Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03153:Spon1'

411154

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 #

IGL03153

Quality Score

Status

Chromosome

Chromosomal Location

113765998-114043370 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 114030344 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 408 (I408F)

Ref Sequence

ENSEMBL: ENSMUSP00000041157 (fasta)

Gene Model

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

AlphaFold

Q8VCC9

Predicted Effect

probably damaging
Transcript: ENSMUST00000046687
AA Change: I408F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000041157
Gene: ENSMUSG00000038156
AA Change: I408F

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933430I17Rik	A	G	4: 62,547,326	E419G	possibly damaging	Het
Abcg3	A	G	5: 104,974,765		probably benign	Het
Adam17	T	C	12: 21,345,697	D256G	probably damaging	Het
Adgrb3	G	A	1: 25,531,897	R500*	probably null	Het
Aldh3a2	A	G	11: 61,258,839	Y234H	probably damaging	Het
Alpk3	A	G	7: 81,093,395	T987A	probably benign	Het
Amtn	A	G	5: 88,384,969	K148E	possibly damaging	Het
Asap1	G	A	15: 64,160,274	T237M	probably damaging	Het
Ccdc124	A	T	8: 70,868,929		probably null	Het
Cdon	T	C	9: 35,477,959	Y787H	probably damaging	Het
Coro7	A	G	16: 4,635,382		probably null	Het
Dram2	T	A	3: 106,555,174		probably benign	Het
Drd5	T	C	5: 38,319,781	V39A	probably benign	Het
Ern1	A	G	11: 106,410,098	L490P	possibly damaging	Het
Fat1	A	G	8: 45,030,123	T3083A	possibly damaging	Het
Irgm1	A	G	11: 48,866,267	I239T	probably damaging	Het
Klhl10	A	T	11: 100,456,932	T605S	probably benign	Het
Lcor	T	A	19: 41,558,356	S126R	probably damaging	Het
Lgi4	G	T	7: 31,060,558	V60F	probably damaging	Het
Lin37	G	A	7: 30,557,160	R84W	probably damaging	Het
Lmf1	A	G	17: 25,585,650	S97G	possibly damaging	Het
Oasl2	A	G	5: 114,901,332	T194A	probably benign	Het
Olfr199	A	G	16: 59,216,203	S137P	probably benign	Het
Pnpo	A	T	11: 96,943,835	F12I	probably damaging	Het
Prdm4	T	C	10: 85,907,996	T132A	probably benign	Het
Ptbp2	T	C	3: 119,751,944	T118A	probably benign	Het
Ptf1a	T	A	2: 19,446,645		probably benign	Het
Rev3l	T	A	10: 39,806,878	F331I	probably damaging	Het
Rfx6	C	A	10: 51,723,121	S524*	probably null	Het
Scube3	A	G	17: 28,167,058	S758G	possibly damaging	Het
Slc44a2	T	C	9: 21,343,200	I257T	probably benign	Het
Srpk1	C	A	17: 28,592,266	D541Y	possibly damaging	Het
Tenm4	A	T	7: 96,873,762	I1467F	probably damaging	Het
Tex33	T	C	15: 78,385,316	D188G	probably damaging	Het
Uggt1	A	C	1: 36,202,818	V345G	possibly damaging	Het
Vmn1r23	A	T	6: 57,925,932	I287K	probably damaging	Het
Whamm	A	G	7: 81,589,532		probably benign	Het
Zeb1	A	G	18: 5,770,511	D888G	probably damaging	Het
Zfp263	A	G	16: 3,746,880	N253S	possibly damaging	Het
Zfp446	C	A	7: 12,977,907	A19E	probably benign	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
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

2016-08-02