Mutagenetix > Incidental Mutations

Incidental Mutation 'RF063:Fbrsl1'

605458

Institutional Source

Beutler Lab

Gene Symbol

Fbrsl1

Ensembl Gene

ENSMUSG00000043323

Gene Name

fibrosin-like 1

Synonyms

2410025L10Rik, LOC381668

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

RF063 (G1)

Quality Score

214.465

Status

Not validated

Chromosome

Chromosomal Location

110361754-110448503 bp(-) (GRCm38)

Type of Mutation

small insertion (4 aa in frame mutation)

DNA Base Change (assembly)

GCGTGTGCTGGT to GCGTGTGCTGGTACGTGTGCTGGT at 110378139 bp (GRCm38)

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: 99.3%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430401F13Rik	CAGAAAGGAAAAGGTGGCCAG	CAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	6: 131,552,883		probably benign	Het
5430401F13Rik	AGAAAGGAAAAGGTGGCCAG	AGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	6: 131,552,884		probably benign	Het
Abca2	G	T	2: 25,447,397	E2421D	probably damaging	Het
Apc	A	AATAAAGCCC	18: 34,282,009		probably benign	Het
Calhm1	TGGCTGTGGCTG	TGGCTGTGGCTGCGGCTGTGGCTG	19: 47,141,256		probably benign	Het
Casz1	CACA	C	4: 148,952,304		probably benign	Het
Dock4	GTGCCGGTGCCCGT	G	12: 40,844,399		probably null	Het
F11r	CCCCCCCCC	CCCCCCCCCCC	1: 171,461,190		probably benign	Het
Fam171b	C	CAGCAGA	2: 83,812,896		probably benign	Het
Iqcf4	TCCTTTT	TCCTTTTCCTTTTCCTTGTCCTTTTCCTTTTCCTTTGCCTTTT	9: 106,570,617		probably benign	Het
Iqgap1	AGGCCACCACTGCTCACAGGTGCTGTACCT	A	7: 80,723,751		probably null	Het
Kmt2c	GCT	GCTCCT	5: 25,315,764		probably benign	Het
Lrtm1	TAGCCTCAGTGGCC	T	14: 29,021,443		probably null	Het
Med12l	AACA	AACAACA	3: 59,275,958		probably benign	Het
Med12l	AGC	AGCCGC	3: 59,275,973		probably benign	Het
Rassf6	C	CTGCCTCACTCATGGTCCTGTAGAGCAATGGGGATTA	5: 90,608,942		probably null	Het
Sh3pxd2b	TGTGCC	TGTGCCCGTGCC	11: 32,423,051		probably benign	Het
Sorcs2	ATACATACATACCT	AT	5: 36,153,811		probably null	Het
Sry	TGCTGCTGCTGCTGCTG	T	Y: 2,662,595		probably null	Het
Stard8	GAG	GAGTAG	X: 99,066,524		probably null	Het
Tcof1	GATCCCCTTGGC	GATCCCCTTGGCTGCTGAGATGGGCACTTTCCCAGATATCCCCTTGGC	18: 60,833,573		probably benign	Het
Thegl	CCAG	CCAGCGATCCTCCCCAGTCCCGCAAGGTCAG	5: 77,016,426		probably benign	Het
Trappc9	GCTGCTGCTGCT	GCTGCTGCTGCTGCTTCTGCTGCTGCT	15: 72,801,320		probably benign	Het
Trappc9	CTGCTGCT	CTGCTGCTGCTGCTGTTGCTGCT	15: 72,801,324		probably benign	Het
Vmn1r74	CAGAGCCACCAAGTACCT	C	7: 11,847,140		probably null	Het

