Mutagenetix > Incidental Mutation

Incidental Mutation 'R5000:Spock3'

389832

Institutional Source

Beutler Lab

Gene Symbol

Spock3

Ensembl Gene

ENSMUSG00000054162

Gene Name

sparc/osteonectin, cwcv and kazal-like domains proteoglycan 3

Synonyms

testican 3, 2900045C01Rik

MMRRC Submission

042594-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5000 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

63404043-63810137 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 63698158 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 167 (V167A)

Ref Sequence

ENSEMBL: ENSMUSP00000113797 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093480] [ENSMUST00000117377] [ENSMUST00000118003] [ENSMUST00000119068]

AlphaFold

Q8BKV0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000093480
AA Change: V170A

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000091192
Gene: ENSMUSG00000054162
AA Change: V170A

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
KAZAL	138	183	2.74e-11	SMART
Pfam:SPARC_Ca_bdg	198	308	8.5e-35	PFAM
TY	338	384	2.27e-17	SMART
low complexity region	403	434	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000117377
AA Change: V167A

PolyPhen 2 Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000113797
Gene: ENSMUSG00000054162
AA Change: V167A

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
KAZAL	135	180	2.74e-11	SMART
Pfam:SPARC_Ca_bdg	195	305	5e-35	PFAM
TY	335	381	2.27e-17	SMART
low complexity region	400	431	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000118003
AA Change: V170A

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000113683
Gene: ENSMUSG00000054162
AA Change: V170A

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
KAZAL	138	183	2.74e-11	SMART
Pfam:SPARC_Ca_bdg	198	308	1.1e-36	PFAM
TY	338	384	2.27e-17	SMART
low complexity region	403	434	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000119068
AA Change: V170A

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112930
Gene: ENSMUSG00000054162
AA Change: V170A

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
KAZAL	138	183	2.74e-11	SMART
Pfam:SPARC_Ca_bdg	198	308	8.5e-35	PFAM
TY	338	384	2.27e-17	SMART
low complexity region	403	434	N/A	INTRINSIC

