Mutagenetix > Incidental Mutation

Incidental Mutation 'R7285:Fsd1l'

565925

Institutional Source

Beutler Lab

Gene Symbol

Fsd1l

Ensembl Gene

ENSMUSG00000054752

Gene Name

fibronectin type III and SPRY domain containing 1-like

Synonyms

Csdufd1, Fsd1nl, A230072O16Rik, Ccdc10

MMRRC Submission

045393-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.683) question?

Stock #

R7285 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53631471-53707009 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 53682200 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000124002 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000132151] [ENSMUST00000159415] [ENSMUST00000163067] [ENSMUST00000180164]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000132151

SMART Domains

Protein: ENSMUSP00000114931
Gene: ENSMUSG00000054752

Domain	Start	End	E-Value	Type
BBC	4	130	4.3e-8	SMART
FN3	165	255	2.21e-3	SMART
Pfam:SPRY	350	470	3.2e-17	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000159415

SMART Domains

Protein: ENSMUSP00000124002
Gene: ENSMUSG00000054752

Domain	Start	End	E-Value	Type
BBC	4	130	4.3e-8	SMART
FN3	165	255	2.21e-3	SMART
Pfam:SPRY	360	480	2e-16	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000163067

SMART Domains

Protein: ENSMUSP00000124613
Gene: ENSMUSG00000054752

Domain	Start	End	E-Value	Type
BBC	4	130	4.3e-8	SMART
FN3	165	255	2.21e-3	SMART
Pfam:SPRY	349	469	3.6e-17	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000180164

SMART Domains

Protein: ENSMUSP00000136184
Gene: ENSMUSG00000054752

Domain	Start	End	E-Value	Type
BBC	4	130	1.4e-7	SMART
FN3	165	255	2.21e-3	SMART
Pfam:SPRY	350	470	1.2e-16	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	T	1: 71,388,314 (GRCm39)	C185*	probably null	Het
Abcc3	C	T	11: 94,247,873 (GRCm39)	A1207T	probably benign	Het
Adam1b	T	G	5: 121,639,056 (GRCm39)	D663A	probably damaging	Het
Arhgap12	A	T	18: 6,111,920 (GRCm39)	L148Q	probably damaging	Het
Cdh4	A	T	2: 179,439,258 (GRCm39)	Q135L	probably benign	Het
Clca3b	T	C	3: 144,543,519 (GRCm39)	I437V	probably benign	Het
Cldn15	A	T	5: 137,001,327 (GRCm39)	H124L	probably benign	Het
Cyp4a30b	T	C	4: 115,313,848 (GRCm39)	M143T	probably damaging	Het
Dgcr2	A	T	16: 17,662,944 (GRCm39)	C353*	probably null	Het
Dhcr24	T	A	4: 106,428,716 (GRCm39)		probably null	Het
Dock1	T	G	7: 134,346,737 (GRCm39)	L223R	probably benign	Het
Ece1	T	A	4: 137,641,074 (GRCm39)		probably null	Het
Efcab5	A	G	11: 77,028,170 (GRCm39)	V387A	probably benign	Het
Efcab5	A	G	11: 77,029,041 (GRCm39)	F97L	possibly damaging	Het
Eme2	A	T	17: 25,113,543 (GRCm39)		probably null	Het
Enpp1	G	A	10: 24,536,059 (GRCm39)	T447I	probably benign	Het
Fam222b	T	C	11: 78,034,007 (GRCm39)	S17P	probably benign	Het
Fbln1	A	G	15: 85,121,829 (GRCm39)	I317V	probably benign	Het
Fn1	T	C	1: 71,676,498 (GRCm39)	K578E	probably damaging	Het
Fscb	A	T	12: 64,518,323 (GRCm39)	S1048T	unknown	Het
Hexa	T	A	9: 59,471,222 (GRCm39)	I492K	probably benign	Het
Inpp5e	G	A	2: 26,287,870 (GRCm39)	A642V	probably benign	Het
Ints11	C	T	4: 155,970,568 (GRCm39)	A241V	probably damaging	Het
Irs2	A	G	8: 11,056,797 (GRCm39)	L545P	probably damaging	Het
Katnal2	G	A	18: 77,081,271 (GRCm39)	A409V	probably benign	Het
Kif13a	C	T	13: 46,905,931 (GRCm39)	V671M	possibly damaging	Het
Lbx2	A	G	6: 83,064,877 (GRCm39)	K138R	probably damaging	Het
Lcor	A	G	19: 41,572,754 (GRCm39)	K503R	possibly damaging	Het
Lpp	G	A	16: 24,796,029 (GRCm39)	A558T	probably damaging	Het
Lypla1	T	C	1: 4,911,321 (GRCm39)	I202T	probably benign	Het
Magi3	G	A	3: 103,941,430 (GRCm39)	P842S	probably benign	Het
Meioc	G	A	11: 102,557,168 (GRCm39)	V25M	probably benign	Het
Mthfr	C	T	4: 148,138,056 (GRCm39)	T557I	probably benign	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Or2t44	T	A	11: 58,677,310 (GRCm39)	Y83*	probably null	Het
Or5d20-ps1	A	T	2: 87,932,049 (GRCm39)	I94N	probably damaging	Het
Osbpl10	A	T	9: 115,052,771 (GRCm39)	I440F	probably damaging	Het
Otx2	G	A	14: 48,898,922 (GRCm39)	A36V	probably benign	Het
Parg	A	G	14: 31,932,465 (GRCm39)	Y435C	probably damaging	Het
Parvb	A	T	15: 84,166,985 (GRCm39)	D100V	possibly damaging	Het
Prss27	A	G	17: 24,264,665 (GRCm39)	H276R	probably benign	Het
Prune1	T	A	3: 95,162,357 (GRCm39)	S439C	probably damaging	Het
Pudp	C	G	18: 50,701,287 (GRCm39)	E149Q	possibly damaging	Het
Qng1	T	C	13: 58,532,199 (GRCm39)	Y119C	probably damaging	Het
Sin3a	C	A	9: 57,034,583 (GRCm39)	T1252N	possibly damaging	Het
Sptbn2	A	G	19: 4,787,471 (GRCm39)	D927G	probably benign	Het
Stx18	C	T	5: 38,262,251 (GRCm39)	T89I	possibly damaging	Het
Ticrr	T	C	7: 79,310,610 (GRCm39)	S175P	possibly damaging	Het
Tinag	T	C	9: 76,952,943 (GRCm39)	T14A	probably benign	Het
Tmco3	G	A	8: 13,369,605 (GRCm39)		probably null	Het
Trpm1	G	T	7: 63,859,729 (GRCm39)	E396*	probably null	Het
Txndc11	A	G	16: 10,902,163 (GRCm39)	Y684H	probably damaging	Het
Usp47	G	A	7: 111,692,315 (GRCm39)	E926K	probably benign	Het
Vmn1r233	A	G	17: 21,214,221 (GRCm39)	I243T	probably damaging	Het
Ythdf3	T	A	3: 16,258,049 (GRCm39)		probably null	Het
Zfp12	A	G	5: 143,230,444 (GRCm39)	K289R	probably damaging	Het
Zfp950	T	A	19: 61,107,550 (GRCm39)	H511L	probably benign	Het

