Mutagenetix > Incidental Mutation

Incidental Mutation 'R8199:Fbrs'

635591

Institutional Source

Beutler Lab

Gene Symbol

Fbrs

Ensembl Gene

ENSMUSG00000042423

Gene Name

fibrosin

Synonyms

Fbs1

MMRRC Submission

067622-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.828) question?

Stock #

R8199 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

127078371-127090883 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 127086956 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048896] [ENSMUST00000205432] [ENSMUST00000206394]

AlphaFold

Q8R089

Predicted Effect

probably null
Transcript: ENSMUST00000048896

SMART Domains

Protein: ENSMUSP00000043682
Gene: ENSMUSG00000042423

Domain	Start	End	E-Value	Type
low complexity region	22	36	N/A	INTRINSIC
Pfam:Auts2	82	282	4.8e-73	PFAM
low complexity region	298	310	N/A	INTRINSIC
SCOP:d1gkub1	311	336	3e-6	SMART
low complexity region	341	361	N/A	INTRINSIC
low complexity region	371	382	N/A	INTRINSIC
low complexity region	416	428	N/A	INTRINSIC
low complexity region	435	464	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000205432

Predicted Effect

probably null
Transcript: ENSMUST00000205803

Predicted Effect

probably null
Transcript: ENSMUST00000206394

Predicted Effect

probably null
Transcript: ENSMUST00000206484

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Fibrosin is a lymphokine secreted by activated lymphocytes that induces fibroblast proliferation (Prakash and Robbins, 1998 [PubMed 9809749]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	T	C	7: 41,275,304 (GRCm39)	Y336H	probably damaging	Het
4930563I02Rik	A	G	14: 60,333,388 (GRCm39)	I42M	noncoding transcript	Het
Acad9	T	C	3: 36,139,572 (GRCm39)	S391P	probably damaging	Het
Aven	C	T	2: 112,390,120 (GRCm39)	R8W	probably benign	Het
Cacna1c	T	C	6: 118,651,545 (GRCm39)	T972A	probably benign	Het
Col25a1	G	A	3: 130,345,628 (GRCm39)	G406E	probably damaging	Het
Coro2b	T	G	9: 62,336,302 (GRCm39)	I267L	probably benign	Het
Cst12	A	G	2: 148,631,459 (GRCm39)	N60S	probably benign	Het
Dnah8	A	T	17: 31,090,393 (GRCm39)	I4632F	probably benign	Het
Eif3d	C	T	15: 77,844,292 (GRCm39)	C404Y	possibly damaging	Het
Elapor2	C	T	5: 9,470,657 (GRCm39)	T260M	probably damaging	Het
Fam43a	A	T	16: 30,419,586 (GRCm39)	K57*	probably null	Het
Fcnb	C	T	2: 27,968,330 (GRCm39)	S209N	possibly damaging	Het
Fggy	G	A	4: 95,700,381 (GRCm39)	E351K	probably benign	Het
Gabra6	G	A	11: 42,207,280 (GRCm39)	S268L	probably damaging	Het
Gatm	A	G	2: 122,432,994 (GRCm39)	Y223H	probably damaging	Het
Gli3	T	A	13: 15,900,576 (GRCm39)	M1321K	probably benign	Het
Hira	G	A	16: 18,766,194 (GRCm39)	A669T	probably benign	Het
Hoxa5	T	C	6: 52,181,240 (GRCm39)	S31G	probably benign	Het
Kdm2a	T	A	19: 4,439,054 (GRCm39)	Q25L	unknown	Het
Loxhd1	C	A	18: 77,469,334 (GRCm39)	N1000K	possibly damaging	Het
Mpdu1	C	T	11: 69,548,069 (GRCm39)	W235*	probably null	Het
Msantd2	G	C	9: 37,400,789 (GRCm39)	G57A	probably benign	Het
Nat1	A	G	8: 67,943,650 (GRCm39)	R9G	probably damaging	Het
Nbl1	G	A	4: 138,810,880 (GRCm39)	P105S	probably damaging	Het
Or2j3	T	C	17: 38,615,444 (GRCm39)	R303G	probably benign	Het
Or52e4	A	C	7: 104,705,852 (GRCm39)	Q133P	probably damaging	Het
Or8b54	G	A	9: 38,686,577 (GRCm39)	V9M	noncoding transcript	Het
Pdzrn3	T	C	6: 101,128,918 (GRCm39)	S583G	probably damaging	Het
Prpf4	A	G	4: 62,340,866 (GRCm39)	D427G	probably damaging	Het
Ptpn21	T	A	12: 98,644,841 (GRCm39)	I1167F	possibly damaging	Het
Rasgrp1	T	A	2: 117,124,293 (GRCm39)	H303L	probably damaging	Het
Ros1	T	A	10: 51,977,813 (GRCm39)	K1499*	probably null	Het
Skida1	C	A	2: 18,052,959 (GRCm39)	L64F	probably damaging	Het
St3gal5	T	C	6: 72,119,175 (GRCm39)	Y123H	probably benign	Het
Syk	T	C	13: 52,778,768 (GRCm39)	S285P	probably benign	Het
Syt4	T	C	18: 31,577,268 (GRCm39)	T29A	probably benign	Het
Trav7-3	A	G	14: 53,681,099 (GRCm39)	D47G	possibly damaging	Het
Trpm7	A	G	2: 126,691,918 (GRCm39)	F146L	probably damaging	Het
Utp20	A	T	10: 88,634,337 (GRCm39)	D786E	probably benign	Het
Uts2	G	A	4: 151,086,115 (GRCm39)	C117Y	possibly damaging	Het
Zfp553	T	C	7: 126,835,468 (GRCm39)	L341P	probably damaging	Het
Zfp994	T	A	17: 22,419,204 (GRCm39)	K582*	probably null	Het

