Incidental Mutation 'IGL01998:Spock1'
ID 182987
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spock1
Ensembl Gene ENSMUSG00000056222
Gene Name sparc/osteonectin, cwcv and kazal-like domains proteoglycan 1
Synonyms testican 1, Ticn1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01998
Quality Score
Status
Chromosome 13
Chromosomal Location 57569008-58056146 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 57583994 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000139863 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000172326] [ENSMUST00000185502] [ENSMUST00000185905] [ENSMUST00000186271] [ENSMUST00000187852] [ENSMUST00000189373]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000172326
SMART Domains Protein: ENSMUSP00000128840
Gene: ENSMUSG00000056222

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 benign
Transcript: ENSMUST00000185502
SMART Domains Protein: ENSMUSP00000140409
Gene: ENSMUSG00000056222

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 benign
Transcript: ENSMUST00000185905
Predicted Effect probably benign
Transcript: ENSMUST00000186271
SMART Domains Protein: ENSMUSP00000140755
Gene: ENSMUSG00000056222

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 benign
Transcript: ENSMUST00000187852
SMART Domains Protein: ENSMUSP00000141130
Gene: ENSMUSG00000056222

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 benign
Transcript: ENSMUST00000189373
SMART Domains Protein: ENSMUSP00000139863
Gene: ENSMUSG00000056222

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
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arpc3 T C 5: 122,541,470 (GRCm39) C78R probably damaging Het
Atp6v0b A G 4: 117,743,263 (GRCm39) probably null Het
B3gnt8 A G 7: 25,328,203 (GRCm39) Y211C probably damaging Het
Birc6 T C 17: 74,886,880 (GRCm39) I736T probably benign Het
Bltp1 T C 3: 37,011,165 (GRCm39) S1788P possibly damaging Het
Bpifb9a T C 2: 154,110,120 (GRCm39) probably null Het
C3ar1 A T 6: 122,827,899 (GRCm39) M106K probably damaging Het
C9orf72 A T 4: 35,194,179 (GRCm39) D205E probably benign Het
Cab39l T A 14: 59,734,344 (GRCm39) L21Q probably damaging Het
Casp1 A T 9: 5,303,043 (GRCm39) I166F probably damaging Het
Cd180 A G 13: 102,841,722 (GRCm39) E256G probably damaging Het
Clca4a T C 3: 144,663,887 (GRCm39) T519A probably damaging Het
Clstn3 A T 6: 124,435,622 (GRCm39) L233Q probably damaging Het
Crlf3 G A 11: 79,948,845 (GRCm39) probably benign Het
Depdc5 T C 5: 33,102,495 (GRCm39) probably benign Het
Drc7 T A 8: 95,785,821 (GRCm39) C226S probably damaging Het
Epha5 T A 5: 84,232,593 (GRCm39) D807V probably damaging Het
Fat2 A G 11: 55,187,021 (GRCm39) L1275P probably benign Het
Fv1 T C 4: 147,953,784 (GRCm39) C117R possibly damaging Het
Ighg2b C A 12: 113,270,709 (GRCm39) M140I unknown Het
Klra5 A T 6: 129,883,676 (GRCm39) Y60* probably null Het
Lmtk2 C T 5: 144,112,883 (GRCm39) T1201I probably damaging Het
Ncapd2 A T 6: 125,150,078 (GRCm39) S917T probably benign Het
Ncapd2 A T 6: 125,146,896 (GRCm39) L1230H probably damaging Het
Nfx1 T A 4: 41,004,353 (GRCm39) I708N probably damaging Het
Notch2 A T 3: 98,050,422 (GRCm39) D1899V probably damaging Het
Npepl1 T A 2: 173,957,993 (GRCm39) probably benign Het
Nps T A 7: 134,870,481 (GRCm39) probably benign Het
Nrg1 T C 8: 32,408,162 (GRCm39) S24G probably damaging Het
Or1j20 A G 2: 36,759,658 (GRCm39) N27D probably benign Het
Or2ag16 G A 7: 106,351,758 (GRCm39) T279M possibly damaging Het
Or2t48 A T 11: 58,420,403 (GRCm39) Y136* probably null Het
Or4k2 C A 14: 50,424,105 (GRCm39) V190L probably benign Het
Pigx G T 16: 31,903,428 (GRCm39) T211K probably benign Het
Pink1 A G 4: 138,048,053 (GRCm39) I223T probably damaging Het
Plat G A 8: 23,257,163 (GRCm39) A15T probably benign Het
Ptges2 G A 2: 32,291,542 (GRCm39) A310T possibly damaging Het
Rsl1d1 A G 16: 11,012,509 (GRCm39) S306P possibly damaging Het
Rxfp1 T C 3: 79,567,403 (GRCm39) K316E probably benign Het
Scn10a A G 9: 119,438,742 (GRCm39) I1708T probably damaging Het
Sdk2 A T 11: 113,729,358 (GRCm39) F1073Y probably damaging Het
Sp100 A G 1: 85,594,650 (GRCm39) D170G probably benign Het
Strbp A G 2: 37,515,297 (GRCm39) L243P probably damaging Het
Tex55 A T 16: 38,648,586 (GRCm39) D174E probably benign Het
Tgm5 T A 2: 120,882,920 (GRCm39) T446S probably damaging Het
Tmem59l C T 8: 70,937,431 (GRCm39) V239I probably benign Het
Trav8-1 A T 14: 53,707,662 (GRCm39) T101S probably benign Het
Triml1 T C 8: 43,594,350 (GRCm39) D27G probably damaging Het
Vmn2r54 T C 7: 12,349,227 (GRCm39) E785G probably benign Het
Vps13c A G 9: 67,862,350 (GRCm39) probably null Het
Wwp2 C T 8: 108,276,153 (GRCm39) R64C probably damaging Het
Zfp608 T C 18: 55,024,890 (GRCm39) H1460R probably damaging Het
Other mutations in Spock1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R2134:Spock1 UTSW 13 57,583,952 (GRCm39) missense probably damaging 0.99
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
Posted On 2014-05-07