Mutagenetix > Incidental Mutation

Incidental Mutation 'R2173:Fsd1'

237655

Institutional Source

Beutler Lab

Gene Symbol

Fsd1

Ensembl Gene

ENSMUSG00000011589

Gene Name

fibronectin type 3 and SPRY domain-containing protein

Synonyms

MMRRC Submission

040175-MU

Accession Numbers

Essential gene?

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

Stock #

R2173 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56293509-56303881 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56298223 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 183 (T183A)

Ref Sequence

ENSEMBL: ENSMUSP00000011733 (fasta)

Gene Model

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

AlphaFold

Q7TPM6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000011733
AA Change: T183A

PolyPhen 2 Score 0.643 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000011733
Gene: ENSMUSG00000011589
AA Change: T183A

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

Meta Mutation Damage Score

0.1963

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

97% (66/68)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk1	T	A	3: 127,477,239 (GRCm39)	H273L	probably damaging	Het
Alpk3	A	G	7: 80,726,648 (GRCm39)	Y111C	probably damaging	Het
Anapc2	T	G	2: 25,163,288 (GRCm39)	V175G	probably benign	Het
Arhgap30	T	C	1: 171,235,335 (GRCm39)	S570P	probably damaging	Het
AU040320	T	C	4: 126,686,069 (GRCm39)	L215P	probably benign	Het
Ccdc59	A	T	10: 105,677,388 (GRCm39)	K9M	possibly damaging	Het
Ccdc65	A	G	15: 98,618,914 (GRCm39)	N298D	probably benign	Het
Cfap70	T	A	14: 20,458,630 (GRCm39)	N727Y	probably benign	Het
Clcn7	A	G	17: 25,364,583 (GRCm39)	H63R	probably benign	Het
Corin	A	T	5: 72,661,422 (GRCm39)	C24S	probably benign	Het
Cyp1a2	A	G	9: 57,584,798 (GRCm39)	W419R	probably damaging	Het
Dlgap4	C	A	2: 156,604,732 (GRCm39)	A256D	probably damaging	Het
Eif4enif1	A	G	11: 3,192,367 (GRCm39)		probably null	Het
Eri2	A	G	7: 119,385,766 (GRCm39)	V245A	possibly damaging	Het
Erich6b	T	C	14: 75,896,332 (GRCm39)	F73L	probably benign	Het
Fam110a	A	G	2: 151,812,429 (GRCm39)	C114R	probably damaging	Het
Fam149a	T	C	8: 45,806,991 (GRCm39)	D288G	probably damaging	Het
Fam171a1	T	A	2: 3,226,656 (GRCm39)	Y596*	probably null	Het
Fut10	T	A	8: 31,726,159 (GRCm39)	Y305N	probably damaging	Het
Ganab	A	T	19: 8,879,624 (GRCm39)		probably benign	Het
Gm9922	G	T	14: 101,967,012 (GRCm39)		probably benign	Het
Gp9	A	G	6: 87,756,035 (GRCm39)	T17A	probably benign	Het
Gxylt2	T	C	6: 100,775,115 (GRCm39)	Y345H	probably damaging	Het
Herc2	A	G	7: 55,835,699 (GRCm39)	H3269R	probably benign	Het
Hpx	A	T	7: 105,241,290 (GRCm39)	S374T	probably benign	Het
Hspa5	T	C	2: 34,664,674 (GRCm39)	V376A	probably damaging	Het
Hyi	T	C	4: 118,219,381 (GRCm39)		probably benign	Het
Impdh2	G	A	9: 108,442,593 (GRCm39)		probably null	Het
Kremen2	A	C	17: 23,961,770 (GRCm39)	W246G	probably damaging	Het
Krt87	A	G	15: 101,385,818 (GRCm39)	V259A	probably damaging	Het
L3mbtl4	A	T	17: 68,894,188 (GRCm39)	H398L	probably damaging	Het
Lama5	C	A	2: 179,838,035 (GRCm39)	V894L	probably benign	Het
Maml2	A	G	9: 13,532,912 (GRCm39)		probably benign	Het
Nup153	A	T	13: 46,855,076 (GRCm39)		probably benign	Het
Or10g6	T	G	9: 39,934,550 (GRCm39)	I287S	probably damaging	Het
Or2y15	G	T	11: 49,350,967 (GRCm39)	V154L	probably benign	Het
Or5k14	A	G	16: 58,692,982 (GRCm39)	F177S	probably damaging	Het
Or8b3b	T	C	9: 38,584,240 (GRCm39)	I180V	probably benign	Het
Or9r7	G	A	10: 129,962,372 (GRCm39)	P185S	probably benign	Het
Otof	C	T	5: 30,543,718 (GRCm39)	R582H	probably damaging	Het
Otud4	T	C	8: 80,395,093 (GRCm39)	S543P	probably damaging	Het
Pde6a	A	G	18: 61,387,453 (GRCm39)	D448G	probably damaging	Het
Phgdh	A	G	3: 98,222,427 (GRCm39)	V388A	probably benign	Het
Plin3	G	T	17: 56,586,891 (GRCm39)	D385E	possibly damaging	Het
Polg	G	T	7: 79,105,341 (GRCm39)	D734E	probably damaging	Het
Pomt1	T	C	2: 32,140,912 (GRCm39)	Y515H	probably damaging	Het
Prr35	A	C	17: 26,167,461 (GRCm39)	H25Q	probably damaging	Het
Pwwp2a	G	A	11: 43,573,313 (GRCm39)	A132T	probably benign	Het
Rbm6	A	T	9: 107,729,390 (GRCm39)	F419L	possibly damaging	Het
Rfx5	A	G	3: 94,864,027 (GRCm39)		probably null	Het
Rnf135	G	A	11: 80,080,066 (GRCm39)	S119N	probably benign	Het
Scfd1	T	A	12: 51,433,862 (GRCm39)	D51E	probably benign	Het
Smox	A	T	2: 131,353,944 (GRCm39)	E5D	possibly damaging	Het
Srpk2	T	C	5: 23,723,613 (GRCm39)		probably null	Het
Syne2	T	A	12: 76,147,763 (GRCm39)		probably benign	Het
Tcf20	A	G	15: 82,738,893 (GRCm39)	S853P	possibly damaging	Het
Tmem131l	A	G	3: 83,833,452 (GRCm39)	F804L	probably damaging	Het
Ttll8	A	G	15: 88,798,800 (GRCm39)	L645P	probably damaging	Het
Ubr3	T	A	2: 69,727,743 (GRCm39)	H35Q	probably benign	Het
Uck1	GCCAACACC	GCC	2: 32,146,088 (GRCm39)		probably benign	Het
Vmn2r70	A	T	7: 85,214,290 (GRCm39)	H287Q	probably benign	Het
Vps26a	A	T	10: 62,304,171 (GRCm39)	I150N	probably damaging	Het
Zfp605	G	A	5: 110,275,323 (GRCm39)	R147H	probably benign	Het
Zfyve16	A	G	13: 92,631,596 (GRCm39)	M1333T	probably damaging	Het

Other mutations in Fsd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00436:Fsd1	APN	17	56,300,943 (GRCm39)	critical splice donor site	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- GCCTAGGTGAACTCAAGAGGTC -3'
(R):5'- GTGTGTTCACTACATGCCTGG -3'

Sequencing Primer
(F):5'- TGAACTCAAGAGGTCCCCGC -3'
(R):5'- ACTACATGCCTGGCCATG -3'

Posted On

2014-10-02