Incidental Mutation 'R5882:Spock3'
ID 454471
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 043236-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5882 (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 63596965 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 93 (T93A)
Ref Sequence ENSEMBL: ENSMUSP00000112930 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093480] [ENSMUST00000117377] [ENSMUST00000118003] [ENSMUST00000119068]
AlphaFold Q8BKV0
Predicted Effect probably benign
Transcript: ENSMUST00000093480
AA Change: T93A

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000091192
Gene: ENSMUSG00000054162
AA Change: T93A

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 benign
Transcript: ENSMUST00000117377
AA Change: T90A

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000113797
Gene: ENSMUSG00000054162
AA Change: T90A

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 benign
Transcript: ENSMUST00000118003
AA Change: T93A

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000113683
Gene: ENSMUSG00000054162
AA Change: T93A

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 benign
Transcript: ENSMUST00000119068
AA Change: T93A

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000112930
Gene: ENSMUSG00000054162
AA Change: T93A

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 96.5%
  • 20x: 86.5%
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apol7e T A 15: 77,602,447 (GRCm39) H348Q probably benign Het
Cacna1g T A 11: 94,350,645 (GRCm39) E400V probably damaging Het
Cyp2j6 T A 4: 96,423,839 (GRCm39) K176N probably benign Het
Dcaf4 T C 12: 83,586,203 (GRCm39) V377A probably damaging Het
Dennd1a A G 2: 37,851,675 (GRCm39) L71P probably damaging Het
Dmbx1 G T 4: 115,777,498 (GRCm39) R117S probably damaging Het
Ep400 A G 5: 110,903,453 (GRCm39) V382A probably benign Het
Kars1 G A 8: 112,730,057 (GRCm39) R107* probably null Het
Kif16b C T 2: 142,549,178 (GRCm39) probably null Het
Lrrc69 A G 4: 14,708,690 (GRCm39) F218S probably damaging Het
Myo15b A G 11: 115,760,422 (GRCm39) Y1158C probably damaging Het
Myom1 G C 17: 71,417,717 (GRCm39) A1307P probably damaging Het
Nacad C T 11: 6,548,568 (GRCm39) V1389I possibly damaging Het
Nit2 T C 16: 56,979,829 (GRCm39) D132G probably benign Het
Nln G T 13: 104,196,006 (GRCm39) D60E probably benign Het
Oas1f G A 5: 120,986,316 (GRCm39) E90K probably damaging Het
Obox3 A G 7: 15,360,893 (GRCm39) V82A probably benign Het
Or4k35 A T 2: 111,100,484 (GRCm39) V76E probably damaging Het
Or8b12 C T 9: 37,657,928 (GRCm39) T166I probably benign Het
Pcdhb1 A T 18: 37,400,230 (GRCm39) Q727L probably benign Het
Phactr1 G T 13: 42,863,327 (GRCm39) probably null Het
Prkg1 A T 19: 31,563,097 (GRCm39) N116K probably damaging Het
Scnn1g A T 7: 121,366,581 (GRCm39) S593C possibly damaging Het
Serpina6 T C 12: 103,620,494 (GRCm39) N85S probably benign Het
St7 T C 6: 17,846,248 (GRCm39) L121P probably damaging Het
Stoml2 G C 4: 43,031,003 (GRCm39) R57G probably damaging Het
Tdrd1 C T 19: 56,837,371 (GRCm39) R532C probably damaging Het
Tmc5 A G 7: 118,254,142 (GRCm39) N660S probably damaging Het
Tmem38a A G 8: 73,339,731 (GRCm39) H233R probably damaging Het
Trp53bp2 T C 1: 182,269,777 (GRCm39) V304A possibly damaging Het
Ush1g C A 11: 115,209,368 (GRCm39) M275I probably damaging Het
Zfp882 A T 8: 72,667,303 (GRCm39) probably null Het
Zim1 A T 7: 6,685,737 (GRCm39) probably null 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
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
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'- TCCATGACCGTGCTTATGAGG -3'
(R):5'- GCTTCTGGAGCCATTTAAACAAATACC -3'

Sequencing Primer
(F):5'- TAAGACAATAGGAGGTGGTGTGTGTG -3'
(R):5'- ACAGAGGGTTTACCTGTG -3'
Posted On 2017-02-10