Incidental Mutation 'R1469:Spock3'
ID 500278
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 039522-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1469 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 63404043-63810137 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 63404934 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 34 (D34G)
Ref Sequence ENSEMBL: ENSMUSP00000112930 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093480] [ENSMUST00000117377] [ENSMUST00000118003] [ENSMUST00000119068]
AlphaFold Q8BKV0
Predicted Effect probably damaging
Transcript: ENSMUST00000093480
AA Change: D34G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000091192
Gene: ENSMUSG00000054162
AA Change: D34G

DomainStartEndE-ValueType
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 probably damaging
Transcript: ENSMUST00000117377
AA Change: D34G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113797
Gene: ENSMUSG00000054162
AA Change: D34G

DomainStartEndE-ValueType
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 probably damaging
Transcript: ENSMUST00000118003
AA Change: D34G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113683
Gene: ENSMUSG00000054162
AA Change: D34G

DomainStartEndE-ValueType
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 probably damaging
Transcript: ENSMUST00000119068
AA Change: D34G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000112930
Gene: ENSMUSG00000054162
AA Change: D34G

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000138398
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141513
Meta Mutation Damage Score 0.0956 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 95.3%
  • 10x: 69.3%
  • 20x: 30.3%
Validation Efficiency
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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh A T 5: 77,039,526 (GRCm39) V261E probably damaging Het
Abca15 A G 7: 119,981,720 (GRCm39) E1058G probably benign Het
Abcb5 T G 12: 118,831,681 (GRCm39) I1224L possibly damaging Het
Actn4 A G 7: 28,604,753 (GRCm39) V348A probably benign Het
Agtr1b A T 3: 20,369,664 (GRCm39) L314H probably damaging Het
Ankrd55 T C 13: 112,504,460 (GRCm39) M402T probably benign Het
Asap2 A G 12: 21,263,180 (GRCm39) Q265R probably benign Het
Atp2b4 G A 1: 133,634,677 (GRCm39) R1124C probably damaging Het
Atp2c1 A T 9: 105,312,351 (GRCm39) C353* probably null Het
Atp8b5 T A 4: 43,291,733 (GRCm39) probably null Het
Baz1b T A 5: 135,246,833 (GRCm39) Y761N probably damaging Het
Bend6 A G 1: 33,903,824 (GRCm39) V38A probably benign Het
Camk1g T C 1: 193,044,399 (GRCm39) E5G possibly damaging Het
Ccdc14 T A 16: 34,527,152 (GRCm39) H352Q probably damaging Het
Cdh2 A G 18: 16,757,324 (GRCm39) V641A possibly damaging Het
Celsr2 C A 3: 108,321,424 (GRCm39) D463Y probably damaging Het
Cfap43 A G 19: 47,885,314 (GRCm39) Y434H probably damaging Het
Cnih2 T C 19: 5,143,730 (GRCm39) Y142C probably damaging Het
Coa5 T A 1: 37,459,681 (GRCm39) R71* probably null Het
Csmd3 A T 15: 47,532,598 (GRCm39) Y2532* probably null Het
Cytl1 A T 5: 37,892,991 (GRCm39) M34L probably benign Het
Dctn1 T A 6: 83,169,871 (GRCm39) I590N probably damaging Het
Dhx57 T C 17: 80,561,847 (GRCm39) H889R probably damaging Het
Dock10 A G 1: 80,490,275 (GRCm39) I1948T probably benign Het
Dock3 A T 9: 106,832,908 (GRCm39) N1034K probably benign Het
Dzip1l G A 9: 99,541,829 (GRCm39) probably null Het
Eif4g1 T A 16: 20,498,758 (GRCm39) V439E possibly damaging Het
Eml5 T C 12: 98,825,082 (GRCm39) I712V probably benign Het
Entrep1 G A 19: 23,950,970 (GRCm39) T537I probably benign Het
Epha3 C T 16: 63,473,857 (GRCm39) G300D probably damaging Het
Erbb4 A C 1: 68,599,841 (GRCm39) S79A probably damaging Het
Gclc T C 9: 77,688,419 (GRCm39) V205A probably benign Het
Gdpd4 A G 7: 97,623,673 (GRCm39) probably null Het
Gm11564 C T 11: 99,706,058 (GRCm39) C124Y unknown Het
