Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01562:Frg1'

90864

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Frg1

Ensembl Gene

ENSMUSG00000031590

Gene Name

FSHD region gene 1

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

IGL01562

Quality Score

Status

Chromosome

Chromosomal Location

41397459-41417074 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41416909 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 18 (K18R)

Ref Sequence

ENSEMBL: ENSMUSP00000033999 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033999]

PDB Structure

Solution structure of mouse FRG1 protein [SOLUTION NMR]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033999
AA Change: K18R

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000033999
Gene: ENSMUSG00000031590
AA Change: K18R

Domain	Start	End	E-Value	Type
low complexity region	20	38	N/A	INTRINSIC
Pfam:FRG1	67	256	4.2e-82	PFAM
Pfam:Fascin	92	180	3.6e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210873

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene maps to a location 100 kb centromeric of the repeat units on chromosome 4q35 which are deleted in facioscapulohumeral muscular dystrophy (FSHD). It is evolutionarily conserved and has related sequences on multiple human chromosomes but DNA sequence analysis did not reveal any homology to known genes. In vivo studies demonstrate the encoded protein is localized to the nucleolus. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 14 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Crym	A	G	7: 120,195,399	V199A	probably damaging	Het
Dsel	T	C	1: 111,860,319	T829A	probably benign	Het
H2-M10.5	A	G	17: 36,773,776	S131G	possibly damaging	Het
Ift172	A	T	5: 31,267,247	I701N	probably damaging	Het
Il5ra	T	C	6: 106,731,904	I292V	probably benign	Het
Nup98	A	G	7: 102,185,918	S243P	probably damaging	Het
Pramef25	A	G	4: 143,950,865	L48S	probably damaging	Het
Ptgis	T	C	2: 167,206,830	Y422C	probably damaging	Het
Senp2	T	C	16: 22,009,687	C16R	probably damaging	Het
St7	T	A	6: 17,922,035	L411Q	probably damaging	Het
Tanc2	A	T	11: 105,780,069	Y164F	probably benign	Het
Ttc23l	T	C	15: 10,551,390		probably benign	Het
Vmn2r66	G	T	7: 85,007,287	Q174K	probably benign	Het
Wrap73	A	G	4: 154,145,337	E55G	possibly damaging	Het

Other mutations in Frg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01541:Frg1	APN	8	41410325	splice site	probably benign
IGL03148:Frg1	APN	8	41411284	missense	probably benign	0.00
R0180:Frg1	UTSW	8	41399068	critical splice acceptor site	probably null
R1146:Frg1	UTSW	8	41411217	splice site	probably benign
R2427:Frg1	UTSW	8	41414866	missense	probably damaging	1.00
R3861:Frg1	UTSW	8	41407783	splice site	probably null
R4672:Frg1	UTSW	8	41400809	missense	probably benign	0.30
R5981:Frg1	UTSW	8	41410270	missense	possibly damaging	0.93
R7672:Frg1	UTSW	8	41417003	start gained	probably benign
Z1176:Frg1	UTSW	8	41399638	nonsense	probably null

Posted On

2013-12-09