Mutagenetix > Incidental Mutations

Incidental Mutation 'R8075:Spon1'

628966

Institutional Source

Beutler Lab

Gene Symbol

Spon1

Ensembl Gene

ENSMUSG00000038156

Gene Name

spondin 1, (f-spondin) extracellular matrix protein

Synonyms

FSP, D330035F22Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.239) question?

Stock #

R8075 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

113765998-114043370 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 114016793 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000041157 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046687]

AlphaFold

Q8VCC9

Predicted Effect

probably null
Transcript: ENSMUST00000046687

SMART Domains

Protein: ENSMUSP00000041157
Gene: ENSMUSG00000038156

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
Pfam:Reeler	44	172	1e-24	PFAM
Pfam:Spond_N	205	399	7.5e-74	PFAM
low complexity region	431	442	N/A	INTRINSIC
TSP1	445	495	7.92e-8	SMART
TSP1	504	555	6.57e-14	SMART
TSP1	561	611	2.29e-13	SMART
TSP1	617	666	1.45e-15	SMART
TSP1	671	721	1.21e-12	SMART
low complexity region	730	747	N/A	INTRINSIC
TSP1	757	806	3.12e-6	SMART

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 98.8%
20x: 95.6%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele display increased trabecular and cortical bone mass. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad10	A	T	5: 121,652,085	H69Q	probably benign	Het
Aif1	T	A	17: 35,171,835	N87Y	unknown	Het
Caprin2	A	T	6: 148,869,092	V468E	probably benign	Het
Cep68	A	T	11: 20,239,335	V559D	probably benign	Het
Chrna4	A	C	2: 181,039,066	I3S	unknown	Het
Cog3	T	C	14: 75,730,702	Y407C	probably damaging	Het
Col15a1	A	G	4: 47,208,359	H3R	probably benign	Het
Ctxn1	A	G	8: 4,258,553	V26A	probably benign	Het
Cyp27b1	A	C	10: 127,051,513	T405P	probably damaging	Het
Cyp2c65	A	G	19: 39,072,238	I181V	probably benign	Het
Dusp6	T	A	10: 99,264,948	S269T	possibly damaging	Het
Efcab6	A	T	15: 83,967,623	D351E	probably damaging	Het
Fam181a	A	T	12: 103,316,037	H67L	possibly damaging	Het
Fbxl18	A	G	5: 142,886,106	L458P	probably damaging	Het
Flnb	T	C	14: 7,913,048	I1439T	probably benign	Het
Foxj2	C	T	6: 122,838,096	Q364*	probably null	Het
Gm3138	A	T	14: 4,250,532	N55Y	probably damaging	Het
Hmcn2	A	G	2: 31,389,391	T1802A	possibly damaging	Het
Hoxc6	T	C	15: 103,010,893	I187T	probably damaging	Het
Ighg3	T	A	12: 113,357,477	I387F		Het
Insr	A	T	8: 3,155,862	M1309K	probably benign	Het
Itsn1	A	T	16: 91,889,209	N1290I	unknown	Het
Jag2	C	A	12: 112,915,274	R509L	probably benign	Het
Kctd11	T	A	11: 69,880,269		probably benign	Het
Med13	C	A	11: 86,272,470	V2126F	probably damaging	Het
Mgea5	A	T	19: 45,761,182	N699K	probably damaging	Het
Mknk2	G	A	10: 80,672,148		probably benign	Het
Olfr1026	A	G	2: 85,924,126	N286S	probably benign	Het
Olfr685	T	G	7: 105,181,136	H74P	probably damaging	Het
Pdzrn4	T	C	15: 92,677,724	V337A	probably damaging	Het
Pik3c3	A	G	18: 30,305,029	N491D	probably damaging	Het
Pla2g12b	T	A	10: 59,421,452	S96T	unknown	Het
Rab37	G	T	11: 115,091,933		probably null	Het
Rp9	G	A	9: 22,457,492	T57M	probably damaging	Het
Rrp12	A	G	19: 41,863,274	V1274A	probably damaging	Het
Serpinb11	G	A	1: 107,370,789	V57M	probably damaging	Het
Slc1a7	G	A	4: 108,012,276	V513M	probably benign	Het
Slc39a14	A	T	14: 70,308,798	I392N	possibly damaging	Het
Sowahb	G	A	5: 93,044,417	Q148*	probably null	Het
Susd4	C	A	1: 182,765,183	T48K	possibly damaging	Het
Taf4b	T	C	18: 14,783,692	V33A	possibly damaging	Het
Tas2r139	T	A	6: 42,141,220	N95K	probably benign	Het
Tle3	T	C	9: 61,374,559	M57T	probably benign	Het
Usp13	T	A	3: 32,931,703	M815K	probably damaging	Het
Vps8	A	G	16: 21,521,894	D796G	probably damaging	Het
Wnk1	C	T	6: 119,932,714	G41S	probably damaging	Het
Zfp867	A	G	11: 59,464,240	S88P	probably benign	Het

