Mutagenetix > Incidental Mutation

Incidental Mutation 'R7446:Spock1'

577315

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

045522-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7446 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57569008-58056146 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 57583898 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 339 (I339T)

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

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

unknown
Transcript: ENSMUST00000185905
AA Change: I339T

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

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (67/67)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	A	G	15: 81,950,441 (GRCm39)	D1446G	probably benign	Het
Adgrg1	A	G	8: 95,738,412 (GRCm39)	Y635C	probably damaging	Het
Akr1cl	G	A	1: 65,055,837 (GRCm39)	R222W	probably damaging	Het
C2	G	A	17: 35,094,986 (GRCm39)	R250C	probably damaging	Het
Cdk15	A	G	1: 59,328,854 (GRCm39)	Y254C	probably damaging	Het
Celsr1	T	C	15: 85,791,874 (GRCm39)	T2576A	possibly damaging	Het
Cfap61	C	T	2: 145,995,758 (GRCm39)	R1108C	probably benign	Het
Clca3a1	A	G	3: 144,733,188 (GRCm39)	S107P	possibly damaging	Het
Cplane1	A	G	15: 8,261,564 (GRCm39)	D2460G	probably damaging	Het
Cpsf1	A	G	15: 76,485,950 (GRCm39)	S407P	probably benign	Het
Crisp4	T	C	1: 18,192,962 (GRCm39)	T252A	probably damaging	Het
Ctbs	A	G	3: 146,164,573 (GRCm39)	Y242C	probably damaging	Het
Cul4a	A	G	8: 13,186,874 (GRCm39)	T537A	probably benign	Het
D930020B18Rik	T	C	10: 121,503,650 (GRCm39)	I275T	possibly damaging	Het
Dcaf7	T	C	11: 105,944,561 (GRCm39)	V248A	probably benign	Het
Def8	T	C	8: 124,181,061 (GRCm39)	C153R	probably damaging	Het
Dennd1a	A	T	2: 37,706,991 (GRCm39)	V505D	possibly damaging	Het
Dpysl5	A	C	5: 30,936,231 (GRCm39)	D207A	probably benign	Het
Dync2h1	A	T	9: 7,041,720 (GRCm39)	S3307R	probably benign	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Erf	A	T	7: 24,945,556 (GRCm39)	C72S	probably damaging	Het
Fastkd3	A	T	13: 68,740,079 (GRCm39)	H47L	unknown	Het
Gm5591	C	T	7: 38,218,933 (GRCm39)	E647K	probably benign	Het
Gng12	TGTCCAGCAAG	TG	6: 66,992,736 (GRCm39)		probably benign	Het
Guk1	T	C	11: 59,076,850 (GRCm39)	T78A	probably benign	Het
Hephl1	T	C	9: 15,009,347 (GRCm39)	T82A	probably damaging	Het
Htra4	A	G	8: 25,527,181 (GRCm39)	S205P	probably benign	Het
Jakmip2	T	C	18: 43,710,390 (GRCm39)	D271G	probably damaging	Het
Krt16	CAGTATCTG	C	11: 100,137,610 (GRCm39)		probably null	Het
Lrp1b	T	A	2: 41,561,069 (GRCm39)	E286V		Het
Lrp2	C	A	2: 69,262,557 (GRCm39)	G4415W	probably damaging	Het
Lrp2	C	T	2: 69,290,018 (GRCm39)	R3607H	probably damaging	Het
Mcph1	A	G	8: 18,721,109 (GRCm39)	K646E	probably benign	Het
Mgam	T	C	6: 40,723,266 (GRCm39)	L457P	probably damaging	Het
Mink1	T	A	11: 70,500,455 (GRCm39)	S802T	probably benign	Het
Mrgprb5	C	T	7: 47,818,252 (GRCm39)	G161E	possibly damaging	Het
Mroh1	G	A	15: 76,336,472 (GRCm39)	G1565D	possibly damaging	Het
Mynn	A	G	3: 30,661,201 (GRCm39)	K51R	probably benign	Het
Myo1b	A	G	1: 51,803,065 (GRCm39)	F872S	possibly damaging	Het
Nbas	A	T	12: 13,443,499 (GRCm39)	T1185S	probably benign	Het
Oas1d	A	T	5: 121,058,054 (GRCm39)	I333L	probably benign	Het
Or10ak9	A	T	4: 118,726,019 (GRCm39)	I14F	possibly damaging	Het
Or4d10	A	G	19: 12,051,061 (GRCm39)	*312Q	probably null	Het
P2ry12	A	G	3: 59,124,632 (GRCm39)	*348Q	probably null	Het
Pik3cb	A	T	9: 98,928,711 (GRCm39)	V848E	probably damaging	Het
Plcz1	A	C	6: 139,959,312 (GRCm39)	S282A	possibly damaging	Het
Prss46	A	G	9: 110,679,189 (GRCm39)	D130G	probably damaging	Het
Pygl	T	C	12: 70,243,784 (GRCm39)	I644V	probably benign	Het
Ralgds	T	A	2: 28,435,901 (GRCm39)	S509T	probably damaging	Het
Rdh16f2	A	G	10: 127,712,767 (GRCm39)	D255G	probably benign	Het
Scaf4	T	C	16: 90,055,658 (GRCm39)	D133G	unknown	Het
Sdk1	G	A	5: 142,130,731 (GRCm39)	S1630N	probably damaging	Het
Sema5b	C	T	16: 35,467,573 (GRCm39)	T279I	probably damaging	Het
Slc24a3	T	A	2: 145,422,902 (GRCm39)	L207H	probably damaging	Het
Speer2	A	T	16: 69,654,965 (GRCm39)	S167T	possibly damaging	Het
Srsf6	T	A	2: 162,776,636 (GRCm39)	S327T	unknown	Het
Syne1	T	A	10: 5,172,266 (GRCm39)	E5058D	probably benign	Het
Tcf19	A	G	17: 35,825,428 (GRCm39)	V243A	probably benign	Het
Tspan15	T	C	10: 62,029,734 (GRCm39)	D122G	probably benign	Het
Ttc17	C	T	2: 94,205,495 (GRCm39)	V284M	probably damaging	Het
Usp29	A	C	7: 6,964,219 (GRCm39)	T21P	possibly damaging	Het
Uspl1	T	A	5: 149,141,082 (GRCm39)	C360*	probably null	Het
Vmn1r181	A	C	7: 23,684,356 (GRCm39)	S274R	probably benign	Het
Xrcc5	T	C	1: 72,433,132 (GRCm39)		probably null	Het
Zfp277	C	T	12: 40,378,729 (GRCm39)	R376H	probably damaging	Het
Zfp629	T	C	7: 127,210,201 (GRCm39)	E536G	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
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
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'- ACATCCAGAATCAGAGCGGG -3'
(R):5'- TTGTACATCAAGAGCGGAGTC -3'

Sequencing Primer
(F):5'- TGCTAGACCCTCGCCCAAG -3'
(R):5'- CATCAAGAGCGGAGTCAATCATTAG -3'

Posted On

2019-10-07