Mutagenetix > Incidental Mutation

Incidental Mutation 'R6216:Fsd1l'

503701

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

044349-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.612) question?

Stock #

R6216 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53631471-53707009 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53694742 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 388 (C388R)

Ref Sequence

ENSEMBL: ENSMUSP00000124613 (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: C389R

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

SMART Domains

Protein: ENSMUSP00000114931
Gene: ENSMUSG00000054752
AA Change: C389R

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: C399R

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000124002
Gene: ENSMUSG00000054752
AA Change: C399R

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: C388R

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

SMART Domains

Protein: ENSMUSP00000124613
Gene: ENSMUSG00000054752
AA Change: C388R

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 damaging
Transcript: ENSMUST00000180164
AA Change: C389R

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000136184
Gene: ENSMUSG00000054752
AA Change: C389R

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: 99.5%
20x: 98.5%

Validation Efficiency

97% (67/69)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	T	C	9: 57,164,910 (GRCm39)	D488G	probably benign	Het
Adgrv1	C	A	13: 81,672,590 (GRCm39)		probably null	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Alkbh3	G	A	2: 93,838,881 (GRCm39)		probably benign	Het
Ankrd22	A	T	19: 34,101,569 (GRCm39)		probably null	Het
Anks1b	A	G	10: 90,096,618 (GRCm39)	D425G	probably damaging	Het
Arid2	A	G	15: 96,254,790 (GRCm39)	D212G	probably benign	Het
Bbx	A	T	16: 50,071,751 (GRCm39)	S225T	probably benign	Het
Bivm	T	A	1: 44,166,028 (GRCm39)		probably null	Het
Bpifb3	A	G	2: 153,767,773 (GRCm39)	Y282C	probably benign	Het
Cacna1h	A	T	17: 25,597,793 (GRCm39)	I1767N	probably damaging	Het
Ccdc28a	G	T	10: 18,100,719 (GRCm39)	S36*	probably null	Het
Ccser2	A	G	14: 36,662,465 (GRCm39)	S240P	probably damaging	Het
Ceacam1	A	T	7: 25,171,421 (GRCm39)	S348T	probably benign	Het
Ddx49	C	T	8: 70,749,934 (GRCm39)	G161D	probably damaging	Het
Dhx16	A	G	17: 36,193,864 (GRCm39)	E353G	possibly damaging	Het
Dnaaf6rt	A	T	1: 31,262,432 (GRCm39)	D138V	probably damaging	Het
Etv2	A	G	7: 30,334,036 (GRCm39)		probably null	Het
Extl1	T	C	4: 134,090,441 (GRCm39)	T345A	probably benign	Het
Fam163a	A	T	1: 155,954,741 (GRCm39)	S137T	probably benign	Het
Fermt2	A	T	14: 45,697,338 (GRCm39)	M671K	possibly damaging	Het
Galnt18	A	C	7: 111,112,757 (GRCm39)	V470G	probably benign	Het
Grin2b	T	A	6: 135,749,397 (GRCm39)	I602F	probably damaging	Het
Gucy1b1	G	T	3: 81,954,020 (GRCm39)		probably null	Het
Hace1	T	C	10: 45,494,643 (GRCm39)	V151A	probably benign	Het
Hadhb	T	A	5: 30,379,929 (GRCm39)	D258E	probably benign	Het
