Mutagenetix > Incidental Mutation

Incidental Mutation 'R8926:Fsd1l'

679527

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

068770-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.683) question?

Stock #

R8926 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53631471-53707009 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 53686493 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 302 (I302S)

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 benign
Transcript: ENSMUST00000132151
AA Change: I302S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000114931
Gene: ENSMUSG00000054752
AA Change: I302S

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 benign
Transcript: ENSMUST00000159415
AA Change: I302S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000124002
Gene: ENSMUSG00000054752
AA Change: I302S

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 benign
Transcript: ENSMUST00000163067
AA Change: I302S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000124613
Gene: ENSMUSG00000054752
AA Change: I302S

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 benign
Transcript: ENSMUST00000180164
AA Change: I302S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000136184
Gene: ENSMUSG00000054752
AA Change: I302S

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: 99.9%
20x: 99.6%

Validation Efficiency

100% (69/69)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf3	T	A	5: 30,405,446 (GRCm39)	D296V	possibly damaging	Het
Ahi1	T	C	10: 20,930,982 (GRCm39)	Y941H	probably damaging	Het
Bscl2	T	C	19: 8,825,348 (GRCm39)		probably null	Het
C1s1	C	T	6: 124,510,325 (GRCm39)	G374D	probably damaging	Het
C1s1	T	C	6: 124,513,322 (GRCm39)	D235G	possibly damaging	Het
Cacna1e	C	T	1: 154,577,080 (GRCm39)	V106I	possibly damaging	Het
Ccdc97	G	A	7: 25,412,494 (GRCm39)	A316V	probably benign	Het
Ces1a	A	G	8: 93,751,841 (GRCm39)	V431A	probably benign	Het
Cftr	C	T	6: 18,268,003 (GRCm39)	S684L	possibly damaging	Het
Cgnl1	T	A	9: 71,632,535 (GRCm39)	N272I	probably benign	Het
Csf2rb	C	T	15: 78,224,749 (GRCm39)	S169L	probably benign	Het
Cux1	T	A	5: 136,338,404 (GRCm39)		probably benign	Het
Cyp11b1	T	A	15: 74,711,087 (GRCm39)	Y197F	probably benign	Het
Cyp1a2	T	C	9: 57,588,361 (GRCm39)	K288E	probably benign	Het
Dapk1	T	A	13: 60,908,734 (GRCm39)	W1116R	probably damaging	Het
Dclre1c	A	T	2: 3,434,827 (GRCm39)	D97V	probably damaging	Het
Efcc1	A	G	6: 87,726,169 (GRCm39)	R323G	probably benign	Het
Epha6	T	A	16: 59,659,662 (GRCm39)	I819F	probably benign	Het
Fam118b	A	T	9: 35,146,732 (GRCm39)	L45Q	probably damaging	Het
Fcgbpl1	G	A	7: 27,853,869 (GRCm39)	C1611Y	probably damaging	Het
Fsip2	T	A	2: 82,823,927 (GRCm39)	D6553E	possibly damaging	Het
Gje1	C	T	10: 14,592,435 (GRCm39)	V116I	probably benign	Het
H2-T9	T	A	17: 36,420,626 (GRCm39)		probably null	Het
Helz	C	A	11: 107,563,509 (GRCm39)	H1650N	unknown	Het
Hltf	T	G	3: 20,123,323 (GRCm39)		probably null	Het
Intu	T	A	3: 40,608,139 (GRCm39)	D50E	possibly damaging	Het
