Mutagenetix > Incidental Mutation

Incidental Mutation 'R5524:Spock1'

431771

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

043082-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5524 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

57569008-58056146 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 57704608 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 120 (G120D)

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 damaging
Transcript: ENSMUST00000172326
AA Change: G120D

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000128840
Gene: ENSMUSG00000056222
AA Change: G120D

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: G123D

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000140409
Gene: ENSMUSG00000056222
AA Change: G123D

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: G120D

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000186271
AA Change: G120D

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000140755
Gene: ENSMUSG00000056222
AA Change: G120D

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: G120D

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

SMART Domains

Protein: ENSMUSP00000141130
Gene: ENSMUSG00000056222
AA Change: G120D

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: G123D

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

SMART Domains

Protein: ENSMUSP00000139863
Gene: ENSMUSG00000056222
AA Change: G123D

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

0.6467

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.4%
20x: 91.4%

Validation Efficiency

100% (76/76)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010L04Rik	T	A	7: 82,503,150 (GRCm39)		noncoding transcript	Het
6030469F06Rik	A	G	12: 31,234,862 (GRCm39)		noncoding transcript	Het
A830031A19Rik	T	A	11: 24,008,776 (GRCm39)	I13F	unknown	Het
Acsbg2	A	C	17: 57,157,197 (GRCm39)	L309R	probably damaging	Het
Adam32	A	T	8: 25,412,328 (GRCm39)	M76K	probably damaging	Het
Adamts14	C	A	10: 61,066,222 (GRCm39)	R297L	probably damaging	Het
Agbl5	G	A	5: 31,051,247 (GRCm39)		probably null	Het
Asb14	A	G	14: 26,622,408 (GRCm39)	K80E	possibly damaging	Het
Baiap2l1	T	C	5: 144,217,759 (GRCm39)	T276A	probably benign	Het
Cacna1d	G	A	14: 29,764,086 (GRCm39)	P2127S	probably benign	Het
Ces2g	A	G	8: 105,693,527 (GRCm39)	T403A	probably benign	Het
Cgn	A	C	3: 94,687,299 (GRCm39)	M1R	probably null	Het
Chd5	T	G	4: 152,461,087 (GRCm39)	S1226A	probably benign	Het
Col18a1	A	G	10: 76,894,558 (GRCm39)	V1497A	probably damaging	Het
Cpd	A	T	11: 76,688,727 (GRCm39)	Y848*	probably null	Het
Cyp2a12	T	C	7: 26,730,656 (GRCm39)	V207A	probably benign	Het
Cyth1	G	A	11: 118,073,593 (GRCm39)	R247W	probably benign	Het
Derl3	T	C	10: 75,730,324 (GRCm39)	V129A	possibly damaging	Het
Ehmt2	C	T	17: 35,118,067 (GRCm39)	R40*	probably null	Het
Eml1	A	T	12: 108,487,635 (GRCm39)	I518L	probably damaging	Het
Eri1	A	G	8: 35,945,763 (GRCm39)	V174A	probably benign	Het
Fgd3	T	A	13: 49,431,053 (GRCm39)	I435F	probably damaging	Het
Foxd1	T	G	13: 98,492,412 (GRCm39)	S429A	unknown	Het
Ftcd	T	A	10: 76,425,165 (GRCm39)		probably benign	Het
