Mutagenetix > Incidental Mutations

Incidental Mutation 'R7077:Fsd1'

549304

Institutional Source

Beutler Lab

Gene Symbol

Fsd1

Ensembl Gene

ENSMUSG00000011589

Gene Name

fibronectin type 3 and SPRY domain-containing protein

Synonyms

MMRRC Submission

Accession Numbers

Genbank: NM_183178.2; Ensembl: ENSMUST00000011733

Is this an essential gene?

Possibly non essential (E-score: 0.399) question?

Stock #

R7077 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55986511-55996881 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 55993876 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 245 (R245H)

Ref Sequence

ENSEMBL: ENSMUSP00000011733 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000011733] [ENSMUST00000043785]

Predicted Effect

probably damaging
Transcript: ENSMUST00000011733
AA Change: R245H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000011733
Gene: ENSMUSG00000011589
AA Change: R245H

Domain	Start	End	E-Value	Type
BBC	4	130	7.61e-9	SMART
FN3	165	255	2.96e-4	SMART
Pfam:SPRY	355	473	6.3e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000043785

SMART Domains

Protein: ENSMUSP00000038130
Gene: ENSMUSG00000038781

Domain	Start	End	E-Value	Type
PH	20	120	1.22e-3	SMART
SH2	150	239	2.58e-3	SMART
low complexity region	278	297	N/A	INTRINSIC
low complexity region	302	312	N/A	INTRINSIC
low complexity region	343	365	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (54/55)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a centrosome associated protein that is characterized by an N-terminal coiled-coil region downstream of B-box (BBC) domain, a central fibronectin type III domain, and a C-terminal repeats in splA and RyR (SPRY) domain. The encoded protein associates with a subset of microtubules and may be involved in the stability and organization of microtubules during cytokinesis. [provided by RefSeq, Apr 2009]

Allele List at MGI

All alleles(3) : Targeted, other(2) Gene trapped(1)

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam21	C	T	12: 81,559,119	C623Y	probably damaging	Het
Ago3	T	C	4: 126,371,532	K322R	probably null	Het
Ankrd17	T	C	5: 90,285,864	H682R	possibly damaging	Het
Aoah	A	G	13: 20,910,106	D187G	probably damaging	Het
Arhgap17	T	C	7: 123,280,008	D840G	unknown	Het
AW551984	C	T	9: 39,591,427	V650I	probably benign	Het
BC051142	C	A	17: 34,440,882	T93N	possibly damaging	Het
Bok	T	A	1: 93,689,189	Y86N	probably damaging	Het
Ccdc146	T	A	5: 21,305,274	N580I	possibly damaging	Het
Ccng2	T	C	5: 93,269,340	S72P	possibly damaging	Het
Cfap74	T	G	4: 155,455,677	I977S	unknown	Het
Cobl	T	C	11: 12,253,441	N1087S	probably benign	Het
Cyp21a1	C	A	17: 34,802,359	R346L	probably damaging	Het
Eif4a1	A	C	11: 69,670,664	F52L	probably damaging	Het
Eif4ebp2	A	C	10: 61,433,801	I120S	probably damaging	Het
Enpp2	A	C	15: 54,901,391	D146E	probably benign	Het
Exosc9	T	C	3: 36,553,056	Y30H	probably damaging	Het
Fam117a	G	A	11: 95,377,672	G300S	probably benign	Het
Focad	C	A	4: 88,410,677	A1709E	unknown	Het
Fsip2	T	C	2: 82,983,152	F3272L	probably benign	Het
Gcnt2	G	A	13: 40,860,420	M22I	probably benign	Het
Gjd4	T	C	18: 9,280,928	E50G	probably damaging	Het
Gm10375	G	T	14: 43,602,970	T162K	probably benign	Het
Gm10837	C	G	14: 122,490,730	A6G	unknown	Het
Gm4924	T	C	10: 82,379,223	F952L	unknown	Het
Heatr1	T	C	13: 12,418,164	F1132L	possibly damaging	Het
Hnrnpu	A	G	1: 178,332,191	Y442H	unknown	Het
Hp1bp3	C	A	4: 138,239,618	T408N	probably damaging	Het
Htra3	A	G	5: 35,668,316	V198A	probably damaging	Het
Katnal1	T	C	5: 148,891,737	T300A	probably benign	Het
Lipo5	G	T	19: 33,467,770	P133Q		Het
Lrp1b	A	T	2: 41,770,846	H197Q		Het
Mdc1	C	A	17: 35,845,947	A82D	probably damaging	Het
Mstn	A	T	1: 53,064,249	D248V	probably benign	Het
Myo1d	C	T	11: 80,674,634	E426K	probably damaging	Het
Ola1	G	A	2: 73,141,964	T221I	probably damaging	Het
Olfr1086	T	C	2: 86,676,892	Y147C	possibly damaging	Het
Olfr67	A	G	7: 103,787,386	I297T	probably damaging	Het
Olfr857	T	A	9: 19,713,132	S102T	probably benign	Het
Olfr898	T	A	9: 38,349,970	Y290N	probably damaging	Het
Phldb1	T	C	9: 44,711,904	T618A	possibly damaging	Het
Pkd1	T	G	17: 24,591,119	W3565G	probably damaging	Het
Prl3a1	A	T	13: 27,276,103	N190I	probably benign	Het
Ptk2	G	A	15: 73,221,809	P854S	possibly damaging	Het
Ptpn11	C	T	5: 121,143,570	R484Q	probably benign	Het
Rapgef4	T	C	2: 72,241,476	M900T	probably damaging	Het
Slc1a2	A	T	2: 102,777,510	D501V	probably benign	Het
Smarcd3	G	T	5: 24,594,962	A270D	probably damaging	Het
Srgap2	A	G	1: 131,344,449	M33T		Het
Tle1	G	C	4: 72,158,375	P139A	probably benign	Het
Tmem161b	C	A	13: 84,222,418		probably benign	Het
Zfp658	T	A	7: 43,573,989	S563T	probably benign	Het
Zswim9	G	A	7: 13,259,752	R826C	probably damaging	Het

