Mutagenetix > Incidental Mutation

Incidental Mutation 'R6711:Hcfc1'

529156

Institutional Source

Beutler Lab

Gene Symbol

Hcfc1

Ensembl Gene

ENSMUSG00000031386

Gene Name

host cell factor C1

Synonyms

VP16 accessory protein, HCF-1, HCF1

MMRRC Submission

044829-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.951) question?

Stock #

R6711 (G1)

Quality Score

221.999

Status

Validated

Chromosome

Chromosomal Location

72986398-73009963 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 72993671 bp (GRCm39)

Zygosity

Homozygous

Amino Acid Change

Cysteine to Serine at position 1165 (C1165S)

Ref Sequence

ENSEMBL: ENSMUSP00000110012 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033761] [ENSMUST00000114372]

AlphaFold

Q61191

Predicted Effect

probably damaging
Transcript: ENSMUST00000033761
AA Change: C1165S

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000033761
Gene: ENSMUSG00000031386
AA Change: C1165S

Domain	Start	End	E-Value	Type
Pfam:Kelch_1	32	71	4.3e-7	PFAM
Pfam:Kelch_4	32	81	4.5e-6	PFAM
Pfam:Kelch_3	91	145	5.6e-8	PFAM
Pfam:Kelch_3	146	208	1.5e-6	PFAM
Pfam:Kelch_4	199	254	5.6e-6	PFAM
Pfam:Kelch_3	215	263	2.4e-8	PFAM
Pfam:Kelch_1	254	309	7.5e-8	PFAM
Pfam:Kelch_3	264	330	1.1e-7	PFAM
Pfam:Kelch_5	318	363	7.4e-7	PFAM
Blast:FN3	364	536	5e-61	BLAST
Blast:FN3	538	602	5e-6	BLAST
low complexity region	639	658	N/A	INTRINSIC
Blast:FN3	740	932	8e-29	BLAST
low complexity region	933	950	N/A	INTRINSIC
internal_repeat_2	975	1018	8.95e-6	PROSPERO
low complexity region	1019	1036	N/A	INTRINSIC
internal_repeat_2	1040	1080	8.95e-6	PROSPERO
low complexity region	1081	1095	N/A	INTRINSIC
low complexity region	1114	1130	N/A	INTRINSIC
low complexity region	1135	1149	N/A	INTRINSIC
low complexity region	1164	1182	N/A	INTRINSIC
low complexity region	1235	1247	N/A	INTRINSIC
low complexity region	1273	1282	N/A	INTRINSIC
low complexity region	1308	1321	N/A	INTRINSIC
low complexity region	1332	1346	N/A	INTRINSIC
low complexity region	1349	1363	N/A	INTRINSIC
low complexity region	1371	1384	N/A	INTRINSIC
low complexity region	1432	1446	N/A	INTRINSIC
low complexity region	1472	1488	N/A	INTRINSIC
low complexity region	1493	1510	N/A	INTRINSIC
low complexity region	1519	1530	N/A	INTRINSIC
low complexity region	1569	1591	N/A	INTRINSIC
low complexity region	1616	1655	N/A	INTRINSIC
coiled coil region	1693	1723	N/A	INTRINSIC
FN3	1805	1885	1.39e0	SMART
FN3	1901	2002	1.07e-1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000114372
AA Change: C1165S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000110012
Gene: ENSMUSG00000031386
AA Change: C1165S

