Mutagenetix > Incidental Mutation

Incidental Mutation 'R2426:Fbrs'

250219

Institutional Source

Beutler Lab

Gene Symbol

Fbrs

Ensembl Gene

ENSMUSG00000042423

Gene Name

fibrosin

Synonyms

Fbs1

MMRRC Submission

040388-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.781) question?

Stock #

R2426 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

127479199-127491711 bp(+) (GRCm38)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

A to G at 127487339 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

noncoding transcript
Transcript: ENSMUST00000183486

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196180

Predicted Effect

probably null
Transcript: ENSMUST00000205432

Predicted Effect

probably null
Transcript: ENSMUST00000205432

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205651

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205696

Predicted Effect

probably null
Transcript: ENSMUST00000205803

Predicted Effect

probably null
Transcript: ENSMUST00000205803

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205967

Predicted Effect

probably null
Transcript: ENSMUST00000206394

Predicted Effect

probably null
Transcript: ENSMUST00000206394

Predicted Effect

probably null
Transcript: ENSMUST00000206484

Predicted Effect

probably null
Transcript: ENSMUST00000206484

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206980

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.8%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	T	A	11: 23,576,801	R190W	probably damaging	Het
Abca14	G	T	7: 120,283,223	V1203L	probably benign	Het
Adamtsl1	G	A	4: 86,156,788	V131I	probably benign	Het
Adgra3	A	T	5: 50,009,449	M187K	possibly damaging	Het
Agbl1	T	C	7: 76,421,902	V324A	probably damaging	Het
Ahnak	A	T	19: 9,002,851	I500F	possibly damaging	Het
Aldh1l1	A	G	6: 90,598,284	D851G	probably damaging	Het
Amot	T	C	X: 145,476,291	K460E	probably damaging	Het
Arhgef3	G	T	14: 27,384,181	E161*	probably null	Het
Atg9b	A	T	5: 24,386,994	I669N	probably damaging	Het
AY761184	T	G	8: 21,702,637	K114N	possibly damaging	Het
Ccdc83	A	G	7: 90,228,431	Y268H	probably damaging	Het
Cep170	A	G	1: 176,774,635	S302P	probably benign	Het
Cyp4a31	T	A	4: 115,571,016	M303K	probably damaging	Het
Cyp4v3	T	A	8: 45,317,776	Y231F	probably benign	Het
Dock3	A	T	9: 106,914,541	L1411Q	possibly damaging	Het
Dsg1a	T	A	18: 20,336,804	I629N	probably damaging	Het
Dst	A	T	1: 34,192,812	H2837L	probably benign	Het
Fam114a2	G	A	11: 57,493,080	P343L	probably benign	Het
Fbxl13	A	C	5: 21,522,137	D620E	probably damaging	Het
Frmd4a	T	A	2: 4,529,862	S164T	probably damaging	Het
Gdi2	T	G	13: 3,562,034	S330A	probably benign	Het
Gm5878	A	T	6: 85,118,631	M70K	probably benign	Het
H2-Q6	G	T	17: 35,424,937	A21S	probably benign	Het
Hfm1	A	T	5: 106,847,653		probably null	Het
Hnmt	C	T	2: 24,019,155	C82Y	probably benign	Het
Il1rl1	C	A	1: 40,446,619	A310D	probably damaging	Het
Ints1	A	T	5: 139,771,814		probably null	Het
Kcne4	C	A	1: 78,817,971	A112E	possibly damaging	Het
Krt32	T	C	11: 100,086,366	K236R	possibly damaging	Het
Maml2	T	C	9: 13,706,498	L380P	probably damaging	Het
Meis1	A	T	11: 18,988,356	D218E	possibly damaging	Het
Mon1b	G	A	8: 113,639,120	G360D	probably damaging	Het
Mpp4	A	G	1: 59,130,057	S383P	probably damaging	Het
Neb	A	G	2: 52,169,053		probably null	Het
Nlgn2	A	T	11: 69,827,086	I431N	probably damaging	Het
Nr2e1	A	G	10: 42,563,485	L134P	probably damaging	Het
Olfr329-ps	A	T	11: 58,543,094	Y127*	probably null	Het
Olfr371	T	C	8: 85,231,064	S190P	probably damaging	Het
Olfr777	T	C	10: 129,269,266	Q19R	probably benign	Het
Opcml	G	A	9: 28,903,367		probably null	Het
Pate2	A	T	9: 35,670,480		probably null	Het
Pgr	G	A	9: 8,900,717	V84M	probably damaging	Het
Pigu	A	T	2: 155,299,082	V296D	probably damaging	Het
Plcb2	G	A	2: 118,715,649	T555M	probably damaging	Het
Pld5	T	G	1: 175,963,976	D426A	probably benign	Het
Prdm2	G	T	4: 143,111,750	C1679*	probably null	Het
Psme2b	A	T	11: 48,946,063	V19D	probably benign	Het
Ptpn9	A	T	9: 57,027,428	N159Y	possibly damaging	Het
Sdc3	A	T	4: 130,818,803	T64S	unknown	Het
Serping1	T	G	2: 84,770,219	S260R	probably damaging	Het
Slc20a1	T	C	2: 129,208,230	F436S	probably benign	Het
Sntb1	A	T	15: 55,906,179	I138N	probably damaging	Het
Sorcs3	A	T	19: 48,722,925	Y643F	probably damaging	Het
Spink1	G	T	18: 43,735,222	S23*	probably null	Het
Stag1	T	C	9: 100,845,116		probably null	Het
Tnfaip8l1	G	A	17: 56,172,030	V107I	probably benign	Het
Tnik	A	G	3: 28,646,681	S907G	probably damaging	Het
Ttf1	T	A	2: 29,067,185	M489K	probably damaging	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Usp54	G	A	14: 20,564,940	A811V	probably benign	Het
Xirp2	A	G	2: 67,514,471	N2352S	probably benign	Het
Zan	T	C	5: 137,388,992	Y4933C	unknown	Het
Zbtb8a	A	G	4: 129,360,219	S161P	probably benign	Het
Zkscan5	A	T	5: 145,220,940	I751L	probably benign	Het
Zscan4d	A	G	7: 11,165,095	F85S	probably damaging	Het
Zzef1	A	G	11: 72,915,265	M2647V	probably benign	Het

