Mutagenetix > Incidental Mutation

Incidental Mutation 'RF029:Fbrsl1'

604268

Institutional Source

Beutler Lab

Gene Symbol

Fbrsl1

Ensembl Gene

ENSMUSG00000043323

Gene Name

fibrosin-like 1

Synonyms

LOC381668, 2410025L10Rik, Gm29766

Accession Numbers

Essential gene?

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

Stock #

RF029 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

110509617-110596369 bp(-) (GRCm39)

Type of Mutation

small insertion (4 aa in frame mutation)

DNA Base Change (assembly)

GCGTGTGCTGGT to GCGTGTGCTGGTTCGTGTGCTGGT at 110526005 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143147 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056124] [ENSMUST00000069483] [ENSMUST00000196801] [ENSMUST00000198768] [ENSMUST00000198834]

AlphaFold

E9Q9T0

Predicted Effect

probably benign
Transcript: ENSMUST00000056124

SMART Domains

Protein: ENSMUSP00000054613
Gene: ENSMUSG00000043323

Domain	Start	End	E-Value	Type
low complexity region	3	16	N/A	INTRINSIC
low complexity region	62	79	N/A	INTRINSIC
low complexity region	82	100	N/A	INTRINSIC
Pfam:Auts2	125	329	3.1e-96	PFAM
low complexity region	464	480	N/A	INTRINSIC
low complexity region	498	513	N/A	INTRINSIC
low complexity region	528	542	N/A	INTRINSIC
low complexity region	543	559	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000069483

SMART Domains

Protein: ENSMUSP00000063879
Gene: ENSMUSG00000043323

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

probably benign
Transcript: ENSMUST00000196801

SMART Domains

Protein: ENSMUSP00000142625
Gene: ENSMUSG00000043323

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

probably benign
Transcript: ENSMUST00000198768

SMART Domains

Protein: ENSMUSP00000142379
Gene: ENSMUSG00000043323

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

Predicted Effect

probably benign
Transcript: ENSMUST00000198834

SMART Domains

Protein: ENSMUSP00000143147
Gene: ENSMUSG00000043323

Domain	Start	End	E-Value	Type
low complexity region	3	16	N/A	INTRINSIC
low complexity region	62	79	N/A	INTRINSIC
low complexity region	82	100	N/A	INTRINSIC
Pfam:Auts2	150	353	4.1e-107	PFAM
low complexity region	488	504	N/A	INTRINSIC
low complexity region	522	537	N/A	INTRINSIC
low complexity region	552	566	N/A	INTRINSIC
low complexity region	567	583	N/A	INTRINSIC

