Mutagenetix > Incidental Mutation

Incidental Mutation 'RF034:Fbrsl1'

604487

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 #

RF034 (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)

GTG to GTGCGTGTGCTGTTG at 110526015 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: 99.4%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A030005L19Rik	TGTGGCTGC	TGTGGCTGCGGTGGCTGC	1: 82,891,301 (GRCm39)		probably benign	Het
Acap3	GCATCCTGGGCTGCT	GCATCCTGGGCTGCTACATCCTGGGCTGCT	4: 155,989,549 (GRCm39)		probably benign	Het
Alpk3	GAGAAGGCAC	G	7: 80,742,162 (GRCm39)		probably benign	Het
Bltp1	T	TTATTATGATTATTAC	3: 37,104,909 (GRCm39)		probably benign	Het
Cox7a2l	GGA	GGATGGGGA	17: 83,810,151 (GRCm39)		probably benign	Het
Cpne1	TCCAC	TC	2: 155,915,430 (GRCm39)		probably benign	Het
Cyb5r4	CCCAGGGATGTGACAGACACACTG	CCCAGGGATGTGACAGACACACTGACCAGGGATGTGACAGACACACTG	9: 86,922,470 (GRCm39)		probably benign	Het
Cyb5r4	GA	GATGTGACAGACACACTGCCCAGGTA	9: 86,922,500 (GRCm39)		probably null	Het
Defb22	TGCGGCA	TGCGGCAGGGCTGGCCTTTGCGGCA	2: 152,327,752 (GRCm39)		probably benign	Het
Dnmt1	GGGCGGAGCACAGTTCCTACCTCGTT	GGGCGGAGCACAGTTCCTACCTCGTTTTGGTGGCGGAGCACAGTTCCTACCTCGTT	9: 20,821,416 (GRCm39)		probably null	Het
Frem3	GATC	GATCATC	8: 81,341,867 (GRCm39)		probably benign	Het
Gabre	GCTC	GCTCTGTCTC	X: 71,314,368 (GRCm39)		probably benign	Het
Garin5a	GGGTCTGAGGGAGGA	GGGTCTGAGGGAGGAAGGCTGGATCCTGGATACCTAGGTCTGAGGGAGGA	7: 44,149,947 (GRCm39)		probably null	Het
Gm15155	CAA	CAACAACAAA	X: 155,128,636 (GRCm39)		probably null	Het
Igf1r	GGAGATGGAGC	GGAGATGGAGCTAGAGATGGAGC	7: 67,875,924 (GRCm39)		probably benign	Het
Krtap28-10	CACCACAGC	CACCACAGCCACAGCGACCACAGC	1: 83,020,003 (GRCm39)		probably benign	Het
Mamld1	AGC	AGCGGC	X: 70,162,441 (GRCm39)		probably benign	Het
Map1a	CCAGCTCCAGCTCCA	CCAGCTCCAGCTCCAGCTACAGCTCCAGATACAGCTCCAGCTCCA	2: 121,136,785 (GRCm39)		probably benign	Het
Map1a	GCTCCAGCTCCA	GCTCCAGCTCCAGCTCCAGCTCCAGCTCCATCTCCAGCTCCA	2: 121,136,788 (GRCm39)		probably benign	Het
Neu1	TCTTCTA	T	17: 35,151,534 (GRCm39)		probably benign	Het
Nolc1	CAGCAGC	CAGCAGCAGAAGCAGC	19: 46,069,810 (GRCm39)		probably benign	Het
Or7g32	G	T	9: 19,388,928 (GRCm39)	A206E	possibly damaging	Het
Pdik1l	TTTT	TTTTGTTTTTGGTTT	4: 134,006,685 (GRCm39)		probably null	Het
Rassf6	CACTCATGGTCCTGTAGAGCAATGGGGATTC	CACTCATGGTCCTGTAGAGCAATGGGGATTCTGCCTGACTCATGGTCCTGTAGAGCAATGGGGATTC	5: 90,756,771 (GRCm39)		probably benign	Het
Rassf6	CTGTAGAGCAATGGGGATTC	CTGTAGAGCAATGGGGATTCTGCCTCACTCATGGTCATGTAGAGCAATGGGGATTC	5: 90,756,782 (GRCm39)		probably benign	Het
Rassf6	ATGGTCCTGTAGAGCAATGGGGATTC	ATGGTCCTGTAGAGCAATGGGGATTCTGCCTCACTCGTGGTCCTGTAGAGCAATGGGGATTC	5: 90,756,776 (GRCm39)		probably benign	Het
Rpgrip1	AGAGGAGGA	AGA	14: 52,386,983 (GRCm39)		probably benign	Het
Rprd2	AGAGCCTGTGGTGCTCGCAGGGGAGGCTGTGGTGCTC	AGAGGCTGTGGTGCTC	3: 95,673,632 (GRCm39)		probably benign	Het
Rsf1	CG	CGAGG	7: 97,229,115 (GRCm39)		probably benign	Het
Rtbdn	GCGGC	GCGGCATCGGC	8: 85,682,804 (GRCm39)		probably benign	Het
Smarca2	CA	CACCAAGA	19: 26,608,411 (GRCm39)		probably benign	Het
Tfeb	GCA	GCACCA	17: 48,097,022 (GRCm39)		probably benign	Het
Tfeb	CAG	CAGTAG	17: 48,097,023 (GRCm39)		probably null	Het
Tmed6	AGC	AGCTGGC	8: 107,788,228 (GRCm39)		probably null	Het
Tomm5	TCTTCCGC	TCTTCCGCAGCTTCCGC	4: 45,107,976 (GRCm39)		probably benign	Het
Trappc9	TG	TGATGCTGCTGCTGCGG	15: 72,673,147 (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
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
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'- TCTGTGTGTACGACTCCCTG -3'
(R):5'- TACTTGGTCACAGGCTCCTC -3'

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

Posted On

2019-12-04