Mutagenetix > Incidental Mutation

Incidental Mutation 'R1196:Fbrsl1'

244130

Institutional Source

Beutler Lab

Gene Symbol

Fbrsl1

Ensembl Gene

ENSMUSG00000043323

Gene Name

fibrosin-like 1

Synonyms

LOC381668, 2410025L10Rik, Gm29766

MMRRC Submission

039268-MU

Accession Numbers

Essential gene?

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

Stock #

R1196 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

110509617-110596369 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 110522385 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 150 (M150L)

Ref Sequence

ENSEMBL: ENSMUSP00000054613 (fasta)

Gene Model

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

AlphaFold

E9Q9T0

Predicted Effect

probably benign
Transcript: ENSMUST00000056124
AA Change: M150L

PolyPhen 2 Score 0.214 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000054613
Gene: ENSMUSG00000043323
AA Change: M150L

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
AA Change: M588L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000063879
Gene: ENSMUSG00000043323
AA Change: M588L

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
AA Change: M174L

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000143147
Gene: ENSMUSG00000043323
AA Change: M174L

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

Meta Mutation Damage Score

0.0641

Coding Region Coverage

1x: 99.4%
3x: 98.3%
10x: 94.9%
20x: 86.8%

Validation Efficiency

97% (38/39)

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	T	C	5: 114,383,153 (GRCm39)	I2112T	probably benign	Het
Agtpbp1	C	A	13: 59,598,132 (GRCm39)		probably benign	Het
Ash1l	T	C	3: 88,890,623 (GRCm39)	M834T	probably damaging	Het
Aspg	A	G	12: 112,082,958 (GRCm39)	T213A	possibly damaging	Het
Chpf2	T	C	5: 24,794,646 (GRCm39)	V272A	possibly damaging	Het
D6Ertd527e	C	G	6: 87,088,506 (GRCm39)	T223S	unknown	Het
Ddah2	G	T	17: 35,280,503 (GRCm39)	D215Y	probably damaging	Het
Dna2	C	T	10: 62,784,966 (GRCm39)	R28W	probably benign	Het
Hmces	T	A	6: 87,913,164 (GRCm39)	D306E	probably benign	Het
Itga2	C	T	13: 115,002,691 (GRCm39)		probably null	Het
Jmjd1c	T	C	10: 67,075,015 (GRCm39)		probably benign	Het
Krr1	T	A	10: 111,811,562 (GRCm39)	H85Q	probably benign	Het
Krt87	C	T	15: 101,389,314 (GRCm39)	R6Q	probably benign	Het
Krtap24-1	T	C	16: 88,408,530 (GRCm39)	M199V	probably benign	Het
Krtap5-2	A	T	7: 141,728,620 (GRCm39)	C353*	probably null	Het
Myo7a	T	G	7: 97,746,880 (GRCm39)	I178L	possibly damaging	Het
Myof	G	A	19: 37,899,408 (GRCm39)	T1043I	probably damaging	Het
Noc4l	C	T	5: 110,798,450 (GRCm39)	E247K	probably damaging	Het
Notch4	T	C	17: 34,787,837 (GRCm39)	C437R	probably damaging	Het
Nrbp1	T	A	5: 31,403,157 (GRCm39)	I210N	probably damaging	Het
Or4p19	A	T	2: 88,242,890 (GRCm39)	N37K	probably damaging	Het
Or7e168	A	G	9: 19,719,928 (GRCm39)	I105V	probably benign	Het
Pank4	T	C	4: 155,062,630 (GRCm39)	F584L	probably damaging	Het
Prl2c2	G	C	13: 13,176,786 (GRCm39)	T47R	probably damaging	Het
Ranbp2	T	A	10: 58,312,875 (GRCm39)	F1198L	probably damaging	Het
Sf3b1	C	G	1: 55,058,554 (GRCm39)	E12Q	possibly damaging	Het
Tent5c	T	C	3: 100,380,316 (GRCm39)	T147A	possibly damaging	Het
Ttc28	G	A	5: 111,373,543 (GRCm39)	S962N	probably damaging	Het
Unc13a	A	G	8: 72,107,630 (GRCm39)	I554T	probably damaging	Het
Zfc3h1	A	G	10: 115,247,866 (GRCm39)	D1023G	probably damaging	Het
Zfp791	T	A	8: 85,837,583 (GRCm39)	K94*	probably null	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
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
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'- CATTCAGATCGCTGATCCCAGCTAC -3'
(R):5'- TGGTGCATGTCATTGCGACTCC -3'

Sequencing Primer
(F):5'- GCTGATCCCAGCTACCCTTG -3'
(R):5'- ACCACAGTAAGGTTCTGGTTC -3'

Posted On

2014-10-20