Ipo9	C	T	1: 135,313,952 (GRCm39)		probably benign	Het
Lama5	G	A	2: 179,835,783 (GRCm39)	T1217I	probably benign	Het
Lct	T	A	1: 128,228,148 (GRCm39)	Y1115F	probably damaging	Het
Lpgat1	T	C	1: 191,492,120 (GRCm39)	L202P	probably damaging	Het
Lrp1	C	T	10: 127,381,671 (GRCm39)	R3801H	probably benign	Het
Mtfmt	T	A	9: 65,344,414 (GRCm39)	Y113*	probably null	Het
Myh7	A	G	14: 55,222,533 (GRCm39)	F801L	probably benign	Het
Myl4	G	T	11: 104,476,572 (GRCm39)	M191I	probably benign	Het
Myo3a	C	A	2: 22,401,074 (GRCm39)	N614K	possibly damaging	Het
Naa30	A	G	14: 49,425,059 (GRCm39)	N337S	probably benign	Het
Nol10	C	A	12: 17,466,871 (GRCm39)	Q584K	probably benign	Het
Nup210	C	A	6: 91,030,434 (GRCm39)	G919C	probably damaging	Het
Or13a20	G	A	7: 140,232,113 (GRCm39)	V74M	probably benign	Het
Or5p57	G	A	7: 107,665,513 (GRCm39)	T134I	probably benign	Het
Pdcd6ip	T	A	9: 113,514,493 (GRCm39)	Q244L	probably benign	Het
Pde4d	T	C	13: 110,074,625 (GRCm39)	V410A	probably benign	Het
Plekha7	A	T	7: 115,756,223 (GRCm39)		probably benign	Het
Plpp4	A	T	7: 128,923,211 (GRCm39)		probably null	Het
Poln	T	C	5: 34,286,769 (GRCm39)	N133S	probably benign	Het
Ppfibp1	A	G	6: 146,920,986 (GRCm39)	N575D	probably damaging	Het
Prex2	T	A	1: 11,159,930 (GRCm39)		probably null	Het
Prkar2b	A	G	12: 32,111,080 (GRCm39)	M1T	probably null	Het
Ptcd3	A	G	6: 71,869,464 (GRCm39)	F378S	probably damaging	Het
Rab27b	C	A	18: 70,129,144 (GRCm39)	R50L	probably damaging	Het
Rpl7a	T	G	2: 26,801,557 (GRCm39)	F83C	probably damaging	Het
Slc8a2	A	G	7: 15,868,194 (GRCm39)	E142G	probably damaging	Het
Slc9a4	A	T	1: 40,619,928 (GRCm39)	I85L	possibly damaging	Het
Sorcs1	C	A	19: 50,241,096 (GRCm39)	W430L	possibly damaging	Het
Spaca6	T	A	17: 18,058,790 (GRCm39)		probably null	Het
Synrg	C	A	11: 83,881,567 (GRCm39)	A301E	possibly damaging	Het
Tcl1	G	A	12: 105,184,969 (GRCm39)		probably benign	Het
Tecpr1	C	T	5: 144,153,780 (GRCm39)	V158M	probably damaging	Het
Tex2	T	G	11: 106,459,230 (GRCm39)	T67P		Het
Tlr9	A	T	9: 106,103,213 (GRCm39)	I835L	probably benign	Het
Tmem185b	G	C	1: 119,454,406 (GRCm39)	V56L	probably benign	Het
Tssk2	C	T	16: 17,717,562 (GRCm39)	R322W	probably benign	Het
Ttn	T	A	2: 76,571,735 (GRCm39)	Y26386F	probably benign	Het
Txndc16	C	A	14: 45,406,771 (GRCm39)	R228I	possibly damaging	Het
Uspl1	T	G	5: 149,138,701 (GRCm39)		probably null	Het
Vmn1r113	A	T	7: 20,521,874 (GRCm39)	H222L	possibly damaging	Het
Vnn1	T	G	10: 23,776,587 (GRCm39)	S313A	probably benign	Het
Zc3hc1	A	T	6: 30,374,887 (GRCm39)	L218Q	possibly damaging	Het
Znrf1	T	G	8: 112,264,143 (GRCm39)	L124R	probably damaging	Het
Zzz3	A	T	3: 152,133,529 (GRCm39)	N196Y	possibly damaging	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
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
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'- ACATGACAGGTGTGTTTCAGAC -3'
(R):5'- GCAGCCATCTTTCAGGTAAGAC -3'

Sequencing Primer
(F):5'- TTCAGACAGTGGAGATGTCTTAC -3'
(R):5'- GCCATCTTTCAGGTAAGACAGATGAC -3'

Posted On

2021-08-02