Mutagenetix > Incidental Mutation

Incidental Mutation 'R0718:Fsd1'

262047

Institutional Source

Beutler Lab

Gene Symbol

Fsd1

Ensembl Gene

ENSMUSG00000011589

Gene Name

fibronectin type 3 and SPRY domain-containing protein

Synonyms

MMRRC Submission

038900-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.306) question?

Stock #

R0718 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

56293509-56303881 bp(+) (GRCm39)

Type of Mutation

splice site (636 bp from exon)

DNA Base Change (assembly)

G to T at 56303445 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000038130 (fasta)

Gene Model

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

AlphaFold

Q7TPM6

Predicted Effect

probably benign
Transcript: ENSMUST00000011733
AA Change: R439L

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000011733
Gene: ENSMUSG00000011589
AA Change: R439L

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 null
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

0.9106

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.9%

Validation Efficiency

100% (96/96)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl4	A	T	3: 95,586,918 (GRCm39)	Y811N	possibly damaging	Het
Adrm1	T	C	2: 179,816,940 (GRCm39)		probably benign	Het
Alms1	T	A	6: 85,598,803 (GRCm39)	S1210T	probably benign	Het
Ampd3	C	T	7: 110,377,015 (GRCm39)	P11L	probably damaging	Het
Arhgap5	A	G	12: 52,563,290 (GRCm39)	E87G	possibly damaging	Het
Armc5	C	T	7: 127,839,242 (GRCm39)		probably benign	Het
Asic2	C	G	11: 80,862,282 (GRCm39)		probably benign	Het
Asph	A	G	4: 9,514,683 (GRCm39)		probably benign	Het
Bicd2	T	A	13: 49,531,351 (GRCm39)		probably null	Het
Brip1	A	G	11: 86,034,131 (GRCm39)	L530P	possibly damaging	Het
Bsn	G	T	9: 107,988,559 (GRCm39)		probably benign	Het
Btnl4	T	A	17: 34,688,608 (GRCm39)	H390L	probably benign	Het
Ccdc70	A	C	8: 22,463,324 (GRCm39)	K38T	probably damaging	Het
Ccni	G	A	5: 93,350,175 (GRCm39)	P35S	probably benign	Het
Cdh17	A	G	4: 11,810,451 (GRCm39)	D714G	possibly damaging	Het
Cenpf	A	G	1: 189,386,181 (GRCm39)	L2033P	probably damaging	Het
Cfap69	A	T	5: 5,671,924 (GRCm39)	M328K	probably damaging	Het
Cmah	T	G	13: 24,601,193 (GRCm39)		probably null	Het
Cog6	T	C	3: 52,918,050 (GRCm39)	T163A	probably benign	Het
Cyp2j8	G	A	4: 96,389,433 (GRCm39)	S130F	probably benign	Het
Dgki	A	G	6: 36,989,831 (GRCm39)	V636A	probably damaging	Het
Dmkn	T	A	7: 30,464,211 (GRCm39)		probably benign	Het
Dnah6	A	G	6: 73,012,276 (GRCm39)	I3679T	possibly damaging	Het
Dsp	A	T	13: 38,380,740 (GRCm39)	Y2495F	possibly damaging	Het
Exosc4	C	T	15: 76,213,689 (GRCm39)	A171V	probably benign	Het
Fbxw24	A	G	9: 109,452,577 (GRCm39)		probably benign	Het
Flvcr1	A	T	1: 190,757,779 (GRCm39)	L171Q	probably damaging	Het
Gm7732	A	G	17: 21,350,106 (GRCm39)		noncoding transcript	Het
H2-K2	A	C	17: 34,194,597 (GRCm39)		noncoding transcript	Het
Hgf	A	G	5: 16,798,857 (GRCm39)	N295S	probably damaging	Het
Ift88	T	A	14: 57,754,870 (GRCm39)	D811E	probably benign	Het
Igsf9b	T	A	9: 27,234,657 (GRCm39)		probably null	Het
Immt	T	A	6: 71,840,156 (GRCm39)	V311E	probably damaging	Het
Ipo11	T	A	13: 107,056,119 (GRCm39)	N51I	possibly damaging	Het
Isy1	T	C	6: 87,796,158 (GRCm39)	K260E	probably damaging	Het
Jchain	T	G	5: 88,674,061 (GRCm39)	I28L	probably benign	Het
Jmjd1c	T	A	10: 67,054,725 (GRCm39)		probably null	Het
Kif13b	T	C	14: 64,989,111 (GRCm39)		probably benign	Het
Klhdc7b	T	C	15: 89,272,372 (GRCm39)	Y427H	possibly damaging	Het
