Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00722:Frg2f1'

12427

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Frg2f1

Ensembl Gene

ENSMUSG00000087385

Gene Name

FSHD region gene 2 family member 1

Synonyms

AA415398

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.153) question?

Stock #

IGL00722

Quality Score

Status

Chromosome

Chromosomal Location

119387505-119395966 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 119388307 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Lysine at position 64 (R64K)

Ref Sequence

ENSEMBL: ENSMUSP00000078560 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079611]

AlphaFold

Q6P3A2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000079611
AA Change: R64K

PolyPhen 2 Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000078560
Gene: ENSMUSG00000087385
AA Change: R64K

Domain	Start	End	E-Value	Type
low complexity region	62	72	N/A	INTRINSIC
Pfam:FRG2	75	190	4.8e-35	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137671

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149305

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177165

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000178059

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 12 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp1	T	C	12: 30,947,792 (GRCm39)	D82G	probably damaging	Het
Alpk1	A	G	3: 127,473,862 (GRCm39)	S714P	probably benign	Het
Atp11b	T	C	3: 35,874,084 (GRCm39)	I491T	probably damaging	Het
Hibch	T	C	1: 52,940,479 (GRCm39)	V216A	probably damaging	Het
Mttp	C	A	3: 137,814,776 (GRCm39)	V500F	possibly damaging	Het
Osbpl9	T	C	4: 108,929,207 (GRCm39)	I397V	probably damaging	Het
Rpusd4	T	A	9: 35,179,714 (GRCm39)	V69D	possibly damaging	Het
Setd2	T	C	9: 110,380,204 (GRCm39)	S1340P	possibly damaging	Het
Stk17b	T	C	1: 53,803,299 (GRCm39)	S167G	probably damaging	Het
Strn	T	C	17: 78,999,849 (GRCm39)	D129G	possibly damaging	Het
Wdr44	T	C	X: 23,598,548 (GRCm39)		probably benign	Het
Zfp558	G	T	9: 18,367,817 (GRCm39)	P324T	probably damaging	Het

Other mutations in Frg2f1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02347:Frg2f1	APN	4	119,387,929 (GRCm39)	missense	probably damaging	1.00
IGL02458:Frg2f1	APN	4	119,388,154 (GRCm39)	missense	probably damaging	0.99
R1610:Frg2f1	UTSW	4	119,388,485 (GRCm39)	missense	possibly damaging	0.91
R1842:Frg2f1	UTSW	4	119,388,277 (GRCm39)	missense	possibly damaging	0.59
R3872:Frg2f1	UTSW	4	119,388,155 (GRCm39)	missense	possibly damaging	0.95
R5080:Frg2f1	UTSW	4	119,388,230 (GRCm39)	missense	possibly damaging	0.95
R6870:Frg2f1	UTSW	4	119,388,329 (GRCm39)	missense	probably benign	0.03
R7473:Frg2f1	UTSW	4	119,387,990 (GRCm39)	missense	probably benign	0.16
R8996:Frg2f1	UTSW	4	119,388,085 (GRCm39)	missense	probably damaging	0.97

Posted On

2012-12-06