Other mutations in Fbrs

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02476:Fbrs	APN	7	127,086,841 (GRCm39)	missense	probably damaging	1.00
R0096:Fbrs	UTSW	7	127,088,659 (GRCm39)	missense	probably damaging	0.99
R0096:Fbrs	UTSW	7	127,088,659 (GRCm39)	missense	probably damaging	0.99
R0133:Fbrs	UTSW	7	127,088,782 (GRCm39)	splice site	probably benign
R1579:Fbrs	UTSW	7	127,084,529 (GRCm39)	missense	probably damaging	1.00
R1617:Fbrs	UTSW	7	127,086,883 (GRCm39)	missense	probably damaging	1.00
R1640:Fbrs	UTSW	7	127,086,483 (GRCm39)	missense	probably damaging	1.00
R1958:Fbrs	UTSW	7	127,085,163 (GRCm39)	missense	possibly damaging	0.48
R2426:Fbrs	UTSW	7	127,086,511 (GRCm39)	splice site	probably null
R5797:Fbrs	UTSW	7	127,086,463 (GRCm39)	missense	probably damaging	1.00
R5952:Fbrs	UTSW	7	127,086,924 (GRCm39)	missense	probably damaging	0.99
R6659:Fbrs	UTSW	7	127,087,091 (GRCm39)	missense	probably damaging	1.00
R6988:Fbrs	UTSW	7	127,078,680 (GRCm39)	unclassified	probably benign
R7055:Fbrs	UTSW	7	127,086,956 (GRCm39)	critical splice donor site	probably null
R7319:Fbrs	UTSW	7	127,081,985 (GRCm39)	missense	possibly damaging	0.94
R7349:Fbrs	UTSW	7	127,081,971 (GRCm39)	missense	probably damaging	0.99
R7423:Fbrs	UTSW	7	127,088,633 (GRCm39)	nonsense	probably null
R7760:Fbrs	UTSW	7	127,088,572 (GRCm39)	missense	probably damaging	0.96
R8458:Fbrs	UTSW	7	127,082,329 (GRCm39)	missense	probably damaging	0.98
R8459:Fbrs	UTSW	7	127,082,329 (GRCm39)	missense	probably damaging	0.98
R8818:Fbrs	UTSW	7	127,078,694 (GRCm39)	missense	unknown
R9433:Fbrs	UTSW	7	127,084,272 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- CAAGCTCTTGGAGGGAAGTTAGTG -3'
(R):5'- TGGCTCTTACCAATGTGGGTAC -3'

Sequencing Primer
(F):5'- TCTTGGAGGGAAGTTAGTGGTAAAAG -3'
(R):5'- ACCAATGTGGGTACTGGGGC -3'

Posted On

2020-07-13