Other mutations in Spon1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01359:Spon1	APN	7	114034290	missense	probably damaging	1.00
IGL02385:Spon1	APN	7	113766330	start codon destroyed	probably null	0.56
IGL02496:Spon1	APN	7	114036662	missense	probably benign	0.00
IGL02562:Spon1	APN	7	114036761	missense	probably benign	0.12
IGL03063:Spon1	APN	7	114033025	missense	possibly damaging	0.85
IGL03153:Spon1	APN	7	114030344	missense	probably damaging	1.00
IGL03392:Spon1	APN	7	114034287	missense	probably damaging	0.99
Rust	UTSW	7	114016791	missense	possibly damaging	0.77
Wilt	UTSW	7	113766384	missense	probably damaging	0.98
R0512:Spon1	UTSW	7	113836833	missense	possibly damaging	0.59
R0646:Spon1	UTSW	7	114039821	missense	probably benign	0.04
R1194:Spon1	UTSW	7	113886798	missense	probably benign
R1832:Spon1	UTSW	7	114016785	missense	probably benign	0.26
R2391:Spon1	UTSW	7	113886847	missense	probably damaging	1.00
R3747:Spon1	UTSW	7	113766384	missense	probably damaging	0.98
R3747:Spon1	UTSW	7	114016791	missense	possibly damaging	0.77
R3749:Spon1	UTSW	7	113766384	missense	probably damaging	0.98
R3749:Spon1	UTSW	7	114016791	missense	possibly damaging	0.77
R3750:Spon1	UTSW	7	113766384	missense	probably damaging	0.98
R3750:Spon1	UTSW	7	114016791	missense	possibly damaging	0.77
R4666:Spon1	UTSW	7	114028969	missense	probably benign	0.20
R4730:Spon1	UTSW	7	114033071	missense	possibly damaging	0.92
R4774:Spon1	UTSW	7	114039867	missense	probably damaging	0.99
R5855:Spon1	UTSW	7	114029072	missense	probably damaging	0.99
R5870:Spon1	UTSW	7	114031786	missense	probably damaging	1.00
R5914:Spon1	UTSW	7	114030821	missense	probably damaging	1.00
R6523:Spon1	UTSW	7	113886785	missense	probably benign	0.00
R7138:Spon1	UTSW	7	114036710	missense	probably damaging	1.00
R7295:Spon1	UTSW	7	114030240	missense	possibly damaging	0.85
R7844:Spon1	UTSW	7	114030332	missense	probably benign	0.01
R8064:Spon1	UTSW	7	114036621	missense	probably damaging	1.00
R8927:Spon1	UTSW	7	114030357	critical splice donor site	probably null
R8928:Spon1	UTSW	7	114030357	critical splice donor site	probably null
R9278:Spon1	UTSW	7	114028953	missense	probably damaging	1.00
Z1088:Spon1	UTSW	7	113766386	missense	possibly damaging	0.83
Z1176:Spon1	UTSW	7	113927794	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCAGACTAGGAACACTCAGTGC -3'
(R):5'- CTGTAGTCCCAAGAAGACAAGG -3'

Sequencing Primer
(F):5'- ACCTCCTAGTGTAGCTGGCATG -3'
(R):5'- TGTAGTCCCAAGAAGACAAGGTTTCC -3'

Posted On

2020-06-30