Meta Mutation Damage Score

0.0905

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

98% (97/99)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a novel family of calcium-binding proteoglycan proteins that contain thyroglobulin type-1 and Kazal-like domains. The encoded protein and may play a role in adult T-cell leukemia by inhibiting the activity of membrane-type matrix metalloproteinases. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit no obvious morphological or behavioral abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	T	A	7: 27,255,946 (GRCm39)	F11Y	probably benign	Het
Abca5	A	G	11: 110,201,050 (GRCm39)	L450P	probably damaging	Het
Abi1	T	A	2: 22,840,211 (GRCm39)	R357W	probably damaging	Het
Acot7	G	A	4: 152,270,820 (GRCm39)	G55R	probably benign	Het
Aicda	G	A	6: 122,538,826 (GRCm39)	V14I	probably damaging	Het
Anxa4	G	T	6: 86,742,766 (GRCm39)		probably benign	Het
Apobr	T	A	7: 126,185,729 (GRCm39)	D413E	possibly damaging	Het
Ash1l	T	C	3: 88,965,941 (GRCm39)	Y2448H	probably damaging	Het
Atf7ip	A	G	6: 136,559,426 (GRCm39)	E749G	probably damaging	Het
Atp8b3	A	T	10: 80,357,676 (GRCm39)	N1114K	possibly damaging	Het
Bdnf	C	A	2: 109,553,993 (GRCm39)	N122K	probably benign	Het
Boc	A	T	16: 44,310,517 (GRCm39)	I801N	probably damaging	Het
Brap	A	T	5: 121,800,089 (GRCm39)	K37*	probably null	Het
Ccar1	C	T	10: 62,586,784 (GRCm39)	E885K	unknown	Het
Ccdc103	A	G	11: 102,774,932 (GRCm39)	N177S	probably benign	Het
Ccdc116	G	A	16: 16,959,657 (GRCm39)	P344L	possibly damaging	Het
Cdca5	T	C	19: 6,135,463 (GRCm39)	S28P	possibly damaging	Het
Ceacam20	T	C	7: 19,699,453 (GRCm39)	I14T	probably damaging	Het
Chrnb1	A	T	11: 69,677,858 (GRCm39)	V298E	probably damaging	Het
Cnksr3	G	A	10: 7,076,746 (GRCm39)	Q149*	probably null	Het
Csnk1a1	T	C	18: 61,711,840 (GRCm39)	F97L	probably damaging	Het
Dag1	A	T	9: 108,085,216 (GRCm39)	S642T	probably benign	Het
Dedd2	A	G	7: 24,903,068 (GRCm39)	V297A	possibly damaging	Het
Dhcr7	C	T	7: 143,395,060 (GRCm39)	T189M	possibly damaging	Het
Dlgap1	T	C	17: 71,073,053 (GRCm39)	S691P	probably damaging	Het
Dmgdh	A	C	13: 93,825,046 (GRCm39)	H123P	probably damaging	Het
Dnah6	C	T	6: 73,121,798 (GRCm39)	V1395I	probably benign	Het
Dnah7a	T	C	1: 53,606,201 (GRCm39)	Y1273C	probably damaging	Het
Dnah7b	T	A	1: 46,138,663 (GRCm39)	L235*	probably null	Het
Elac2	T	C	11: 64,876,379 (GRCm39)	F3L	probably benign	Het
Elovl7	A	T	13: 108,410,915 (GRCm39)	K163N	probably benign	Het
Epg5	T	C	18: 77,997,376 (GRCm39)	V413A	probably benign	Het
Espl1	T	A	15: 102,206,986 (GRCm39)	L150Q	probably damaging	Het
F2rl3	T	A	8: 73,489,307 (GRCm39)	L178Q	probably damaging	Het
Fam120a	T	C	13: 49,051,143 (GRCm39)	E754G	probably damaging	Het
Fam53b	T	C	7: 132,317,730 (GRCm39)	N304S	probably benign	Het
Fbxo41	T	C	6: 85,460,901 (GRCm39)	E269G	probably damaging	Het
Fcrla	T	C	1: 170,749,959 (GRCm39)	T4A	probably benign	Het
Frmpd1	A	T	4: 45,261,931 (GRCm39)		probably null	Het
