Mutagenetix > Incidental Mutation

Incidental Mutation 'RF029:Fbrsl1'

604268

Institutional Source

Beutler Lab

Gene Symbol

Fbrsl1

Ensembl Gene

ENSMUSG00000043323

Gene Name

fibrosin-like 1

Synonyms

2410025L10Rik, LOC381668

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

RF029 (G1)

Quality Score

217.468

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 GCGTGTGCTGGTTCGTGTGCTGGT 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: 99.2%
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: 131,552,895 (GRCm38)		probably benign	Het
Abca17	T	TCCCTC	17: 24,287,727 (GRCm38)		probably benign	Het
Amot	GGAGCAGCAA	G	X: 145,450,988 (GRCm38)		probably benign	Het
C1s1	CCCATGGCTC	CC	6: 124,541,351 (GRCm38)		probably null	Het
Cacna1a	CCA	CCAACA	8: 84,638,724 (GRCm38)		probably benign	Het
Ccdc170	ACC	ACCGCC	10: 4,561,026 (GRCm38)		probably benign	Het
Cyb5r4	CAGA	CAGAGACACTGACCAGGGATGTGATAGA	9: 87,040,430 (GRCm38)		probably benign	Het
Cyb5r4	CCAGGGA	CCAGGGATGTGACAGACACACTGCACAGGGA	9: 87,040,442 (GRCm38)		probably benign	Het
Defb22	GCGGCA	GCGGCAGAGCTGGCCTTTGCGGCA	2: 152,485,833 (GRCm38)		probably benign	Het
Dnmt1	CGGAGCACAGTTCCTACCTCGTT	CGGAGCACAGTTCCTACCTCGTTTTGGGGGAGGAGCACAGTTCCTACCTCGTT	9: 20,910,123 (GRCm38)		probably null	Het
Eed	C	A	7: 89,955,032 (GRCm38)	A411S	probably benign	Het
Exd2	CCACAGC	CC	12: 80,475,946 (GRCm38)		probably null	Het
Fam171b	GCAGC	GCAGCATCAGC	2: 83,812,892 (GRCm38)		probably benign	Het
Fsip2	TAGATGTGAAACCCTTAGAGGTAAGATGTGAAACTCTTAGAGGTAAGA	TAGATGTGAAACTCTTAGAGGTAAGA	2: 82,994,008 (GRCm38)		probably null	Het
Gabre	GGCTC	GGCTCCTGCTC	X: 72,270,059 (GRCm38)		probably benign	Het
Gm47955	G	GTTGTGGCTT	1: 82,960,527 (GRCm38)		probably benign	Het
Gm572	TGGGGGGGGGGGG	TGGGGG	4: 148,671,393 (GRCm38)		probably null	Het
Hic1	CGGGGGGGGGG	CGGGGGGG	11: 75,169,442 (GRCm38)		probably benign	Het
Ifi208	AGATG	AG	1: 173,677,696 (GRCm38)		probably benign	Het
Il2	GTGG	GTGGGGCTTGAACTGG	3: 37,125,827 (GRCm38)		probably benign	Het
Krtap28-10	CACAGCCACAGCCAC	CACAGCCACAGCCACAACAGCCACAGCCAC	1: 83,042,270 (GRCm38)		probably benign	Het
Lkaaear1	GCTCCAGCTCCAGCTCCAGCTCCA	GCTCCAGCTCCACCTCCAGCTCCAGCTCCAGCTCCA	2: 181,697,579 (GRCm38)		probably benign	Het
Lkaaear1	CCAGCTCCAGCT	CCAGCTCCAGCTACAGCTCCAGCT	2: 181,697,588 (GRCm38)		probably benign	Het
Lrmp	TG	TGAGCACATGG	6: 145,173,790 (GRCm38)		probably benign	Het
Nusap1	TGAGGAGCAAGCTGAGA	TGAGGAGCAAGCTGAGATACACGTTAGCTGGGAGGAGCAAGCTGAGA	2: 119,627,594 (GRCm38)		probably benign	Het
Nusap1	CTGAGA	CTGAGATACACGTTAGCAGTGAGGAGCAAGATGAGA	2: 119,627,605 (GRCm38)		probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195 (GRCm38)		probably benign	Het
Pnmal1	CAACATC	CAACATCTCATGATGCACCTGCTTAAACATC	7: 16,961,444 (GRCm38)		probably null	Het
Rasa2	CGC	CGCAGC	9: 96,631,467 (GRCm38)		probably benign	Het
Rbm12	TATTGCGGGACCAGGTATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCAGGCATTGCGGGACC	TATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCAGGCATTGCGGGACC	2: 156,096,095 (GRCm38)		probably benign	Het
Reep1	CGCCA	CGCCAGCCA	6: 71,707,966 (GRCm38)		probably null	Het
Tcof1	CAG	CAGAAG	18: 60,835,735 (GRCm38)		probably benign	Het
Tcof1	AGC	AGCGGC	18: 60,835,745 (GRCm38)		probably benign	Het
Trappc9	GCTGCTGCT	GCTGCTGCTGCTGCTTCTGCTGCT	15: 72,801,323 (GRCm38)		probably benign	Het
Zfhx3	CAGCAACAG	CAGCAACAGAAGCAACAG	8: 108,956,092 (GRCm38)		probably benign	Het
Znrd1as	CG	CCACCACCACCACCCCCCCCAGG	17: 36,965,071 (GRCm38)		probably benign	Het