Other mutations in Fbrsl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01413:Fbrsl1	APN	5	110378248	missense	probably damaging	0.99
IGL01743:Fbrsl1	APN	5	110381640	missense	probably damaging	0.98
IGL01910:Fbrsl1	APN	5	110363736	missense	probably damaging	1.00
F5770:Fbrsl1	UTSW	5	110379426	missense	possibly damaging	0.90
FR4342:Fbrsl1	UTSW	5	110378125	small insertion	probably benign
FR4589:Fbrsl1	UTSW	5	110378150	small insertion	probably benign
R0084:Fbrsl1	UTSW	5	110379515	missense	probably damaging	0.99
R0126:Fbrsl1	UTSW	5	110396040	splice site	probably benign
R0336:Fbrsl1	UTSW	5	110447951	missense	probably damaging	0.96
R1196:Fbrsl1	UTSW	5	110374519	missense	probably benign	0.21
R1712:Fbrsl1	UTSW	5	110447996	missense	probably benign	0.01
R1998:Fbrsl1	UTSW	5	110376439	missense	probably benign	0.43
R2081:Fbrsl1	UTSW	5	110371625	critical splice acceptor site	probably null
R2108:Fbrsl1	UTSW	5	110378434	missense	probably damaging	0.97
R4420:Fbrsl1	UTSW	5	110378986	missense	possibly damaging	0.66
R4472:Fbrsl1	UTSW	5	110379066	start gained	probably benign
R4931:Fbrsl1	UTSW	5	110379029	missense	possibly damaging	0.89
R4994:Fbrsl1	UTSW	5	110447951	missense	probably damaging	0.96
R5025:Fbrsl1	UTSW	5	110417901	missense	probably damaging	0.99
R5084:Fbrsl1	UTSW	5	110379406	start gained	probably benign
R5326:Fbrsl1	UTSW	5	110378441	missense	probably damaging	1.00
R5542:Fbrsl1	UTSW	5	110378441	missense	probably damaging	1.00
R5590:Fbrsl1	UTSW	5	110381618	missense	probably damaging	0.96
R6168:Fbrsl1	UTSW	5	110396056	missense	probably damaging	0.97
R6234:Fbrsl1	UTSW	5	110378051	missense	probably damaging	0.97
R6325:Fbrsl1	UTSW	5	110377407	missense	probably damaging	1.00
R6661:Fbrsl1	UTSW	5	110378097	missense	probably damaging	1.00
R7269:Fbrsl1	UTSW	5	110433014	missense	probably benign	0.15
R7514:Fbrsl1	UTSW	5	110432933	missense	probably benign	0.06
R7586:Fbrsl1	UTSW	5	110378154	missense	probably damaging	0.99
R7791:Fbrsl1	UTSW	5	110448019	missense	probably benign	0.00
R8108:Fbrsl1	UTSW	5	110378379	splice site	probably null
R8182:Fbrsl1	UTSW	5	110378995	missense	possibly damaging	0.46
R8679:Fbrsl1	UTSW	5	110378220	missense	probably damaging	1.00
R9234:Fbrsl1	UTSW	5	110363384	missense	probably benign	0.00
RF008:Fbrsl1	UTSW	5	110378118	small insertion	probably benign
RF029:Fbrsl1	UTSW	5	110378139	small insertion	probably benign
RF031:Fbrsl1	UTSW	5	110378151	small insertion	probably benign
RF033:Fbrsl1	UTSW	5	110378125	small insertion	probably benign
RF034:Fbrsl1	UTSW	5	110378149	small insertion	probably benign
RF037:Fbrsl1	UTSW	5	110378151	nonsense	probably null
RF061:Fbrsl1	UTSW	5	110378131	small insertion	probably benign
RF063:Fbrsl1	UTSW	5	110378143	small insertion	probably benign
RF064:Fbrsl1	UTSW	5	110378131	small insertion	probably benign
V7582:Fbrsl1	UTSW	5	110379426	missense	possibly damaging	0.90
X0018:Fbrsl1	UTSW	5	110379426	missense	possibly damaging	0.90
X0019:Fbrsl1	UTSW	5	110379426	missense	possibly damaging	0.90
X0020:Fbrsl1	UTSW	5	110379426	missense	possibly damaging	0.90
X0021:Fbrsl1	UTSW	5	110379426	missense	possibly damaging	0.90
X0022:Fbrsl1	UTSW	5	110371549	missense	probably damaging	1.00
X0022:Fbrsl1	UTSW	5	110379426	missense	possibly damaging	0.90
X0023:Fbrsl1	UTSW	5	110379426	missense	possibly damaging	0.90
X0024:Fbrsl1	UTSW	5	110379426	missense	possibly damaging	0.90
X0027:Fbrsl1	UTSW	5	110379426	missense	possibly damaging	0.90
X0050:Fbrsl1	UTSW	5	110379426	missense	possibly damaging	0.90
X0052:Fbrsl1	UTSW	5	110379426	missense	possibly damaging	0.90
X0053:Fbrsl1	UTSW	5	110379426	missense	possibly damaging	0.90
X0054:Fbrsl1	UTSW	5	110379426	missense	possibly damaging	0.90
X0057:Fbrsl1	UTSW	5	110379426	missense	possibly damaging	0.90
X0058:Fbrsl1	UTSW	5	110379426	missense	possibly damaging	0.90
X0060:Fbrsl1	UTSW	5	110379426	missense	possibly damaging	0.90
X0061:Fbrsl1	UTSW	5	110379426	missense	possibly damaging	0.90
X0062:Fbrsl1	UTSW	5	110379426	missense	possibly damaging	0.90
X0063:Fbrsl1	UTSW	5	110379426	missense	possibly damaging	0.90
X0064:Fbrsl1	UTSW	5	110379426	missense	possibly damaging	0.90
X0065:Fbrsl1	UTSW	5	110379426	missense	possibly damaging	0.90
X0066:Fbrsl1	UTSW	5	110379426	missense	possibly damaging	0.90
X0067:Fbrsl1	UTSW	5	110379426	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- GCATCTGTGTGTACGACTCC -3'
(R):5'- TACTTGGTCACAGGCTCCTC -3'

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

Posted On

2019-12-04