Mutagenetix > Incidental Mutation

Incidental Mutation 'RF031:Fbrsl1'

604363

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: 0.065) question?

Stock #

RF031 (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)

G to GCGTGTGCTGGTC at 110526017 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: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Predicted Effect	Zygosity
AI837181	GCG	GCGCCG	19: 5,475,246 (GRCm39)	probably benign	Het
Blm	CTCCTCCTCCTCCTCCTCCTCCTC	CTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTCCTC	7: 80,162,654 (GRCm39)	probably benign	Het
Blm	CCTCCTCCTCC	CCTCCTCCTCCTGCTCCTCCTCC	7: 80,162,671 (GRCm39)	probably benign	Het
Cyb5r4	GGGA	GGGATGTGACAGACACACTGCCCATGGA	9: 86,922,498 (GRCm39)	probably benign	Het
Dcdc2b	GCTGC	GCTGCCAGGACTGC	4: 129,503,444 (GRCm39)	probably benign	Het
Dclre1a	CTTTGCT	C	19: 56,532,564 (GRCm39)	probably benign	Het
Dctn6	AAATCATGGCTTGCGATCT	A	8: 34,572,236 (GRCm39)	probably null	Het
Elovl5	G	T	9: 77,888,755 (GRCm39)	probably null	Het
Ermn	AACT	AACTACT	2: 57,938,078 (GRCm39)	probably benign	Het
Fgd6	ATT	A	10: 93,880,187 (GRCm39)	probably null	Het
Flywch1	TCACTCACCCACTCCTGGTGT	TCACTCACCCACTCCTGGTGTGGGGAGGCTACGCACTCACCCACTCCTGGTGT	17: 23,981,132 (GRCm39)	probably null	Het
Gab3	TCT	TCTGCT	X: 74,043,602 (GRCm39)	probably benign	Het
Gab3	TTC	TTCATC	X: 74,043,607 (GRCm39)	probably benign	Het
Gab3	CTT	CTTATT	X: 74,043,603 (GRCm39)	probably null	Het
Gm11060	CTGTGTG	CTG	2: 104,922,385 (GRCm39)	probably null	Het
Gm5475	GGTGGAAGGAAAG	GG	15: 100,325,029 (GRCm39)	probably null	Het
Heatr3	TAT	TATTAAT	8: 88,883,085 (GRCm39)	probably benign	Het
Iqcf4	TTTCCTTTT	TTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTCTTCCTTTT	9: 106,447,814 (GRCm39)	probably benign	Het
Ivl	GCTGCTGCTGCTGC	G	3: 92,479,625 (GRCm39)	probably null	Het
Kif12	GGC	GGCCTCCACCCGGCGTGC	4: 63,089,662 (GRCm39)	probably benign	Het
L1td1	AGGAGGAGGAGGAGGAGGAGGAGGGGGAGGAGGAG	AGGAGGAGGAG	4: 98,625,026 (GRCm39)	probably benign	Het
Lca5l	CCCTGGCCCCGGCC	CCC	16: 95,960,504 (GRCm39)	probably null	Het
Loricrin	ATAGCCG	A	3: 91,989,183 (GRCm39)	probably benign	Het
Mapk7	GGGGCA	GGGGCACGGGCA	11: 61,381,060 (GRCm39)	probably benign	Het
Nf2	AAAAG	A	11: 4,779,936 (GRCm39)	probably null	Het
Nlrp3	GGGTA	G	11: 59,449,378 (GRCm39)	probably null	Het
Nolc1	CAGCAGC	CAGCAGCAGGAGCAGC	19: 46,069,810 (GRCm39)	probably benign	Het
Pdik1l	TTTT	TTTTGTTTTTGATTT	4: 134,006,685 (GRCm39)	probably null	Het
Phldb3	CGCCCCCG	C	7: 24,325,918 (GRCm39)	probably null	Het
Setd1a	GGTGGTAGT	GGTGGTAGTAGTGGTAGT	7: 127,384,483 (GRCm39)	probably benign	Het
Spmap2l	CCCCAGTCCCGCAAGGCCAG	CCCCAGTCCCGCAAGGCCAGCGATCCTACCCAGTCCCGCAAGGCCAG	5: 77,164,257 (GRCm39)	probably benign	Het
Strn	CTTACCCCAGTC	CTTACCCCAGTCCGTGCTCCCTTACCCCAGTCCGTGATCCATTACCCCAGTC	17: 78,984,706 (GRCm39)	probably null	Het
Tcof1	TTCCCAGAGATCCCCTTGGC	TTCCCAGAGATCCCCTTGGCTGCTGAGATGGGCACTATCCCAGAGATCCCCTTGGC	18: 60,966,637 (GRCm39)	probably benign	Het
Tcof1	AGC	AGCGGC	18: 60,968,817 (GRCm39)	probably benign	Het
Tedc2	AGGAACCCT	AGGAACCCTGGAACCCT	17: 24,435,213 (GRCm39)	probably benign	Het
Tmem59	T	TGTTTGTTG	4: 107,047,729 (GRCm39)	probably benign	Het
Zfhx3	C	CCGCAGCAAA	8: 109,682,730 (GRCm39)	probably benign	Het
Zfp335	TCGTCGTC	TCGTCGTCGTC	2: 164,749,383 (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
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'- CATCTGTGTGTACGACTCCCTG -3'
(R):5'- TACTTGGTCACAGGCTCCTC -3'

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

Posted On

2019-12-04