Gm9376	A	G	14: 118,504,702 (GRCm39)	M45V	probably benign	Het
Gpr68	G	A	12: 100,844,596 (GRCm39)	A316V	probably benign	Het
Hmgcl	G	A	4: 135,689,511 (GRCm39)	C323Y	probably benign	Het
Hnrnpu	T	C	1: 178,156,941 (GRCm39)		probably benign	Het
Ier2	T	A	8: 85,389,353 (GRCm39)	I10F	probably damaging	Het
Ip6k1	C	T	9: 107,922,798 (GRCm39)	Q234*	probably null	Het
Llgl2	T	C	11: 115,735,728 (GRCm39)	V108A	probably benign	Het
Lrfn3	T	C	7: 30,059,805 (GRCm39)	N140S	possibly damaging	Het
Lrig1	T	A	6: 94,588,430 (GRCm39)	H573L	probably damaging	Het
Lrrk2	T	A	15: 91,634,081 (GRCm39)	W1393R	probably damaging	Het
Mrc1	T	A	2: 14,249,000 (GRCm39)	Y179N	probably damaging	Het
Mtfr1	C	T	3: 19,265,743 (GRCm39)	L93F	probably damaging	Het
Muc19	T	C	15: 91,757,429 (GRCm39)		noncoding transcript	Het
Ndst2	C	T	14: 20,774,975 (GRCm39)		probably null	Het
Nmd3	A	T	3: 69,624,735 (GRCm39)		probably benign	Het
Nsd3	A	G	8: 26,172,593 (GRCm39)	Y784C	probably damaging	Het
Or4a27	A	T	2: 88,559,910 (GRCm39)	I11N	probably damaging	Het
Or7a36	G	A	10: 78,820,514 (GRCm39)	V297I	probably benign	Het
Papln	A	G	12: 83,821,663 (GRCm39)	Y297C	probably damaging	Het
Pdhx	T	C	2: 102,871,385 (GRCm39)		probably null	Het
Pdpk1	T	C	17: 24,330,019 (GRCm39)	T6A	possibly damaging	Het
Prcp	T	C	7: 92,568,368 (GRCm39)	W267R	probably damaging	Het
Prg2	T	C	2: 84,812,367 (GRCm39)	S26P	probably benign	Het
Psg26	A	T	7: 18,214,057 (GRCm39)	Y202N	possibly damaging	Het
Psrc1	T	C	3: 108,287,839 (GRCm39)		probably benign	Het
Rap1gds1	A	T	3: 138,662,011 (GRCm39)	M366K	probably damaging	Het
Robo4	G	T	9: 37,319,664 (GRCm39)	R527L	probably benign	Het
Sel1l3	G	A	5: 53,357,776 (GRCm39)	T72M	probably damaging	Het
Selenoo	G	A	15: 88,978,387 (GRCm39)	R270H	probably damaging	Het
Sema3d	A	G	5: 12,498,005 (GRCm39)	T4A	probably benign	Het
Shroom1	A	T	11: 53,357,944 (GRCm39)		probably benign	Het
Slc25a19	T	C	11: 115,507,497 (GRCm39)		probably null	Het
Snx29	A	C	16: 11,221,371 (GRCm39)	I266L	probably damaging	Het
Spo11	T	C	2: 172,831,193 (GRCm39)	S255P	probably damaging	Het
Tmc7	A	G	7: 118,158,077 (GRCm39)		probably null	Het
Tmtc4	A	G	14: 123,170,743 (GRCm39)	V509A	possibly damaging	Het
Trim24	A	G	6: 37,935,547 (GRCm39)	D880G	probably benign	Het
Ube2j2	G	A	4: 156,030,841 (GRCm39)	M1I	probably null	Het
Ubr4	T	A	4: 139,163,480 (GRCm39)	C2627S	probably damaging	Het
Unc5d	A	T	8: 29,205,775 (GRCm39)	M512K	possibly damaging	Het
Usp18	A	G	6: 121,229,479 (GRCm39)	R33G	possibly damaging	Het
Utp23	T	A	15: 51,745,569 (GRCm39)	V23D	probably damaging	Het
Wdr17	T	A	8: 55,118,161 (GRCm39)	M512L	possibly damaging	Het
Wdr64	T	A	1: 175,553,941 (GRCm39)		probably null	Het
Zbtb6	T	C	2: 37,319,251 (GRCm39)	T226A	probably benign	Het
Zc3hc1	T	A	6: 30,375,987 (GRCm39)	H191L	possibly damaging	Het
Zdhhc4	C	A	5: 143,310,688 (GRCm39)	C48F	probably damaging	Het
Zfp335	T	A	2: 164,736,588 (GRCm39)	T1016S	probably benign	Het
Zfp583	A	G	7: 6,328,473 (GRCm39)	Y39H	probably damaging	Het

