Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02061:Fsd2'

185403

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fsd2

Ensembl Gene

ENSMUSG00000038663

Gene Name

fibronectin type III and SPRY domain containing 2

Synonyms

Spryd1, 9830160G03Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02061

Quality Score

Status

Chromosome

Chromosomal Location

81533308-81566944 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 81540424 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 537 (K537*)

Ref Sequence

ENSEMBL: ENSMUSP00000047775 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042318]

AlphaFold

Q8BZ52

Predicted Effect

probably null
Transcript: ENSMUST00000042318
AA Change: K537*

SMART Domains

Protein: ENSMUSP00000047775
Gene: ENSMUSG00000038663
AA Change: K537*

Domain	Start	End	E-Value	Type
low complexity region	102	121	N/A	INTRINSIC
coiled coil region	204	231	N/A	INTRINSIC
FN3	315	400	7.34e-9	SMART
FN3	412	494	2e-1	SMART
Pfam:PRY	509	558	8.6e-9	PFAM
Pfam:SPRY	564	683	2.8e-12	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the FN3/SPRY family of proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arl15	T	A	13: 113,794,657	D3E	probably benign	Het
Atp4a	A	G	7: 30,715,029	Y159C	probably damaging	Het
Card10	A	G	15: 78,778,215	F861S	probably damaging	Het
Ccdc85c	A	G	12: 108,221,743	V279A	probably damaging	Het
Cndp1	G	A	18: 84,634,626	R136W	probably damaging	Het
Eif2b3	A	G	4: 117,028,411	E50G	possibly damaging	Het
Eva1c	C	T	16: 90,866,275	Q67*	probably null	Het
Exoc1	A	G	5: 76,542,120	E169G	probably damaging	Het
Fam189b	C	T	3: 89,188,596	R545*	probably null	Het
Gbf1	T	G	19: 46,279,258	S1236A	possibly damaging	Het
Gpt	C	A	15: 76,699,417		probably benign	Het
Gsap	A	G	5: 21,281,611		probably benign	Het
Hdac6	A	C	X: 7,943,639		probably null	Het
Ivns1abp	T	A	1: 151,351,573	L44Q	probably damaging	Het
Kcnt1	T	A	2: 25,900,482		probably null	Het
Kdm2b	A	G	5: 122,883,341	I58T	probably damaging	Het
Mrpl23	C	T	7: 142,540,582	P76S	probably benign	Het
Nbea	A	G	3: 55,717,887	I2261T	possibly damaging	Het
Oasl1	G	A	5: 114,923,592	V61M	probably damaging	Het
Olfr1288	T	A	2: 111,479,269	F162I	possibly damaging	Het
Pabpc2	A	G	18: 39,774,993	Q437R	probably benign	Het
Ppp1r26	T	A	2: 28,450,627	C90S	possibly damaging	Het
Ppp3ca	A	G	3: 136,797,863	T66A	probably benign	Het
Prss55	A	G	14: 64,075,743	Y231H	possibly damaging	Het
Psmb10	T	C	8: 105,937,711	T38A	probably damaging	Het
Rfx5	A	G	3: 94,958,481	T364A	probably benign	Het
Scgb2b26	T	C	7: 33,943,185	N107S	probably benign	Het
Seh1l	A	G	18: 67,787,258		probably benign	Het
Sod1	T	A	16: 90,225,238	H111Q	probably benign	Het
Thbs2	A	T	17: 14,679,914	D592E	probably benign	Het
Tmem67	G	A	4: 12,053,526	A740V	probably damaging	Het
Tra2a	A	G	6: 49,249,098	V136A	possibly damaging	Het
Ttc37	T	A	13: 76,129,541		probably null	Het
Utp18	T	C	11: 93,882,141	D158G	probably benign	Het
Zfp524	A	G	7: 5,017,872	E133G	probably damaging	Het

Other mutations in Fsd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01746:Fsd2	APN	7	81553007	missense	probably benign	0.15
IGL02012:Fsd2	APN	7	81549914	missense	probably benign	0.00
IGL02971:Fsd2	APN	7	81548923	nonsense	probably null
IGL03207:Fsd2	APN	7	81559170	missense	probably benign	0.28
IGL03344:Fsd2	APN	7	81559909	missense	probably benign	0.00
R0142:Fsd2	UTSW	7	81559935	missense	probably damaging	0.98
R0540:Fsd2	UTSW	7	81545017	missense	probably damaging	1.00
R0607:Fsd2	UTSW	7	81545017	missense	probably damaging	1.00
R0846:Fsd2	UTSW	7	81540397	missense	probably benign	0.00
R0863:Fsd2	UTSW	7	81542165	missense	possibly damaging	0.47
R1172:Fsd2	UTSW	7	81559770	missense	probably benign
R1173:Fsd2	UTSW	7	81559770	missense	probably benign
R1175:Fsd2	UTSW	7	81559770	missense	probably benign
R1438:Fsd2	UTSW	7	81548873	missense	probably benign	0.13
R1456:Fsd2	UTSW	7	81559591	nonsense	probably null
R1717:Fsd2	UTSW	7	81535109	missense	probably benign	0.23
R1987:Fsd2	UTSW	7	81559659	missense	possibly damaging	0.89
R2698:Fsd2	UTSW	7	81545860	missense	probably damaging	0.99
R4108:Fsd2	UTSW	7	81544967	missense	probably benign	0.01
R4165:Fsd2	UTSW	7	81545860	missense	probably damaging	0.99
R4335:Fsd2	UTSW	7	81542065	missense	probably damaging	0.99
R4570:Fsd2	UTSW	7	81559770	missense	probably benign
R4707:Fsd2	UTSW	7	81559680	missense	probably damaging	1.00
R4741:Fsd2	UTSW	7	81551895	critical splice donor site	probably null
R4863:Fsd2	UTSW	7	81552964	missense	probably null	0.91
R5281:Fsd2	UTSW	7	81552985	missense	probably benign	0.15
R5898:Fsd2	UTSW	7	81537227	missense	probably damaging	1.00
R6812:Fsd2	UTSW	7	81535089	missense	probably benign	0.00
R7367:Fsd2	UTSW	7	81535180	missense	probably damaging	1.00
R7976:Fsd2	UTSW	7	81559881	missense	probably benign	0.00
R8717:Fsd2	UTSW	7	81540342	missense	probably benign	0.30
R8928:Fsd2	UTSW	7	81559606	missense	probably benign
R8987:Fsd2	UTSW	7	81560018	missense	probably benign	0.39
Z1176:Fsd2	UTSW	7	81553192	missense	probably damaging	1.00
Z1177:Fsd2	UTSW	7	81559752	missense	probably damaging	0.96

Posted On

2014-05-07