Mutagenetix > Incidental Mutations

Incidental Mutation 'R5797:Fbrs'

447273

Institutional Source

Beutler Lab

Gene Symbol

Fbrs

Ensembl Gene

ENSMUSG00000042423

Gene Name

fibrosin

Synonyms

Fbs1

MMRRC Submission

043209-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.794) question?

Stock #

R5797 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

127479199-127491711 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 127487291 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 604 (H604Q)

Ref Sequence

ENSEMBL: ENSMUSP00000145783 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000048896
AA Change: H90Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000043682
Gene: ENSMUSG00000042423
AA Change: H90Q

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 damaging
Transcript: ENSMUST00000205432
AA Change: H604Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205651

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205696

Predicted Effect

unknown
Transcript: ENSMUST00000205803
AA Change: H61Q

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205967

Predicted Effect

probably damaging
Transcript: ENSMUST00000206394
AA Change: H2Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

unknown
Transcript: ENSMUST00000206484
AA Change: H56Q

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206980

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.7%
20x: 96.3%

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430573F11Rik	A	T	8: 36,498,415	K30*	probably null	Het
Abhd18	T	C	3: 40,933,551	F277L	probably benign	Het
Acsf2	A	G	11: 94,571,679	V170A	probably damaging	Het
Amz2	G	T	11: 109,427,079		probably benign	Het
Atp4a	A	G	7: 30,712,649	Y65C	probably damaging	Het
Canx	T	C	11: 50,301,017	I356V	probably benign	Het
Cfap54	T	A	10: 92,967,576	T1535S	probably benign	Het
Cts3	A	T	13: 61,568,392	W52R	probably damaging	Het
Cyb5rl	A	T	4: 107,084,207	E276D	possibly damaging	Het
Dhx30	T	C	9: 110,098,820	N78S	probably damaging	Het
Dmap1	A	T	4: 117,675,480	V333E	possibly damaging	Het
Dnah10	A	G	5: 124,821,386	E3744G	probably benign	Het
Efcab6	C	T	15: 83,924,277	C828Y	possibly damaging	Het
Fam227b	A	C	2: 126,007,334	I326S	probably benign	Het
Fshr	T	G	17: 89,011,075	N129T	probably damaging	Het
Gja3	T	C	14: 57,035,713	R401G	probably damaging	Het
Gm572	G	A	4: 148,666,798	M209I	probably benign	Het
Gne	G	A	4: 44,060,030	T121M	probably damaging	Het
Gnmt	T	C	17: 46,726,379	N160D	probably damaging	Het
Kalrn	T	C	16: 34,212,249	Y1125C	probably damaging	Het
Kif2a	A	T	13: 106,975,376	C524S	probably damaging	Het
Kl	A	G	5: 150,991,538	N910S	possibly damaging	Het
Lrrtm2	C	T	18: 35,213,706	R181H	probably damaging	Het
Mkln1	A	G	6: 31,433,069	D214G	probably benign	Het
Muc5b	C	A	7: 141,851,582	T909N	unknown	Het
Myh13	T	A	11: 67,335,002	D335E	possibly damaging	Het
Myo5b	A	G	18: 74,701,521	E884G	probably benign	Het
Naip1	T	C	13: 100,444,526	D71G	possibly damaging	Het
Nxpe4	T	A	9: 48,396,538	I314N	possibly damaging	Het
Pcnt	T	C	10: 76,392,756	E1525G	probably benign	Het
Pkd1	T	A	17: 24,592,641	H153Q	possibly damaging	Het
Prkdc	T	A	16: 15,737,834	Y2157*	probably null	Het
Scd3	T	C	19: 44,215,511	I46T	probably benign	Het
Sdha	A	T	13: 74,334,357	M279K	probably damaging	Het
Slco4c1	A	G	1: 96,819,104	V671A	probably benign	Het
Slitrk3	T	A	3: 73,048,629	T937S	probably damaging	Het
Sncaip	A	T	18: 52,898,204	T442S	probably benign	Het
Sptb	T	C	12: 76,603,699	D1748G	possibly damaging	Het
Vmn2r12	A	T	5: 109,085,870	C825*	probably null	Het

Other mutations in Fbrs

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02476:Fbrs	APN	7	127487669	missense	probably damaging	1.00
R0096:Fbrs	UTSW	7	127489487	missense	probably damaging	0.99
R0096:Fbrs	UTSW	7	127489487	missense	probably damaging	0.99
R0133:Fbrs	UTSW	7	127489610	splice site	probably benign
R1579:Fbrs	UTSW	7	127485357	missense	probably damaging	1.00
R1617:Fbrs	UTSW	7	127487711	missense	probably damaging	1.00
R1640:Fbrs	UTSW	7	127487311	missense	probably damaging	1.00
R1958:Fbrs	UTSW	7	127485991	missense	possibly damaging	0.48
R2426:Fbrs	UTSW	7	127487339	splice site	probably null
R5952:Fbrs	UTSW	7	127487752	missense	probably damaging	0.99
R6659:Fbrs	UTSW	7	127487919	missense	probably damaging	1.00
R6988:Fbrs	UTSW	7	127479508	unclassified	probably benign
R7055:Fbrs	UTSW	7	127487784	critical splice donor site	probably null
R7319:Fbrs	UTSW	7	127482813	missense	possibly damaging	0.94
R7349:Fbrs	UTSW	7	127482799	missense	probably damaging	0.99
R7423:Fbrs	UTSW	7	127489461	nonsense	probably null
R7760:Fbrs	UTSW	7	127489400	missense	probably damaging	0.96
R8199:Fbrs	UTSW	7	127487784	critical splice donor site	probably null
R8458:Fbrs	UTSW	7	127483157	missense	probably damaging	0.98
R8459:Fbrs	UTSW	7	127483157	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TCTCAGGCTGCATGAGGTTG -3'
(R):5'- AGAACCCGGGTGCTATAGAAC -3'

Sequencing Primer
(F):5'- AGGGCTTTTAAGTCACAGCC -3'
(R):5'- CCCGGGTGCTATAGAACTGCTTAG -3'

Posted On

2016-12-15