Mutagenetix > Incidental Mutation

Incidental Mutation 'R5025:Fbrsl1'

391293

Institutional Source

Beutler Lab

Gene Symbol

Fbrsl1

Ensembl Gene

ENSMUSG00000043323

Gene Name

fibrosin-like 1

Synonyms

LOC381668, 2410025L10Rik, Gm29766

MMRRC Submission

042616-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R5025 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

110509617-110596369 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 110565767 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 179 (D179G)

Ref Sequence

ENSEMBL: ENSMUSP00000063879 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069483] [ENSMUST00000196801] [ENSMUST00000198768]

AlphaFold

E9Q9T0

Predicted Effect

probably damaging
Transcript: ENSMUST00000069483
AA Change: D179G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000063879
Gene: ENSMUSG00000043323
AA Change: D179G

Domain	Start	End	E-Value	Type
low complexity region	6	30	N/A	INTRINSIC
low complexity region	31	45	N/A	INTRINSIC
low complexity region	52	71	N/A	INTRINSIC
low complexity region	180	201	N/A	INTRINSIC
low complexity region	269	286	N/A	INTRINSIC
low complexity region	293	308	N/A	INTRINSIC
low complexity region	335	348	N/A	INTRINSIC
low complexity region	377	410	N/A	INTRINSIC
low complexity region	476	493	N/A	INTRINSIC
low complexity region	496	514	N/A	INTRINSIC
Pfam:Auts2	564	767	1.9e-95	PFAM
low complexity region	902	918	N/A	INTRINSIC
low complexity region	936	951	N/A	INTRINSIC
low complexity region	966	980	N/A	INTRINSIC
low complexity region	981	997	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000196801
AA Change: D179G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000142625
Gene: ENSMUSG00000043323
AA Change: D179G

Domain	Start	End	E-Value	Type
low complexity region	6	30	N/A	INTRINSIC
low complexity region	31	45	N/A	INTRINSIC
low complexity region	52	71	N/A	INTRINSIC
low complexity region	180	201	N/A	INTRINSIC
low complexity region	269	286	N/A	INTRINSIC
low complexity region	293	308	N/A	INTRINSIC
low complexity region	335	348	N/A	INTRINSIC
low complexity region	377	410	N/A	INTRINSIC
low complexity region	447	456	N/A	INTRINSIC
low complexity region	489	497	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000198768
AA Change: D16G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000142379
Gene: ENSMUSG00000043323
AA Change: D16G

Domain	Start	End	E-Value	Type
low complexity region	17	38	N/A	INTRINSIC
low complexity region	106	123	N/A	INTRINSIC
low complexity region	130	145	N/A	INTRINSIC
low complexity region	172	185	N/A	INTRINSIC
low complexity region	219	232	N/A	INTRINSIC

Meta Mutation Damage Score

0.0648

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	T	A	7: 119,153,719 (GRCm39)	F10I	unknown	Het
Adad1	G	T	3: 37,119,359 (GRCm39)	A147S	probably damaging	Het
Atg14	T	G	14: 47,783,273 (GRCm39)	N354T	probably damaging	Het
Brip1	T	A	11: 85,955,806 (GRCm39)	E902D	probably benign	Het
Brwd1	A	G	16: 95,855,172 (GRCm39)	S419P	probably damaging	Het
Camsap3	A	G	8: 3,654,244 (GRCm39)	K638R	probably damaging	Het
Dennd4c	T	A	4: 86,713,536 (GRCm39)		probably null	Het
Dnah3	T	C	7: 119,671,128 (GRCm39)	N585S	probably benign	Het
Eef1akmt2	C	A	7: 132,453,218 (GRCm39)	W38L	probably damaging	Het
Fasn	A	T	11: 120,702,734 (GRCm39)	D1709E	probably benign	Het
Fbxl18	A	T	5: 142,872,068 (GRCm39)	I389N	probably damaging	Het
Fuca1	G	T	4: 135,660,237 (GRCm39)	G252C	probably damaging	Het
Fut9	T	A	4: 25,620,502 (GRCm39)	H104L	probably damaging	Het
Glra1	C	T	11: 55,427,331 (GRCm39)		probably null	Het
Gpsm1	T	C	2: 26,210,008 (GRCm39)	V45A	possibly damaging	Het
Hadha	A	G	5: 30,359,959 (GRCm39)		probably benign	Het
Hddc2	C	T	10: 31,203,949 (GRCm39)	T192I	probably benign	Het
Herc1	A	T	9: 66,377,608 (GRCm39)	K3458M	possibly damaging	Het
Igkv14-100	A	G	6: 68,496,383 (GRCm39)	D92G	probably damaging	Het
Il17rc	T	C	6: 113,449,327 (GRCm39)	V88A	possibly damaging	Het
Inpp5j	T	C	11: 3,450,664 (GRCm39)	D563G	probably damaging	Het
Lamc3	T	A	2: 31,798,681 (GRCm39)	N462K	probably benign	Het
Mrpl15	T	C	1: 4,854,368 (GRCm39)		probably benign	Het
Myh7b	G	C	2: 155,474,293 (GRCm39)	R1669S	possibly damaging	Het
Obi1	C	T	14: 104,745,466 (GRCm39)	G70E	probably damaging	Het
Or2n1c	T	C	17: 38,519,334 (GRCm39)	L66P	probably damaging	Het
Or5b122	G	T	19: 13,562,886 (GRCm39)	A30S	probably benign	Het
Psg20	T	C	7: 18,408,291 (GRCm39)	*473W	probably null	Het
Rimbp3	A	G	16: 17,027,671 (GRCm39)	E365G	probably damaging	Het
Snai2	A	G	16: 14,526,053 (GRCm39)	T235A	possibly damaging	Het
Tg	A	T	15: 66,579,779 (GRCm39)	Y1528F	probably damaging	Het
Tlr3	A	G	8: 45,856,075 (GRCm39)	V35A	probably benign	Het
Tnfsf15	T	C	4: 63,648,125 (GRCm39)	I172V	probably benign	Het
Tns1	G	A	1: 73,964,641 (GRCm39)	T1330I	probably damaging	Het
Zc3h6	T	A	2: 128,852,353 (GRCm39)	F330I	possibly damaging	Het
Zdbf2	A	G	1: 63,342,809 (GRCm39)	E396G	possibly damaging	Het