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.2%
20x: 98.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430401F13Rik	GGTGGCCAG	GGTGGCCAGCAAAAACAGAAAGGAAAAAGTGGCCAG	6: 131,529,858 (GRCm39)		probably benign	Het
Abca17	T	TCCCTC	17: 24,506,701 (GRCm39)		probably benign	Het
Amot	GGAGCAGCAA	G	X: 144,233,984 (GRCm39)		probably benign	Het
C1s1	CCCATGGCTC	CC	6: 124,518,310 (GRCm39)		probably null	Het
Cacna1a	CCA	CCAACA	8: 85,365,353 (GRCm39)		probably benign	Het
Ccdc170	ACC	ACCGCC	10: 4,511,026 (GRCm39)		probably benign	Het
Cyb5r4	CAGA	CAGAGACACTGACCAGGGATGTGATAGA	9: 86,922,483 (GRCm39)		probably benign	Het
Cyb5r4	CCAGGGA	CCAGGGATGTGACAGACACACTGCACAGGGA	9: 86,922,495 (GRCm39)		probably benign	Het
Defb22	GCGGCA	GCGGCAGAGCTGGCCTTTGCGGCA	2: 152,327,753 (GRCm39)		probably benign	Het
Dnmt1	CGGAGCACAGTTCCTACCTCGTT	CGGAGCACAGTTCCTACCTCGTTTTGGGGGAGGAGCACAGTTCCTACCTCGTT	9: 20,821,419 (GRCm39)		probably null	Het
Eed	C	A	7: 89,604,240 (GRCm39)	A411S	probably benign	Het
Exd2	CCACAGC	CC	12: 80,522,720 (GRCm39)		probably null	Het
Fam171b	GCAGC	GCAGCATCAGC	2: 83,643,236 (GRCm39)		probably benign	Het
Fsip2	TAGATGTGAAACCCTTAGAGGTAAGATGTGAAACTCTTAGAGGTAAGA	TAGATGTGAAACTCTTAGAGGTAAGA	2: 82,824,352 (GRCm39)		probably null	Het
Gabre	GGCTC	GGCTCCTGCTC	X: 71,313,665 (GRCm39)		probably benign	Het
Gm47955	G	GTTGTGGCTT	1: 82,938,248 (GRCm39)		probably benign	Het
Gm572	TGGGGGGGGGGGG	TGGGGG	4: 148,755,850 (GRCm39)		probably null	Het
Hic1	CGGGGGGGGGG	CGGGGGGG	11: 75,060,268 (GRCm39)		probably benign	Het
Ifi208	AGATG	AG	1: 173,505,262 (GRCm39)		probably benign	Het
Il2	GTGG	GTGGGGCTTGAACTGG	3: 37,179,976 (GRCm39)		probably benign	Het
Irag2	TG	TGAGCACATGG	6: 145,119,516 (GRCm39)		probably benign	Het
Krtap28-10	CACAGCCACAGCCAC	CACAGCCACAGCCACAACAGCCACAGCCAC	1: 83,019,991 (GRCm39)		probably benign	Het
Lkaaear1	GCTCCAGCTCCAGCTCCAGCTCCA	GCTCCAGCTCCACCTCCAGCTCCAGCTCCAGCTCCA	2: 181,339,372 (GRCm39)		probably benign	Het
Lkaaear1	CCAGCTCCAGCT	CCAGCTCCAGCTACAGCTCCAGCT	2: 181,339,381 (GRCm39)		probably benign	Het
Nusap1	TGAGGAGCAAGCTGAGA	TGAGGAGCAAGCTGAGATACACGTTAGCTGGGAGGAGCAAGCTGAGA	2: 119,458,075 (GRCm39)		probably benign	Het
Nusap1	CTGAGA	CTGAGATACACGTTAGCAGTGAGGAGCAAGATGAGA	2: 119,458,086 (GRCm39)		probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Pnma8a	CAACATC	CAACATCTCATGATGCACCTGCTTAAACATC	7: 16,695,369 (GRCm39)		probably null	Het
Polr1has	CG	CCACCACCACCACCCCCCCCAGG	17: 37,275,963 (GRCm39)		probably benign	Het
Rasa2	CGC	CGCAGC	9: 96,513,520 (GRCm39)		probably benign	Het
Rbm12	TATTGCGGGACCAGGTATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCAGGCATTGCGGGACC	TATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCAGGCATTGCGGGACC	2: 155,938,015 (GRCm39)		probably benign	Het
Reep1	CGCCA	CGCCAGCCA	6: 71,684,950 (GRCm39)		probably null	Het
Tcof1	CAG	CAGAAG	18: 60,968,807 (GRCm39)		probably benign	Het
Tcof1	AGC	AGCGGC	18: 60,968,817 (GRCm39)		probably benign	Het
Trappc9	GCTGCTGCT	GCTGCTGCTGCTGCTTCTGCTGCT	15: 72,673,172 (GRCm39)		probably benign	Het
Zfhx3	CAGCAACAG	CAGCAACAGAAGCAACAG	8: 109,682,724 (GRCm39)		probably benign	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
R5025:Fbrsl1	UTSW	5	110,565,767 (GRCm39)	missense	probably damaging	0.99
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
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'- TGTGTGTACGACTCCCTGTC -3'
(R):5'- CTGATTGGTACTTGGTCACAGGC -3'

Sequencing Primer
(F):5'- GTACGACTCCCTGTCCCACC -3'
(R):5'- AGTGCCAGGTGACTATCCG -3'

Posted On

2019-12-04