Mutagenetix > Incidental Mutation

Incidental Mutation 'R4302:Hcfc1'

322478

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

041089-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.951) question?

Stock #

R4302 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

72986398-73009963 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 72992972 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1398 (S1398P)

Ref Sequence

ENSEMBL: ENSMUSP00000033761 (fasta)

Gene Model

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

AlphaFold

Q61191

PDB Structure

NMR structure of the C-terminal domain of the protein HCFC1 from Mus musculus [SOLUTION NMR]

Predicted Effect

probably benign
Transcript: ENSMUST00000033761
AA Change: S1398P

PolyPhen 2 Score 0.151 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000033761
Gene: ENSMUSG00000031386
AA Change: S1398P

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 benign
Transcript: ENSMUST00000114372
AA Change: S1398P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000110012
Gene: ENSMUSG00000031386
AA Change: S1398P

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

0.0978

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (42/42)

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agl	T	C	3: 116,540,279 (GRCm39)	Y1445C	probably damaging	Het
Arhgef12	G	A	9: 42,929,645 (GRCm39)	Q217*	probably null	Het
Bcas1	A	G	2: 170,260,547 (GRCm39)	V44A	probably benign	Het
Cfap251	T	C	5: 123,431,873 (GRCm39)	I549T	probably benign	Het
Clic4	A	G	4: 134,953,350 (GRCm39)	V98A	probably benign	Het
Col6a3	A	T	1: 90,735,336 (GRCm39)	I771N	probably damaging	Het
Creb3l1	T	C	2: 91,823,664 (GRCm39)	I183V	probably damaging	Het
Dnhd1	T	A	7: 105,343,161 (GRCm39)	W1502R	probably damaging	Het
Dync2h1	A	T	9: 7,077,880 (GRCm39)	S2941T	probably benign	Het
Gm973	A	G	1: 59,590,399 (GRCm39)	Y302C	possibly damaging	Het
Igsf10	T	C	3: 59,226,171 (GRCm39)	I2501V	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Loxl4	T	A	19: 42,596,030 (GRCm39)	Y141F	probably benign	Het
Man2a2	T	A	7: 80,001,487 (GRCm39)	E1140V	possibly damaging	Het
Mgam	A	G	6: 40,740,019 (GRCm39)	D1664G	probably benign	Het
Mill2	A	T	7: 18,590,456 (GRCm39)	T179S	probably damaging	Het
Ncf4	T	C	15: 78,144,962 (GRCm39)		probably benign	Het
Nol12	T	C	15: 78,824,341 (GRCm39)	S154P	probably damaging	Het
Nup58	A	G	14: 60,484,875 (GRCm39)	S50P	probably benign	Het
Or11j4	T	C	14: 50,630,903 (GRCm39)	I230T	probably benign	Het
Or12d16-ps1	T	A	17: 37,706,377 (GRCm39)	N315K	probably benign	Het
Or7g30	A	G	9: 19,352,295 (GRCm39)	T29A	probably benign	Het
Pdss1	T	C	2: 22,805,517 (GRCm39)	I265T	probably damaging	Het
Piezo2	T	C	18: 63,257,801 (GRCm39)		probably null	Het
Rad50	T	A	11: 53,592,832 (GRCm39)	N106I	probably benign	Het
Rhpn2	A	G	7: 35,090,270 (GRCm39)	T631A	probably benign	Het
Rps11	T	C	7: 44,772,368 (GRCm39)	M80V	probably benign	Het
Rrm1	T	C	7: 102,097,031 (GRCm39)	Y104H	probably benign	Het
Sgsm3	T	A	15: 80,894,502 (GRCm39)		probably benign	Het
Slc9c1	A	T	16: 45,365,154 (GRCm39)	L162F	probably benign	Het
Son	A	G	16: 91,455,299 (GRCm39)	T1349A	possibly damaging	Het
Stk24	A	G	14: 121,529,494 (GRCm39)	L386S	probably benign	Het
Tfcp2	G	T	15: 100,412,730 (GRCm39)	N307K	possibly damaging	Het
Trbv21	T	A	6: 41,179,702 (GRCm39)	V6D	probably benign	Het
Trip11	A	T	12: 101,860,027 (GRCm39)	D282E	probably damaging	Het
Ttn	G	T	2: 76,706,811 (GRCm39)		probably benign	Het
Vmn2r129	G	T	4: 156,686,692 (GRCm39)		noncoding transcript	Het
Vmn2r38	A	G	7: 9,100,562 (GRCm39)		probably null	Het
Vps8	T	A	16: 21,314,664 (GRCm39)	L158Q	probably damaging	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
R4785:Hcfc1	UTSW	X	73,009,552 (GRCm39)	missense	probably damaging	0.99
R6711:Hcfc1	UTSW	X	72,993,671 (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'- ACTTACCTTGGTTTGAGCTCATG -3'
(R):5'- TCAGCGAGTATGCTCCAACC -3'

Sequencing Primer
(F):5'- AGCTCATGTTAGAGGTGACAGTG -3'
(R):5'- GCCTTGTGAGACTCATGAGAC -3'

Posted On

2015-06-20