Other mutations in Fbrsl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01413:Fbrsl1	APN	5	110,526,114 (GRCm39)	missense	probably damaging	0.99
IGL01743:Fbrsl1	APN	5	110,529,506 (GRCm39)	missense	probably damaging	0.98
IGL01910:Fbrsl1	APN	5	110,511,602 (GRCm39)	missense	probably damaging	1.00
F5770:Fbrsl1	UTSW	5	110,527,292 (GRCm39)	missense	possibly damaging	0.90
FR4342:Fbrsl1	UTSW	5	110,525,991 (GRCm39)	small insertion	probably benign
FR4589:Fbrsl1	UTSW	5	110,526,016 (GRCm39)	small insertion	probably benign
R0084:Fbrsl1	UTSW	5	110,527,381 (GRCm39)	missense	probably damaging	0.99
R0126:Fbrsl1	UTSW	5	110,543,906 (GRCm39)	splice site	probably benign
R0336:Fbrsl1	UTSW	5	110,595,817 (GRCm39)	missense	probably damaging	0.96
R1196:Fbrsl1	UTSW	5	110,522,385 (GRCm39)	missense	probably benign	0.21
R1712:Fbrsl1	UTSW	5	110,595,862 (GRCm39)	missense	probably benign	0.01
R1998:Fbrsl1	UTSW	5	110,524,305 (GRCm39)	missense	probably benign	0.43
R2081:Fbrsl1	UTSW	5	110,519,491 (GRCm39)	critical splice acceptor site	probably null
R2108:Fbrsl1	UTSW	5	110,526,300 (GRCm39)	missense	probably damaging	0.97
R4420:Fbrsl1	UTSW	5	110,526,852 (GRCm39)	missense	possibly damaging	0.66
R4472:Fbrsl1	UTSW	5	110,526,932 (GRCm39)	start gained	probably benign
R4931:Fbrsl1	UTSW	5	110,526,895 (GRCm39)	missense	possibly damaging	0.89
R4994:Fbrsl1	UTSW	5	110,595,817 (GRCm39)	missense	probably damaging	0.96
R5084:Fbrsl1	UTSW	5	110,527,272 (GRCm39)	start gained	probably benign
R5326:Fbrsl1	UTSW	5	110,526,307 (GRCm39)	missense	probably damaging	1.00
R5542:Fbrsl1	UTSW	5	110,526,307 (GRCm39)	missense	probably damaging	1.00
R5590:Fbrsl1	UTSW	5	110,529,484 (GRCm39)	missense	probably damaging	0.96
R6168:Fbrsl1	UTSW	5	110,543,922 (GRCm39)	missense	probably damaging	0.97
R6234:Fbrsl1	UTSW	5	110,525,917 (GRCm39)	missense	probably damaging	0.97
R6325:Fbrsl1	UTSW	5	110,525,273 (GRCm39)	missense	probably damaging	1.00
R6661:Fbrsl1	UTSW	5	110,525,963 (GRCm39)	missense	probably damaging	1.00
R7269:Fbrsl1	UTSW	5	110,580,880 (GRCm39)	missense	probably benign	0.15
R7514:Fbrsl1	UTSW	5	110,580,799 (GRCm39)	missense	probably benign	0.06
R7586:Fbrsl1	UTSW	5	110,526,020 (GRCm39)	missense	probably damaging	0.99
R7791:Fbrsl1	UTSW	5	110,595,885 (GRCm39)	missense	probably benign	0.00
R8108:Fbrsl1	UTSW	5	110,526,245 (GRCm39)	splice site	probably null
R8182:Fbrsl1	UTSW	5	110,526,861 (GRCm39)	missense	possibly damaging	0.46
R8679:Fbrsl1	UTSW	5	110,526,086 (GRCm39)	missense	probably damaging	1.00
R9234:Fbrsl1	UTSW	5	110,511,250 (GRCm39)	missense	probably benign	0.00
R9753:Fbrsl1	UTSW	5	110,526,835 (GRCm39)	missense	unknown
