Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01359:Spon1'

75654

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

Is this an essential gene?

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

Stock #

IGL01359

Quality Score

Status

Chromosome

Chromosomal Location

113765998-114043370 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 114034290 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 656 (Q656L)

Ref Sequence

ENSEMBL: ENSMUSP00000041157 (fasta)

Gene Model

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

AlphaFold

Q8VCC9

Predicted Effect

probably damaging
Transcript: ENSMUST00000046687
AA Change: Q656L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000041157
Gene: ENSMUSG00000038156
AA Change: Q656L

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

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
Adgrf1	G	A	17: 43,310,686	E605K	probably damaging	Het
Adgrl4	G	A	3: 151,543,286	C737Y	probably damaging	Het
Ankk1	A	T	9: 49,416,028	I617N	possibly damaging	Het
B3gat2	T	C	1: 23,763,220	F196L	probably damaging	Het
Bcl2l14	T	A	6: 134,423,865	I83N	probably damaging	Het
Bcr	T	C	10: 75,159,779		probably benign	Het
Ckmt2	A	T	13: 91,861,820	I127N	probably damaging	Het
Dhx33	G	A	11: 70,993,861	Q40*	probably null	Het
Dnah11	T	C	12: 117,982,999	T3117A	probably damaging	Het
Dnaic2	A	G	11: 114,751,788	Y405C	probably benign	Het
Emc2	A	G	15: 43,511,749	Y214C	probably damaging	Het
Fbxw2	T	C	2: 34,822,750	T100A	probably benign	Het
Fkrp	C	T	7: 16,811,490	R149Q	probably benign	Het
Fsd1l	A	G	4: 53,659,601	R153G	possibly damaging	Het
Galnt4	T	C	10: 99,109,597	Y395H	probably damaging	Het
Gk5	T	C	9: 96,137,789	L126P	probably damaging	Het
Gm973	A	G	1: 59,630,279	S830G	probably benign	Het
Gpc5	G	A	14: 115,369,750	G255S	possibly damaging	Het
Grk3	C	A	5: 112,937,760	S370I	probably damaging	Het
Herc1	A	G	9: 66,439,268	D1972G	probably benign	Het
Itih3	T	A	14: 30,917,772	D364V	probably damaging	Het
Lce1f	G	T	3: 92,719,184	C55*	probably null	Het
Ltn1	A	C	16: 87,405,693		probably benign	Het
Lyl1	C	T	8: 84,702,686	A8V	possibly damaging	Het
Mdn1	A	G	4: 32,743,686	E3974G	probably benign	Het
Msl3l2	T	C	10: 56,116,244	V355A	probably damaging	Het
Nadsyn1	T	C	7: 143,821,230	I30V	possibly damaging	Het
Nuggc	T	C	14: 65,623,207	V418A	probably damaging	Het
Olfr1308	A	T	2: 111,961,061	M4K	probably benign	Het
Olfr553	A	T	7: 102,614,172	H272Q	probably benign	Het
Olfr671	T	C	7: 104,975,986		probably null	Het
Ppp4r3a	T	C	12: 101,058,496	E248G	probably damaging	Het
Rab3gap2	T	A	1: 185,238,870	V234E	probably damaging	Het
Radil	G	A	5: 142,543,713	T105I	probably damaging	Het
Saa4	A	G	7: 46,731,636	W21R	possibly damaging	Het
Sec62	G	A	3: 30,814,306	S228N	unknown	Het
Setd4	C	T	16: 93,591,239	G120S	probably damaging	Het
Sgpl1	G	A	10: 61,100,908	T556I	probably benign	Het
Slc14a2	T	C	18: 78,154,108	D811G	probably benign	Het
Slc26a11	A	T	11: 119,363,431	M192L	probably benign	Het
Tex15	A	G	8: 33,581,898	D2491G	probably damaging	Het
Tox	T	C	4: 6,697,583	T407A	probably damaging	Het
Ubr5	A	T	15: 37,973,006	I2611N	probably damaging	Het
Usp25	G	A	16: 77,059,253	A245T	probably damaging	Het
Vwa8	C	A	14: 79,064,913	Y1007*	probably null	Het
Zfp423	T	C	8: 87,780,662	H893R	probably damaging	Het
Zfp507	A	G	7: 35,794,502	I372T	probably damaging	Het

Other mutations in Spon1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2013-10-07