Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02562:Spon1'

298713

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 #

IGL02562

Quality Score

Status

Chromosome

Chromosomal Location

113765998-114043370 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 114036761 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 737 (S737G)

Ref Sequence

ENSEMBL: ENSMUSP00000041157 (fasta)

Gene Model

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

AlphaFold

Q8VCC9

Predicted Effect

probably benign
Transcript: ENSMUST00000046687
AA Change: S737G

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000041157
Gene: ENSMUSG00000038156
AA Change: S737G

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl4	T	C	3: 151,439,312	C33R	probably damaging	Het
Aifm3	A	G	16: 17,506,262	N562S	probably benign	Het
Akap14	G	A	X: 37,163,788	T98M	possibly damaging	Het
Atp7b	T	G	8: 22,028,085	T234P	probably benign	Het
Atp8b1	T	A	18: 64,581,986	Q65L	probably benign	Het
Bclaf3	T	C	X: 159,566,438	S600P	probably benign	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Col4a5	A	G	X: 141,656,675		probably benign	Het
Gigyf2	A	G	1: 87,407,375	D120G	probably benign	Het
Gm20498	T	C	12: 81,510,842	D63G	probably damaging	Het
Gm4953	A	T	1: 159,168,507		noncoding transcript	Het
Hip1r	G	T	5: 123,991,523		probably benign	Het
Itga2	A	G	13: 114,836,570		probably benign	Het
Itga3	T	C	11: 95,068,793	T85A	probably benign	Het
Loxl1	A	G	9: 58,288,916	S607P	probably damaging	Het
March2	G	A	17: 33,696,074	T182I	probably damaging	Het
Mbd1	T	C	18: 74,276,922	S386P	probably benign	Het
Meis2	C	A	2: 116,049,146	G231V	probably damaging	Het
Mum1	A	G	10: 80,238,895	D438G	probably damaging	Het
Myo1h	A	G	5: 114,357,992	K774E	probably benign	Het
Olfr1044	T	G	2: 86,171,040	Y259S	probably damaging	Het
Olfr167	A	T	16: 19,514,964	I224N	possibly damaging	Het
Olfr385	T	C	11: 73,589,411	N109S	probably benign	Het
Olfr610	G	T	7: 103,506,216	C243*	probably null	Het
Olfr714	C	A	7: 107,074,562	H245N	probably benign	Het
Pcm1	T	A	8: 41,325,368	D1813E	probably damaging	Het
Pdcl2	A	G	5: 76,319,191	Y52H	probably damaging	Het
Piezo1	T	C	8: 122,496,763	T816A	probably benign	Het
Ptpn13	T	G	5: 103,562,291	L1564R	probably damaging	Het
Slc7a2	T	A	8: 40,915,020	M607K	probably damaging	Het
Snrpa	T	A	7: 27,191,698	K116M	probably damaging	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Sspo	A	G	6: 48,490,122		probably null	Het
Tubb4a	C	A	17: 57,081,163	E288*	probably null	Het
Vmn2r87	A	T	10: 130,478,644	C358S	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
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

2015-04-16