Mutagenetix > Incidental Mutation

Incidental Mutation 'R0393:Spock1'

31815

Institutional Source

Beutler Lab

Gene Symbol

Spock1

Ensembl Gene

ENSMUSG00000056222

Gene Name

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

Synonyms

testican 1, Ticn1

MMRRC Submission

038599-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0393 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

57569008-58056146 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 57588349 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 241 (D241G)

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 damaging
Transcript: ENSMUST00000172326
AA Change: D238G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000128840
Gene: ENSMUSG00000056222
AA Change: D238G

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 damaging
Transcript: ENSMUST00000185502
AA Change: D241G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140409
Gene: ENSMUSG00000056222
AA Change: D241G

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 damaging
Transcript: ENSMUST00000185905
AA Change: D238G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000186271
AA Change: D238G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000140755
Gene: ENSMUSG00000056222
AA Change: D238G

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 damaging
Transcript: ENSMUST00000187852
AA Change: D238G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000141130
Gene: ENSMUSG00000056222
AA Change: D238G

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 damaging
Transcript: ENSMUST00000189373
AA Change: D241G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000139863
Gene: ENSMUSG00000056222
AA Change: D241G

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

Meta Mutation Damage Score

0.6397

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.3%
20x: 92.9%

Validation Efficiency

100% (59/59)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	C	T	6: 142,591,604 (GRCm39)		probably benign	Het
Akr1b7	T	G	6: 34,392,335 (GRCm39)	Y49*	probably null	Het
Ankrd10	G	T	8: 11,685,482 (GRCm39)	R46S	possibly damaging	Het
Atp13a5	A	G	16: 29,085,681 (GRCm39)		probably benign	Het
Baz1a	A	G	12: 54,965,221 (GRCm39)		probably null	Het
Bicd2	C	T	13: 49,533,346 (GRCm39)	T644M	probably damaging	Het
Ccr9	A	T	9: 123,609,035 (GRCm39)	H239L	probably benign	Het
Cd180	A	T	13: 102,842,408 (GRCm39)	N485Y	probably damaging	Het
Ces1d	T	A	8: 93,919,400 (GRCm39)	S131C	probably damaging	Het
Cnpy2	T	A	10: 128,162,076 (GRCm39)	S116R	probably benign	Het
Crym	T	C	7: 119,788,972 (GRCm39)	K285R	probably benign	Het
Cyp2a4	A	T	7: 26,012,293 (GRCm39)	I359F	possibly damaging	Het
Cyp2b10	T	A	7: 25,614,359 (GRCm39)		probably benign	Het
Dcpp3	A	T	17: 24,136,925 (GRCm39)		probably benign	Het
Dnah8	T	A	17: 30,927,364 (GRCm39)	I1340K	probably benign	Het
Fbln1	T	C	15: 85,111,277 (GRCm39)	C144R	probably damaging	Het
Gm1553	T	C	10: 82,328,010 (GRCm39)	R66G	unknown	Het
Il10rb	G	A	16: 91,208,898 (GRCm39)	V103I	probably benign	Het
Irak1bp1	T	A	9: 82,728,614 (GRCm39)	W182R	probably benign	Het
Kcna3	T	C	3: 106,944,315 (GRCm39)	S193P	probably damaging	Het
Kif14	C	T	1: 136,410,156 (GRCm39)	H628Y	probably damaging	Het
Krt31	A	G	11: 99,941,079 (GRCm39)	L77P	probably damaging	Het
Krt36	C	T	11: 99,994,940 (GRCm39)	A211T	possibly damaging	Het
L3mbtl2	C	T	15: 81,552,942 (GRCm39)	A125V	probably damaging	Het
Lmo7	A	G	14: 102,137,892 (GRCm39)	T743A	probably benign	Het
Lyst	C	T	13: 13,821,664 (GRCm39)	T1346M	probably benign	Het
Mapkbp1	T	A	2: 119,843,384 (GRCm39)		probably null	Het
Mif	T	C	10: 75,695,638 (GRCm39)	D55G	probably benign	Het
Mlh3	G	T	12: 85,314,361 (GRCm39)	C608*	probably null	Het
Mlip	A	T	9: 77,146,859 (GRCm39)	C85S	probably benign	Het
Mug1	T	C	6: 121,826,809 (GRCm39)	S211P	possibly damaging	Het
Mybl2	T	A	2: 162,903,528 (GRCm39)		probably benign	Het
Myh8	C	T	11: 67,196,843 (GRCm39)		probably benign	Het
Nanos1	A	G	19: 60,745,368 (GRCm39)	Y222C	probably damaging	Het
Or10ag52	A	T	2: 87,044,037 (GRCm39)	Y267F	probably benign	Het
Or2n1e	G	T	17: 38,585,774 (GRCm39)	M37I	probably benign	Het
Or5d16	T	C	2: 87,773,909 (GRCm39)	D21G	possibly damaging	Het
Papolb	A	G	5: 142,515,211 (GRCm39)	V144A	probably damaging	Het
Pctp	A	G	11: 89,876,945 (GRCm39)	S185P	probably benign	Het
Plod1	A	T	4: 148,003,298 (GRCm39)	L509Q	probably null	Het
Ppp1r13b	C	A	12: 111,802,122 (GRCm39)	M290I	probably benign	Het
Ralb	G	C	1: 119,405,856 (GRCm39)		probably null	Het
Rxylt1	T	C	10: 121,931,841 (GRCm39)		probably benign	Het
Slc4a8	T	A	15: 100,672,519 (GRCm39)	D18E	probably damaging	Het
Speg	A	C	1: 75,400,568 (GRCm39)	H2576P	possibly damaging	Het
Tcam1	T	A	11: 106,175,040 (GRCm39)	V165E	probably benign	Het
Thbs1	T	A	2: 117,943,472 (GRCm39)	V30E	possibly damaging	Het
Tll2	A	G	19: 41,077,265 (GRCm39)	Y834H	possibly damaging	Het
Trpm6	G	A	19: 18,756,008 (GRCm39)	D84N	probably damaging	Het
Ubr1	T	A	2: 120,737,427 (GRCm39)	Q1039L	probably damaging	Het
Ubr4	A	G	4: 139,138,171 (GRCm39)		probably benign	Het
Vmn1r74	T	C	7: 11,581,242 (GRCm39)	Y181H	possibly damaging	Het
Vmn2r13	T	C	5: 109,304,395 (GRCm39)	T679A	probably benign	Het
Vmn2r91	A	T	17: 18,325,712 (GRCm39)	Y110F	probably damaging	Het
Zbtb40	A	C	4: 136,745,842 (GRCm39)	S64A	probably benign	Het
Zfp184	T	A	13: 22,131,252 (GRCm39)		probably benign	Het

