Mutagenetix > Incidental Mutations

Incidental Mutation 'R5749:Fsd1'

462717

Institutional Source

Beutler Lab

Gene Symbol

Fsd1

Ensembl Gene

ENSMUSG00000011589

Gene Name

fibronectin type 3 and SPRY domain-containing protein

Synonyms

MMRRC Submission

043200-MU

Accession Numbers

Genbank: NM_183178.2; Ensembl: ENSMUST00000011733

Is this an essential gene?

Possibly non essential (E-score: 0.351) question?

Stock #

R5749 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55986511-55996881 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 55995849 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000011733 (fasta)

Gene Model

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

AlphaFold

Q7TPM6

Predicted Effect

probably null
Transcript: ENSMUST00000011733

SMART Domains

Protein: ENSMUSP00000011733
Gene: ENSMUSG00000011589

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: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl6	G	A	11: 54,324,055		probably null	Het
Ankrd12	T	C	17: 65,986,096	S781G	probably benign	Het
Bicc1	A	G	10: 70,946,969	S523P	probably benign	Het
Ccdc163	T	A	4: 116,714,112	C44*	probably null	Het
Ccdc83	T	C	7: 90,223,948	T400A	probably damaging	Het
Cobl	A	G	11: 12,266,965	S426P	possibly damaging	Het
Cyhr1	A	C	15: 76,658,644		probably null	Het
Cyp2b19	T	C	7: 26,763,419	I242T	possibly damaging	Het
Efnb2	A	C	8: 8,639,347	C92G	probably damaging	Het
Fam90a1a	T	A	8: 21,963,041	S137R	possibly damaging	Het
Fbxo17	G	A	7: 28,737,472	R284H	probably damaging	Het
Fem1b	A	G	9: 62,797,006	L324P	probably damaging	Het
Gtpbp4	A	G	13: 8,995,947		probably null	Het
Ifi209	A	C	1: 173,637,327	I8L	probably damaging	Het
Itga8	T	C	2: 12,262,078	E182G	probably damaging	Het
Itsn1	T	A	16: 91,906,855	L87H	probably damaging	Het
Klk1b16	T	C	7: 44,140,786	I160T	probably benign	Het
Lbp	T	A	2: 158,319,753	V52D	probably damaging	Het
Med23	T	C	10: 24,888,449	V318A	possibly damaging	Het
Myo16	C	T	8: 10,413,245	S604L	probably benign	Het
Olfr1113	C	T	2: 87,212,943	T17I	probably benign	Het
Olfr1448	A	G	19: 12,920,225	V28A	probably benign	Het
Olfr1510	T	A	14: 52,410,504	M123L	probably damaging	Het
Olfr768	A	T	10: 129,093,097	N292K	probably damaging	Het
Pcdh8	T	C	14: 79,770,085	D346G	probably damaging	Het
Ppara	A	T	15: 85,789,028	D140V	probably benign	Het
Prlr	T	A	15: 10,328,718	D426E	probably benign	Het
Prss36	T	A	7: 127,933,642	I192F	probably damaging	Het
Psg25	T	C	7: 18,524,851	E300G	probably damaging	Het
Pxylp1	A	G	9: 96,856,371	F26L	possibly damaging	Het
Rapgef4	A	T	2: 72,242,757	T796S	probably damaging	Het
Stard9	A	G	2: 120,703,786	H3508R	probably damaging	Het
Tep1	T	A	14: 50,844,072	D1282V	possibly damaging	Het
Tgfbr3l	A	G	8: 4,249,310	E59G	probably damaging	Het
Tnik	T	C	3: 28,594,092	M431T	probably benign	Het
Tns3	A	T	11: 8,451,177	H1040Q	probably benign	Het
Usp10	G	A	8: 119,941,133	E58K	probably damaging	Het
Vmn2r23	A	G	6: 123,733,273	T512A	probably benign	Het
Vmn2r52	C	T	7: 10,159,032	D727N	probably damaging	Het
Vmn2r66	T	A	7: 85,006,771	K346*	probably null	Het
Vmn2r93	T	A	17: 18,298,284	F2I	probably benign	Het
Zfp697	T	C	3: 98,425,464	S69P	probably benign	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
R7077:Fsd1	UTSW	17	55993876	missense	probably damaging	1.00
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
R8113:Fsd1	UTSW	17	55995881	missense	probably benign
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'- CAAGGAGATTTTGAGCAGGGTTTAG -3'
(R):5'- AATCAGTGTGTCCCCTGCAG -3'

Sequencing Primer
(F):5'- CAGGGTTTAGATGTTTGATGGTTGAC -3'
(R):5'- TGCAGCCCGGAGACAGG -3'

Posted On

2017-03-01