Mutagenetix > Incidental Mutations

Incidental Mutation 'R6988:Fbrs'

543083

Institutional Source

Beutler Lab

Gene Symbol

Fbrs

Ensembl Gene

ENSMUSG00000042423

Gene Name

fibrosin

Synonyms

Fbs1

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.790) question?

Stock #

R6988 (G1)

Quality Score

167.009

Status

Not validated

Chromosome

Chromosomal Location

127479199-127491711 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to A at 127479508 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000145988 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033095] [ENSMUST00000106292] [ENSMUST00000205432] [ENSMUST00000206394] [ENSMUST00000206915]

Predicted Effect

probably benign
Transcript: ENSMUST00000033095

SMART Domains

Protein: ENSMUSP00000033095
Gene: ENSMUSG00000030822

Domain	Start	End	E-Value	Type
low complexity region	241	256	N/A	INTRINSIC
low complexity region	263	273	N/A	INTRINSIC
low complexity region	297	309	N/A	INTRINSIC
low complexity region	364	387	N/A	INTRINSIC
Pfam:Tantalus	485	545	5.6e-28	PFAM
low complexity region	554	564	N/A	INTRINSIC
low complexity region	587	603	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106292

SMART Domains

Protein: ENSMUSP00000101899
Gene: ENSMUSG00000030822

Domain	Start	End	E-Value	Type
low complexity region	241	256	N/A	INTRINSIC
low complexity region	263	273	N/A	INTRINSIC
low complexity region	297	309	N/A	INTRINSIC
low complexity region	364	387	N/A	INTRINSIC
Pfam:Tantalus	487	544	1.7e-26	PFAM
low complexity region	554	564	N/A	INTRINSIC
low complexity region	587	603	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000132819

Predicted Effect

unknown
Transcript: ENSMUST00000205432
AA Change: G104R

Predicted Effect

probably benign
Transcript: ENSMUST00000206394

Predicted Effect

probably benign
Transcript: ENSMUST00000206915

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.2%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013G24Rik	T	G	4: 137,454,579	L15W	probably damaging	Het
4930550C14Rik	G	A	9: 53,411,756	V31I	possibly damaging	Het
4932415D10Rik	T	C	10: 82,291,899	D1759G	possibly damaging	Het
Adgre1	C	T	17: 57,408,445	S255F	probably benign	Het
Aff4	T	G	11: 53,398,237	S404R	probably damaging	Het
Akr1c19	A	T	13: 4,233,758		probably benign	Het
Ankrd31	T	A	13: 96,878,249	I1342K	probably damaging	Het
Arhgap5	T	A	12: 52,518,125	D626E	possibly damaging	Het
Arhgef1	G	A	7: 24,916,923	V332I	probably benign	Het
AY358078	A	G	14: 51,826,187	E430G	probably damaging	Het
B4gat1	T	A	19: 5,040,434	I395N	probably benign	Het
Bub1b	T	A	2: 118,636,830	I878N	probably damaging	Het
Ccdc150	C	T	1: 54,355,709	Q745*	probably null	Het
Ccl19	A	T	4: 42,754,885	I87N	probably damaging	Het
Ces2g	G	C	8: 104,963,908	G107A	probably benign	Het
Chpt1	A	G	10: 88,488,406	V180A	probably damaging	Het
Col2a1	T	C	15: 98,004,454	T14A	unknown	Het
Dnah7a	T	C	1: 53,582,625	I1114V	possibly damaging	Het
Dnah7c	T	C	1: 46,666,213	I2462T	possibly damaging	Het
Dnah8	T	C	17: 30,643,275	F208S	probably damaging	Het
Dnhd1	A	G	7: 105,714,210	E3993G	probably damaging	Het
Erv3	C	T	2: 131,855,966	D158N	possibly damaging	Het
Exoc6	T	A	19: 37,609,091	F647I	probably damaging	Het
Fgfr1op2	T	C	6: 146,589,965	F109L	probably damaging	Het
Fv1	T	C	4: 147,869,271	F98S	possibly damaging	Het
Gm436	A	G	4: 144,686,325	F15S	probably benign	Het
H2-M10.1	T	C	17: 36,325,592	K107E	probably benign	Het
Hspg2	A	T	4: 137,528,890	Q1436L	probably damaging	Het
Ighv1-74	T	C	12: 115,802,763	Y79C	probably damaging	Het
Kcnj1	G	A	9: 32,396,585	V102I	probably benign	Het
Mnt	C	A	11: 74,842,809		probably benign	Het
Mrpl15	T	C	1: 4,782,660	T112A	probably benign	Het
Ncdn	T	C	4: 126,747,189	D506G	probably benign	Het
Ogdh	C	T	11: 6,313,806	R81*	probably null	Het
Olfr791	T	A	10: 129,526,673	S149T	probably benign	Het
Olfr815	G	C	10: 129,902,409	F100L	probably damaging	Het
Pole	G	T	5: 110,329,583	V1863F	probably damaging	Het
Pramel5	T	C	4: 144,274,007		probably benign	Het
Rabep1	A	G	11: 70,934,537	K636E	probably damaging	Het
Rasgrf2	T	A	13: 91,885,635	Y1151F	probably benign	Het
Rrad	A	G	8: 104,630,636	V93A	probably damaging	Het
Sesn3	A	T	9: 14,310,257	R118*	probably null	Het
Slc27a3	T	C	3: 90,386,290	N596S	probably benign	Het
Snx19	C	A	9: 30,428,935	D456E	probably damaging	Het
Supt20	T	C	3: 54,698,597	S35P	probably damaging	Het
Syde2	G	T	3: 146,019,809	R885L	probably benign	Het
Synm	G	A	7: 67,733,658	L1419F	probably damaging	Het
Tcrg-V6	G	T	13: 19,190,644	G40W	possibly damaging	Het
Tekt2	A	G	4: 126,323,443	F221L	probably benign	Het
Ticam1	C	T	17: 56,269,900	E732K	probably benign	Het
Tmem39b	A	G	4: 129,693,148	I90T	possibly damaging	Het
Trib2	A	G	12: 15,815,338	S79P	probably damaging	Het
Usp32	T	C	11: 85,010,143	M1084V	probably benign	Het
Vmn1r181	T	C	7: 23,984,847	F246L	probably damaging	Het
Wnt16	A	G	6: 22,288,511	D2G	probably damaging	Het
Zfp462	A	G	4: 55,080,716	E1357G	probably benign	Het
Zhx3	A	G	2: 160,779,868	M793T	probably benign	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
R5797:Fbrs	UTSW	7	127487291	missense	probably damaging	1.00
R5952:Fbrs	UTSW	7	127487752	missense	probably damaging	0.99
R6659:Fbrs	UTSW	7	127487919	missense	probably damaging	1.00
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

Predicted Primers

PCR Primer
(F):5'- CTGTTTTAAAGAGGAAGCCGG -3'
(R):5'- CATCCTCTGTAAGGGCTATACC -3'

Sequencing Primer
(F):5'- TCCCGTCCCTGTGCAAG -3'
(R):5'- TTCTGACCCACCTCCCAAAG -3'

Posted On

2018-11-28