Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00436:Fsd1'

3830

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fsd1

Ensembl Gene

ENSMUSG00000011589

Gene Name

fibronectin type 3 and SPRY domain-containing protein

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.317) question?

Stock #

IGL00436

Quality Score

Status

Chromosome

Chromosomal Location

56293509-56303881 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 56300943 bp (GRCm39)

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

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: 11 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530083I20Rik	T	A	9: 122,725,197 (GRCm39)		probably benign	Het
Bop1	T	C	15: 76,338,728 (GRCm39)	T436A	probably benign	Het
Dnah11	G	T	12: 118,000,194 (GRCm39)	T2277K	possibly damaging	Het
F13b	A	T	1: 139,438,325 (GRCm39)	E313D	probably benign	Het
Gm14326	T	C	2: 177,587,491 (GRCm39)	K502E	probably damaging	Het
Kmt2c	T	C	5: 25,486,259 (GRCm39)	N1385D	probably damaging	Het
Pdc	T	C	1: 150,209,006 (GRCm39)	V163A	probably damaging	Het
Rapgef6	T	C	11: 54,570,091 (GRCm39)	S873P	probably benign	Het
Spsb4	T	A	9: 96,826,646 (GRCm39)	Y269F	probably benign	Het
Sult6b2	T	G	6: 142,743,563 (GRCm39)		probably benign	Het
Tfpi2	A	G	6: 3,965,407 (GRCm39)	V17A	probably benign	Het

Other mutations in Fsd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01023:Fsd1	APN	17	56,295,245 (GRCm39)	missense	probably damaging	1.00
IGL01382:Fsd1	APN	17	56,303,733 (GRCm39)	missense	probably damaging	1.00
IGL01383:Fsd1	APN	17	56,303,733 (GRCm39)	missense	probably damaging	1.00
IGL01384:Fsd1	APN	17	56,303,733 (GRCm39)	missense	probably damaging	1.00
IGL01386:Fsd1	APN	17	56,303,733 (GRCm39)	missense	probably damaging	1.00
IGL01387:Fsd1	APN	17	56,303,733 (GRCm39)	missense	probably damaging	1.00
IGL01561:Fsd1	APN	17	56,302,363 (GRCm39)	missense	probably benign
IGL02065:Fsd1	APN	17	56,303,499 (GRCm39)	missense	probably damaging	1.00
IGL02172:Fsd1	APN	17	56,297,244 (GRCm39)	splice site	probably benign
IGL02515:Fsd1	APN	17	56,303,303 (GRCm39)	missense	probably null	1.00
IGL02674:Fsd1	APN	17	56,303,483 (GRCm39)	missense	probably benign	0.04
IGL03135:Fsd1	APN	17	56,297,416 (GRCm39)	splice site	probably null
IGL03380:Fsd1	APN	17	56,302,456 (GRCm39)	missense	probably benign	0.00
Emboldened	UTSW	17	56,297,542 (GRCm39)	critical splice donor site	probably null
1mM(1):Fsd1	UTSW	17	56,295,199 (GRCm39)	missense	probably benign	0.26
R0201:Fsd1	UTSW	17	56,297,522 (GRCm39)	missense	probably benign	0.00
R0521:Fsd1	UTSW	17	56,298,245 (GRCm39)	missense	probably benign
R0718:Fsd1	UTSW	17	56,303,445 (GRCm39)	splice site	probably null
R1077:Fsd1	UTSW	17	56,297,542 (GRCm39)	critical splice donor site	probably null
R1519:Fsd1	UTSW	17	56,300,870 (GRCm39)	missense	probably benign	0.14
R1696:Fsd1	UTSW	17	56,295,257 (GRCm39)	critical splice donor site	probably null
R1867:Fsd1	UTSW	17	56,298,254 (GRCm39)	missense	probably benign	0.00
R2173:Fsd1	UTSW	17	56,298,223 (GRCm39)	missense	possibly damaging	0.64
R3889:Fsd1	UTSW	17	56,300,893 (GRCm39)	missense	probably benign	0.27
R3950:Fsd1	UTSW	17	56,302,517 (GRCm39)	critical splice donor site	probably null
R4787:Fsd1	UTSW	17	56,303,257 (GRCm39)	missense	possibly damaging	0.51
R4912:Fsd1	UTSW	17	56,298,241 (GRCm39)	missense	possibly damaging	0.71
R4936:Fsd1	UTSW	17	56,303,452 (GRCm39)	missense	possibly damaging	0.63
R5718:Fsd1	UTSW	17	56,297,542 (GRCm39)	critical splice donor site	probably benign
R5749:Fsd1	UTSW	17	56,302,849 (GRCm39)	splice site	probably null
R7077:Fsd1	UTSW	17	56,300,876 (GRCm39)	missense	probably damaging	1.00
R7078:Fsd1	UTSW	17	56,300,876 (GRCm39)	missense	probably damaging	1.00
R7091:Fsd1	UTSW	17	56,300,876 (GRCm39)	missense	probably damaging	1.00
R7092:Fsd1	UTSW	17	56,300,876 (GRCm39)	missense	probably damaging	1.00
R7137:Fsd1	UTSW	17	56,300,876 (GRCm39)	missense	probably damaging	1.00
R7173:Fsd1	UTSW	17	56,303,696 (GRCm39)	missense	possibly damaging	0.47
R7174:Fsd1	UTSW	17	56,298,356 (GRCm39)	missense	probably benign	0.01
R7474:Fsd1	UTSW	17	56,295,149 (GRCm39)	missense	possibly damaging	0.93
R7727:Fsd1	UTSW	17	56,295,150 (GRCm39)	missense	probably benign	0.00
R8113:Fsd1	UTSW	17	56,302,881 (GRCm39)	missense	probably benign
R9477:Fsd1	UTSW	17	56,295,720 (GRCm39)	missense	possibly damaging	0.63
X0022:Fsd1	UTSW	17	56,302,464 (GRCm39)	nonsense	probably null
Z1088:Fsd1	UTSW	17	56,298,203 (GRCm39)	missense	probably damaging	0.98
Z1177:Fsd1	UTSW	17	56,303,083 (GRCm39)	missense	probably benign	0.17
Z1187:Fsd1	UTSW	17	56,300,920 (GRCm39)	missense	probably benign	0.09

Posted On

2012-04-20