Domain	Start	End	E-Value	Type
Pfam:Kelch_5	29	67	6.1e-7	PFAM
Pfam:Kelch_1	32	70	5e-8	PFAM
Pfam:Kelch_4	32	80	1.8e-7	PFAM
Pfam:Kelch_3	91	145	1.2e-8	PFAM
Pfam:Kelch_3	215	263	3.4e-9	PFAM
Pfam:Kelch_1	254	309	3.1e-7	PFAM
Pfam:Kelch_3	264	330	8.3e-8	PFAM
PDB:4GO6\|C	360	402	1e-21	PDB
Blast:FN3	364	536	6e-61	BLAST
Blast:FN3	538	602	6e-6	BLAST
low complexity region	639	658	N/A	INTRINSIC
Blast:FN3	740	932	1e-28	BLAST
low complexity region	933	950	N/A	INTRINSIC
internal_repeat_2	975	1018	2.29e-5	PROSPERO
low complexity region	1019	1036	N/A	INTRINSIC
internal_repeat_2	1040	1080	2.29e-5	PROSPERO
low complexity region	1081	1095	N/A	INTRINSIC
low complexity region	1114	1130	N/A	INTRINSIC
low complexity region	1135	1149	N/A	INTRINSIC
low complexity region	1164	1182	N/A	INTRINSIC
low complexity region	1235	1247	N/A	INTRINSIC
low complexity region	1273	1282	N/A	INTRINSIC
low complexity region	1308	1321	N/A	INTRINSIC
low complexity region	1332	1346	N/A	INTRINSIC
low complexity region	1349	1363	N/A	INTRINSIC
low complexity region	1371	1384	N/A	INTRINSIC
low complexity region	1432	1446	N/A	INTRINSIC
low complexity region	1472	1488	N/A	INTRINSIC
low complexity region	1563	1574	N/A	INTRINSIC
low complexity region	1613	1635	N/A	INTRINSIC
low complexity region	1660	1701	N/A	INTRINSIC
coiled coil region	1738	1768	N/A	INTRINSIC
FN3	1850	1930	1.39e0	SMART
FN3	1946	2047	1.07e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000128136

SMART Domains

Protein: ENSMUSP00000115792
Gene: ENSMUSG00000031386

Domain	Start	End	E-Value	Type
low complexity region	1	12	N/A	INTRINSIC
low complexity region	38	54	N/A	INTRINSIC
low complexity region	59	76	N/A	INTRINSIC
low complexity region	85	96	N/A	INTRINSIC
low complexity region	135	157	N/A	INTRINSIC
low complexity region	182	223	N/A	INTRINSIC
coiled coil region	259	289	N/A	INTRINSIC
FN3	372	452	1.39e0	SMART
FN3	468	569	1.07e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131091

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156204

Meta Mutation Damage Score

0.0861

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

Validation Efficiency

100% (47/47)

