Mutagenetix > Incidental Mutations

Incidental Mutation 'R2391:Spon1'

247763

Institutional Source

Beutler Lab

Gene Symbol

Spon1

Ensembl Gene

ENSMUSG00000038156

Gene Name

spondin 1, (f-spondin) extracellular matrix protein

Synonyms

FSP, D330035F22Rik

MMRRC Submission

040359-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R2391 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

113765998-114043370 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 113886847 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 210 (T210M)

Ref Sequence

ENSEMBL: ENSMUSP00000081746 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046687] [ENSMUST00000084696]

AlphaFold

Q8VCC9

Predicted Effect

probably damaging
Transcript: ENSMUST00000046687
AA Change: T210M

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

SMART Domains

Protein: ENSMUSP00000041157
Gene: ENSMUSG00000038156
AA Change: T210M

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000084696
AA Change: T210M

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

SMART Domains

Protein: ENSMUSP00000081746
Gene: ENSMUSG00000038156
AA Change: T210M

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
Pfam:Reeler	43	173	1.5e-35	PFAM
Pfam:Spond_N	204	281	1.3e-31	PFAM

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

100% (36/36)

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110004F10Rik	T	A	7: 116,104,226	D24E	probably damaging	Het
Abca4	A	G	3: 122,158,422	H689R	probably benign	Het
Acss3	T	G	10: 107,123,487	T33P	probably benign	Het
BC005537	T	A	13: 24,809,915	Y124*	probably null	Het
Capn2	T	C	1: 182,478,609	D524G	probably benign	Het
Catsperb	A	G	12: 101,624,706	Y1011C	probably damaging	Het
Cdk18	G	T	1: 132,115,474	Q438K	probably benign	Het
Ckap5	A	G	2: 91,585,869	M1047V	possibly damaging	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Dmbt1	T	A	7: 131,106,468	I1306N	probably damaging	Het
Emp2	A	T	16: 10,284,588	I120N	probably damaging	Het
Gm2888	A	T	14: 3,037,656	D216V	possibly damaging	Het
Naa16	T	A	14: 79,370,049	H287L	probably benign	Het
Odf3l2	A	T	10: 79,645,650	V15E	probably benign	Het
Olfm5	A	G	7: 104,160,834	S107P	probably benign	Het
Olfr1419	G	T	19: 11,870,816	Y133*	probably null	Het
Olfr421-ps1	T	C	1: 174,152,098	V194A	probably benign	Het
Olfr78	C	A	7: 102,742,374	V210F	possibly damaging	Het
Ptpn2	A	T	18: 67,675,889		probably null	Het
Serpinb8	A	G	1: 107,607,069	D290G	probably damaging	Het
Sfmbt2	T	C	2: 10,445,693	Y260H	possibly damaging	Het
Slc6a20a	A	T	9: 123,664,621	V65E	probably damaging	Het
Sugp1	T	C	8: 70,059,411		probably null	Het
Tas2r143	C	A	6: 42,400,876	H213Q	probably damaging	Het
Terf1	C	A	1: 15,805,739	S21*	probably null	Het
Trim12a	T	C	7: 104,306,931	E134G	probably damaging	Het
Trip12	TATACATACATACATACATACATACATACATAC	TATACATACATACATACATACATACATACATACATAC	1: 84,814,790		probably null	Het
Tssk5	T	C	15: 76,374,551	Y45C	probably benign	Het
Usp29	T	A	7: 6,963,771		probably null	Het
Wdfy4	A	T	14: 33,162,807	M46K	possibly damaging	Het
Wdr90	G	A	17: 25,851,455	P1104L	probably damaging	Het
Znhit6	T	C	3: 145,594,658	S230P	probably damaging	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
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
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'- GAGCCTTACAAATCAATGCAACTG -3'
(R):5'- ATGAAACTGTCAGAACAATGCC -3'

Sequencing Primer
(F):5'- CTGTATTGCATCTTCTTTATACAGGG -3'
(R):5'- TGTCAGAACAATGCCATTCAAAG -3'

Posted On

2014-11-11