Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01154:Fsd1l'

51001

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fsd1l

Ensembl Gene

ENSMUSG00000054752

Gene Name

fibronectin type III and SPRY domain containing 1-like

Synonyms

A230072O16Rik, Csdufd1, Fsd1nl, Ccdc10

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.648) question?

Stock #

IGL01154

Quality Score

Status

Chromosome

Chromosomal Location

53631471-53707009 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53701074 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 469 (M469V)

Ref Sequence

ENSEMBL: ENSMUSP00000114931 (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: M469V

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000114931
Gene: ENSMUSG00000054752
AA Change: M469V

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: M479V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000124002
Gene: ENSMUSG00000054752
AA Change: M479V

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: M468V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000124613
Gene: ENSMUSG00000054752
AA Change: M468V

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: ENSMUST00000179534
AA Change: M479V

SMART Domains

Protein: ENSMUSP00000136849
Gene: ENSMUSG00000054752
AA Change: M479V

Domain	Start	End	E-Value	Type
BBC	4	130	4.3e-8	SMART
FN3	165	255	2.21e-3	SMART
Pfam:SPRY	362	479	2.6e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000180164
AA Change: M469V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000136184
Gene: ENSMUSG00000054752
AA Change: M469V

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,950,275	V124I	probably damaging	Het
2210408I21Rik	T	G	13: 77,281,094	F767V	probably benign	Het
A2m	C	A	6: 121,673,542	S1203*	probably null	Het
Abcc3	T	C	11: 94,359,232		probably benign	Het
Adamts13	T	C	2: 27,006,194	Y1200H	probably benign	Het
Aldh1l2	T	C	10: 83,520,373	D51G	probably damaging	Het
Apc2	A	G	10: 80,313,069	E1319G	possibly damaging	Het
Arap3	A	T	18: 37,996,734	S125T	probably benign	Het
Atp2b1	T	A	10: 98,996,888	V417E	probably damaging	Het
Bpifa1	T	A	2: 154,144,000	D78E	probably benign	Het
Catsperb	C	A	12: 101,625,681	A1090E	possibly damaging	Het
Ceacam9	C	A	7: 16,723,961	T138K	probably damaging	Het
Cenpf	T	A	1: 189,680,333	E244D	probably benign	Het
Cep135	A	T	5: 76,606,796		probably benign	Het
Cfap206	C	T	4: 34,721,562	S162N	probably damaging	Het
Col15a1	A	C	4: 47,208,450	T6P	possibly damaging	Het
Cyp11b1	T	A	15: 74,838,534	Q306L	probably benign	Het
Defa22	T	A	8: 21,163,037		probably null	Het
Dnah5	A	T	15: 28,458,656	T4480S	possibly damaging	Het
Fastkd1	T	C	2: 69,690,060		probably null	Het
Flt1	A	G	5: 147,576,156	Y1124H	possibly damaging	Het
Fxr2	T	C	11: 69,641,433		probably benign	Het
Gm10801	A	T	2: 98,663,983	Y135F	probably benign	Het
Grm4	A	T	17: 27,434,737	C699*	probably null	Het
Hcn4	A	G	9: 58,859,079	T677A	unknown	Het
Igkv9-123	G	T	6: 67,954,534		probably benign	Het
Irf4	T	A	13: 30,757,421	H253Q	possibly damaging	Het
Jakmip2	T	C	18: 43,590,679		probably benign	Het
Kmt2c	A	G	5: 25,284,399	V1134A	probably damaging	Het
Limch1	G	T	5: 66,745,958	E17*	probably null	Het
Nap1l1	T	A	10: 111,486,675	N72K	probably damaging	Het
Olfr1265	T	C	2: 90,037,468	L183P	probably damaging	Het
Olfr574	T	C	7: 102,948,839	S115P	probably damaging	Het
Otud6b	A	T	4: 14,811,732	Y304N	probably damaging	Het
Pdcd10	A	C	3: 75,541,233	M8R	probably damaging	Het
Ppip5k1	T	C	2: 121,343,179	T404A	probably damaging	Het
Ppp2r2d	C	T	7: 138,882,211	A197V	probably benign	Het
Psg25	C	T	7: 18,524,699	D351N	probably benign	Het
Sbno1	A	T	5: 124,410,249	I87N	probably damaging	Het
Stfa2l1	C	T	16: 36,159,937		probably benign	Het
Sugp2	T	A	8: 70,242,699	D107E	probably damaging	Het
Syne1	G	T	10: 5,360,848	F576L	probably damaging	Het
Syne3	A	G	12: 104,958,069	F357S	probably benign	Het
Tenm2	A	G	11: 36,041,544	L1741P	probably damaging	Het
Tgs1	A	T	4: 3,585,473	K117*	probably null	Het
Tram1	C	T	1: 13,579,449		probably null	Het
Trank1	T	A	9: 111,386,400	D1799E	probably benign	Het
Ttc14	A	T	3: 33,803,099	Y198F	probably benign	Het
Ube3b	A	G	5: 114,406,252	N570S	probably null	Het
Ube4b	A	G	4: 149,365,470	F412S	probably benign	Het
Vac14	T	C	8: 110,653,607		probably benign	Het
Vmn2r65	T	C	7: 84,943,521	T493A	probably benign	Het
Zfp408	T	C	2: 91,648,006		probably benign	Het
Zfp580	C	T	7: 5,053,268	T209I	possibly damaging	Het