Other mutations in Fsd1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00975:Fsd1l	APN	4	53,682,187 (GRCm39)	missense	probably damaging	1.00
IGL01019:Fsd1l	APN	4	53,694,742 (GRCm39)	missense	probably damaging	1.00
IGL01154:Fsd1l	APN	4	53,701,074 (GRCm39)	missense	probably benign	0.01
IGL01359:Fsd1l	APN	4	53,659,601 (GRCm39)	missense	possibly damaging	0.78
IGL01996:Fsd1l	APN	4	53,647,760 (GRCm39)	missense	probably benign	0.00
IGL02192:Fsd1l	APN	4	53,647,754 (GRCm39)	missense	probably benign
IGL02629:Fsd1l	APN	4	53,686,417 (GRCm39)	missense	probably damaging	1.00
R0009:Fsd1l	UTSW	4	53,687,209 (GRCm39)	missense	probably benign	0.01
R0166:Fsd1l	UTSW	4	53,647,664 (GRCm39)	splice site	probably null
R0255:Fsd1l	UTSW	4	53,694,727 (GRCm39)	missense	probably damaging	1.00
R0349:Fsd1l	UTSW	4	53,679,854 (GRCm39)	missense	probably damaging	0.97
R0409:Fsd1l	UTSW	4	53,679,932 (GRCm39)	missense	probably benign	0.00
R1886:Fsd1l	UTSW	4	53,696,984 (GRCm39)	splice site	probably null
R1887:Fsd1l	UTSW	4	53,696,984 (GRCm39)	splice site	probably null
R2039:Fsd1l	UTSW	4	53,679,972 (GRCm39)	missense	probably benign	0.02
R2289:Fsd1l	UTSW	4	53,696,931 (GRCm39)	missense	possibly damaging	0.64
R4577:Fsd1l	UTSW	4	53,686,397 (GRCm39)	missense	probably damaging	1.00
R5134:Fsd1l	UTSW	4	53,647,766 (GRCm39)	missense	probably benign	0.43
R6073:Fsd1l	UTSW	4	53,679,994 (GRCm39)	missense	probably damaging	1.00
R6216:Fsd1l	UTSW	4	53,694,742 (GRCm39)	missense	probably damaging	1.00
R7184:Fsd1l	UTSW	4	53,694,054 (GRCm39)	missense	probably damaging	1.00
R7423:Fsd1l	UTSW	4	53,686,406 (GRCm39)	missense	probably damaging	1.00
R7465:Fsd1l	UTSW	4	53,647,755 (GRCm39)	missense	probably benign
R8723:Fsd1l	UTSW	4	53,647,001 (GRCm39)	missense	unknown
R8926:Fsd1l	UTSW	4	53,686,493 (GRCm39)	missense	probably benign
R9131:Fsd1l	UTSW	4	53,694,756 (GRCm39)	missense	probably damaging	0.98
R9220:Fsd1l	UTSW	4	53,679,799 (GRCm39)	nonsense	probably null
R9313:Fsd1l	UTSW	4	53,701,093 (GRCm39)	missense	possibly damaging	0.64
R9313:Fsd1l	UTSW	4	53,694,760 (GRCm39)	missense	probably damaging	1.00
R9380:Fsd1l	UTSW	4	53,693,991 (GRCm39)	missense	possibly damaging	0.69
R9448:Fsd1l	UTSW	4	53,694,826 (GRCm39)	nonsense	probably null
R9712:Fsd1l	UTSW	4	53,679,972 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- CTGTGTTCTTCTCAAGTAAAGGG -3'
(R):5'- GCCTAAGGAAAATTCTCCCTTCC -3'

Sequencing Primer
(F):5'- GTGTTCTTCTCAAGTAAAGGGATTTC -3'
(R):5'- TAAGGAAAATTCTCCCTTCCATAGC -3'

Posted On

2019-06-26