Mutagenetix > Incidental Mutations

Incidental Mutation 'R7844:Spon1'

606508

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 #

R7844 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113765998-114043370 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 114030332 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 404 (V404I)

Ref Sequence

ENSEMBL: ENSMUSP00000041157 (fasta)

Gene Model

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

AlphaFold

Q8VCC9

Predicted Effect

probably benign
Transcript: ENSMUST00000046687
AA Change: V404I

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000041157
Gene: ENSMUSG00000038156
AA Change: V404I

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (58/59)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016D06Rik	A	T	8: 11,656,174	I120K	probably benign	Het
4930553M12Rik	T	C	4: 88,868,186	E65G	unknown	Het
Abcg5	A	T	17: 84,673,590	N190K	possibly damaging	Het
Abhd6	A	C	14: 8,039,792	H55P	probably benign	Het
Acox3	A	T	5: 35,607,148	Q535L	probably benign	Het
Adora1	A	G	1: 134,203,538	W132R	probably damaging	Het
Armc3	A	G	2: 19,254,018	I299V	possibly damaging	Het
Atp11a	A	G	8: 12,851,039	D956G	possibly damaging	Het
Bptf	C	A	11: 107,074,061	V1436F	probably damaging	Het
Brd9	A	G	13: 73,938,533	Y51C	probably damaging	Het
Cdh18	T	C	15: 23,410,787	W453R	probably damaging	Het
Cfap54	T	C	10: 92,902,058	Q2326R	unknown	Het
Col4a2	G	T	8: 11,425,453	E626*	probably null	Het
Dpp8	A	G	9: 65,045,667	I208M	probably damaging	Het
Evi5	T	C	5: 107,874,994	R16G	probably benign	Het
Gabrg1	T	C	5: 70,774,332	Y356C	probably damaging	Het
Gbp7	G	T	3: 142,536,386	V94L	probably benign	Het
Gm4884	A	C	7: 41,040,698	Q6P	probably benign	Het
Gm5538	A	T	3: 59,729,897	I27F	probably benign	Het
Gm9767	A	T	10: 26,078,357		probably benign	Het
Gopc	T	C	10: 52,339,749	S448G	possibly damaging	Het
Gpr15	A	T	16: 58,718,510	I72N	probably damaging	Het
Hsd17b11	T	A	5: 104,018,266	T76S	probably damaging	Het
Inhbe	A	G	10: 127,350,910	S134P	possibly damaging	Het
Inpp4b	G	A	8: 81,741,320		probably benign	Het
Ipo9	A	G	1: 135,394,324	V556A	probably benign	Het
Klhdc2	T	A	12: 69,302,406	F106I	probably damaging	Het
Krt7	G	A	15: 101,412,634	G54D	possibly damaging	Het
Mecom	T	G	3: 30,009,824	Y39S	unknown	Het
Mrpl49	C	T	19: 6,055,170	R87H	probably damaging	Het
Nfat5	A	G	8: 107,358,668	D531G	probably damaging	Het
Nlrp9a	A	T	7: 26,562,581	K718N	possibly damaging	Het
Ogfr	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	2: 180,595,057		probably benign	Het
Olfr646	T	G	7: 104,106,483	L68W	probably damaging	Het
Pigu	A	C	2: 155,292,720	Y388*	probably null	Het
Pirb	A	T	7: 3,719,411	C144*	probably null	Het
Pkm	A	G	9: 59,670,722	H274R	probably benign	Het
Plch2	C	A	4: 154,989,465	D927Y	probably damaging	Het
Rock1	T	G	18: 10,104,173	K596Q	probably damaging	Het
Scaper	A	T	9: 55,815,448	M692K	probably benign	Het
Serpine1	C	A	5: 137,071,189	G39*	probably null	Het
Serpine2	T	C	1: 79,816,799	Q139R	probably benign	Het
Sipa1l1	C	A	12: 82,397,493	R993S	probably damaging	Het
Slc12a9	T	C	5: 137,332,186	T86A	probably damaging	Het
Slc30a6	G	A	17: 74,404,093		probably null	Het
Snrnp48	A	G	13: 38,209,989	E90G	probably null	Het
Spdl1	A	T	11: 34,813,343	N554K	possibly damaging	Het
Tada3	C	T	6: 113,370,960	R300H	probably benign	Het
Tcl1b5	G	A	12: 105,176,556		probably null	Het
Tdrd9	A	G	12: 111,997,952	Y336C	possibly damaging	Het
Timm44	A	G	8: 4,269,976	L64P	possibly damaging	Het
Tpo	A	G	12: 30,100,405	L492P	probably damaging	Het
Trip11	T	G	12: 101,878,144	Q1565P	probably damaging	Het
Trpm2	A	G	10: 77,923,506	I1148T	probably benign	Het
Tshz1	T	C	18: 84,014,171	E704G	probably benign	Het
Tysnd1	C	T	10: 61,702,165	R541*	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
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'- GGCATGCAAGGTCCTATTAGAG -3'
(R):5'- AAATCATTCATCTGATCCTGGCTTC -3'

Sequencing Primer
(F):5'- CATGCAAGGTCCTATTAGAGTTTTTG -3'
(R):5'- GATCCTGGCTTCTCTCTGAGTTG -3'

Posted On

2019-12-20