Other mutations in Spock1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00095:Spock1	APN	13	57,735,552 (GRCm39)	splice site	probably benign
IGL00491:Spock1	APN	13	57,704,619 (GRCm39)	missense	possibly damaging	0.67
IGL01942:Spock1	APN	13	57,578,141 (GRCm39)	missense	probably damaging	1.00
IGL01998:Spock1	APN	13	57,583,994 (GRCm39)	splice site	probably benign
IGL02428:Spock1	APN	13	57,592,245 (GRCm39)	splice site	probably benign
IGL02805:Spock1	APN	13	58,055,391 (GRCm39)	missense	possibly damaging	0.46
IGL02814:Spock1	APN	13	57,735,486 (GRCm39)	missense	probably damaging	1.00
IGL03307:Spock1	APN	13	57,577,160 (GRCm39)	missense	probably null	1.00
R0227:Spock1	UTSW	13	57,588,290 (GRCm39)	missense	possibly damaging	0.86
R0243:Spock1	UTSW	13	57,583,922 (GRCm39)	critical splice donor site	probably null
R1298:Spock1	UTSW	13	57,660,563 (GRCm39)	missense	probably benign	0.00
R1393:Spock1	UTSW	13	58,055,268 (GRCm39)	missense	probably damaging	1.00
R1467:Spock1	UTSW	13	57,577,182 (GRCm39)	missense	possibly damaging	0.53
R1467:Spock1	UTSW	13	57,577,182 (GRCm39)	missense	possibly damaging	0.53
R2134:Spock1	UTSW	13	57,583,952 (GRCm39)	missense	probably damaging	0.99
R4386:Spock1	UTSW	13	57,588,263 (GRCm39)	missense	probably damaging	1.00
R5524:Spock1	UTSW	13	57,704,608 (GRCm39)	missense	probably damaging	1.00
R5765:Spock1	UTSW	13	57,577,217 (GRCm39)	missense	probably benign	0.19
R7195:Spock1	UTSW	13	58,055,316 (GRCm39)	missense	possibly damaging	0.92
R7446:Spock1	UTSW	13	57,583,898 (GRCm39)	missense	unknown
R7701:Spock1	UTSW	13	57,735,472 (GRCm39)	nonsense	probably null
R8067:Spock1	UTSW	13	57,843,984 (GRCm39)	splice site	probably null
R8256:Spock1	UTSW	13	57,588,257 (GRCm39)	missense	probably damaging	0.97
R8990:Spock1	UTSW	13	57,843,984 (GRCm39)	splice site	probably null
R9085:Spock1	UTSW	13	57,570,956 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ACGAGTTGAAGAGAGGCTTGATGC -3'
(R):5'- GTTGGCTCTTGCCTTTAGGACATTTGTA -3'

Sequencing Primer
(F):5'- GATGCAGGGCTCATATTTGTC -3'
(R):5'- ggaagaggagggggagaag -3'

Posted On

2013-04-24