Mutagenetix > Incidental Mutation

Incidental Mutation 'R0096:Fbrs'

16986

Institutional Source

Beutler Lab

Gene Symbol

Fbrs

Ensembl Gene

ENSMUSG00000042423

Gene Name

fibrosin

Synonyms

Fbs1

MMRRC Submission

038382-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.816) question?

Stock #

R0096 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

127078371-127090883 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 127088659 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 145 (A145V)

Ref Sequence

ENSEMBL: ENSMUSP00000146139 (fasta)

Gene Model

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

AlphaFold

Q8R089

Predicted Effect

probably damaging
Transcript: ENSMUST00000048896
AA Change: A233V

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000043682
Gene: ENSMUSG00000042423
AA Change: A233V

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

noncoding transcript
Transcript: ENSMUST00000183486

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196180

Predicted Effect

probably benign
Transcript: ENSMUST00000205432
AA Change: A747V

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205651

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205696

Predicted Effect

unknown
Transcript: ENSMUST00000205803
AA Change: A204V

Predicted Effect

probably damaging
Transcript: ENSMUST00000206394
AA Change: A145V

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

unknown
Transcript: ENSMUST00000206484
AA Change: A177V

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205967

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 90.0%
3x: 87.5%
10x: 81.4%
20x: 72.0%

Validation Efficiency

89% (76/85)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	A	T	8: 106,435,563 (GRCm39)		probably null	Het
Adamts3	G	A	5: 89,849,576 (GRCm39)	Q615*	probably null	Het
Adamtsl3	T	A	7: 82,114,907 (GRCm39)		probably benign	Het
Anks1b	T	C	10: 89,909,924 (GRCm39)	S48P	possibly damaging	Het
Aoc1l2	A	C	6: 48,908,122 (GRCm39)	Q374P	probably damaging	Het
Arhgap42	G	T	9: 9,009,314 (GRCm39)	N524K	probably damaging	Het
Arhgef28	T	G	13: 98,067,762 (GRCm39)	T1388P	probably damaging	Het
Arid4b	T	C	13: 14,303,779 (GRCm39)	V68A	probably benign	Het
Bard1	A	T	1: 71,092,889 (GRCm39)		probably benign	Het
BC005537	T	C	13: 24,989,923 (GRCm39)	F129L	probably damaging	Het
Capn3	A	T	2: 120,333,010 (GRCm39)	H592L	possibly damaging	Het
Cilp	A	G	9: 65,180,952 (GRCm39)	T256A	possibly damaging	Het
Cpne8	T	A	15: 90,384,118 (GRCm39)	I481L	probably benign	Het
Dglucy	A	T	12: 100,804,910 (GRCm39)	I134F	possibly damaging	Het
Dnai2	A	C	11: 114,645,158 (GRCm39)	D531A	probably benign	Het
Dthd1	A	T	5: 63,000,383 (GRCm39)	R568S	possibly damaging	Het
Efr3a	A	G	15: 65,727,290 (GRCm39)	N613S	probably damaging	Het
Ermp1	A	G	19: 29,608,788 (GRCm39)	Y164H	possibly damaging	Het
Gm9873	A	T	2: 168,863,029 (GRCm39)		noncoding transcript	Het
Grik1	T	C	16: 87,831,114 (GRCm39)	M219V	possibly damaging	Het
Gucy1a2	A	T	9: 3,758,928 (GRCm39)		probably benign	Het
Itih5	G	A	2: 10,256,189 (GRCm39)	R885Q	probably benign	Het
Kat2a	A	T	11: 100,597,297 (GRCm39)	V625E	probably damaging	Het
Kdm4c	A	G	4: 74,275,580 (GRCm39)	E752G	probably damaging	Het
Ksr1	A	G	11: 78,929,073 (GRCm39)		probably benign	Het
Lama1	T	A	17: 68,112,408 (GRCm39)	F2283I	probably benign	Het
Luc7l3	A	G	11: 94,192,320 (GRCm39)		probably benign	Het
Map1a	A	G	2: 121,131,986 (GRCm39)	E696G	probably damaging	Het
Mrps34	A	G	17: 25,114,643 (GRCm39)	D110G	probably damaging	Het
Myh11	T	A	16: 14,022,231 (GRCm39)	K1710M	possibly damaging	Het
Myo1d	A	G	11: 80,375,158 (GRCm39)	L972P	probably damaging	Het
Nol4	T	G	18: 23,054,915 (GRCm39)	T58P	possibly damaging	Het
Nos1ap	T	C	1: 170,156,816 (GRCm39)	D214G	probably damaging	Het
Or4c119	A	T	2: 88,986,640 (GRCm39)	M293K	probably benign	Het
Pde4dip	A	C	3: 97,674,783 (GRCm39)	D44E	probably damaging	Het
Pip4k2a	G	A	2: 18,893,850 (GRCm39)		probably benign	Het
Prmt8	T	A	6: 127,709,590 (GRCm39)		probably benign	Het
Pygl	A	T	12: 70,237,940 (GRCm39)		probably benign	Het
Ralgapa1	T	C	12: 55,786,290 (GRCm39)	D643G	probably damaging	Het
Sdk2	A	G	11: 113,793,970 (GRCm39)		probably benign	Het
Skint5	A	T	4: 113,454,965 (GRCm39)		probably benign	Het
Slc27a6	T	C	18: 58,731,829 (GRCm39)		probably benign	Het
Spata46	C	T	1: 170,139,603 (GRCm39)	Q201*	probably null	Het
Sptbn1	A	T	11: 30,064,739 (GRCm39)	V1920E	probably damaging	Het
Sycp2	G	T	2: 178,045,528 (GRCm39)	Q31K	probably damaging	Het
Taf6l	A	G	19: 8,755,881 (GRCm39)	F256L	probably benign	Het
Tektl1	T	A	10: 78,584,539 (GRCm39)	I328L	probably benign	Het
Trf	A	G	9: 103,099,358 (GRCm39)	F300L	probably damaging	Het
Vmn2r105	A	G	17: 20,447,741 (GRCm39)	F361S	possibly damaging	Het
Vmn2r79	A	G	7: 86,686,527 (GRCm39)	Y636C	probably damaging	Het
Wdr59	T	C	8: 112,231,005 (GRCm39)	N68D	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
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
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

Posted On

2013-01-20