Incidental Mutation 'IGL00095:Spock1'
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ID1020
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spock1
Ensembl Gene ENSMUSG00000056222
Gene Namesparc/osteonectin, cwcv and kazal-like domains proteoglycan 1
Synonymstestican 1, Ticn1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00095
Quality Score
Status
Chromosome13
Chromosomal Location57421195-57908332 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 57587739 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000139863 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000172326] [ENSMUST00000185502] [ENSMUST00000185905] [ENSMUST00000186271] [ENSMUST00000187852] [ENSMUST00000189373]
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cadm2 A T 16: 66,882,751 Y65N probably damaging Het
Catsperg2 C A 7: 29,698,058 C1042F possibly damaging Het
Cluh T C 11: 74,664,064 V776A probably benign Het
Crxos T A 7: 15,898,618 C116* probably null Het
Csmd1 A G 8: 16,009,297 probably benign Het
Cubn C A 2: 13,491,820 probably benign Het
Exoc2 A G 13: 30,820,626 I858T probably benign Het
Fam105a A G 15: 27,658,116 S273P possibly damaging Het
Frmpd1 C A 4: 45,279,456 T727K possibly damaging Het
Gm3139 T C 5: 94,537,804 L441P probably damaging Het
Hapln3 T C 7: 79,121,983 T53A probably damaging Het
Hnrnpul1 T A 7: 25,726,154 Q584L possibly damaging Het
Ikbkb A T 8: 22,706,111 F26I probably damaging Het
Il31ra A T 13: 112,547,478 I120N possibly damaging Het
Itih1 C T 14: 30,929,821 V855M probably benign Het
Krtap4-16 A G 11: 99,851,206 S123P possibly damaging Het
Large1 C T 8: 72,837,497 R547Q probably damaging Het
Madd A G 2: 91,175,766 probably benign Het
Mark1 A G 1: 184,898,603 V770A probably damaging Het
Mpeg1 T C 19: 12,462,710 F511L probably benign Het
Mrgpra9 A G 7: 47,235,091 V276A possibly damaging Het
Nav3 T C 10: 109,841,733 T666A probably damaging Het
Ndufa8 T C 2: 36,044,455 D37G probably damaging Het
Nlrx1 A G 9: 44,253,279 L956P probably damaging Het
Nr5a1 T C 2: 38,708,341 E148G probably benign Het
Olfr310 T C 7: 86,269,669 N40S probably damaging Het
Olfr509 A T 7: 108,645,836 F247I possibly damaging Het
Patj A C 4: 98,535,562 Q1184P possibly damaging Het
Phf20l1 A G 15: 66,629,035 T619A probably benign Het
Pla2g6 T C 15: 79,289,241 T643A probably damaging Het
Radil A G 5: 142,497,922 S510P probably damaging Het
Stag3 C T 5: 138,299,138 T577M probably damaging Het
Tap2 C T 17: 34,215,378 R613C probably benign Het
Tnn A G 1: 160,125,451 V673A possibly damaging Het
Trrap T C 5: 144,779,974 probably benign Het
Vmn2r28 T C 7: 5,488,069 D393G probably benign Het
Zbtb48 T C 4: 152,021,394 H418R probably damaging Het
Zc3h12d T C 10: 7,862,467 V179A probably damaging Het
Other mutations in Spock1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R2134:Spock1 UTSW 13 57436139 missense probably damaging 0.99
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
R7701:Spock1 UTSW 13 57587659 nonsense probably null
R8067:Spock1 UTSW 13 57696171 intron probably benign
R8256:Spock1 UTSW 13 57440444 missense probably damaging 0.97
Posted On2011-07-12