Gm16494 T C 17: 47,327,770 (GRCm39) E38G probably damaging Het
Gtf2h1 T C 7: 46,454,549 (GRCm39) probably null Het
Gtsf2 G T 15: 103,349,644 (GRCm39) R68S probably benign Het
Heatr5b T C 17: 79,115,813 (GRCm39) Q881R probably damaging Het
Hmox1 C A 8: 75,825,463 (GRCm39) L236I probably benign Het
Ighv8-12 T C 12: 115,611,963 (GRCm39) I7V probably benign Het
Izumo1 T C 7: 45,272,437 (GRCm39) S73P probably damaging Het
Kifbp A T 10: 62,395,229 (GRCm39) F471Y probably damaging Het
Knl1 A G 2: 118,901,827 (GRCm39) N1176S possibly damaging Het
Mecom A T 3: 30,034,197 (GRCm39) L493Q probably damaging Het
Mprip T C 11: 59,650,016 (GRCm39) V1240A probably damaging Het
Mrpl3 T C 9: 104,954,201 (GRCm39) S302P probably damaging Het
Mycbp2 T C 14: 103,425,956 (GRCm39) T2390A probably damaging Het
Myo1c T C 11: 75,560,787 (GRCm39) S766P probably damaging Het
Myo9b A G 8: 71,743,680 (GRCm39) Q247R probably damaging Het
Nav3 G A 10: 109,596,369 (GRCm39) T1423I probably damaging Het
Nefh A T 11: 4,890,066 (GRCm39) I851N probably benign Het
Nup98 T C 7: 101,788,008 (GRCm39) T1004A probably benign Het
Or1e17 T C 11: 73,831,383 (GRCm39) F104L probably benign Het
Or1e22 G A 11: 73,377,149 (GRCm39) S167L possibly damaging Het
Or5k8 G A 16: 58,644,973 (GRCm39) T33I probably benign Het
Or5p76 T C 7: 108,122,411 (GRCm39) T249A probably benign Het
Osgin1 G T 8: 120,172,124 (GRCm39) R306L possibly damaging Het
Otof A G 5: 30,537,571 (GRCm39) L1246P probably benign Het
Pde8a T A 7: 80,952,019 (GRCm39) N273K probably damaging Het
Phf14 T A 6: 11,933,726 (GRCm39) M196K possibly damaging Het
Pkd1l3 T C 8: 110,373,585 (GRCm39) S1374P possibly damaging Het
Pkhd1l1 T C 15: 44,400,282 (GRCm39) V2142A probably benign Het
Plb1 A G 5: 32,512,170 (GRCm39) E1318G possibly damaging Het
Plekhh2 A G 17: 84,883,199 (GRCm39) I756V probably benign Het
Primpol A G 8: 47,046,672 (GRCm39) V208A probably benign Het
Ptch2 C A 4: 116,965,662 (GRCm39) A389E probably benign Het
Pzp A G 6: 128,489,319 (GRCm39) Y431H probably benign Het
Rnf43 G A 11: 87,622,233 (GRCm39) G445R probably damaging Het
Scn5a A T 9: 119,362,727 (GRCm39) probably null Het
Sfi1 CCTCTC CCTCTCTC 11: 3,127,419 (GRCm39) probably benign Het
Shisa9 T A 16: 11,802,935 (GRCm39) M164K probably damaging Het
Skint1 A G 4: 111,882,708 (GRCm39) I251V probably benign Het
Slc16a14 C T 1: 84,907,182 (GRCm39) D31N probably damaging Het
Slc22a13 T C 9: 119,022,361 (GRCm39) S548G possibly damaging Het
Slc4a9 T C 18: 36,664,154 (GRCm39) F316L probably benign Het
Smchd1 C T 17: 71,656,725 (GRCm39) R1914H probably damaging Het
Snx16 C T 3: 10,499,431 (GRCm39) D200N probably damaging Het
Sspo T C 6: 48,467,916 (GRCm39) C4154R probably damaging Het
Sytl3 C T 17: 6,954,723 (GRCm39) A131V probably benign Het
Tacc1 T A 8: 25,672,271 (GRCm39) D319V probably benign Het
Tead1 A T 7: 112,475,391 (GRCm39) K234I probably damaging Het
Tgfbrap1 C T 1: 43,114,618 (GRCm39) V161I probably benign Het
Tnfaip3 A G 10: 18,884,017 (GRCm39) V121A probably damaging Het
Tnnt2 A G 1: 135,779,793 (GRCm39) T297A possibly damaging Het
Trappc11 G A 8: 47,957,000 (GRCm39) L809F probably damaging Het
Ttn T C 2: 76,601,869 (GRCm39) I18598V probably benign Het
Ugt1a10 G A 1: 88,143,976 (GRCm39) A199T probably damaging Het
Unc5a A G 13: 55,144,232 (GRCm39) N186D probably damaging Het
Uqcrfs1 C A 13: 30,724,784 (GRCm39) G252V probably damaging Het
Vmn2r115 T C 17: 23,564,992 (GRCm39) I293T probably damaging Het
Vmn2r9 T C 5: 108,991,694 (GRCm39) T556A probably benign Het
Ythdc2 T A 18: 44,997,529 (GRCm39) Y1029N probably benign Het
Zfp451 T A 1: 33,808,894 (GRCm39) K989M possibly damaging Het
Zfpm1 C T 8: 123,062,585 (GRCm39) T548M probably damaging Het
Other mutations in Spock3
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R5000:Spock3 UTSW 8 63,698,158 (GRCm39) missense possibly damaging 0.86
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
Posted On 2017-12-01