Klhl8	T	C	5: 104,024,159 (GRCm39)		probably benign	Het
Lrp2	C	T	2: 69,341,292 (GRCm39)	D963N	probably damaging	Het
Ltbp3	G	T	19: 5,796,776 (GRCm39)		probably benign	Het
Ltf	C	A	9: 110,869,447 (GRCm39)	Q41K	probably benign	Het
Med4	T	A	14: 73,754,097 (GRCm39)	I148N	probably damaging	Het
Mlh3	T	G	12: 85,294,471 (GRCm39)	S1242R	possibly damaging	Het
Mllt6	T	C	11: 97,567,185 (GRCm39)		probably benign	Het
Mpdz	A	G	4: 81,210,710 (GRCm39)	I1712T	possibly damaging	Het
Mrgprb4	T	A	7: 47,848,301 (GRCm39)	H209L	probably benign	Het
Nkapl	A	T	13: 21,652,610 (GRCm39)	M1K	probably null	Het
Nmur2	T	A	11: 55,920,324 (GRCm39)		probably benign	Het
Nsun2	T	A	13: 69,691,816 (GRCm39)		probably benign	Het
Or10ag60	A	G	2: 87,438,271 (GRCm39)	I180V	probably benign	Het
Or8k35	G	A	2: 86,424,425 (GRCm39)	T249I	probably benign	Het
Ovgp1	T	C	3: 105,882,146 (GRCm39)		probably benign	Het
Pcdh8	A	G	14: 80,008,131 (GRCm39)	V144A	possibly damaging	Het
Pcnx3	G	A	19: 5,727,756 (GRCm39)		probably benign	Het
Pla2r1	C	A	2: 60,309,874 (GRCm39)	V570L	possibly damaging	Het
Plxnd1	C	A	6: 115,943,599 (GRCm39)	E1202D	possibly damaging	Het
Ppp1r37	T	C	7: 19,266,179 (GRCm39)	E529G	probably benign	Het
Prdm15	A	G	16: 97,613,833 (GRCm39)	F496L	possibly damaging	Het
Prlhr	G	T	19: 60,456,497 (GRCm39)	S23*	probably null	Het
Prlhr	A	T	19: 60,456,443 (GRCm39)	V41D	probably benign	Het
Prpf4	C	T	4: 62,332,777 (GRCm39)		probably benign	Het
Psg26	C	T	7: 18,209,160 (GRCm39)	R416H	probably benign	Het
Psg26	T	C	7: 18,212,212 (GRCm39)	H381R	probably benign	Het
Ralgds	T	G	2: 28,439,128 (GRCm39)	M717R	probably benign	Het
Rbms1	T	C	2: 60,672,756 (GRCm39)	N44D	probably damaging	Het
Rpa1	T	C	11: 75,209,227 (GRCm39)		probably benign	Het
Rprd2	T	C	3: 95,673,699 (GRCm39)	N568S	probably benign	Het
Rptor	A	G	11: 119,763,202 (GRCm39)	M929V	probably benign	Het
Rspo1	T	A	4: 124,900,942 (GRCm39)	C97S	possibly damaging	Het
Scin	C	T	12: 40,129,606 (GRCm39)	G396S	probably damaging	Het
Scn9a	T	C	2: 66,377,456 (GRCm39)	N409D	probably damaging	Het
Sf3b1	A	G	1: 55,058,544 (GRCm39)	I15T	probably damaging	Het
Sh3bp2	T	C	5: 34,712,839 (GRCm39)	V149A	probably damaging	Het
Slc39a12	T	A	2: 14,412,237 (GRCm39)		probably benign	Het
Sp9	G	T	2: 73,104,171 (GRCm39)	A242S	possibly damaging	Het
Srr	A	G	11: 74,801,891 (GRCm39)	V126A	possibly damaging	Het
Tatdn3	G	T	1: 190,785,046 (GRCm39)		probably benign	Het
Tex14	G	A	11: 87,390,439 (GRCm39)	V379I	probably benign	Het
Tmed6	T	C	8: 107,788,356 (GRCm39)	N197S	probably damaging	Het
Ttbk2	A	T	2: 120,575,641 (GRCm39)	I1043N	probably benign	Het
Ttbk2	G	A	2: 120,579,056 (GRCm39)	L689F	probably benign	Het
Ttn	A	G	2: 76,641,040 (GRCm39)	S5283P	probably damaging	Het
Ube3b	C	A	5: 114,540,616 (GRCm39)	S441*	probably null	Het
Ush2a	G	A	1: 188,530,027 (GRCm39)	C3272Y	probably damaging	Het
Vac14	T	A	8: 111,359,109 (GRCm39)	I95K	probably damaging	Het
Vangl2	G	A	1: 171,833,784 (GRCm39)	A433V	probably damaging	Het
Vwa5b1	A	T	4: 138,336,135 (GRCm39)	V153D	probably damaging	Het
Zfhx3	T	A	8: 109,682,282 (GRCm39)	D3240E	unknown	Het
Zfp945	A	G	17: 23,070,004 (GRCm39)	C632R	probably damaging	Het
Zfyve26	G	A	12: 79,312,576 (GRCm39)		probably benign	Het
Zyg11b	A	T	4: 108,099,273 (GRCm39)	I606N	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- GCACGCCAACAAGGTCAAAGTG -3'
(R):5'- CAGAGTTAAGGCTCCAAGCAGCAG -3'

Sequencing Primer
(F):5'- TCAAAGTGCTGGACAGCC -3'
(R):5'- CACACCATACCTGGGGAGTAG -3'

Posted On

2015-02-04