Mutagenetix > Incidental Mutations

Incidental Mutation 'R9278:Spon1'

703434

Institutional Source

Beutler Lab

Gene Symbol

Spon1

Ensembl Gene

ENSMUSG00000038156

Gene Name

spondin 1, (f-spondin) extracellular matrix protein

Synonyms

FSP, D330035F22Rik

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.770) question?

Stock #

R9278 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

113765998-114043370 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 114028953 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 315 (S315P)

Ref Sequence

ENSEMBL: ENSMUSP00000041157 (fasta)

Gene Model

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

AlphaFold

Q8VCC9

Predicted Effect

probably damaging
Transcript: ENSMUST00000046687
AA Change: S315P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000041157
Gene: ENSMUSG00000038156
AA Change: S315P

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: 93.4%
3x: 93.4%
10x: 93.2%
20x: 92.9%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afdn	T	A	17: 13,804,008	C59S	probably damaging	Het
Aicda	C	T	6: 122,561,895	A161V	possibly damaging	Het
Ankrd12	C	T	17: 66,037,604	E91K	possibly damaging	Het
Arpc2	C	A	1: 74,236,882	F19L	probably benign	Het
Aspa	T	C	11: 73,324,454	K12E	possibly damaging	Het
Chd8	G	A	14: 52,235,170	P392L	probably benign	Het
Cldn10	C	T	14: 118,874,235	R206W	probably damaging	Het
Clec4b2	T	A	6: 123,204,265	M203K	probably damaging	Het
Clec4d	T	C	6: 123,274,690	M177T	probably benign	Het
Clec4d	G	T	6: 123,274,692	E178*	probably null	Het
Cmpk2	A	T	12: 26,469,569	Y73F	probably benign	Het
Col1a1	T	A	11: 94,947,277	V845D	unknown	Het
Cyp2c67	C	T	19: 39,609,255	R433Q	probably damaging	Het
Dda1	A	T	8: 71,474,486		probably null	Het
Ddx60	A	T	8: 61,977,978	Y849F	possibly damaging	Het
Dnm2	C	T	9: 21,505,681	R837W	possibly damaging	Het
Dtwd1	C	T	2: 126,164,808	T250I	probably damaging	Het
Efcab6	A	G	15: 83,892,893	V1114A	probably damaging	Het
Fat4	A	G	3: 38,891,022	T1355A	probably benign	Het
Fbxo40	T	G	16: 36,969,578	D390A	possibly damaging	Het
Gm7534	A	G	4: 134,195,459	L521P	probably damaging	Het
Gnaz	T	A	10: 74,991,605	L63Q	probably benign	Het
H6pd	T	A	4: 149,995,850	K179N	probably damaging	Het
Hps5	A	G	7: 46,790,973	F18L	probably benign	Het
Hyal5	A	G	6: 24,876,695	E189G	probably benign	Het
Ifnar1	T	A	16: 91,505,125	I496N	probably damaging	Het
Igf2r	C	A	17: 12,695,353	C1743F	probably damaging	Het
Igfn1	C	A	1: 135,973,447	R431L	probably damaging	Het
Itch	A	G	2: 155,203,297	Q507R	probably benign	Het
Kbtbd2	C	A	6: 56,780,346	R135L	probably damaging	Het
Kcnn2	T	C	18: 45,592,379	I314T	probably damaging	Het
Lix1	A	G	17: 17,402,949	D2G	probably damaging	Het
Lrp1b	T	C	2: 40,597,064	Y4557C		Het
Ltbp2	G	A	12: 84,791,090	P1192L	probably benign	Het
Med19	G	T	2: 84,678,631	G63C	probably damaging	Het
Mfsd4b1	C	T	10: 40,007,334	R40H	probably damaging	Het
Neb	C	T	2: 52,256,178	R2929H	probably damaging	Het
Nlrc5	A	G	8: 94,511,280	D1434G	probably benign	Het
Nlrp14	A	T	7: 107,197,842	N972I	probably damaging	Het
Olfr1247	A	C	2: 89,609,604	F166C	probably damaging	Het
Olfr128	A	T	17: 37,924,384	M273L	probably benign	Het
Olfr132	A	T	17: 38,130,802	L130Q	probably damaging	Het
Olfr46	T	C	7: 140,611,023	Y278H	probably damaging	Het
Olfr947-ps1	A	G	9: 39,289,485	V135A	probably benign	Het
Otop1	T	C	5: 38,302,815	V575A	probably damaging	Het
Pcdhb4	A	G	18: 37,308,872	S412G	possibly damaging	Het
Pcsk4	T	C	10: 80,325,390	D230G	probably damaging	Het
Phldb2	C	A	16: 45,825,945	S46I	probably damaging	Het
Pik3ca	A	T	3: 32,454,438	N785I	probably damaging	Het
Polr2b	A	G	5: 77,323,638	R274G	probably damaging	Het
Prkdc	G	A	16: 15,816,659		probably null	Het
Prune2	C	T	19: 17,123,780	T2216I	probably benign	Het
Psma3	A	T	12: 70,994,382	D252V	probably benign	Het
Rnf213	T	C	11: 119,435,942	V1586A		Het
Ryr2	T	C	13: 11,883,090	T140A	probably benign	Het
Slc25a48	A	G	13: 56,463,739	I220V	probably benign	Het
Slc2a1	A	T	4: 119,133,410	E246D	probably benign	Het
Slc45a4	A	G	15: 73,586,357	Y448H	probably benign	Het
Sorl1	C	T	9: 42,046,561	V596I	probably benign	Het
Spag6	A	C	2: 18,699,174	E11A	probably benign	Het
Spef2	A	G	15: 9,727,409		probably null	Het
Stard3	G	A	11: 98,372,105		probably benign	Het
Sv2c	A	G	13: 95,976,081	M636T	probably damaging	Het
Syt17	T	A	7: 118,434,257	D172V	probably damaging	Het
Tcf4	A	G	18: 69,633,581	Y206C	probably damaging	Het
Tead2	G	T	7: 45,231,352	S318I	probably benign	Het
Tom1	A	T	8: 75,057,255	D289V	probably damaging	Het
Tsen15	T	C	1: 152,383,347	I87V	probably damaging	Het
Ttc30a2	T	C	2: 75,977,031	D379G	probably damaging	Het
Usp15	A	G	10: 123,171,207	F123S	probably damaging	Het
Vmn1r220	A	T	13: 23,184,088	I146N	possibly damaging	Het
Vmn2r108	A	T	17: 20,472,299	N98K	probably benign	Het
Vmn2r71	T	A	7: 85,620,580	M433K	probably benign	Het
Vmn2r97	A	T	17: 18,914,500	H60L	probably benign	Het
Wbp4	A	G	14: 79,462,046	V336A	probably benign	Het
Zfp663	T	C	2: 165,360,090		probably null	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
R8075:Spon1	UTSW	7	114016793	critical splice donor site	probably null
R8927:Spon1	UTSW	7	114030357	critical splice donor site	probably null
R8928:Spon1	UTSW	7	114030357	critical splice donor site	probably null
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'- GATGCTTGAGGAACCAATCTGC -3'
(R):5'- GGACACCTAGAACATGGCAGAC -3'

Sequencing Primer
(F):5'- GCTTGAGGAACCAATCTGCATTCAC -3'
(R):5'- CTGAGGGAGTTTGCCTTCC -3'

Posted On

2022-03-25