Incidental Mutation 'R2134:Spock1'
ID233663
Institutional Source Beutler Lab
Gene Symbol Spock1
Ensembl Gene ENSMUSG00000056222
Gene Namesparc/osteonectin, cwcv and kazal-like domains proteoglycan 1
Synonymstestican 1, Ticn1
MMRRC Submission 040137-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R2134 (G1)
Quality Score225
Status Not validated
Chromosome13
Chromosomal Location57421195-57908332 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 57436139 bp
ZygosityHeterozygous
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]
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A T 11: 110,030,917 V1437E probably null Het
Adam12 G A 7: 134,012,288 R80* probably null Het
Adgrb3 G T 1: 25,093,957 F479L probably damaging Het
Atf7ip T A 6: 136,605,487 V1165E possibly damaging Het
Atm C T 9: 53,467,964 probably null Het
Atp11c A G X: 60,276,783 Y593H probably damaging Het
Btnl1 A G 17: 34,385,634 D463G possibly damaging Het
Cdc34b T G 11: 94,742,426 W151G probably damaging Het
Cdkal1 A G 13: 29,354,677 S500P possibly damaging Het
Cenpf T C 1: 189,658,642 N998D probably benign Het
Ces2e T A 8: 104,932,539 probably null Het
Chd7 A G 4: 8,753,147 Q548R probably damaging Het
Chfr T A 5: 110,144,761 probably null Het
Clu A G 14: 65,974,841 probably null Het
Cntnap5c A G 17: 58,407,722 D1235G probably damaging Het
Col6a4 T C 9: 106,066,661 S1205G probably benign Het
Ddx47 G T 6: 135,015,350 E113* probably null Het
Dock4 A G 12: 40,745,668 Y828C probably benign Het
Dync1h1 T A 12: 110,656,631 N3553K possibly damaging Het
Egflam C T 15: 7,234,279 C730Y probably damaging Het
Fam83b T C 9: 76,491,016 Y935C probably damaging Het
Fam83g A G 11: 61,703,684 I681M probably benign Het
Fastk T C 5: 24,445,141 R3G probably damaging Het
Fxr1 A T 3: 34,058,047 E367D probably damaging Het
Gatb A G 3: 85,611,370 D261G probably damaging Het
Gm5617 T C 9: 48,495,817 S84P possibly damaging Het
Gm6614 T C 6: 141,980,978 I541V probably damaging Het
Hecw1 C T 13: 14,377,700 E104K probably damaging Het
Il31ra T C 13: 112,543,888 K265R possibly damaging Het
Khsrp GTCATT GT 17: 57,024,410 probably null Het
Lrp2 T A 2: 69,511,067 D923V probably damaging Het
Ltn1 A G 16: 87,382,713 L1520P probably damaging Het
Magel2 G A 7: 62,379,096 V583I unknown Het
Map1s T G 8: 70,913,882 V477G probably benign Het
Mical1 T C 10: 41,482,712 L542P probably damaging Het
Mycbp2 T C 14: 103,208,893 Y1800C probably damaging Het
Mylk A T 16: 34,986,476 D1697V probably benign Het
Nlrp1a A T 11: 71,124,188 F79I probably benign Het
Olfr653 T C 7: 104,579,641 probably benign Het
Pde9a A G 17: 31,386,310 Y6C probably damaging Het
Plxnd1 A T 6: 115,957,548 I1808N probably damaging Het
Ppp1r13b T A 12: 111,833,733 T537S probably benign Het
Ppp2r2a A G 14: 67,016,475 F415L possibly damaging Het
Rabgap1 C T 2: 37,563,487 R976* probably null Het
Rbfox3 T C 11: 118,497,016 H195R probably damaging Het
Ripk4 A T 16: 97,743,733 D571E probably damaging Het
Sdhaf4 T A 1: 24,005,553 R16S probably benign Het
Slc17a1 G T 13: 23,875,675 G130* probably null Het
Slc6a1 G T 6: 114,302,016 A23S probably benign Het
Soga3 T A 10: 29,196,399 Y562* probably null Het
Syne2 A G 12: 75,952,786 I2318V probably damaging Het
Terf2ip T C 8: 112,011,639 V53A possibly damaging Het
Thrb T C 14: 18,033,487 F403L probably benign Het
Tktl2 G A 8: 66,512,347 V186M probably damaging Het
Uqcrfs1 T C 13: 30,540,804 K251R probably benign Het
Vmn2r111 T C 17: 22,573,104 E57G possibly damaging Het
Vmn2r114 T A 17: 23,291,763 Y581F probably damaging Het
Vps13d A G 4: 145,148,339 V1866A probably benign Het
Washc5 A T 15: 59,369,234 F84Y probably damaging Het
Yars T A 4: 129,197,199 Y28* probably null Het
Zfp638 A G 6: 83,928,982 Y43C probably damaging Het
Zfp750 T A 11: 121,513,932 H39L probably damaging Het
Zfr2 C A 10: 81,242,901 S322R probably damaging Het
Zzef1 A G 11: 72,880,624 D1644G probably benign Het
Other mutations in Spock1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00095:Spock1 APN 13 57587739 splice site probably benign
IGL00491:Spock1 APN 13 57556806 missense possibly damaging 0.67
IGL01942:Spock1 APN 13 57430328 missense probably damaging 1.00
IGL01998:Spock1 APN 13 57436181 splice site probably benign
IGL02428:Spock1 APN 13 57444432 splice site probably benign
IGL02805:Spock1 APN 13 57907577 missense possibly damaging 0.46
IGL02814:Spock1 APN 13 57587673 missense probably damaging 1.00
IGL03307:Spock1 APN 13 57429347 missense probably null 1.00
R0227:Spock1 UTSW 13 57440477 missense possibly damaging 0.86
R0243:Spock1 UTSW 13 57436109 critical splice donor site probably null
R0393:Spock1 UTSW 13 57440536 missense probably damaging 1.00
R1298:Spock1 UTSW 13 57512750 missense probably benign 0.00
R1393:Spock1 UTSW 13 57907454 missense probably damaging 1.00
R1467:Spock1 UTSW 13 57429369 missense possibly damaging 0.53
R1467:Spock1 UTSW 13 57429369 missense possibly damaging 0.53
R4386:Spock1 UTSW 13 57440450 missense probably damaging 1.00
R5524:Spock1 UTSW 13 57556795 missense probably damaging 1.00
R5765:Spock1 UTSW 13 57429404 missense probably benign 0.19
R7195:Spock1 UTSW 13 57907502 missense possibly damaging 0.92
R7446:Spock1 UTSW 13 57436085 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 On2014-10-01