Other mutations in Fbrs

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02476:Fbrs	APN	7	127,487,669 (GRCm38)	missense	probably damaging	1.00
R0096:Fbrs	UTSW	7	127,489,487 (GRCm38)	missense	probably damaging	0.99
R0096:Fbrs	UTSW	7	127,489,487 (GRCm38)	missense	probably damaging	0.99
R0133:Fbrs	UTSW	7	127,489,610 (GRCm38)	splice site	probably benign
R1579:Fbrs	UTSW	7	127,485,357 (GRCm38)	missense	probably damaging	1.00
R1617:Fbrs	UTSW	7	127,487,711 (GRCm38)	missense	probably damaging	1.00
R1640:Fbrs	UTSW	7	127,487,311 (GRCm38)	missense	probably damaging	1.00
R1958:Fbrs	UTSW	7	127,485,991 (GRCm38)	missense	possibly damaging	0.48
R5797:Fbrs	UTSW	7	127,487,291 (GRCm38)	missense	probably damaging	1.00
R5952:Fbrs	UTSW	7	127,487,752 (GRCm38)	missense	probably damaging	0.99
R6659:Fbrs	UTSW	7	127,487,919 (GRCm38)	missense	probably damaging	1.00
R6988:Fbrs	UTSW	7	127,479,508 (GRCm38)	unclassified	probably benign
R7055:Fbrs	UTSW	7	127,487,784 (GRCm38)	critical splice donor site	probably null
R7319:Fbrs	UTSW	7	127,482,813 (GRCm38)	missense	possibly damaging	0.94
R7349:Fbrs	UTSW	7	127,482,799 (GRCm38)	missense	probably damaging	0.99
R7423:Fbrs	UTSW	7	127,489,461 (GRCm38)	nonsense	probably null
R7760:Fbrs	UTSW	7	127,489,400 (GRCm38)	missense	probably damaging	0.96
R8199:Fbrs	UTSW	7	127,487,784 (GRCm38)	critical splice donor site	probably null
R8458:Fbrs	UTSW	7	127,483,157 (GRCm38)	missense	probably damaging	0.98
R8459:Fbrs	UTSW	7	127,483,157 (GRCm38)	missense	probably damaging	0.98
R8818:Fbrs	UTSW	7	127,479,522 (GRCm38)	missense	unknown
R9433:Fbrs	UTSW	7	127,485,100 (GRCm38)	missense	probably benign	0.03

Predicted Primers

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

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

Posted On

2014-11-12