Mutagenetix > Incidental Mutation

Incidental Mutation 'R8458:Fbrs'

655123

Institutional Source

Beutler Lab

Gene Symbol

Fbrs

Ensembl Gene

ENSMUSG00000042423

Gene Name

fibrosin

Synonyms

Fbs1

MMRRC Submission

067835-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.816) question?

Stock #

R8458 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

127078371-127090883 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 127082329 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 327 (R327W)

Ref Sequence

ENSEMBL: ENSMUSP00000145783 (fasta)

Gene Model

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

AlphaFold

Q8R089

Predicted Effect

probably benign
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 damaging
Transcript: ENSMUST00000205432
AA Change: R327W

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000205803

Predicted Effect

probably benign
Transcript: ENSMUST00000206394

Predicted Effect

probably benign
Transcript: ENSMUST00000206484

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts20	T	A	15: 94,251,521 (GRCm39)	H422L	probably benign	Het
Adgra3	G	T	5: 50,145,013 (GRCm39)	P527T	probably damaging	Het
Afg1l	A	G	10: 42,302,517 (GRCm39)	V161A	probably damaging	Het
Als2cl	A	C	9: 110,714,025 (GRCm39)	E65A	probably damaging	Het
Arl3	A	C	19: 46,546,709 (GRCm39)	S39A	probably benign	Het
Cacna1a	T	C	8: 85,276,087 (GRCm39)	V560A	probably damaging	Het
Ccr10	C	T	11: 101,064,982 (GRCm39)	G183R	probably damaging	Het
Celsr2	T	A	3: 108,306,218 (GRCm39)	T2029S	probably benign	Het
Chkb	A	T	15: 89,312,376 (GRCm39)	V213E	possibly damaging	Het
Chst5	A	G	8: 112,617,422 (GRCm39)	V66A	probably damaging	Het
Crx	C	A	7: 15,602,031 (GRCm39)	A216S	possibly damaging	Het
Ctnnd1	T	C	2: 84,444,287 (GRCm39)	D556G	probably damaging	Het
Cyp4a14	C	A	4: 115,353,129 (GRCm39)	G61V	probably damaging	Het
Cyp4f17	T	A	17: 32,739,550 (GRCm39)	F157L	probably damaging	Het
Dnah12	A	T	14: 26,548,849 (GRCm39)		probably null	Het
Dnah14	A	C	1: 181,633,577 (GRCm39)	H4P		Het
Dnah7a	T	C	1: 53,657,142 (GRCm39)	D878G	probably benign	Het
Epb41l1	C	T	2: 156,363,684 (GRCm39)	T731I	probably benign	Het
Epg5	G	C	18: 77,991,946 (GRCm39)	E214D	probably benign	Het
Fam171b	A	G	2: 83,690,864 (GRCm39)	T276A	probably benign	Het
Fat4	G	A	3: 39,035,702 (GRCm39)	R3118H	probably benign	Het
Fmo3	A	G	1: 162,794,509 (GRCm39)	V187A	possibly damaging	Het
Gins1	T	C	2: 150,772,807 (GRCm39)	V190A	probably benign	Het
Gm17067	T	C	7: 42,358,155 (GRCm39)	S116G	probably damaging	Het
Gm5478	A	G	15: 101,553,862 (GRCm39)	V250A	probably benign	Het
Gpr85	T	C	6: 13,836,848 (GRCm39)	T19A	probably benign	Het
Hepacam2	T	C	6: 3,483,358 (GRCm39)	N217S	probably damaging	Het
Igf1r	T	C	7: 67,845,377 (GRCm39)	Y889H	probably benign	Het
Itpr2	T	G	6: 146,135,464 (GRCm39)	R1822S	possibly damaging	Het
