037 (GRCm39)	D12G	probably damaging	Het
Ctif	CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC	CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC	18: 75,604,874 (GRCm39)		probably benign	Het
Ctnna2	G	A	6: 77,582,205 (GRCm39)	R352*	probably null	Het
D630003M21Rik	C	A	2: 158,058,856 (GRCm39)	C348F	probably damaging	Het
Dcdc2a	C	T	13: 25,294,051 (GRCm39)	Q236*	probably null	Het
Ddx60	T	G	8: 62,393,695 (GRCm39)	S44A	probably damaging	Het
Dennd2c	T	A	3: 103,059,720 (GRCm39)		probably null	Het
Drd5	G	A	5: 38,477,078 (GRCm39)	V24M	probably benign	Het
Dthd1	T	C	5: 62,971,608 (GRCm39)	S144P	probably benign	Het
Fcna	C	A	2: 25,516,145 (GRCm39)	R124L	possibly damaging	Het
Frem1	T	C	4: 82,918,431 (GRCm39)	R504G	probably damaging	Het
Gldc	C	G	19: 30,078,212 (GRCm39)	M928I	probably benign	Het
Gprc6a	A	C	10: 51,491,295 (GRCm39)	I818R	probably damaging	Het
Hmmr	G	A	11: 40,612,499 (GRCm39)	S206F	probably damaging	Het
Htr1d	A	T	4: 136,170,554 (GRCm39)	H261L	probably benign	Het
Hycc2	A	T	1: 58,587,832 (GRCm39)	I127N	possibly damaging	Het
Igf1r	T	A	7: 67,875,769 (GRCm39)	F1244I	probably damaging	Het
Ighv1-63	A	G	12: 115,459,534 (GRCm39)	V21A	probably benign	Het
Kit	A	G	5: 75,799,791 (GRCm39)	N508D	probably benign	Het
Klk1b22	A	T	7: 43,764,277 (GRCm39)	E68D	probably benign	Het
Knstrn	C	T	2: 118,654,222 (GRCm39)	Q211*	probably null	Het
Krtap2-4	A	T	11: 99,505,246 (GRCm39)	C122S	unknown	Het
Map3k1	T	G	13: 111,889,015 (GRCm39)	H1314P	possibly damaging	Het
Mgat4c	A	T	10: 102,214,084 (GRCm39)	K22N	probably damaging	Het
Mpo	T	A	11: 87,694,250 (GRCm39)	F660Y	probably damaging	Het
Myb	A	T	10: 21,021,130 (GRCm39)	L433H	probably damaging	Het
Myo1c	G	A	11: 75,561,072 (GRCm39)	V793I	probably benign	Het
Nckap1l	T	A	15: 103,387,242 (GRCm39)	S706T	probably benign	Het
Ncoa3	A	G	2: 165,892,068 (GRCm39)	Y148C	probably damaging	Het
Nktr	T	A	9: 121,583,330 (GRCm39)	S1432T	unknown	Het
Odf2l	C	T	3: 144,833,820 (GRCm39)	S160L	probably benign	Het
Or10j7	C	T	1: 173,011,458 (GRCm39)	R181H	probably benign	Het
Or56b34	T	C	7: 104,937,435 (GRCm39)	L45P	possibly damaging	Het
Or6x1	T	A	9: 40,099,209 (GRCm39)	F266Y	probably benign	Het
Or8d23	G	T	9: 38,842,190 (GRCm39)	C241F	probably damaging	Het
Pclo	T	C	5: 14,838,464 (GRCm39)	W1424R		Het
Pcx	A	G	19: 4,651,968 (GRCm39)	D72G	probably damaging	Het
Pebp4	A	G	14: 70,285,916 (GRCm39)	D193G	probably benign	Het
Pi4kb	C	T	3: 94,900,344 (GRCm39)	T326M	probably damaging	Het
Piezo1	A	C	8: 123,217,753 (GRCm39)	M1265R		Het
Pip4k2c	A	T	10: 127,037,037 (GRCm39)	H177Q	probably damaging	Het
Pramel48	G	T	5: 95,630,939 (GRCm39)	C272F	possibly damaging	Het
Prpf40a	T	C	2: 53,047,927 (GRCm39)	M197V	probably benign	Het
Ptger3	A	G	3: 157,273,423 (GRCm39)	T257A	probably damaging	Het
Relt	T	A	7: 100,499,479 (GRCm39)	S147C	probably damaging	Het
Scap	A	G	9: 110,209,271 (GRCm39)	Y648C	probably damaging	Het
Scn9a	T	A	2: 66,313,961 (GRCm39)	D1919V	probably benign	Het
Septin8	G	A	11: 53,422,865 (GRCm39)	V25I	probably damaging	Het
Serpinb2	A	G	1: 107,443,257 (GRCm39)	I19V	probably benign	Het
Slc16a6	A	G	11: 109,345,932 (GRCm39)	Y444H	probably benign	Het
Syne1	T	C	10: 5,058,685 (GRCm39)	E7276G	probably benign	Het
Syt1	C	A	10: 108,478,193 (GRCm39)	C77F	probably benign	Het
Tcf20	T	A	15: 82,739,915 (GRCm39)	K512M	probably damaging	Het
Tomm7	T	C	5: 24,049,047 (GRCm39)	K9E	possibly damaging	Het
Trank1	T	C	9: 111,176,591 (GRCm39)	S288P	probably benign	Het
Trem3	T	C	17: 48,556,865 (GRCm39)	V112A	probably benign	Het
Ttbk1	C	A	17: 46,757,821 (GRCm39)	G938W	probably damaging	Het
Vmn1r178	G	A	7: 23,593,264 (GRCm39)	C104Y	probably damaging	Het
Zpr1	T	A	9: 46,192,344 (GRCm39)	Y418*	probably null	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
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
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'- ATGGAACTGGGTCCTTAAAATACACTC -3'
(R):5'- CCATGCATGGCTACTAAAACG -3'

Sequencing Primer
(F):5'- ATATGTGCCTTTTCTCTGAC -3'
(R):5'- CATGCATGGCTACTAAAACGTTTAAC -3'

Posted On

2021-07-15