Gm5478	G	T	15: 101,553,102 (GRCm39)	N323K	probably benign	Het
Gnpda1	G	T	18: 38,468,161 (GRCm39)	P45Q	probably damaging	Het
Kif20a	G	T	18: 34,763,678 (GRCm39)		probably null	Het
Klrb1	T	C	6: 128,689,296 (GRCm39)		probably null	Het
Lcorl	C	A	5: 45,932,864 (GRCm39)		probably null	Het
Lcorl	T	A	5: 45,932,865 (GRCm39)		probably null	Het
Lrp1b	T	A	2: 41,000,900 (GRCm39)	K2108M	probably damaging	Het
Lyst	C	T	13: 13,921,364 (GRCm39)	P3437S	probably benign	Het
Macrod2	A	T	2: 142,159,863 (GRCm39)	M349L	possibly damaging	Het
Marchf7	T	C	2: 60,075,647 (GRCm39)		probably benign	Het
Mcm9	A	T	10: 53,424,786 (GRCm39)	C601*	probably null	Het
Muc19	G	T	15: 91,778,587 (GRCm39)		noncoding transcript	Het
Mycbp2	T	C	14: 103,532,673 (GRCm39)	D427G	probably damaging	Het
Nap1l5	C	A	6: 58,883,763 (GRCm39)	V64L	possibly damaging	Het
Ncam2	C	T	16: 81,231,766 (GRCm39)	R77*	probably null	Het
Npas3	T	C	12: 54,115,721 (GRCm39)	V863A	possibly damaging	Het
Nr2c2	T	A	6: 92,116,746 (GRCm39)		probably null	Het
Oosp3	T	C	19: 11,682,794 (GRCm39)	F56S	possibly damaging	Het
Or1a1b	A	T	11: 74,097,409 (GRCm39)	L211Q	probably damaging	Het
Or5k17	C	T	16: 58,746,172 (GRCm39)	C254Y	probably benign	Het
Or8g20	C	T	9: 39,396,283 (GRCm39)	V89M	probably damaging	Het
Plgrkt	G	A	19: 29,327,850 (GRCm39)	P78S	probably damaging	Het
Prss36	G	A	7: 127,533,637 (GRCm39)	Q56*	probably null	Het
Ptprz1	A	G	6: 22,986,317 (GRCm39)		probably null	Het
Qsox2	A	T	2: 26,107,699 (GRCm39)	F265I	probably damaging	Het
R3hcc1l	G	T	19: 42,552,307 (GRCm39)	E435*	probably null	Het
Shbg	T	C	11: 69,507,588 (GRCm39)	D163G	probably benign	Het
Skint7	T	A	4: 111,837,546 (GRCm39)	L108H	probably damaging	Het
Smtnl1	T	A	2: 84,649,238 (GRCm39)	E5D	probably benign	Het
Stk11ip	G	T	1: 75,508,971 (GRCm39)	C700F	probably damaging	Het
Sult4a1	C	T	15: 83,974,159 (GRCm39)		probably null	Het
Syngap1	A	G	17: 27,176,126 (GRCm39)	H138R	probably damaging	Het
Tdrd7	A	G	4: 46,034,301 (GRCm39)	K1016E	probably benign	Het
Tmem167b	T	C	3: 108,467,569 (GRCm39)	K26E	possibly damaging	Het
Tnfaip3	A	G	10: 18,883,943 (GRCm39)	S146P	probably damaging	Het
Ttn	C	T	2: 76,607,060 (GRCm39)	V16242I	possibly damaging	Het
Vmn2r-ps3	T	A	3: 63,960,870 (GRCm39)		noncoding transcript	Het
Vps13c	T	C	9: 67,864,838 (GRCm39)	F3049S	probably damaging	Het
Vstm2l	T	C	2: 157,777,355 (GRCm39)	W78R	probably damaging	Het
Wbp1l	C	A	19: 46,642,695 (GRCm39)	A216D	possibly damaging	Het
Zer1	C	G	2: 29,994,866 (GRCm39)	V510L	probably damaging	Het
Zfp28	A	T	7: 6,397,850 (GRCm39)		probably null	Het
Zfp352	C	A	4: 90,113,341 (GRCm39)	P494T	possibly damaging	Het
Zfp353-ps	A	G	8: 42,535,600 (GRCm39)		noncoding transcript	Het
Zfp563	A	T	17: 33,321,515 (GRCm39)		probably null	Het
Zim1	T	C	7: 6,680,320 (GRCm39)	N448D	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
R0393:Spock1	UTSW	13	57,588,349 (GRCm39)	missense	probably damaging	1.00
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
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'- TCACAGAGCACAGAGATTTGAA -3'
(R):5'- CTTGGGCCTCTAACTGTCTTAC -3'

Sequencing Primer
(F):5'- TTTGAAAAACAGACCTGCAGTG -3'
(R):5'- ACTACGTGGGATCAGGATCATCTTC -3'

Posted On

2016-10-05