Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00095:Spock1'

1020

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Spock1

Ensembl Gene

ENSMUSG00000056222

Gene Name

sparc/osteonectin, cwcv and kazal-like domains proteoglycan 1

Synonyms

testican 1, Ticn1

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00095

Quality Score

Status

Chromosome

Chromosomal Location

57421195-57908332 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 57587739 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139863 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000172326] [ENSMUST00000185502] [ENSMUST00000185905] [ENSMUST00000186271] [ENSMUST00000187852] [ENSMUST00000189373]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000172326

SMART Domains

Protein: ENSMUSP00000128840
Gene: ENSMUSG00000056222

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
low complexity region	24	42	N/A	INTRINSIC
KAZAL	135	180	3.67e-12	SMART
Pfam:SPARC_Ca_bdg	195	304	6e-35	PFAM
TY	334	380	9.64e-21	SMART
low complexity region	394	404	N/A	INTRINSIC
low complexity region	422	434	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000185502

SMART Domains

Protein: ENSMUSP00000140409
Gene: ENSMUSG00000056222

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
low complexity region	24	42	N/A	INTRINSIC
KAZAL	138	183	3.67e-12	SMART
Pfam:SPARC_Ca_bdg	198	307	3.1e-33	PFAM
TY	337	383	9.64e-21	SMART
low complexity region	397	407	N/A	INTRINSIC
low complexity region	425	437	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000185905

Predicted Effect

probably benign
Transcript: ENSMUST00000186271

SMART Domains

Protein: ENSMUSP00000140755
Gene: ENSMUSG00000056222

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
low complexity region	24	42	N/A	INTRINSIC
KAZAL	135	180	3.67e-12	SMART
Pfam:SPARC_Ca_bdg	195	304	3.1e-33	PFAM
TY	334	380	9.64e-21	SMART
low complexity region	394	404	N/A	INTRINSIC
low complexity region	422	434	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000187852

SMART Domains

Protein: ENSMUSP00000141130
Gene: ENSMUSG00000056222

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
low complexity region	24	42	N/A	INTRINSIC
KAZAL	135	180	3.67e-12	SMART
Pfam:SPARC_Ca_bdg	195	304	2.2e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000189373

SMART Domains

Protein: ENSMUSP00000139863
Gene: ENSMUSG00000056222

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
low complexity region	24	42	N/A	INTRINSIC
KAZAL	138	183	3.67e-12	SMART
Pfam:SPARC_Ca_bdg	198	307	1.3e-33	PFAM

