Mutagenetix > Incidental Mutation

Incidental Mutation 'R2134:Spock1'

233663

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

040137-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2134 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57569008-58056146 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 57583952 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 321 (Q321L)

Ref Sequence

ENSEMBL: ENSMUSP00000140755 (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: Q321L

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000128840
Gene: ENSMUSG00000056222
AA Change: Q321L

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: Q324L

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000140409
Gene: ENSMUSG00000056222
AA Change: Q324L

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: Q321L

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000186271
AA Change: Q321L

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000140755
Gene: ENSMUSG00000056222
AA Change: Q321L

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: Q321L

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000141130
Gene: ENSMUSG00000056222
AA Change: Q321L

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: Q324L

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000139863
Gene: ENSMUSG00000056222
AA Change: Q324L

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: 99.3%
3x: 98.6%
10x: 97.3%
20x: 94.9%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	T	11: 109,921,743 (GRCm39)	V1437E	probably null	Het
Adam12	G	A	7: 133,614,017 (GRCm39)	R80*	probably null	Het
Adgrb3	G	T	1: 25,133,038 (GRCm39)	F479L	probably damaging	Het
Atf7ip	T	A	6: 136,582,485 (GRCm39)	V1165E	possibly damaging	Het
Atm	C	T	9: 53,379,264 (GRCm39)		probably null	Het
Atp11c	A	G	X: 59,322,143 (GRCm39)	Y593H	probably damaging	Het
Btnl1	A	G	17: 34,604,608 (GRCm39)	D463G	possibly damaging	Het
Cdc34b	T	G	11: 94,633,252 (GRCm39)	W151G	probably damaging	Het
Cdkal1	A	G	13: 29,538,660 (GRCm39)	S500P	possibly damaging	Het
Cenpf	T	C	1: 189,390,839 (GRCm39)	N998D	probably benign	Het
Ces2e	T	A	8: 105,659,171 (GRCm39)		probably null	Het
Chd7	A	G	4: 8,753,147 (GRCm39)	Q548R	probably damaging	Het
Chfr	T	A	5: 110,292,627 (GRCm39)		probably null	Het
Clu	A	G	14: 66,212,290 (GRCm39)		probably null	Het
Cntnap5c	A	G	17: 58,714,717 (GRCm39)	D1235G	probably damaging	Het
Col6a4	T	C	9: 105,943,860 (GRCm39)	S1205G	probably benign	Het
Ddx47	G	T	6: 134,992,313 (GRCm39)	E113*	probably null	Het
Dock4	A	G	12: 40,795,667 (GRCm39)	Y828C	probably benign	Het
Dync1h1	T	A	12: 110,623,065 (GRCm39)	N3553K	possibly damaging	Het
Egflam	C	T	15: 7,263,760 (GRCm39)	C730Y	probably damaging	Het
Fam83b	T	C	9: 76,398,298 (GRCm39)	Y935C	probably damaging	Het
Fam83g	A	G	11: 61,594,510 (GRCm39)	I681M	probably benign	Het
Fastk	T	C	5: 24,650,139 (GRCm39)	R3G	probably damaging	Het
Fxr1	A	T	3: 34,112,196 (GRCm39)	E367D	probably damaging	Het
Gatb	A	G	3: 85,518,677 (GRCm39)	D261G	probably damaging	Het
Gm5617	T	C	9: 48,407,117 (GRCm39)	S84P	possibly damaging	Het
Hecw1	C	T	13: 14,552,285 (GRCm39)	E104K	probably damaging	Het
Il31ra	T	C	13: 112,680,422 (GRCm39)	K265R	possibly damaging	Het
Khsrp	GTCATT	GT	17: 57,331,410 (GRCm39)		probably null	Het
Lrp2	T	A	2: 69,341,411 (GRCm39)	D923V	probably damaging	Het
Ltn1	A	G	16: 87,179,601 (GRCm39)	L1520P	probably damaging	Het
Magel2	G	A	7: 62,028,844 (GRCm39)	V583I	unknown	Het
Map1s	T	G	8: 71,366,526 (GRCm39)	V477G	probably benign	Het
Mical1	T	C	10: 41,358,708 (GRCm39)	L542P	probably damaging	Het
Mtcl3	T	A	10: 29,072,395 (GRCm39)	Y562*	probably null	Het
Mycbp2	T	C	14: 103,446,329 (GRCm39)	Y1800C	probably damaging	Het
Mylk	A	T	16: 34,806,846 (GRCm39)	D1697V	probably benign	Het
Nlrp1a	A	T	11: 71,015,014 (GRCm39)	F79I	probably benign	Het
Or52d3	T	C	7: 104,228,848 (GRCm39)		probably benign	Het
Pde9a	A	G	17: 31,605,284 (GRCm39)	Y6C	probably damaging	Het
Plxnd1	A	T	6: 115,934,509 (GRCm39)	I1808N	probably damaging	Het
Ppp1r13b	T	A	12: 111,800,167 (GRCm39)	T537S	probably benign	Het
Ppp2r2a	A	G	14: 67,253,924 (GRCm39)	F415L	possibly damaging	Het
Rabgap1	C	T	2: 37,453,499 (GRCm39)	R976*	probably null	Het
Rbfox3	T	C	11: 118,387,842 (GRCm39)	H195R	probably damaging	Het
Ripk4	A	T	16: 97,544,933 (GRCm39)	D571E	probably damaging	Het
Sdhaf4	T	A	1: 24,044,634 (GRCm39)	R16S	probably benign	Het
Slc17a1	G	T	13: 24,059,658 (GRCm39)	G130*	probably null	Het
Slc6a1	G	T	6: 114,278,977 (GRCm39)	A23S	probably benign	Het
Slco1a8	T	C	6: 141,926,704 (GRCm39)	I541V	probably damaging	Het
Syne2	A	G	12: 75,999,560 (GRCm39)	I2318V	probably damaging	Het
Terf2ip	T	C	8: 112,738,271 (GRCm39)	V53A	possibly damaging	Het
Thrb	T	C	14: 18,033,487 (GRCm38)	F403L	probably benign	Het
Tktl2	G	A	8: 66,964,999 (GRCm39)	V186M	probably damaging	Het
Uqcrfs1	T	C	13: 30,724,787 (GRCm39)	K251R	probably benign	Het
Vmn2r111	T	C	17: 22,792,085 (GRCm39)	E57G	possibly damaging	Het
Vmn2r114	T	A	17: 23,510,737 (GRCm39)	Y581F	probably damaging	Het
Vps13d	A	G	4: 144,874,909 (GRCm39)	V1866A	probably benign	Het
Washc5	A	T	15: 59,241,083 (GRCm39)	F84Y	probably damaging	Het
Yars1	T	A	4: 129,090,992 (GRCm39)	Y28*	probably null	Het
Zfp638	A	G	6: 83,905,964 (GRCm39)	Y43C	probably damaging	Het
Zfp750	T	A	11: 121,404,758 (GRCm39)	H39L	probably damaging	Het
Zfr2	C	A	10: 81,078,735 (GRCm39)	S322R	probably damaging	Het
Zzef1	A	G	11: 72,771,450 (GRCm39)	D1644G	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
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'- TGCTGGTAGAGGGCATCTTC -3'
(R):5'- GCAACACTAATGGCCTGAGTTTG -3'

Sequencing Primer
(F):5'- ATCTTCTGCGTACCAGCTGG -3'
(R):5'- GTTTTGTTGCACAGTCAACAAC -3'

Posted On

2014-10-01