Other mutations in Fbrsl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01413:Fbrsl1	APN	5	110,378,248 (GRCm38)	missense	probably damaging	0.99
IGL01743:Fbrsl1	APN	5	110,381,640 (GRCm38)	missense	probably damaging	0.98
IGL01910:Fbrsl1	APN	5	110,363,736 (GRCm38)	missense	probably damaging	1.00
F5770:Fbrsl1	UTSW	5	110,379,426 (GRCm38)	missense	possibly damaging	0.90
FR4342:Fbrsl1	UTSW	5	110,378,125 (GRCm38)	small insertion	probably benign
FR4589:Fbrsl1	UTSW	5	110,378,150 (GRCm38)	small insertion	probably benign
R0084:Fbrsl1	UTSW	5	110,379,515 (GRCm38)	missense	probably damaging	0.99
R0126:Fbrsl1	UTSW	5	110,396,040 (GRCm38)	splice site	probably benign
R0336:Fbrsl1	UTSW	5	110,447,951 (GRCm38)	missense	probably damaging	0.96
R1196:Fbrsl1	UTSW	5	110,374,519 (GRCm38)	missense	probably benign	0.21
R1712:Fbrsl1	UTSW	5	110,447,996 (GRCm38)	missense	probably benign	0.01
R1998:Fbrsl1	UTSW	5	110,376,439 (GRCm38)	missense	probably benign	0.43
R2081:Fbrsl1	UTSW	5	110,371,625 (GRCm38)	critical splice acceptor site	probably null
R2108:Fbrsl1	UTSW	5	110,378,434 (GRCm38)	missense	probably damaging	0.97
R4420:Fbrsl1	UTSW	5	110,378,986 (GRCm38)	missense	possibly damaging	0.66
R4472:Fbrsl1	UTSW	5	110,379,066 (GRCm38)	start gained	probably benign
R4931:Fbrsl1	UTSW	5	110,379,029 (GRCm38)	missense	possibly damaging	0.89
R4994:Fbrsl1	UTSW	5	110,447,951 (GRCm38)	missense	probably damaging	0.96
R5025:Fbrsl1	UTSW	5	110,417,901 (GRCm38)	missense	probably damaging	0.99
R5084:Fbrsl1	UTSW	5	110,379,406 (GRCm38)	start gained	probably benign
R5326:Fbrsl1	UTSW	5	110,378,441 (GRCm38)	missense	probably damaging	1.00
R5542:Fbrsl1	UTSW	5	110,378,441 (GRCm38)	missense	probably damaging	1.00
R5590:Fbrsl1	UTSW	5	110,381,618 (GRCm38)	missense	probably damaging	0.96
R6168:Fbrsl1	UTSW	5	110,396,056 (GRCm38)	missense	probably damaging	0.97
R6234:Fbrsl1	UTSW	5	110,378,051 (GRCm38)	missense	probably damaging	0.97
R6325:Fbrsl1	UTSW	5	110,377,407 (GRCm38)	missense	probably damaging	1.00
R6661:Fbrsl1	UTSW	5	110,378,097 (GRCm38)	missense	probably damaging	1.00
R7269:Fbrsl1	UTSW	5	110,433,014 (GRCm38)	missense	probably benign	0.15
R7514:Fbrsl1	UTSW	5	110,432,933 (GRCm38)	missense	probably benign	0.06
R7586:Fbrsl1	UTSW	5	110,378,154 (GRCm38)	missense	probably damaging	0.99
R7791:Fbrsl1	UTSW	5	110,448,019 (GRCm38)	missense	probably benign	0.00
R8108:Fbrsl1	UTSW	5	110,378,379 (GRCm38)	splice site	probably null
R8182:Fbrsl1	UTSW	5	110,378,995 (GRCm38)	missense	possibly damaging	0.46
R8679:Fbrsl1	UTSW	5	110,378,220 (GRCm38)	missense	probably damaging	1.00
