Mutagenetix > Incidental Mutation

Incidental Mutation 'R5823:Fcf1'

450046

Institutional Source

Beutler Lab

Gene Symbol

Fcf1

Ensembl Gene

ENSMUSG00000021243

Gene Name

FCF1 rRNA processing protein

Synonyms

1110008B24Rik

MMRRC Submission

043215-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.924) question?

Stock #

R5823 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

85017704-85030077 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85020921 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 55 (Y55C)

Ref Sequence

ENSEMBL: ENSMUSP00000131190 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021669] [ENSMUST00000043169] [ENSMUST00000163231] [ENSMUST00000165886] [ENSMUST00000167448] [ENSMUST00000171040]

AlphaFold

Q9CTH6

Predicted Effect

probably benign
Transcript: ENSMUST00000021669
AA Change: Y67C

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000021669
Gene: ENSMUSG00000021243
AA Change: Y67C

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

Predicted Effect

probably benign
Transcript: ENSMUST00000043169

SMART Domains

Protein: ENSMUSP00000048780
Gene: ENSMUSG00000042350

Domain	Start	End	E-Value	Type
transmembrane domain	2	19	N/A	INTRINSIC
IG_FLMN	56	160	4.53e-2	SMART
low complexity region	346	360	N/A	INTRINSIC
Blast:HECTc	401	474	6e-39	BLAST
HECTc	481	823	1.04e-158	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000163231

SMART Domains

Protein: ENSMUSP00000129213
Gene: ENSMUSG00000042350

Domain	Start	End	E-Value	Type
transmembrane domain	2	19	N/A	INTRINSIC
IG_FLMN	56	160	4.53e-2	SMART
low complexity region	346	360	N/A	INTRINSIC
Blast:HECTc	386	474	1e-51	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000165886

SMART Domains

Protein: ENSMUSP00000126508
Gene: ENSMUSG00000042350

Domain	Start	End	E-Value	Type
transmembrane domain	4	26	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000167448

SMART Domains

Protein: ENSMUSP00000127426
Gene: ENSMUSG00000042350

Domain	Start	End	E-Value	Type
transmembrane domain	4	26	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000171040
AA Change: Y55C

PolyPhen 2 Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000131190
Gene: ENSMUSG00000021243
AA Change: Y55C

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

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
Acsl3	G	T	1: 78,666,003 (GRCm39)	R143L	probably benign	Het
Ankrd11	A	T	8: 123,622,529 (GRCm39)	I420K	probably benign	Het
Aoc1l2	T	A	6: 48,907,486 (GRCm39)	I162N	probably damaging	Het
Cwh43	A	G	5: 73,569,213 (GRCm39)	E85G	probably benign	Het
Dnah1	G	T	14: 30,988,375 (GRCm39)	F3442L	possibly damaging	Het
Dock6	T	A	9: 21,716,124 (GRCm39)	N1737I	probably damaging	Het
Fer1l6	T	A	15: 58,462,352 (GRCm39)	Y802*	probably null	Het
Fgf9	T	G	14: 58,320,759 (GRCm39)	S10A	probably damaging	Het
Fhad1	A	G	4: 141,682,617 (GRCm39)	I508T	possibly damaging	Het
Flnc	T	C	6: 29,461,201 (GRCm39)	V2692A	probably damaging	Het
Gm38119	G	T	3: 92,645,380 (GRCm39)	H71Q	unknown	Het
Hcn1	A	T	13: 117,739,388 (GRCm39)	H50L	unknown	Het
Helz2	T	C	2: 180,878,189 (GRCm39)	T870A	possibly damaging	Het
Iqcf4	T	C	9: 106,445,800 (GRCm39)	I116V	probably benign	Het
Lama5	T	A	2: 179,834,285 (GRCm39)	I1383F	probably benign	Het
Lmo2	C	T	2: 103,811,417 (GRCm39)	T150I	probably damaging	Het
Mgat4f	T	A	1: 134,318,655 (GRCm39)	W476R	probably damaging	Het
Myh13	A	G	11: 67,251,294 (GRCm39)	E1391G	probably damaging	Het
Mylk	T	A	16: 34,715,317 (GRCm39)		probably null	Het
Nat10	A	T	2: 103,560,612 (GRCm39)	V731D	probably damaging	Het
Ncapd2	A	G	6: 125,145,663 (GRCm39)	V1328A	probably benign	Het
Nfu1	C	A	6: 87,002,541 (GRCm39)	Q207K	probably damaging	Het
Nipsnap2	T	A	5: 129,816,833 (GRCm39)		probably null	Het
Npc1	T	C	18: 12,324,846 (GRCm39)	K1216E	possibly damaging	Het
Or2r3	C	A	6: 42,448,906 (GRCm39)	V69L	probably benign	Het
Phf3	T	C	1: 30,843,764 (GRCm39)	I1732V	probably damaging	Het
Rasgrp4	G	T	7: 28,837,142 (GRCm39)	R67L	probably benign	Het
Rubcn	T	C	16: 32,670,091 (GRCm39)	D88G	probably damaging	Het
Slc30a2	T	C	4: 134,073,289 (GRCm39)	I112T	probably damaging	Het
Slc35d2	A	G	13: 64,268,419 (GRCm39)	I78T	probably damaging	Het
Slc9a4	T	A	1: 40,658,277 (GRCm39)	M600K	probably damaging	Het
Slfn8	A	G	11: 82,907,562 (GRCm39)	I327T	probably benign	Het
Tas2r118	A	G	6: 23,969,470 (GRCm39)	I197T	probably benign	Het
Tex15	A	G	8: 34,060,962 (GRCm39)	I405V	possibly damaging	Het
Thsd7b	T	C	1: 129,605,821 (GRCm39)	S521P	probably benign	Het
Trim36	A	G	18: 46,302,407 (GRCm39)	L535P	probably damaging	Het
Trim63	A	T	4: 134,043,842 (GRCm39)	I102F	probably damaging	Het
Wdr47	G	A	3: 108,550,401 (GRCm39)	V809M	probably damaging	Het

Other mutations in Fcf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00492:Fcf1	APN	12	85,029,106 (GRCm39)	critical splice donor site	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- GAGCCTGAAAATAGCATGCTGTC -3'
(R):5'- GGCCCTTGGATAACTTACTGGG -3'

Sequencing Primer
(F):5'- CTTTCCTGCCTACAGTGAAAAAGGG -3'
(R):5'- TGGATAACTTACTGGGTCTTCAC -3'

Posted On

2016-12-20