Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02385:Spon1'

291494

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Spon1

Ensembl Gene

ENSMUSG00000038156

Gene Name

spondin 1, (f-spondin) extracellular matrix protein

Synonyms

FSP, D330035F22Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.821) question?

Stock #

IGL02385

Quality Score

Status

Chromosome

Chromosomal Location

113765998-114043370 bp(+) (GRCm38)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to G at 113766330 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 1 (M1R)

Ref Sequence

ENSEMBL: ENSMUSP00000081746 (fasta)

Gene Model

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

AlphaFold

Q8VCC9

Predicted Effect

probably null
Transcript: ENSMUST00000046687
AA Change: M1R

PolyPhen 2 Score 0.556 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000041157
Gene: ENSMUSG00000038156
AA Change: M1R

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 null
Transcript: ENSMUST00000084696
AA Change: M1R

PolyPhen 2 Score 0.556 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000081746
Gene: ENSMUSG00000038156
AA Change: M1R

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

Coding Region Coverage

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	A	12: 71,154,856	D351E	probably damaging	Het
4930452B06Rik	A	G	14: 8,510,920	V498A	possibly damaging	Het
Adad2	A	G	8: 119,615,034		probably benign	Het
Adamts8	A	G	9: 30,961,730	N744D	probably benign	Het
Atad5	C	T	11: 80,094,627	T180I	probably benign	Het
Atp2a3	C	A	11: 72,975,339	H262N	probably benign	Het
Bcl9	A	T	3: 97,209,278	I700K	probably benign	Het
Bcr	T	C	10: 75,145,403	S685P	probably damaging	Het
Cd36	A	G	5: 17,814,719	V128A	probably benign	Het
Chd2	T	C	7: 73,435,822	Y1688C	probably damaging	Het
Csmd1	A	G	8: 15,903,275	V3402A	probably benign	Het
Dsg3	T	C	18: 20,527,714	V370A	probably damaging	Het
Dus4l	A	G	12: 31,640,675		probably benign	Het
Fcrlb	A	G	1: 170,907,599	S320P	probably damaging	Het
Fer1l4	T	C	2: 156,045,428	D616G	probably benign	Het
Fxr2	C	T	11: 69,652,269	R631C	possibly damaging	Het
Gltpd2	T	A	11: 70,519,996	F152I	probably damaging	Het
Gpt2	T	A	8: 85,516,153		probably null	Het
Hsd3b6	A	T	3: 98,806,572	I137K	possibly damaging	Het
Kcna6	A	G	6: 126,738,954	V324A	probably benign	Het
Kcnu1	C	T	8: 25,932,270	L188F	probably damaging	Het
Kdm1b	A	G	13: 47,068,506	I474V	possibly damaging	Het
Kifap3	C	T	1: 163,865,444	Q602*	probably null	Het
Lrp4	T	A	2: 91,474,720	C231S	possibly damaging	Het
Lrrc63	T	C	14: 75,086,200	D528G	probably benign	Het
Nosip	C	A	7: 45,076,732	R240S	possibly damaging	Het
Olfr1287	A	G	2: 111,449,350	D70G	probably damaging	Het
Olfr1308	G	A	2: 111,960,258	P272S	probably benign	Het
Olfr742	T	C	14: 50,515,443	S80P	probably damaging	Het
Orc5	A	T	5: 22,526,440	D231E	probably damaging	Het
Poli	A	T	18: 70,526,574	M62K	possibly damaging	Het
Ppp1r13b	A	C	12: 111,835,043	S402R	probably damaging	Het
Prl3b1	T	C	13: 27,249,383	S174P	possibly damaging	Het
Ptpra	T	C	2: 130,540,473		probably benign	Het
Sfpq	T	A	4: 127,026,136		probably null	Het
Sh3bp1	T	A	15: 78,905,888		probably benign	Het
Slc7a2	T	G	8: 40,899,011	V37G	probably damaging	Het
Smc1a	A	T	X: 152,037,659	E794D	possibly damaging	Het
Sox6	T	C	7: 115,550,039	R366G	possibly damaging	Het
Spaca7	A	G	8: 12,586,498	N108S	possibly damaging	Het
Sult6b2	T	C	6: 142,801,772	R84G	probably benign	Het
Syt2	A	G	1: 134,745,815	N299S	probably benign	Het
Syvn1	T	C	19: 6,048,540	V104A	probably damaging	Het
Tbpl1	A	G	10: 22,707,669	L134P	probably damaging	Het
Tex11	A	T	X: 100,876,529		probably benign	Het
Tnfrsf21	A	G	17: 43,040,051	S369G	probably damaging	Het
Tram1l1	T	C	3: 124,322,058	V289A	probably benign	Het
Ttyh3	A	T	5: 140,633,305	F277L	probably benign	Het
Vmn2r17	T	G	5: 109,434,381	N545K	probably damaging	Het
Wdr20	A	T	12: 110,793,223	H181L	probably benign	Het
Zscan20	A	G	4: 128,604,599	M2T	possibly 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
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
R9278:Spon1	UTSW	7	114028953	missense	probably damaging	1.00
R9505:Spon1	UTSW	7	114033076	missense	probably damaging	0.98
R9711:Spon1	UTSW	7	113788448	missense	probably damaging	0.98
Z1088:Spon1	UTSW	7	113766386	missense	possibly damaging	0.83
Z1176:Spon1	UTSW	7	113927794	missense	probably damaging	1.00

Posted On

2015-04-16