R9234:Fbrsl1	UTSW	5	110,363,384 (GRCm38)	missense	probably benign	0.00
R9753:Fbrsl1	UTSW	5	110,378,969 (GRCm38)	missense	unknown
RF008:Fbrsl1	UTSW	5	110,378,118 (GRCm38)	small insertion	probably benign
RF031:Fbrsl1	UTSW	5	110,378,151 (GRCm38)	small insertion	probably benign
RF033:Fbrsl1	UTSW	5	110,378,125 (GRCm38)	small insertion	probably benign
RF034:Fbrsl1	UTSW	5	110,378,149 (GRCm38)	small insertion	probably benign
RF037:Fbrsl1	UTSW	5	110,378,151 (GRCm38)	nonsense	probably null
RF061:Fbrsl1	UTSW	5	110,378,131 (GRCm38)	small insertion	probably benign
RF063:Fbrsl1	UTSW	5	110,378,143 (GRCm38)	small insertion	probably benign
RF063:Fbrsl1	UTSW	5	110,378,139 (GRCm38)	small insertion	probably benign
RF064:Fbrsl1	UTSW	5	110,378,131 (GRCm38)	small insertion	probably benign
V7582:Fbrsl1	UTSW	5	110,379,426 (GRCm38)	missense	possibly damaging	0.90
X0018:Fbrsl1	UTSW	5	110,379,426 (GRCm38)	missense	possibly damaging	0.90
X0019:Fbrsl1	UTSW	5	110,379,426 (GRCm38)	missense	possibly damaging	0.90
X0020:Fbrsl1	UTSW	5	110,379,426 (GRCm38)	missense	possibly damaging	0.90
X0021:Fbrsl1	UTSW	5	110,379,426 (GRCm38)	missense	possibly damaging	0.90
X0022:Fbrsl1	UTSW	5	110,379,426 (GRCm38)	missense	possibly damaging	0.90
X0022:Fbrsl1	UTSW	5	110,371,549 (GRCm38)	missense	probably damaging	1.00
X0023:Fbrsl1	UTSW	5	110,379,426 (GRCm38)	missense	possibly damaging	0.90
X0024:Fbrsl1	UTSW	5	110,379,426 (GRCm38)	missense	possibly damaging	0.90
X0027:Fbrsl1	UTSW	5	110,379,426 (GRCm38)	missense	possibly damaging	0.90
X0050:Fbrsl1	UTSW	5	110,379,426 (GRCm38)	missense	possibly damaging	0.90
X0052:Fbrsl1	UTSW	5	110,379,426 (GRCm38)	missense	possibly damaging	0.90
X0053:Fbrsl1	UTSW	5	110,379,426 (GRCm38)	missense	possibly damaging	0.90
X0054:Fbrsl1	UTSW	5	110,379,426 (GRCm38)	missense	possibly damaging	0.90
X0057:Fbrsl1	UTSW	5	110,379,426 (GRCm38)	missense	possibly damaging	0.90
X0058:Fbrsl1	UTSW	5	110,379,426 (GRCm38)	missense	possibly damaging	0.90
X0060:Fbrsl1	UTSW	5	110,379,426 (GRCm38)	missense	possibly damaging	0.90
X0061:Fbrsl1	UTSW	5	110,379,426 (GRCm38)	missense	possibly damaging	0.90
X0062:Fbrsl1	UTSW	5	110,379,426 (GRCm38)	missense	possibly damaging	0.90
X0063:Fbrsl1	UTSW	5	110,379,426 (GRCm38)	missense	possibly damaging	0.90
X0064:Fbrsl1	UTSW	5	110,379,426 (GRCm38)	missense	possibly damaging	0.90
X0065:Fbrsl1	UTSW	5	110,379,426 (GRCm38)	missense	possibly damaging	0.90
X0066:Fbrsl1	UTSW	5	110,379,426 (GRCm38)	missense	possibly damaging	0.90
X0067:Fbrsl1	UTSW	5	110,379,426 (GRCm38)	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