Mutagenetix > Incidental Mutation

Incidental Mutation 'R0180:Frg1'

23821

Institutional Source

Beutler Lab

Gene Symbol

Frg1

Ensembl Gene

ENSMUSG00000031590

Gene Name

FSHD region gene 1

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.147) question?

Stock #

R0180 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

41850496-41870111 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to A at 41852105 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000033999 (fasta)

Gene Model

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

AlphaFold

P97376

PDB Structure

Solution structure of mouse FRG1 protein [SOLUTION NMR]

Predicted Effect

probably null
Transcript: ENSMUST00000033999

SMART Domains

Protein: ENSMUSP00000033999
Gene: ENSMUSG00000031590

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

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.8%
20x: 89.5%

Validation Efficiency

77% (53/69)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059E24Rik	T	A	19: 21,630,003 (GRCm39)	N24Y	probably damaging	Het
2810408A11Rik	A	T	11: 69,789,702 (GRCm39)	M311K	probably benign	Het
Ackr2	T	C	9: 121,737,982 (GRCm39)	I119T	probably benign	Het
Adamtsl3	A	G	7: 82,225,198 (GRCm39)	M336V	probably benign	Het
Adhfe1	T	A	1: 9,634,082 (GRCm39)	F374I	probably benign	Het
Apob	C	T	12: 8,058,285 (GRCm39)	Q2256*	probably null	Het
Arg1	T	C	10: 24,792,728 (GRCm39)	I169V	probably benign	Het
Atxn1	A	G	13: 45,711,024 (GRCm39)	V636A	probably damaging	Het
B3gnt5	T	A	16: 19,587,850 (GRCm39)	I23K	possibly damaging	Het
Catsperg1	A	T	7: 28,889,856 (GRCm39)		probably null	Het
Celf3	T	A	3: 94,392,647 (GRCm39)	F115L	probably damaging	Het
Cep192	T	A	18: 67,968,559 (GRCm39)	H984Q	probably damaging	Het
Col18a1	A	G	10: 76,932,351 (GRCm39)	V493A	probably benign	Het
Col5a2	C	T	1: 45,450,620 (GRCm39)	G376S	probably damaging	Het
Colec12	A	G	18: 9,848,890 (GRCm39)	H356R	probably damaging	Het
Colec12	C	T	18: 9,858,921 (GRCm39)	P568L	unknown	Het
Cracr2a	T	C	6: 127,581,037 (GRCm39)		probably null	Het
Ctsr	T	C	13: 61,310,559 (GRCm39)	H62R	probably damaging	Het
Cyp4f40	G	T	17: 32,878,641 (GRCm39)	W61L	probably benign	Het
Dnah9	T	G	11: 66,038,116 (GRCm39)	H140P	probably damaging	Het
Dnai7	A	G	6: 145,128,944 (GRCm39)		probably benign	Het
Dnm1	T	G	2: 32,218,005 (GRCm39)	I464L	probably damaging	Het
Dnmt1	G	A	9: 20,819,916 (GRCm39)	T1409I	probably damaging	Het
Dock1	G	A	7: 134,700,566 (GRCm39)	D1109N	probably damaging	Het
Efhc1	A	G	1: 21,037,713 (GRCm39)	M297V	probably benign	Het
Emcn	A	T	3: 137,124,755 (GRCm39)		probably null	Het
Ephb1	A	T	9: 101,804,703 (GRCm39)	M905K	probably damaging	Het
Fbxw10	A	G	11: 62,743,922 (GRCm39)	Y276C	probably benign	Het
Fermt3	C	A	19: 6,979,711 (GRCm39)	S474I	possibly damaging	Het
Gbf1	T	C	19: 46,274,161 (GRCm39)	S1732P	probably benign	Het
Gbp8	A	C	5: 105,179,142 (GRCm39)	L119R	probably damaging	Het
Gldc	C	T	19: 30,078,217 (GRCm39)	A927T	possibly damaging	Het
Gm8836	T	A	6: 70,237,389 (GRCm39)		probably benign	Het
Grhl3	C	T	4: 135,281,841 (GRCm39)	V344I	probably benign	Het
Hhipl1	T	A	12: 108,294,329 (GRCm39)	L745H	probably damaging	Het
Ido1	T	C	8: 25,083,156 (GRCm39)	I90V	possibly damaging	Het
Itpr2	T	A	6: 146,403,407 (GRCm39)		probably benign	Het
Kif1b	T	G	4: 149,298,116 (GRCm39)	S1029R	probably damaging	Het
Kmt2a	G	A	9: 44,738,148 (GRCm39)		probably benign	Het
Limk1	T	C	5: 134,698,115 (GRCm39)	N215D	probably damaging	Het
Lims2	A	G	18: 32,089,368 (GRCm39)	K144E	probably benign	Het
Mfsd6l	A	T	11: 68,447,371 (GRCm39)	Q74L	possibly damaging	Het
Mroh1	T	A	15: 76,312,450 (GRCm39)	S546T	probably damaging	Het
Ncbp3	T	A	11: 72,955,804 (GRCm39)		probably null	Het
Nlrx1	G	A	9: 44,166,756 (GRCm39)	H776Y	possibly damaging	Het
Nptxr	T	C	15: 79,678,604 (GRCm39)	M228V	probably benign	Het
Nsf	T	A	11: 103,821,606 (GRCm39)	L13F	probably damaging	Het
Nyap1	T	C	5: 137,736,283 (GRCm39)	E68G	probably damaging	Het
Or10p22	A	T	10: 128,826,703 (GRCm39)	R307S	possibly damaging	Het
Or51r1	A	G	7: 102,228,239 (GRCm39)	Y179C	probably damaging	Het
Pcdhb9	A	G	18: 37,535,307 (GRCm39)	N434D	probably damaging	Het
Pgm5	T	C	19: 24,793,127 (GRCm39)	D313G	probably damaging	Het
Pkdcc	G	A	17: 83,529,299 (GRCm39)		probably null	Het
Pkp1	T	C	1: 135,814,538 (GRCm39)	K261R	probably benign	Het
Pnpla6	A	G	8: 3,574,250 (GRCm39)		probably null	Het
Polr3b	A	G	10: 84,458,379 (GRCm39)	T17A	probably benign	Het
Ppt2	A	T	17: 34,845,477 (GRCm39)	M98K	probably damaging	Het
Rasal3	T	C	17: 32,618,379 (GRCm39)	D142G	probably benign	Het
Rbm17	G	A	2: 11,592,590 (GRCm39)	S295L	probably benign	Het
Rhbdf1	A	T	11: 32,160,042 (GRCm39)	V153D	possibly damaging	Het
Slc6a3	C	T	13: 73,710,455 (GRCm39)	T355M	probably damaging	Het
Snrnp35	A	T	5: 124,628,883 (GRCm39)		probably benign	Het
Sorcs2	A	T	5: 36,311,189 (GRCm39)	I37N	probably damaging	Het
Tecta	G	T	9: 42,278,109 (GRCm39)	P1133Q	probably benign	Het
Tmem145	A	G	7: 25,014,124 (GRCm39)	I413V	probably benign	Het
Trappc11	G	T	8: 47,981,009 (GRCm39)	T144K	possibly damaging	Het
Triml2	A	T	8: 43,643,346 (GRCm39)	I223L	probably benign	Het
Ube2g2	T	A	10: 77,466,573 (GRCm39)	N19K	possibly damaging	Het
Ubqln3	A	G	7: 103,791,047 (GRCm39)	Y348H	probably damaging	Het
Wfs1	A	G	5: 37,124,372 (GRCm39)	F840L	probably damaging	Het
Zc3h11a	T	C	1: 133,549,349 (GRCm39)	I771V	probably benign	Het
Zdhhc23	G	A	16: 43,794,066 (GRCm39)	P203S	probably benign	Het
Zfp106	T	G	2: 120,364,356 (GRCm39)	T684P	probably damaging	Het
Zfp217	A	T	2: 169,962,057 (GRCm39)	L90Q	probably damaging	Het