MGI Phenotype

FUNCTION: This gene encodes a transcription cofactor that regulates the progression of cell cycle and maintain the ability of embryonic stem cells to self-renew. The encoded protein is a large precursor that undergoes site-specific proteolytic cleavage to yield N- and C-terminal chains that form a non-covalent heterodimer. The encoded protein has been implicated in the regulation of expression of immediate early genes after herpes simplex virus infection and glucose-stimulated secretion of insulin by pancreatic beta cells. [provided by RefSeq, Aug 2015]
PHENOTYPE: Conditional loss of the maternally inherited allele is embryonic lethal with increased apoptosis and reduced cell proliferation. Liver-specific knockout leads to decreased liver regeneration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c21	A	G	13: 4,627,374 (GRCm39)	D156G	probably damaging	Het
Ankrd35	C	T	3: 96,590,784 (GRCm39)	Q357*	probably null	Het
Ano2	G	A	6: 125,752,795 (GRCm39)	A191T	probably damaging	Het
Cacna2d1	C	T	5: 16,505,039 (GRCm39)	T331I	probably damaging	Het
Ccdc81	T	G	7: 89,537,006 (GRCm39)	E214A	probably damaging	Het
Cdh4	A	G	2: 179,532,724 (GRCm39)	T729A	probably damaging	Het
Ceacam2	A	G	7: 25,238,295 (GRCm39)	L43P	probably benign	Het
Ces2h	A	T	8: 105,744,715 (GRCm39)	R364S	probably benign	Het
Dcpp3	AGGCCATGCTGGCC	AGGCC	17: 24,136,572 (GRCm39)		probably benign	Het
Entrep1	T	C	19: 23,955,463 (GRCm39)	N385S	probably benign	Het
Epb42	T	A	2: 120,854,589 (GRCm39)		probably benign	Het
Fcgbp	G	A	7: 27,789,098 (GRCm39)	V555M	probably damaging	Het
Ganc	A	T	2: 120,281,320 (GRCm39)	H723L	possibly damaging	Het
Gfra2	A	G	14: 71,203,715 (GRCm39)	D31G	probably damaging	Het
Glrb	A	G	3: 80,752,281 (GRCm39)	I443T	probably benign	Het
Hoxd10	A	G	2: 74,524,507 (GRCm39)	Y273C	probably damaging	Het
Iba57	T	C	11: 59,049,369 (GRCm39)	T267A	probably damaging	Het
Impg2	C	A	16: 56,085,449 (GRCm39)	P943H	probably damaging	Het
Kidins220	A	G	12: 25,048,750 (GRCm39)	T145A	probably damaging	Het
Lmntd1	T	C	6: 145,489,228 (GRCm39)	Y11C	probably benign	Het
Lyst	A	T	13: 13,809,820 (GRCm39)	T497S	possibly damaging	Het
Man1a	G	A	10: 53,809,588 (GRCm39)	H406Y	probably benign	Het
Mme	A	T	3: 63,249,339 (GRCm39)	K289N	possibly damaging	Het
Mrps21	G	A	3: 95,777,895 (GRCm39)		probably benign	Het
Mtor	A	G	4: 148,536,824 (GRCm39)	N33D	possibly damaging	Het
Ncoa1	C	A	12: 4,372,904 (GRCm39)	A166S	probably benign	Het
Ndrg2	A	T	14: 52,147,782 (GRCm39)	F112I	possibly damaging	Het
Neb	A	C	2: 52,113,076 (GRCm39)	F36C	probably benign	Het
Neb	A	G	2: 52,146,299 (GRCm39)	Y2893H	probably damaging	Het
Or8g22	A	G	9: 38,958,162 (GRCm39)	*229Q	probably null	Het
Pcdh15	A	T	10: 74,478,219 (GRCm39)	E231D	possibly damaging	Het
Pih1d2	T	A	9: 50,529,310 (GRCm39)	M1K	probably null	Het
Pla2g4e	T	C	2: 120,001,751 (GRCm39)	N633D	probably benign	Het
Rph3al	C	A	11: 75,799,810 (GRCm39)	G50*	probably null	Het
Rtcb	A	T	10: 85,774,963 (GRCm39)	N477K	possibly damaging	Het
Scn10a	A	G	9: 119,438,979 (GRCm39)	F1630S	probably damaging	Het
Srfbp1	T	C	18: 52,621,373 (GRCm39)	S145P	probably damaging	Het
St7	A	G	6: 17,848,069 (GRCm39)	E211G	possibly damaging	Het
Thbs2	T	C	17: 14,910,527 (GRCm39)	D24G	probably benign	Het
Tlr6	C	A	5: 65,111,835 (GRCm39)	M357I	probably damaging	Het
Tmem168	T	C	6: 13,603,120 (GRCm39)	Y82C	probably damaging	Het
Tnrc18	A	T	5: 142,773,545 (GRCm39)	L245Q	unknown	Het
Vmn1r8	T	C	6: 57,013,444 (GRCm39)	L165P	probably damaging	Het
Vps13b	A	G	15: 35,887,395 (GRCm39)	Y3268C	probably damaging	Het
Zdhhc7	A	G	8: 120,810,066 (GRCm39)	I218T	probably benign	Het
Zfp213	A	G	17: 23,778,485 (GRCm39)	F209S	probably benign	Het

Other mutations in Hcfc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01399:Hcfc1	APN	X	72,993,515 (GRCm39)	missense	possibly damaging	0.92
IGL03191:Hcfc1	APN	X	72,999,220 (GRCm39)	missense	probably benign	0.30
IGL03198:Hcfc1	APN	X	72,994,935 (GRCm39)	missense	possibly damaging	0.69
R0242:Hcfc1	UTSW	X	72,992,035 (GRCm39)	intron	probably benign
R3618:Hcfc1	UTSW	X	72,993,694 (GRCm39)	missense	probably benign	0.14
R4302:Hcfc1	UTSW	X	72,992,972 (GRCm39)	missense	probably benign	0.15
R4785:Hcfc1	UTSW	X	73,009,552 (GRCm39)	missense	probably damaging	0.99
X0021:Hcfc1	UTSW	X	72,995,920 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- ACCATGATAGAGCGGGTTGTG -3'
(R):5'- TGTGAGACTCATGAGACAGGC -3'

Sequencing Primer
(F):5'- ATATGTCTCTGGTTGGCGCCC -3'
(R):5'- GAGACTCATGAGACAGGCACCAC -3'

Posted On

2018-07-24