Kcnk7	C	T	19: 5,754,407 (GRCm39)		probably benign	Het
Klk1	T	C	7: 43,874,933 (GRCm39)	S11P	probably damaging	Het
Klra7	C	T	6: 130,201,109 (GRCm39)	G216R	probably damaging	Het
Krt34	T	C	11: 99,930,901 (GRCm39)	D167G	probably damaging	Het
Larp1b	A	C	3: 40,930,995 (GRCm39)	E291D	probably benign	Het
Lats1	T	A	10: 7,586,688 (GRCm39)	L950*	probably null	Het
Lrrc2	A	C	9: 110,799,218 (GRCm39)	D255A	probably damaging	Het
Lrrc49	A	T	9: 60,505,456 (GRCm39)	M605K	probably benign	Het
Mocos	A	G	18: 24,799,314 (GRCm39)	K183E	probably benign	Het
Mpl	C	A	4: 118,301,213 (GRCm39)		probably null	Het
Mroh9	T	A	1: 162,883,250 (GRCm39)	T410S	probably damaging	Het
Notch3	T	C	17: 32,375,024 (GRCm39)	E430G	probably damaging	Het
Nsun6	T	C	2: 15,034,863 (GRCm39)	T252A	probably benign	Het
Ntrk1	C	A	3: 87,698,976 (GRCm39)		probably null	Het
Nts	G	T	10: 102,320,921 (GRCm39)	T56N	probably damaging	Het
Nup210l	A	G	3: 90,092,874 (GRCm39)	D1276G	probably null	Het
Or4c12b	G	T	2: 89,647,494 (GRCm39)	V269F	probably damaging	Het
Or51a10	C	A	7: 103,698,875 (GRCm39)	A229S	possibly damaging	Het
Or5b105	T	C	19: 13,079,840 (GRCm39)	Y276C	probably damaging	Het
Osbpl8	A	G	10: 111,113,177 (GRCm39)	S535G	possibly damaging	Het
Pax9	A	G	12: 56,743,550 (GRCm39)	I66V	possibly damaging	Het
Pja2	A	G	17: 64,599,843 (GRCm39)	V547A	probably damaging	Het
Plekhs1	T	C	19: 56,465,590 (GRCm39)	L185S	probably benign	Het
Prkdc	T	A	16: 15,608,540 (GRCm39)		probably null	Het
Ptgdr2	A	T	19: 10,917,785 (GRCm39)	T101S	possibly damaging	Het
Ptprd	T	C	4: 75,984,496 (GRCm39)	D550G	probably benign	Het
Ptx3	G	T	3: 66,128,419 (GRCm39)	R160L	probably benign	Het
Rdh16f1	A	C	10: 127,624,714 (GRCm39)	E184A	probably damaging	Het
Rfx3	C	T	19: 27,771,072 (GRCm39)	E560K	possibly damaging	Het
Scgb2b24	T	C	7: 33,436,779 (GRCm39)	Q111R	probably benign	Het
Spart	A	G	3: 55,032,315 (GRCm39)	D383G	probably damaging	Het
Stpg3	C	A	2: 25,103,333 (GRCm39)	R252L	probably damaging	Het
Tcp11l2	C	T	10: 84,449,396 (GRCm39)	Q454*	probably null	Het
Trav10d	A	G	14: 53,048,780 (GRCm39)	Y57C	probably damaging	Het
Vmn1r170	T	A	7: 23,306,321 (GRCm39)	M241K	possibly damaging	Het
Vwa8	T	A	14: 79,302,332 (GRCm39)	N1000K	probably damaging	Het
Wdsub1	T	C	2: 59,692,045 (GRCm39)	E329G	probably benign	Het
Wnk4	C	A	11: 101,166,147 (GRCm39)	C891*	probably null	Het
Zdhhc16	G	T	19: 41,928,093 (GRCm39)	C204F	probably damaging	Het
Zfp868	T	C	8: 70,064,559 (GRCm39)	I259V	possibly damaging	Het
Zranb3	G	T	1: 127,920,647 (GRCm39)	Q426K	probably damaging	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
R8199:Fbrs	UTSW	7	127,086,956 (GRCm39)	critical splice donor site	probably null
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'- CTAAAGTGTCGGGCCTGGA -3'
(R):5'- AGTCAATGTAAGACTCCAACATGT -3'

Sequencing Primer
(F):5'- TTTCCCCCCAAAGGATCCA -3'
(R):5'- CTGTGGCAGATGCACATTAC -3'

Posted On

2020-10-20