Other mutations in Frg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01541:Frg1	APN	8	41,863,362 (GRCm39)	splice site	probably benign
IGL01562:Frg1	APN	8	41,869,946 (GRCm39)	missense	possibly damaging	0.92
IGL03148:Frg1	APN	8	41,864,321 (GRCm39)	missense	probably benign	0.00
R1146:Frg1	UTSW	8	41,864,254 (GRCm39)	splice site	probably benign
R2427:Frg1	UTSW	8	41,867,903 (GRCm39)	missense	probably damaging	1.00
R3861:Frg1	UTSW	8	41,860,820 (GRCm39)	splice site	probably null
R4672:Frg1	UTSW	8	41,853,846 (GRCm39)	missense	probably benign	0.30
R5981:Frg1	UTSW	8	41,863,307 (GRCm39)	missense	possibly damaging	0.93
R7672:Frg1	UTSW	8	41,870,040 (GRCm39)	start gained	probably benign
Z1176:Frg1	UTSW	8	41,852,675 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CCTGGTGGCTAACATGGTAACTGC -3'
(R):5'- TGTTCCAGACATGAGGGCTTCAAC -3'

Sequencing Primer
(F):5'- GCTAACATGGTAACTGCTAACTGC -3'
(R):5'- GTGTTAGGAAAACGTTTA -3'

Posted On

2013-04-16