Other mutations in Fsd1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00975:Fsd1l	APN	4	53682187	missense	probably damaging	1.00
IGL01019:Fsd1l	APN	4	53694742	missense	probably damaging	1.00
IGL01359:Fsd1l	APN	4	53659601	missense	possibly damaging	0.78
IGL01996:Fsd1l	APN	4	53647760	missense	probably benign	0.00
IGL02192:Fsd1l	APN	4	53647754	missense	probably benign
IGL02629:Fsd1l	APN	4	53686417	missense	probably damaging	1.00
R0009:Fsd1l	UTSW	4	53687209	missense	probably benign	0.01
R0166:Fsd1l	UTSW	4	53647664	splice site	probably null
R0255:Fsd1l	UTSW	4	53694727	missense	probably damaging	1.00
R0349:Fsd1l	UTSW	4	53679854	missense	probably damaging	0.97
R0409:Fsd1l	UTSW	4	53679932	missense	probably benign	0.00
R1886:Fsd1l	UTSW	4	53696984	splice site	probably null
R1887:Fsd1l	UTSW	4	53696984	splice site	probably null
R2039:Fsd1l	UTSW	4	53679972	missense	probably benign	0.02
R2289:Fsd1l	UTSW	4	53696931	missense	possibly damaging	0.64
R4577:Fsd1l	UTSW	4	53686397	missense	probably damaging	1.00
R5134:Fsd1l	UTSW	4	53647766	missense	probably benign	0.43
R6073:Fsd1l	UTSW	4	53679994	missense	probably damaging	1.00
R6216:Fsd1l	UTSW	4	53694742	missense	probably damaging	1.00
R7184:Fsd1l	UTSW	4	53694054	missense	probably damaging	1.00
R7285:Fsd1l	UTSW	4	53682200	critical splice donor site	probably null
R7423:Fsd1l	UTSW	4	53686406	missense	probably damaging	1.00
R7465:Fsd1l	UTSW	4	53647755	missense	probably benign
R8723:Fsd1l	UTSW	4	53647001	missense	unknown
R8926:Fsd1l	UTSW	4	53686493	missense	probably benign
R9131:Fsd1l	UTSW	4	53694756	missense	probably damaging	0.98
R9220:Fsd1l	UTSW	4	53679799	nonsense	probably null
R9313:Fsd1l	UTSW	4	53694760	missense	probably damaging	1.00
R9313:Fsd1l	UTSW	4	53701093	missense	possibly damaging	0.64
R9380:Fsd1l	UTSW	4	53693991	missense	possibly damaging	0.69
R9448:Fsd1l	UTSW	4	53694826	nonsense	probably null
R9712:Fsd1l	UTSW	4	53679972	missense	probably benign	0.02

Posted On

2013-06-21