Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01790:Sparc'

155194

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sparc

Ensembl Gene

ENSMUSG00000018593

Gene Name

secreted acidic cysteine rich glycoprotein

Synonyms

osteonectin, BM-40

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01790

Quality Score

Status

Chromosome

Chromosomal Location

55284985-55310906 bp(-) (GRCm39)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

C to T at 55298041 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000149918 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018737] [ENSMUST00000108858] [ENSMUST00000141530] [ENSMUST00000213866] [ENSMUST00000214685] [ENSMUST00000216313]

AlphaFold

P07214

Predicted Effect

probably null
Transcript: ENSMUST00000018737

SMART Domains

Protein: ENSMUSP00000018737
Gene: ENSMUSG00000018593

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
low complexity region	22	42	N/A	INTRINSIC
FOLN	70	93	5.24e-8	SMART
KAZAL	93	148	1.16e-9	SMART
Pfam:SPARC_Ca_bdg	151	288	5.3e-42	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000108858

SMART Domains

Protein: ENSMUSP00000104486
Gene: ENSMUSG00000018593

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
low complexity region	21	41	N/A	INTRINSIC
FOLN	69	92	5.24e-8	SMART
KAZAL	92	147	1.16e-9	SMART
Pfam:SPARC_Ca_bdg	150	287	1.1e-43	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125787

Predicted Effect

probably null
Transcript: ENSMUST00000141530

SMART Domains

Protein: ENSMUSP00000119475
Gene: ENSMUSG00000018593

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
FOLN	68	91	5.24e-8	SMART
KAZAL	91	146	1.16e-9	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000213866

Predicted Effect

probably null
Transcript: ENSMUST00000214685

Predicted Effect

probably null
Transcript: ENSMUST00000216313

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cysteine-rich acidic matrix-associated protein. The encoded protein is required for the collagen in bone to become calcified but is also involved in extracellular matrix synthesis and promotion of changes to cell shape. The gene product has been associated with tumor suppression but has also been correlated with metastasis based on changes to cell shape which can promote tumor cell invasion. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2015]
PHENOTYPE: Homozygotes for targeted null mutations exhibit cataracts, reduced skin collagen content, accelerated wound closure, osteopenia associated with reduced bone remodeling, and increased growth of implanted tumors. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Astn1	T	C	1: 158,407,897 (GRCm39)	I618T	possibly damaging	Het
Bod1l	T	C	5: 41,989,593 (GRCm39)	S377G	probably benign	Het
Disp2	A	T	2: 118,621,361 (GRCm39)	S698C	probably damaging	Het
Ehbp1l1	A	G	19: 5,773,012 (GRCm39)	V43A	probably damaging	Het
Eml5	G	T	12: 98,765,191 (GRCm39)	T1539K	probably damaging	Het
Fmnl2	T	C	2: 53,008,380 (GRCm39)	I824T	probably damaging	Het
Gpr75	T	G	11: 30,841,132 (GRCm39)	N12K	probably damaging	Het
Hap1	C	T	11: 100,242,732 (GRCm39)		probably null	Het
Helz2	A	C	2: 180,880,274 (GRCm39)	Y481D	probably benign	Het
Klhl3	T	C	13: 58,157,236 (GRCm39)		probably null	Het
Lrcol1	A	G	5: 110,502,073 (GRCm39)	S49G	probably damaging	Het
Magi3	A	G	3: 103,992,560 (GRCm39)	M304T	probably damaging	Het
Med13l	T	C	5: 118,731,587 (GRCm39)	W88R	probably damaging	Het
Nfatc1	A	G	18: 80,710,257 (GRCm39)	V503A	probably damaging	Het
Ntm	C	A	9: 29,322,886 (GRCm39)	V45L	probably benign	Het
Or4c100	A	G	2: 88,356,767 (GRCm39)	N280S	probably damaging	Het
Or4f60	T	A	2: 111,902,266 (GRCm39)	I221L	probably benign	Het
Or4p22	T	A	2: 88,317,270 (GRCm39)	S65T	possibly damaging	Het
Or5b116	A	G	19: 13,422,526 (GRCm39)	D50G	probably damaging	Het
Or7a40	T	C	16: 16,490,967 (GRCm39)	R293G	probably damaging	Het
Pias4	T	C	10: 80,993,332 (GRCm39)	Q197R	probably damaging	Het
Pkhd1	T	A	1: 20,628,895 (GRCm39)	H684L	probably damaging	Het
Prr5	A	C	15: 84,651,415 (GRCm39)	I288L	possibly damaging	Het
Psmb3	T	A	11: 97,603,336 (GRCm39)	M183K	probably damaging	Het
Rasal1	T	C	5: 120,808,383 (GRCm39)	F472L	possibly damaging	Het
Rpl3	A	T	15: 79,964,061 (GRCm39)		probably benign	Het
Scin	A	T	12: 40,113,256 (GRCm39)	D538E	probably benign	Het
Sdhb	T	C	4: 140,701,038 (GRCm39)	S165P	probably benign	Het
Slc43a2	C	A	11: 75,436,577 (GRCm39)		probably null	Het
Speer4c2	C	A	5: 15,861,884 (GRCm39)		probably benign	Het
Tcf25	A	G	8: 124,119,975 (GRCm39)	E382G	possibly damaging	Het
Tmx3	G	A	18: 90,529,458 (GRCm39)		probably null	Het
Trim24	C	T	6: 37,922,548 (GRCm39)	P452S	probably benign	Het
Vsig10	T	A	5: 117,476,379 (GRCm39)	W278R	probably damaging	Het

Other mutations in Sparc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01768:Sparc	APN	11	55,296,069 (GRCm39)	missense	probably damaging	0.99
R1711:Sparc	UTSW	11	55,286,602 (GRCm39)	splice site	probably null
R1840:Sparc	UTSW	11	55,286,692 (GRCm39)	missense	probably damaging	1.00
R1859:Sparc	UTSW	11	55,297,334 (GRCm39)	critical splice donor site	probably null
R2172:Sparc	UTSW	11	55,286,627 (GRCm39)	nonsense	probably null
R4588:Sparc	UTSW	11	55,296,062 (GRCm39)	missense	probably benign	0.00
R4860:Sparc	UTSW	11	55,290,037 (GRCm39)	missense	possibly damaging	0.92
R4860:Sparc	UTSW	11	55,290,037 (GRCm39)	missense	possibly damaging	0.92
R7748:Sparc	UTSW	11	55,289,426 (GRCm39)	missense	probably benign	0.01
R7803:Sparc	UTSW	11	55,300,797 (GRCm39)	missense	probably damaging	0.99
R8683:Sparc	UTSW	11	55,292,783 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-02-04