Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03198:Hcfc1'

412889

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hcfc1

Ensembl Gene

ENSMUSG00000031386

Gene Name

host cell factor C1

Synonyms

VP16 accessory protein, HCF-1, HCF1

Accession Numbers

Essential gene?

Probably essential (E-score: 0.948) question?

Stock #

IGL03198

Quality Score

Status

Chromosome

Chromosomal Location

72986398-73009963 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 72994935 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 924 (I924V)

Ref Sequence

ENSEMBL: ENSMUSP00000110012 (fasta)

Gene Model

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

AlphaFold

Q61191

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033761
AA Change: I924V

PolyPhen 2 Score 0.586 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000033761
Gene: ENSMUSG00000031386
AA Change: I924V

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

possibly damaging
Transcript: ENSMUST00000114372
AA Change: I924V

PolyPhen 2 Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000110012
Gene: ENSMUSG00000031386
AA Change: I924V

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: ENSMUST00000128325

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131091

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156204

Coding Region Coverage

Validation Efficiency

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adhfe1	A	T	1: 9,620,177 (GRCm39)		probably benign	Het
Atp6v0a2	T	C	5: 124,789,425 (GRCm39)		probably null	Het
Brca1	G	T	11: 101,403,537 (GRCm39)		probably benign	Het
Cd55	A	T	1: 130,368,108 (GRCm39)	C372S	probably benign	Het
Clip2	A	T	5: 134,526,936 (GRCm39)		probably benign	Het
Dgkb	A	G	12: 38,186,615 (GRCm39)	N262D	probably damaging	Het
Fam227b	C	T	2: 125,966,499 (GRCm39)		probably null	Het
Foxj2	G	A	6: 122,809,966 (GRCm39)		probably null	Het
Gm4297	T	A	X: 24,418,810 (GRCm39)		probably benign	Het
Grik3	A	G	4: 125,553,555 (GRCm39)	D429G	probably benign	Het
Lrrk1	A	G	7: 65,956,642 (GRCm39)	V411A	probably damaging	Het
Mdh1	A	T	11: 21,514,168 (GRCm39)	V83E	probably damaging	Het
Pa2g4	A	G	10: 128,401,647 (GRCm39)	V17A	probably damaging	Het
Podnl1	G	A	8: 84,858,818 (GRCm39)	V548I	probably benign	Het
Polg	A	G	7: 79,101,470 (GRCm39)	V1079A	probably damaging	Het
Polr2a	G	T	11: 69,638,107 (GRCm39)		probably null	Het
Ptk2	C	T	15: 73,108,065 (GRCm39)	S722N	probably damaging	Het
Rock2	A	G	12: 17,025,508 (GRCm39)	D1243G	probably benign	Het
Sirt4	T	C	5: 115,621,061 (GRCm39)	D37G	probably benign	Het
Slc35d1	T	C	4: 103,042,085 (GRCm39)	Y249C	probably damaging	Het
Snrnp27	A	T	6: 86,659,968 (GRCm39)		probably null	Het
Srek1	T	C	13: 103,881,443 (GRCm39)		probably null	Het
Sspo	A	T	6: 48,454,516 (GRCm39)	I2951F	probably benign	Het
Stxbp3	A	G	3: 108,734,405 (GRCm39)	F40L	probably damaging	Het
Sympk	T	C	7: 18,778,921 (GRCm39)	V604A	possibly damaging	Het
Tbc1d2b	T	C	9: 90,104,510 (GRCm39)	Y544C	probably damaging	Het
Tnpo2	C	T	8: 85,778,347 (GRCm39)	T592I	possibly damaging	Het
Txndc16	T	C	14: 45,388,941 (GRCm39)		probably benign	Het
Ubr5	A	T	15: 38,045,964 (GRCm39)	L120Q	probably damaging	Het
Wdfy4	A	T	14: 32,847,844 (GRCm39)	M836K	probably damaging	Het
Wdr48	A	G	9: 119,741,479 (GRCm39)	N141S	probably benign	Het
Zc3h7a	A	T	16: 10,980,528 (GRCm39)	Y28*	probably null	Het
Zfp423	T	C	8: 88,508,304 (GRCm39)	D659G	possibly 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
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
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

Posted On

2016-08-02