Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00492:Fcf1'

10748

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fcf1

Ensembl Gene

ENSMUSG00000021243

Gene Name

FCF1 rRNA processing protein

Synonyms

1110008B24Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.924) question?

Stock #

IGL00492

Quality Score

Status

Chromosome

Chromosomal Location

85017704-85030077 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 85029106 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000131190 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021669] [ENSMUST00000171040]

AlphaFold

Q9CTH6

Predicted Effect

probably null
Transcript: ENSMUST00000021669

SMART Domains

Protein: ENSMUSP00000021669
Gene: ENSMUSG00000021243

Domain	Start	End	E-Value	Type
low complexity region	23	40	N/A	INTRINSIC
PINc	67	166	5.75e-12	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000171040

SMART Domains

Protein: ENSMUSP00000131190
Gene: ENSMUSG00000021243

Domain	Start	End	E-Value	Type
low complexity region	11	28	N/A	INTRINSIC
PINc	55	154	5.75e-12	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172241

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap29	G	T	3: 121,796,961 (GRCm39)	E108*	probably null	Het
Braf	A	T	6: 39,637,933 (GRCm39)		probably null	Het
Calr3	G	A	8: 73,185,240 (GRCm39)	Q112*	probably null	Het
Dis3	A	G	14: 99,320,110 (GRCm39)	I649T	probably damaging	Het
Dop1b	T	C	16: 93,577,670 (GRCm39)	V65A	probably benign	Het
Dpp4	A	G	2: 62,209,646 (GRCm39)	Y126H	probably damaging	Het
Dtwd2	A	T	18: 49,856,776 (GRCm39)	Y170*	probably null	Het
Efcab7	A	G	4: 99,719,700 (GRCm39)	T61A	probably benign	Het
Fbxl3	G	T	14: 103,332,730 (GRCm39)	L83M	probably damaging	Het
Fbxo17	A	C	7: 28,434,766 (GRCm39)	S184R	probably damaging	Het
Hcrtr2	T	C	9: 76,153,723 (GRCm39)	Y223C	probably damaging	Het
Kcnn1	A	G	8: 71,300,706 (GRCm39)	F432S	probably benign	Het
Kmt2a	C	T	9: 44,719,231 (GRCm39)		probably benign	Het
Lce1j	T	C	3: 92,696,713 (GRCm39)	T22A	unknown	Het
Lrfn5	T	A	12: 61,890,912 (GRCm39)	S734T	probably benign	Het
Lyst	T	A	13: 13,852,760 (GRCm39)	S2253R	possibly damaging	Het
Msantd5f1	C	T	4: 73,605,570 (GRCm39)	T327I	probably damaging	Het
Myrfl	G	A	10: 116,632,011 (GRCm39)	L645F	possibly damaging	Het
Nudt9	A	G	5: 104,209,628 (GRCm39)		probably benign	Het
Ostn	T	A	16: 27,140,132 (GRCm39)	M15K	possibly damaging	Het
Psg20	T	C	7: 18,408,536 (GRCm39)	T395A	possibly damaging	Het
Rpf1	G	A	3: 146,218,002 (GRCm39)	H171Y	probably benign	Het
Shprh	A	G	10: 11,063,902 (GRCm39)	E1325G	probably damaging	Het
Slc22a8	G	T	19: 8,571,499 (GRCm39)	V77L	probably benign	Het
Tbck	A	C	3: 132,428,501 (GRCm39)	K285N	probably benign	Het
Vmn1r86	C	T	7: 12,836,468 (GRCm39)	C86Y	possibly damaging	Het
Zdhhc20	A	G	14: 58,111,381 (GRCm39)	I73T	probably damaging	Het
Zfp512b	T	C	2: 181,228,862 (GRCm39)	D701G	probably damaging	Het
Zfp735	T	A	11: 73,602,192 (GRCm39)	Y379N	possibly damaging	Het
Znfx1	G	T	2: 166,878,843 (GRCm39)	H980Q	probably damaging	Het

Other mutations in Fcf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00561:Fcf1	APN	12	85,019,835 (GRCm39)	missense	probably benign	0.00
IGL02319:Fcf1	APN	12	85,017,982 (GRCm39)	splice site	probably null
H8562:Fcf1	UTSW	12	85,027,386 (GRCm39)	splice site	probably benign
R0387:Fcf1	UTSW	12	85,019,776 (GRCm39)	missense	probably benign
R4790:Fcf1	UTSW	12	85,020,902 (GRCm39)	missense	probably benign	0.06
R5823:Fcf1	UTSW	12	85,020,921 (GRCm39)	missense	possibly damaging	0.77
R6050:Fcf1	UTSW	12	85,029,017 (GRCm39)	missense	probably damaging	1.00
R9405:Fcf1	UTSW	12	85,021,013 (GRCm39)	missense	probably benign	0.00

Posted On

2012-12-06