Heatr1	C	T	13: 12,447,545 (GRCm39)	T1746I	probably benign	Het
Hrnr	T	C	3: 93,239,469 (GRCm39)	S3236P	unknown	Het
Kcnd1	G	C	X: 7,690,148 (GRCm39)	A23P	probably damaging	Homo
Kiz	C	A	2: 146,731,417 (GRCm39)	D302E	probably damaging	Het
Kng2	A	T	16: 22,806,343 (GRCm39)	W619R	probably damaging	Het
Mfap3l	C	A	8: 61,124,841 (GRCm39)	T361K	probably damaging	Het
Mlec	T	C	5: 115,288,376 (GRCm39)	H160R	probably benign	Het
Myo16	T	C	8: 10,365,494 (GRCm39)	L89P	probably benign	Het
Neb	T	C	2: 52,114,564 (GRCm39)	I4232V	probably benign	Het
Nf1	A	G	11: 79,302,433 (GRCm39)	I334V	possibly damaging	Het
Nipbl	A	C	15: 8,347,867 (GRCm39)	F1942V	probably damaging	Het
Or2ag17	A	T	7: 106,389,665 (GRCm39)	I181N	probably benign	Het
Or4a70	C	A	2: 89,324,066 (GRCm39)	V197F	probably damaging	Het
Or4c11c	T	C	2: 88,661,655 (GRCm39)	S65P	probably damaging	Het
Or51a10	A	G	7: 103,698,902 (GRCm39)	Y220H	probably damaging	Het
Pabpc2	G	T	18: 39,907,772 (GRCm39)	A346S	probably damaging	Het
Paxip1	T	C	5: 27,971,171 (GRCm39)	T393A	unknown	Het
Pcdhgb5	A	T	18: 37,864,981 (GRCm39)	T259S	probably benign	Het
Pfkp	A	T	13: 6,669,224 (GRCm39)	L253H	probably benign	Het
Piezo1	T	C	8: 123,215,869 (GRCm39)	D1428G	probably benign	Het
Pkd1l2	T	G	8: 117,808,209 (GRCm39)	D105A	probably damaging	Het
Pou2f1	G	T	1: 165,707,889 (GRCm39)		probably benign	Het
Ppfia4	T	C	1: 134,256,921 (GRCm39)	E100G	probably damaging	Het
Ppp1r15a	G	T	7: 45,173,446 (GRCm39)	T454K	probably damaging	Het
Prpsap1	A	T	11: 116,362,239 (GRCm39)	I381N	probably damaging	Het
Ptx3	T	A	3: 66,132,265 (GRCm39)	V262E	probably damaging	Het
Rab21	A	T	10: 115,130,831 (GRCm39)	H158Q	probably benign	Het
Rasa2	A	G	9: 96,426,357 (GRCm39)	S830P	probably damaging	Het
Rdh1	G	A	10: 127,600,622 (GRCm39)	S215N	probably benign	Het
Rhot1	G	A	11: 80,141,885 (GRCm39)	R463H	probably benign	Het
Rsf1	CG	CGACGGCGGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Sart3	C	T	5: 113,881,267 (GRCm39)	A938T	probably benign	Het
Selenom	A	T	11: 3,464,915 (GRCm39)		probably benign	Het
Selenop	T	C	15: 3,308,947 (GRCm39)	C300R	probably damaging	Het
Skint1	T	A	4: 111,878,679 (GRCm39)	S204T	probably benign	Het
Ss18l1	A	G	2: 179,703,706 (GRCm39)	N313S	unknown	Het
Sycp2l	A	G	13: 41,295,200 (GRCm39)	D289G	probably damaging	Het
Terf1	C	T	1: 15,889,221 (GRCm39)	H188Y	probably benign	Het
Tmem116	C	T	5: 121,629,171 (GRCm39)	T188M	probably benign	Het
Trdn	A	G	10: 33,181,065 (GRCm39)	T357A	probably damaging	Het
Trip11	A	C	12: 101,856,859 (GRCm39)	M401R	probably benign	Het
Ubald2	A	C	11: 116,325,211 (GRCm39)	D26A	probably benign	Het
Ube2w	C	G	1: 16,689,508 (GRCm39)		probably benign	Het
Vmn2r101	T	A	17: 19,811,267 (GRCm39)	S450R	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
R7184:Fsd1l	UTSW	4	53,694,054 (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'- AACATCTGTGACTCATAAGTAGGAC -3'
(R):5'- AACTGTTCAGCCTAACGCCTG -3'

Sequencing Primer
(F):5'- GTGACTCATAAGTAGGACAAAATGTC -3'
(R):5'- TCAGGAACAGGAACATCCA -3'

Posted On

2018-02-27