Incidental Mutation 'R5076:Spock3'
ID 395774
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 042665-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5076 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 63404043-63810137 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 63798889 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 303 (N303K)
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: N303K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000091192
Gene: ENSMUSG00000054162
AA Change: N303K

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: N300K

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113797
Gene: ENSMUSG00000054162
AA Change: N300K

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: N303K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113683
Gene: ENSMUSG00000054162
AA Change: N303K

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: N303K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112930
Gene: ENSMUSG00000054162
AA Change: N303K

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
Meta Mutation Damage Score 0.1385 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.0%
Validation Efficiency 97% (66/68)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933434E20Rik A G 3: 89,963,559 (GRCm39) I72V probably benign Het
Aadacl3 G A 4: 144,182,640 (GRCm39) P276L possibly damaging Het
Acp6 T A 3: 97,075,305 (GRCm39) S180T probably benign Het
Adgrd1 A T 5: 129,221,053 (GRCm39) R449* probably null Het
Ak1 T C 2: 32,523,460 (GRCm39) V176A probably damaging Het
Capzb A T 4: 139,015,125 (GRCm39) D226V possibly damaging Het
Cd34 A T 1: 194,630,338 (GRCm39) probably benign Het
Cdh15 C A 8: 123,591,087 (GRCm39) D445E possibly damaging Het
Chil4 A G 3: 106,109,913 (GRCm39) F367L probably damaging Het
Clstn2 T C 9: 97,365,132 (GRCm39) Y458C probably damaging Het
Cplane2 A G 4: 140,944,696 (GRCm39) I82M probably benign Het
Ctsw T C 19: 5,518,486 (GRCm39) Y9C probably benign Het
Dhrs7 T C 12: 72,706,255 (GRCm39) D50G probably benign Het
Dnah14 A G 1: 181,584,799 (GRCm39) K3177E probably benign Het
Ehd1 T C 19: 6,327,251 (GRCm39) F83L probably benign Het
Eif5a2 G A 3: 28,836,886 (GRCm39) V59I possibly damaging Het
Emilin3 T A 2: 160,751,238 (GRCm39) probably null Het
Entpd8 A G 2: 24,975,066 (GRCm39) S426G possibly damaging Het
Epb41l4b C T 4: 57,040,984 (GRCm39) G493D probably damaging Het
Gm11596 C T 11: 99,683,698 (GRCm39) G141R unknown Het
Gpi-ps T G 8: 5,690,130 (GRCm39) noncoding transcript Het
H2-Q4 T C 17: 35,599,417 (GRCm39) Y167H probably damaging Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Itpr1 A G 6: 108,382,490 (GRCm39) probably null Het
Kif2c A T 4: 117,032,066 (GRCm39) probably benign Het
Klrb1-ps1 C T 6: 129,096,751 (GRCm39) noncoding transcript Het
Krtap9-5 A T 11: 99,840,294 (GRCm39) T332S unknown Het
Lrrc39 A T 3: 116,373,189 (GRCm39) E283V probably benign Het
Mdga1 A G 17: 30,069,528 (GRCm39) S447P possibly damaging Het
Mindy1 G A 3: 95,202,710 (GRCm39) V425M probably benign Het
Mllt6 G A 11: 97,560,326 (GRCm39) S210N possibly damaging Het
Mrps5 T A 2: 127,442,772 (GRCm39) Y280* probably null Het
Muc3a T A 5: 137,244,997 (GRCm39) T159S probably damaging Het
Or10ad1b T A 15: 98,124,642 (GRCm39) I295F probably damaging Het
Or4a79 T A 2: 89,551,745 (GRCm39) T237S probably damaging Het
Or4f6 A T 2: 111,838,937 (GRCm39) M198K probably damaging Het
Pcdhga4 G A 18: 37,818,648 (GRCm39) V66I probably benign Het
Pdhx T C 2: 102,871,422 (GRCm39) T203A probably damaging Het
Pdss1 A G 2: 22,789,929 (GRCm39) probably null Het
Pdxk G T 10: 78,286,141 (GRCm39) Q103K probably benign Het
Peg3 A G 7: 6,711,419 (GRCm39) C1268R probably damaging Het
Pitpnc1 A T 11: 107,187,093 (GRCm39) S77T probably damaging Het
Pnisr T A 4: 21,874,990 (GRCm39) probably benign Het
Poc1b C T 10: 98,943,703 (GRCm39) T22I probably damaging Het
Ppfia1 G A 7: 144,060,001 (GRCm39) R604W probably damaging Het
Ppp1r3a A G 6: 14,754,680 (GRCm39) F189S probably damaging Het
Rbks T A 5: 31,807,795 (GRCm39) Y99* probably null Het
Sh3rf2 G T 18: 42,186,989 (GRCm39) C36F probably damaging Het
Tasor2 C T 13: 3,626,357 (GRCm39) V1198I probably benign Het
Tcaf2 T C 6: 42,606,401 (GRCm39) T518A probably benign Het
Tmem163 A T 1: 127,428,013 (GRCm39) V191D probably damaging Het
Trappc6b A G 12: 59,097,094 (GRCm39) V76A probably damaging Het
Ube2nl A G 7: 61,199,280 (GRCm39) noncoding transcript Het
Unc5d C T 8: 29,184,704 (GRCm39) V599M possibly damaging Het
Vmn1r184 A T 7: 25,966,346 (GRCm39) M31L probably benign Het
Vrtn C A 12: 84,696,248 (GRCm39) Q333K probably damaging Het
Zfp788 T A 7: 41,298,008 (GRCm39) F163I possibly damaging Het
Zfyve1 C T 12: 83,602,421 (GRCm39) R458H 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
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
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'- TTTGCAAGGATTCACTTGGC -3'
(R):5'- CTGCTTGCGGGTTCATAATG -3'

Sequencing Primer
(F):5'- CACTTGGCTGGATGTTTAATAGAC -3'
(R):5'- CTTGCGGGTTCATAATGGGAAC -3'
Posted On 2016-06-21