Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02805:Spock1'

360396

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02805

Quality Score

Status

Chromosome

Chromosomal Location

57421195-57908332 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 57907577 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 4 (I4T)

Ref Sequence

ENSEMBL: ENSMUSP00000153001 (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
AA Change: I4T

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000128840
Gene: ENSMUSG00000056222
AA Change: I4T

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
AA Change: I4T

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000140409
Gene: ENSMUSG00000056222
AA Change: I4T

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

possibly damaging
Transcript: ENSMUST00000185905
AA Change: I4T

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000186271
AA Change: I4T

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000140755
Gene: ENSMUSG00000056222
AA Change: I4T

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
AA Change: I4T

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000141130
Gene: ENSMUSG00000056222
AA Change: I4T

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
AA Change: I4T

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000139863
Gene: ENSMUSG00000056222
AA Change: I4T

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
Acaca	T	C	11: 84,223,133		probably benign	Het
Ankdd1b	A	G	13: 96,444,302	S163P	probably benign	Het
Ap5z1	G	A	5: 142,470,283		probably benign	Het
Asb14	A	G	14: 26,901,187	N172S	possibly damaging	Het
Avil	G	A	10: 127,007,617	V139I	possibly damaging	Het
C130073F10Rik	A	T	4: 101,890,974	M1K	probably null	Het
Ccdc189	T	C	7: 127,586,394	D121G	possibly damaging	Het
Ccdc33	T	A	9: 58,098,591	I37F	probably benign	Het
Ccdc9	T	C	7: 16,275,274	M550V	probably benign	Het
Cgn	T	A	3: 94,774,377	L469F	probably damaging	Het
Dnaaf3	C	T	7: 4,523,705	G458R	possibly damaging	Het
Dscaml1	T	A	9: 45,447,897	N151K	probably damaging	Het
Dsel	A	G	1: 111,862,316	V163A	probably damaging	Het
Dusp27	T	C	1: 166,099,061	E994G	probably damaging	Het
Epg5	A	G	18: 78,030,191		probably benign	Het
Fanca	A	T	8: 123,289,494	I670N	probably damaging	Het
Fsip2	T	C	2: 82,993,495	V6524A	probably benign	Het
Gm10985	T	C	3: 53,845,093		probably null	Het
Gm1818	C	T	12: 48,555,735		noncoding transcript	Het
Hars2	C	T	18: 36,787,577	R158*	probably null	Het
Htr5b	A	G	1: 121,527,888	V101A	probably damaging	Het
Ipp	A	G	4: 116,529,688	I356V	possibly damaging	Het
Itga8	T	A	2: 12,189,480	N703I	possibly damaging	Het
Olfr147	T	A	9: 38,403,836		probably benign	Het
Ppp6r3	T	C	19: 3,492,428	N406D	probably benign	Het
Rbbp6	G	A	7: 123,001,188		probably benign	Het
Rgs7	T	C	1: 175,149,696	Y114C	probably damaging	Het
Ripor1	A	G	8: 105,617,571	T446A	probably damaging	Het
Rnf213	A	G	11: 119,435,066	D1562G	probably damaging	Het
Scaf11	A	T	15: 96,420,182	D500E	possibly damaging	Het
Srebf2	C	A	15: 82,169,844	N35K	probably benign	Het
Srgap3	G	T	6: 112,727,263	H922N	probably damaging	Het
Stk32c	A	C	7: 139,121,846	H112Q	probably damaging	Het
Thumpd3	A	G	6: 113,066,797	D391G	probably damaging	Het
Vmn2r38	T	A	7: 9,075,547	H612L	probably damaging	Het
Vsig10l	T	G	7: 43,465,242	I289S	probably damaging	Het
Wwox	G	A	8: 114,712,013	G273E	probably damaging	Het
Zscan4d	T	G	7: 11,164,970		probably benign	Het

Other mutations in Spock1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00095:Spock1	APN	13	57587739	splice site	probably benign
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
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
R8990:Spock1	UTSW	13	57696171	splice site	probably null
R9085:Spock1	UTSW	13	57423143	missense	unknown

Posted On

2015-12-18