Mutagenetix > Incidental Mutation

Incidental Mutation 'R7184:Fsd1l'

559166

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

045236-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.683) question?

Stock #

R7184 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53631471-53707009 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 53694054 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 344 (R344S)

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 damaging
Transcript: ENSMUST00000132151
AA Change: R334S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000114931
Gene: ENSMUSG00000054752
AA Change: R334S

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 damaging
Transcript: ENSMUST00000159415
AA Change: R344S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124002
Gene: ENSMUSG00000054752
AA Change: R344S

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 damaging
Transcript: ENSMUST00000163067
AA Change: R333S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124613
Gene: ENSMUSG00000054752
AA Change: R333S

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

possibly damaging
Transcript: ENSMUST00000180164
AA Change: R334S

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000136184
Gene: ENSMUSG00000054752
AA Change: R334S

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: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (63/63)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	A	G	6: 23,094,219 (GRCm39)	S500P	possibly damaging	Het
Aldh9a1	T	A	1: 167,184,965 (GRCm39)	N292K	probably benign	Het
Art2b	A	T	7: 101,229,658 (GRCm39)	S80R	probably benign	Het
Atp6v1b2	G	T	8: 69,555,219 (GRCm39)	A194S	possibly damaging	Het
Bsnd	T	C	4: 106,349,109 (GRCm39)	M44V	probably damaging	Het
Cadps2	A	T	6: 23,583,428 (GRCm39)	V383E	probably benign	Het
Cd93	T	C	2: 148,284,459 (GRCm39)	T296A	possibly damaging	Het
Cdk15	G	T	1: 59,304,814 (GRCm39)	E138D	probably benign	Het
Cdon	A	G	9: 35,375,191 (GRCm39)	I406V	probably benign	Het
Cfhr4	A	G	1: 139,660,822 (GRCm39)	V622A	possibly damaging	Het
Cyp3a41a	A	G	5: 145,642,663 (GRCm39)	V232A	probably benign	Het
Dbndd1	T	A	8: 124,235,860 (GRCm39)	D130V	probably damaging	Het
Dnah14	C	T	1: 181,532,094 (GRCm39)	R2294*	probably null	Het
Eddm3b	A	G	14: 51,354,387 (GRCm39)	Y125C	probably damaging	Het
Eif1ad14	G	A	12: 87,886,492 (GRCm39)	R46W	possibly damaging	Het
Enah	A	T	1: 181,749,957 (GRCm39)	V294E	probably damaging	Het
Farp2	A	G	1: 93,531,137 (GRCm39)	E545G	probably damaging	Het
Farsb	T	C	1: 78,458,994 (GRCm39)	E22G	possibly damaging	Het
Fcsk	G	A	8: 111,613,788 (GRCm39)	P758S	probably damaging	Het
Fezf1	A	G	6: 23,247,835 (GRCm39)	V80A	probably benign	Het
Fpr2	T	C	17: 18,113,533 (GRCm39)	Y39H	unknown	Het
Fxyd1	G	T	7: 30,751,401 (GRCm39)	R90S	unknown	Het
Galnt4	T	A	10: 98,944,466 (GRCm39)	Y64N	probably damaging	Het
Gatb	C	T	3: 85,544,258 (GRCm39)	Q409*	probably null	Het
Glipr2	A	C	4: 43,968,667 (GRCm39)	D73A	possibly damaging	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,450 (GRCm39)		probably benign	Het
Gpr88	C	T	3: 116,045,643 (GRCm39)	V223I	possibly damaging	Het
Gtf2h3	A	G	5: 124,722,067 (GRCm39)	N55S	probably benign	Het
Htr4	T	A	18: 62,570,498 (GRCm39)	C184*	probably null	Het
Ighv6-3	T	A	12: 114,355,475 (GRCm39)	R71S	probably benign	Het
Itpr2	G	C	6: 146,212,585 (GRCm39)	I1510M	possibly damaging	Het
Keap1	T	C	9: 21,145,134 (GRCm39)	Q292R	probably benign	Het
Mab21l4	T	C	1: 93,082,237 (GRCm39)	N294S	probably benign	Het
Malt1	A	C	18: 65,580,764 (GRCm39)	E219D	probably benign	Het
Manba	T	C	3: 135,228,915 (GRCm39)	V279A	possibly damaging	Het
Map4k5	T	A	12: 69,921,095 (GRCm39)	H41L	probably benign	Het
Mcm2	T	G	6: 88,868,776 (GRCm39)	Y327S	probably damaging	Het
Nectin3	A	G	16: 46,215,484 (GRCm39)	I503T	possibly damaging	Het
Nqo1	T	C	8: 108,119,279 (GRCm39)	I99M	probably damaging	Het
Nrxn2	A	G	19: 6,540,582 (GRCm39)	H845R	probably damaging	Het
Otogl	C	T	10: 107,599,061 (GRCm39)	C2254Y	probably damaging	Het
Pmm1	T	C	15: 81,840,415 (GRCm39)	N110S	probably damaging	Het
Poc1b	G	T	10: 98,970,199 (GRCm39)	C68F	probably benign	Het
Polr1b	A	G	2: 128,965,842 (GRCm39)	Y828C	possibly damaging	Het
Prl3d1	A	G	13: 27,282,619 (GRCm39)	H119R	probably damaging	Het
Pum3	A	G	19: 27,403,412 (GRCm39)	S30P	probably benign	Het
Rgl2	T	C	17: 34,153,964 (GRCm39)	F457L	possibly damaging	Het
Rusc1	T	C	3: 88,999,194 (GRCm39)	E196G	possibly damaging	Het
Sf3a3	A	G	4: 124,608,772 (GRCm39)	K29E	probably benign	Het
Slc13a1	A	T	6: 24,092,311 (GRCm39)	I475K	probably damaging	Het
Slc26a5	G	T	5: 22,042,244 (GRCm39)	Y237*	probably null	Het
Slc7a14	C	T	3: 31,281,212 (GRCm39)	G366D	probably damaging	Het
Tbc1d5	A	G	17: 51,107,110 (GRCm39)	V482A	probably benign	Het
Tdrd5	G	T	1: 156,087,505 (GRCm39)	Q883K	probably benign	Het
Tet2	T	C	3: 133,179,391 (GRCm39)	Y1258C	probably damaging	Het
Upf2	A	G	2: 6,028,131 (GRCm39)	D739G	unknown	Het
Vmn1r122	A	T	7: 20,867,820 (GRCm39)	F78L	probably benign	Het
Vmn1r75	A	T	7: 11,614,915 (GRCm39)	K216*	probably null	Het
Vmn2r11	A	T	5: 109,201,281 (GRCm39)	Y408N	probably damaging	Het
Wscd1	T	A	11: 71,679,543 (GRCm39)	V472D	probably damaging	Het
Zdbf2	G	T	1: 63,345,664 (GRCm39)	V1348F	possibly damaging	Het
Zfp442	G	T	2: 150,250,056 (GRCm39)	H615Q	possibly damaging	Het
Zfp457	C	A	13: 67,442,065 (GRCm39)	C170F	possibly damaging	Het
Zscan10	A	G	17: 23,826,003 (GRCm39)		probably null	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
R7285:Fsd1l	UTSW	4	53,682,200 (GRCm39)	critical splice donor site	probably null
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'- TGACATTAGTGTTTTCAGCCTGC -3'
(R):5'- AGCCTGAAACTCAGTCTCAGTG -3'

Sequencing Primer
(F):5'- GGATGGCTTCTTACATATAAGTGC -3'
(R):5'- CTGAAACTCAGTCTCAGTGTACAG -3'

Posted On

2019-06-26