Other mutations in Fsd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00436:Fsd1	APN	17	55993943	critical splice donor site	probably null
IGL01023:Fsd1	APN	17	55988245	missense	probably damaging	1.00
IGL01382:Fsd1	APN	17	55996733	missense	probably damaging	1.00
IGL01383:Fsd1	APN	17	55996733	missense	probably damaging	1.00
IGL01384:Fsd1	APN	17	55996733	missense	probably damaging	1.00
IGL01386:Fsd1	APN	17	55996733	missense	probably damaging	1.00
IGL01387:Fsd1	APN	17	55996733	missense	probably damaging	1.00
IGL01561:Fsd1	APN	17	55995363	missense	probably benign
IGL02065:Fsd1	APN	17	55996499	missense	probably damaging	1.00
IGL02172:Fsd1	APN	17	55990244	splice site	probably benign
IGL02515:Fsd1	APN	17	55996303	missense	probably null	1.00
IGL02674:Fsd1	APN	17	55996483	missense	probably benign	0.04
IGL03135:Fsd1	APN	17	55990416	splice site	probably null
IGL03380:Fsd1	APN	17	55995456	missense	probably benign	0.00
emboldened	UTSW	17	55990542	critical splice donor site	probably null
1mM(1):Fsd1	UTSW	17	55988199	missense	probably benign	0.26
R0201:Fsd1	UTSW	17	55990522	missense	probably benign	0.00
R0521:Fsd1	UTSW	17	55991245	missense	probably benign
R0718:Fsd1	UTSW	17	55996445	unclassified	probably null
R1077:Fsd1	UTSW	17	55990542	critical splice donor site	probably null
R1519:Fsd1	UTSW	17	55993870	missense	probably benign	0.14
R1696:Fsd1	UTSW	17	55988257	critical splice donor site	probably null
R1867:Fsd1	UTSW	17	55991254	missense	probably benign	0.00
R2173:Fsd1	UTSW	17	55991223	missense	possibly damaging	0.64
R3889:Fsd1	UTSW	17	55993893	missense	probably benign	0.27
R3950:Fsd1	UTSW	17	55995517	critical splice donor site	probably null
R4787:Fsd1	UTSW	17	55996257	missense	possibly damaging	0.51
R4912:Fsd1	UTSW	17	55991241	missense	possibly damaging	0.71
R4936:Fsd1	UTSW	17	55996452	missense	possibly damaging	0.63
R5718:Fsd1	UTSW	17	55990542	critical splice donor site	probably benign
R5749:Fsd1	UTSW	17	55995849	splice site	probably null
R7078:Fsd1	UTSW	17	55993876	missense	probably damaging	1.00
R7091:Fsd1	UTSW	17	55993876	missense	probably damaging	1.00
R7092:Fsd1	UTSW	17	55993876	missense	probably damaging	1.00
R7137:Fsd1	UTSW	17	55993876	missense	probably damaging	1.00
R7173:Fsd1	UTSW	17	55996696	missense	possibly damaging	0.47
R7174:Fsd1	UTSW	17	55991356	missense	probably benign	0.01
R7474:Fsd1	UTSW	17	55988149	missense	possibly damaging	0.93
R7727:Fsd1	UTSW	17	55988150	missense	probably benign	0.00
X0022:Fsd1	UTSW	17	55995464	nonsense	probably null
Z1088:Fsd1	UTSW	17	55991203	missense	probably damaging	0.98
Z1177:Fsd1	UTSW	17	55996083	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- AGAAGGCGAGACTTGGTGTC -3'
(R):5'- AGTTCCCTAGCAGCTAGAGTG -3'

Sequencing Primer
(F):5'- ACCTGCTGCTCTTACAGAGGAC -3'
(R):5'- CTAGCAGCTAGAGTGACCAGGTC -3'

Posted On

2019-05-15