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 the protein core of a seminal plasma proteoglycan containing chondroitin- and heparan-sulfate chains. The protein's function is unknown, although similarity to thyropin-type cysteine protease-inhibitors suggests its function may be related to protease inhibition. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted null mutation display no obvious morphological or behavioral abnormalities, are fertile, and have normal life spans. Adult homozygotes exhibit normal brain morphology and EEG recordings. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cadm2	A	T	16: 66,882,751	Y65N	probably damaging	Het
Catsperg2	C	A	7: 29,698,058	C1042F	possibly damaging	Het
Cluh	T	C	11: 74,664,064	V776A	probably benign	Het
Crxos	T	A	7: 15,898,618	C116*	probably null	Het
Csmd1	A	G	8: 16,009,297		probably benign	Het
Cubn	C	A	2: 13,491,820		probably benign	Het
Exoc2	A	G	13: 30,820,626	I858T	probably benign	Het
Fam105a	A	G	15: 27,658,116	S273P	possibly damaging	Het
Frmpd1	C	A	4: 45,279,456	T727K	possibly damaging	Het
Gm3139	T	C	5: 94,537,804	L441P	probably damaging	Het
Hapln3	T	C	7: 79,121,983	T53A	probably damaging	Het
Hnrnpul1	T	A	7: 25,726,154	Q584L	possibly damaging	Het
Ikbkb	A	T	8: 22,706,111	F26I	probably damaging	Het
Il31ra	A	T	13: 112,547,478	I120N	possibly damaging	Het
Itih1	C	T	14: 30,929,821	V855M	probably benign	Het
Krtap4-16	A	G	11: 99,851,206	S123P	possibly damaging	Het
Large1	C	T	8: 72,837,497	R547Q	probably damaging	Het
Madd	A	G	2: 91,175,766		probably benign	Het
Mark1	A	G	1: 184,898,603	V770A	probably damaging	Het
Mpeg1	T	C	19: 12,462,710	F511L	probably benign	Het
Mrgpra9	A	G	7: 47,235,091	V276A	possibly damaging	Het
Nav3	T	C	10: 109,841,733	T666A	probably damaging	Het
Ndufa8	T	C	2: 36,044,455	D37G	probably damaging	Het
Nlrx1	A	G	9: 44,253,279	L956P	probably damaging	Het
Nr5a1	T	C	2: 38,708,341	E148G	probably benign	Het
Olfr310	T	C	7: 86,269,669	N40S	probably damaging	Het
Olfr509	A	T	7: 108,645,836	F247I	possibly damaging	Het
Patj	A	C	4: 98,535,562	Q1184P	possibly damaging	Het
Phf20l1	A	G	15: 66,629,035	T619A	probably benign	Het
Pla2g6	T	C	15: 79,289,241	T643A	probably damaging	Het
Radil	A	G	5: 142,497,922	S510P	probably damaging	Het
Stag3	C	T	5: 138,299,138	T577M	probably damaging	Het
Tap2	C	T	17: 34,215,378	R613C	probably benign	Het
Tnn	A	G	1: 160,125,451	V673A	possibly damaging	Het
Trrap	T	C	5: 144,779,974		probably benign	Het
Vmn2r28	T	C	7: 5,488,069	D393G	probably benign	Het
Zbtb48	T	C	4: 152,021,394	H418R	probably damaging	Het
Zc3h12d	T	C	10: 7,862,467	V179A	probably damaging	Het

Other mutations in Spock1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00491:Spock1	APN	13	57556806	missense	possibly damaging	0.67
IGL01942:Spock1	APN	13	57430328	missense	probably damaging	1.00
IGL01998:Spock1	APN	13	57436181	splice site	probably benign
IGL02428:Spock1	APN	13	57444432	splice site	probably benign
IGL02805:Spock1	APN	13	57907577	missense	possibly damaging	0.46
IGL02814:Spock1	APN	13	57587673	missense	probably damaging	1.00
IGL03307:Spock1	APN	13	57429347	missense	probably null	1.00
R0227:Spock1	UTSW	13	57440477	missense	possibly damaging	0.86
R0243:Spock1	UTSW	13	57436109	critical splice donor site	probably null
R0393:Spock1	UTSW	13	57440536	missense	probably damaging	1.00
R1298:Spock1	UTSW	13	57512750	missense	probably benign	0.00
R1393:Spock1	UTSW	13	57907454	missense	probably damaging	1.00
R1467:Spock1	UTSW	13	57429369	missense	possibly damaging	0.53
R1467:Spock1	UTSW	13	57429369	missense	possibly damaging	0.53
R2134:Spock1	UTSW	13	57436139	missense	probably damaging	0.99
R4386:Spock1	UTSW	13	57440450	missense	probably damaging	1.00
R5524:Spock1	UTSW	13	57556795	missense	probably damaging	1.00
R5765:Spock1	UTSW	13	57429404	missense	probably benign	0.19
R7195:Spock1	UTSW	13	57907502	missense	possibly damaging	0.92
R7446:Spock1	UTSW	13	57436085	missense	unknown
R7701:Spock1	UTSW	13	57587659	nonsense	probably null
R8067:Spock1	UTSW	13	57696171	splice site	probably null
R8256:Spock1	UTSW	13	57440444	missense	probably damaging	0.97
R9085:Spock1	UTSW	13	57423143	missense	unknown

Posted On

2011-07-12