Other mutations in Spock3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01093:Spock3	APN	8	63,801,993 (GRCm39)	missense	probably benign	0.01
IGL01716:Spock3	APN	8	63,808,384 (GRCm39)	missense	unknown
IGL02058:Spock3	APN	8	63,698,232 (GRCm39)	nonsense	probably null
IGL02450:Spock3	APN	8	63,698,249 (GRCm39)	critical splice donor site	probably null
IGL02610:Spock3	APN	8	63,798,771 (GRCm39)	missense	probably damaging	1.00
IGL03046:Spock3	UTSW	8	63,802,018 (GRCm39)	critical splice donor site	probably null
R0044:Spock3	UTSW	8	63,597,041 (GRCm39)	missense	possibly damaging	0.90
R0044:Spock3	UTSW	8	63,597,041 (GRCm39)	missense	possibly damaging	0.90
R0084:Spock3	UTSW	8	63,596,963 (GRCm39)	missense	probably damaging	1.00
R1422:Spock3	UTSW	8	63,597,023 (GRCm39)	missense	possibly damaging	0.89
R1469:Spock3	UTSW	8	63,404,934 (GRCm39)	missense	probably damaging	0.99
R1469:Spock3	UTSW	8	63,404,934 (GRCm39)	missense	probably damaging	0.99
R1484:Spock3	UTSW	8	63,673,739 (GRCm39)	missense	probably damaging	1.00
R1728:Spock3	UTSW	8	63,802,011 (GRCm39)	missense	probably damaging	0.99
R1729:Spock3	UTSW	8	63,802,011 (GRCm39)	missense	probably damaging	0.99
R1739:Spock3	UTSW	8	63,801,981 (GRCm39)	missense	probably damaging	0.99
R2057:Spock3	UTSW	8	63,698,204 (GRCm39)	nonsense	probably null
R2340:Spock3	UTSW	8	63,798,747 (GRCm39)	missense	probably damaging	1.00
R3732:Spock3	UTSW	8	63,798,733 (GRCm39)	missense	probably damaging	1.00
R3732:Spock3	UTSW	8	63,798,733 (GRCm39)	missense	probably damaging	1.00
R3733:Spock3	UTSW	8	63,798,733 (GRCm39)	missense	probably damaging	1.00
R3763:Spock3	UTSW	8	63,597,049 (GRCm39)	critical splice donor site	probably null
R5069:Spock3	UTSW	8	63,808,299 (GRCm39)	missense	probably benign	0.01
R5076:Spock3	UTSW	8	63,798,889 (GRCm39)	missense	probably damaging	1.00
R5232:Spock3	UTSW	8	63,798,843 (GRCm39)	missense	probably damaging	1.00
R5329:Spock3	UTSW	8	63,798,816 (GRCm39)	missense	probably damaging	1.00
R5621:Spock3	UTSW	8	63,597,040 (GRCm39)	missense	probably benign	0.19
R5882:Spock3	UTSW	8	63,596,965 (GRCm39)	missense	probably benign	0.03
R5888:Spock3	UTSW	8	63,808,334 (GRCm39)	missense	unknown
R5902:Spock3	UTSW	8	63,808,336 (GRCm39)	missense	unknown
R6991:Spock3	UTSW	8	63,808,415 (GRCm39)	makesense	probably null
R7317:Spock3	UTSW	8	63,566,590 (GRCm39)	missense	possibly damaging	0.52
R7970:Spock3	UTSW	8	63,798,749 (GRCm39)	missense	probably damaging	1.00
R8030:Spock3	UTSW	8	63,805,232 (GRCm39)	missense	probably damaging	1.00
R8392:Spock3	UTSW	8	63,808,345 (GRCm39)	missense	unknown
R8889:Spock3	UTSW	8	63,404,986 (GRCm39)	nonsense	probably null
R8892:Spock3	UTSW	8	63,404,986 (GRCm39)	nonsense	probably null
R9065:Spock3	UTSW	8	63,801,989 (GRCm39)	missense	probably damaging	0.98
R9199:Spock3	UTSW	8	63,798,764 (GRCm39)	missense	probably damaging	1.00
R9377:Spock3	UTSW	8	63,798,746 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CCCCTGAGTAACTACAGTACTGC -3'
(R):5'- GCTCCTAGTTATAACAGCAAATTCC -3'

Sequencing Primer
(F):5'- CTGAGTAACTACAGTACTGCTCTGAC -3'
(R):5'- GAGTGGATTGAACATAGAGC -3'

Posted On

2016-06-06