RF008:Fbrsl1	UTSW	5	110,525,984 (GRCm39)	small insertion	probably benign
RF029:Fbrsl1	UTSW	5	110,526,005 (GRCm39)	small insertion	probably benign
RF031:Fbrsl1	UTSW	5	110,526,017 (GRCm39)	small insertion	probably benign
RF033:Fbrsl1	UTSW	5	110,525,991 (GRCm39)	small insertion	probably benign
RF034:Fbrsl1	UTSW	5	110,526,015 (GRCm39)	small insertion	probably benign
RF037:Fbrsl1	UTSW	5	110,526,017 (GRCm39)	nonsense	probably null
RF061:Fbrsl1	UTSW	5	110,525,997 (GRCm39)	small insertion	probably benign
RF063:Fbrsl1	UTSW	5	110,526,009 (GRCm39)	small insertion	probably benign
RF063:Fbrsl1	UTSW	5	110,526,005 (GRCm39)	small insertion	probably benign
RF064:Fbrsl1	UTSW	5	110,525,997 (GRCm39)	small insertion	probably benign
V7582:Fbrsl1	UTSW	5	110,527,292 (GRCm39)	missense	possibly damaging	0.90
X0018:Fbrsl1	UTSW	5	110,527,292 (GRCm39)	missense	possibly damaging	0.90
X0019:Fbrsl1	UTSW	5	110,527,292 (GRCm39)	missense	possibly damaging	0.90
X0020:Fbrsl1	UTSW	5	110,527,292 (GRCm39)	missense	possibly damaging	0.90
X0021:Fbrsl1	UTSW	5	110,527,292 (GRCm39)	missense	possibly damaging	0.90
X0022:Fbrsl1	UTSW	5	110,527,292 (GRCm39)	missense	possibly damaging	0.90
X0022:Fbrsl1	UTSW	5	110,519,415 (GRCm39)	missense	probably damaging	1.00
X0023:Fbrsl1	UTSW	5	110,527,292 (GRCm39)	missense	possibly damaging	0.90
X0024:Fbrsl1	UTSW	5	110,527,292 (GRCm39)	missense	possibly damaging	0.90
X0027:Fbrsl1	UTSW	5	110,527,292 (GRCm39)	missense	possibly damaging	0.90
X0050:Fbrsl1	UTSW	5	110,527,292 (GRCm39)	missense	possibly damaging	0.90
X0052:Fbrsl1	UTSW	5	110,527,292 (GRCm39)	missense	possibly damaging	0.90
X0053:Fbrsl1	UTSW	5	110,527,292 (GRCm39)	missense	possibly damaging	0.90
X0054:Fbrsl1	UTSW	5	110,527,292 (GRCm39)	missense	possibly damaging	0.90
X0057:Fbrsl1	UTSW	5	110,527,292 (GRCm39)	missense	possibly damaging	0.90
X0058:Fbrsl1	UTSW	5	110,527,292 (GRCm39)	missense	possibly damaging	0.90
X0060:Fbrsl1	UTSW	5	110,527,292 (GRCm39)	missense	possibly damaging	0.90
X0061:Fbrsl1	UTSW	5	110,527,292 (GRCm39)	missense	possibly damaging	0.90
X0062:Fbrsl1	UTSW	5	110,527,292 (GRCm39)	missense	possibly damaging	0.90
X0063:Fbrsl1	UTSW	5	110,527,292 (GRCm39)	missense	possibly damaging	0.90
X0064:Fbrsl1	UTSW	5	110,527,292 (GRCm39)	missense	possibly damaging	0.90
X0065:Fbrsl1	UTSW	5	110,527,292 (GRCm39)	missense	possibly damaging	0.90
X0066:Fbrsl1	UTSW	5	110,527,292 (GRCm39)	missense	possibly damaging	0.90
X0067:Fbrsl1	UTSW	5	110,527,292 (GRCm39)	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- CCTACTGGTGAGGTCCTACTTTG -3'
(R):5'- GAAATGTCCTCCTGCCCTAC -3'

Sequencing Primer
(F):5'- CCTACTTTGCTTTGGAGAAGGAAGAC -3'
(R):5'- GCCCTACTTGCCACTTCCAG -3'

Posted On

2016-06-06