Mutagenetix > Incidental Mutation

Incidental Mutation 'R7091:Fsd1'

550239

Institutional Source

Beutler Lab

Gene Symbol

Fsd1

Ensembl Gene

ENSMUSG00000011589

Gene Name

fibronectin type 3 and SPRY domain-containing protein

Synonyms

MMRRC Submission

045185-MU

Accession Numbers

Genbank: NM_183178.2; Ensembl: ENSMUST00000011733

Essential gene?

Possibly non essential (E-score: 0.465) question?

Stock #

R7091 (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 (GRCm38)

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]

AlphaFold

Q7TPM6

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

Meta Mutation Damage Score

0.8096

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (56/57)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130019O22Rik	C	A	7: 127,384,362	A523S	possibly damaging	Het
Abhd18	A	C	3: 40,916,738	I111L	probably damaging	Het
Ank1	A	G	8: 23,058,663	D11G	probably benign	Het
Ank2	G	T	3: 127,023,351	Q472K	probably damaging	Het
Apbb2	A	T	5: 66,313,334	L520H	probably damaging	Het
Baat	T	C	4: 49,499,692	K205E	probably benign	Het
Brca1	T	A	11: 101,526,427	M294L	probably benign	Het
Capn1	A	G	19: 5,991,556	M641T	possibly damaging	Het
Cluap1	T	A	16: 3,940,806	D377E	probably benign	Het
Col6a2	C	T	10: 76,615,091	V39I	unknown	Het
Crybg3	T	A	16: 59,557,168	D1241V	possibly damaging	Het
Dnah10	A	G	5: 124,816,142	K3380R	probably benign	Het
Eml5	T	C	12: 98,802,474	I1400M	probably benign	Het
Fancd2	A	G	6: 113,545,101	D219G	probably damaging	Het
Fras1	A	G	5: 96,708,676	S1973G	probably benign	Het
G3bp1	T	A	11: 55,496,221	H271Q	possibly damaging	Het
Glce	A	G	9: 62,060,588	V427A	probably damaging	Het
Gm4778	T	C	3: 94,266,638	F314L	probably damaging	Het
Gm5141	T	C	13: 62,773,964	T464A	possibly damaging	Het
Gulp1	T	A	1: 44,766,134	F128I	probably damaging	Het
H2-Bl	T	C	17: 36,083,941	E30G	possibly damaging	Het
Hcrtr1	A	C	4: 130,130,914	L393W	probably damaging	Het
Heg1	T	C	16: 33,726,720	S650P	probably benign	Het
Hspa4l	T	A	3: 40,781,592	N569K	probably benign	Het
Ifi206	A	G	1: 173,473,875	F746L	unknown	Het
Ivl	T	C	3: 92,572,242	D172G	possibly damaging	Het
Lrp5	A	T	19: 3,630,184	D433E	probably damaging	Het
Mgam	T	C	6: 40,768,276	S1826P	possibly damaging	Het
Ms4a18	A	T	19: 11,008,728	L206M	probably damaging	Het
Msln	A	T	17: 25,750,080	C444S	probably damaging	Het
Mta1	A	G	12: 113,136,402	D644G	probably damaging	Het
Muc5ac	G	C	7: 141,809,687		probably benign	Het
Naa15	T	C	3: 51,458,756		probably null	Het
Nadk	A	G	4: 155,587,758	H302R	probably benign	Het
Neb	T	A	2: 52,256,112	N15I		Het
Nup153	A	T	13: 46,683,928	S1273T	probably benign	Het
Ofcc1	A	G	13: 40,072,767	I763T	probably damaging	Het
Olfr142	T	C	2: 90,252,463	Y175C	probably damaging	Het
Oxsr1	T	C	9: 119,284,661	I107V	probably benign	Het
Prmt5	A	G	14: 54,511,342		probably null	Het
Ptk2	G	A	15: 73,221,809	P854S	possibly damaging	Het
Ranbp6	A	G	19: 29,812,716	S79P	probably damaging	Het
Reln	T	C	5: 21,899,029	I3315V	probably null	Het
Rnf223	T	C	4: 156,132,699	V177A	probably benign	Het
Slc20a1	C	T	2: 129,208,272	T450M	possibly damaging	Het
Smg5	C	T	3: 88,351,347	P542S	probably benign	Het
Sorl1	T	A	9: 42,002,634	Q1333L	probably benign	Het
Spag5	T	A	11: 78,313,191		probably null	Het
Tdp2	T	A	13: 24,838,224	F209I	probably damaging	Het
Tgm4	C	A	9: 123,040,460	L35M	probably damaging	Het
Tma7	A	G	9: 109,082,512		probably benign	Het
Tmprss4	A	T	9: 45,184,273	V91D	probably damaging	Het
Tnfsf4	T	A	1: 161,395,697	M39K	probably benign	Het
Ttn	T	A	2: 76,713,568	T33025S	probably benign	Het
Tut1	A	G	19: 8,965,811	H754R	probably benign	Het
Vmn2r27	T	G	6: 124,223,945	Q351P	possibly damaging	Het
Wee2	G	T	6: 40,462,002	G353V	probably benign	Het
Zfp879	T	A	11: 50,833,395	H278L	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	splice site	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
R7077:Fsd1	UTSW	17	55993876	missense	probably damaging	1.00
R7078: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
R8113:Fsd1	UTSW	17	55995881	missense	probably benign
R9477:Fsd1	UTSW	17	55988720	missense	possibly damaging	0.63
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
Z1187:Fsd1	UTSW	17	55993920	missense	probably benign	0.09

Predicted Primers

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

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

Posted On

2019-05-15