Incidental Mutation 'IGL01505:Stpg2'
ID89044
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stpg2
Ensembl Gene ENSMUSG00000047940
Gene Namesperm tail PG rich repeat containing 2
SynonymsLOC381476, B930007M17Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.054) question?
Stock #IGL01505
Quality Score
Status
Chromosome3
Chromosomal Location139205694-139710299 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 139317453 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 410 (A410V)
Ref Sequence ENSEMBL: ENSMUSP00000101846 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062306] [ENSMUST00000106239]
Predicted Effect probably benign
Transcript: ENSMUST00000062306
AA Change: A410V

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000051539
Gene: ENSMUSG00000047940
AA Change: A410V

DomainStartEndE-ValueType
Pfam:SHIPPO-rpt 20 50 1.1e1 PFAM
Pfam:SHIPPO-rpt 62 92 1.3e1 PFAM
Pfam:SHIPPO-rpt 97 127 9.1e1 PFAM
Pfam:SHIPPO-rpt 162 193 1.3e2 PFAM
Pfam:SHIPPO-rpt 200 235 1.7e0 PFAM
Pfam:SHIPPO-rpt 249 285 1.2e-2 PFAM
Pfam:SHIPPO-rpt 292 315 3.2e1 PFAM
Pfam:SHIPPO-rpt 334 371 2.1e0 PFAM
Pfam:SHIPPO-rpt 421 462 3.8e0 PFAM
Pfam:SHIPPO-rpt 471 497 2.9e1 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106239
AA Change: A410V

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000101846
Gene: ENSMUSG00000047940
AA Change: A410V

DomainStartEndE-ValueType
Pfam:SHIPPO-rpt 200 220 6.9e-1 PFAM
Pfam:SHIPPO-rpt 249 285 8.8e-2 PFAM
Pfam:SHIPPO-rpt 334 371 5.4e-2 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930546C10Rik T C 18: 68,947,347 probably null Het
A2m A G 6: 121,676,947 N1413S possibly damaging Het
Arhgap45 A T 10: 80,026,542 N488Y probably benign Het
Arid4a G A 12: 71,037,115 D94N probably damaging Het
Atp7a A G X: 106,109,830 K1114E probably damaging Het
Atp8a2 C T 14: 60,028,063 V275M probably benign Het
Ceacam12 T C 7: 18,067,432 V112A probably damaging Het
Cep295 T A 9: 15,318,049 D2256V probably benign Het
Chid1 A T 7: 141,513,894 probably null Het
Clcn5 A T X: 7,170,439 L268* probably null Het
Cldn17 A G 16: 88,506,703 I46T possibly damaging Het
Cnot1 A T 8: 95,728,718 I2025N probably damaging Het
Cntn5 C T 9: 9,706,087 V574M probably damaging Het
Col14a1 T A 15: 55,455,223 C1373S unknown Het
Col9a1 A G 1: 24,185,124 N129S unknown Het
Cp C T 3: 19,977,192 P598S possibly damaging Het
Cpb1 G A 3: 20,266,246 R150C probably damaging Het
Cyp2j7 T A 4: 96,227,680 probably null Het
Dnajb7 T C 15: 81,407,491 E215G possibly damaging Het
Dock1 G A 7: 135,158,510 R1634Q possibly damaging Het
Dopey2 A G 16: 93,757,116 T313A possibly damaging Het
Fgd2 T A 17: 29,366,997 V185E probably damaging Het
Flnb T C 14: 7,902,003 probably null Het
Fzd7 A G 1: 59,483,903 E315G probably benign Het
Gjc1 T A 11: 102,800,726 K150N probably benign Het
Gm436 C T 4: 144,674,618 V99M probably damaging Het
Gpihbp1 C T 15: 75,598,128 probably benign Het
Gpr160 T C 3: 30,895,853 S25P possibly damaging Het
Grsf1 G A 5: 88,672,749 R58* probably null Het
Ifit1 T A 19: 34,648,454 M330K probably benign Het
Igkv1-122 T C 6: 68,017,194 V22A probably benign Het
Ikbke A T 1: 131,255,311 D692E probably benign Het
Il15ra T C 2: 11,733,145 probably benign Het
Il18rap A G 1: 40,537,084 I252V probably damaging Het
Klra10 C T 6: 130,272,717 G202R probably damaging Het
Kpna7 A G 5: 144,992,851 V388A probably damaging Het
L2hgdh A G 12: 69,721,401 S108P probably damaging Het
Msto1 G A 3: 88,910,743 T388M probably benign Het
Naip1 T C 13: 100,425,933 E908G probably damaging Het
Neto1 C A 18: 86,473,689 D238E possibly damaging Het
Nlrp5 T A 7: 23,417,734 D294E probably benign Het
Nr3c2 T C 8: 76,909,187 S306P probably damaging Het
Olfr890 T A 9: 38,143,871 C240* probably null Het
Pard3 T A 8: 127,324,063 L202H probably damaging Het
Pdzd2 T C 15: 12,458,207 N190S probably damaging Het
Pi4ka T C 16: 17,309,358 D1077G probably benign Het
Pmfbp1 A C 8: 109,513,911 L208F probably damaging Het
Pms1 C T 1: 53,206,971 D470N probably benign Het
Prdm10 T C 9: 31,327,282 F108L probably benign Het
Rab11fip1 A T 8: 27,154,776 M327K possibly damaging Het
Slc37a4 T A 9: 44,399,964 L184Q probably damaging Het
Smdt1 T C 15: 82,347,893 probably benign Het
Smg6 A G 11: 75,156,291 Y1270C probably damaging Het
Speer4f2 T A 5: 17,376,567 V169E possibly damaging Het
Tnrc6b T A 15: 80,879,963 D555E probably benign Het
Tsg101 A G 7: 46,909,060 Y46H probably damaging Het
Vmn2r111 G A 17: 22,548,572 S648L probably benign Het
Vmn2r73 T A 7: 85,858,059 R682* probably null Het
Xkr5 A T 8: 18,933,498 I676N probably damaging Het
Other mutations in Stpg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01346:Stpg2 APN 3 139419874 splice site probably benign
IGL01649:Stpg2 APN 3 139419862 missense probably damaging 1.00
IGL03264:Stpg2 APN 3 139309209 missense possibly damaging 0.72
PIT4687001:Stpg2 UTSW 3 139215265 missense possibly damaging 0.89
R0053:Stpg2 UTSW 3 139212321 missense probably benign 0.00
R0099:Stpg2 UTSW 3 139243193 splice site probably benign
R0417:Stpg2 UTSW 3 139218321 missense probably damaging 1.00
R1646:Stpg2 UTSW 3 139419702 splice site probably benign
R1719:Stpg2 UTSW 3 139232199 missense probably benign 0.11
R1791:Stpg2 UTSW 3 139317401 missense probably benign 0.00
R1799:Stpg2 UTSW 3 139419781 missense probably damaging 1.00
R1912:Stpg2 UTSW 3 139522981 splice site probably null
R1974:Stpg2 UTSW 3 139309183 nonsense probably null
R3725:Stpg2 UTSW 3 139317477 missense probably benign 0.00
R3727:Stpg2 UTSW 3 139298496 missense probably damaging 1.00
R4225:Stpg2 UTSW 3 139215292 missense probably damaging 0.97
R4694:Stpg2 UTSW 3 139317416 missense possibly damaging 0.94
R4698:Stpg2 UTSW 3 139309229 missense probably damaging 1.00
R4879:Stpg2 UTSW 3 139215373 missense probably benign 0.03
R5236:Stpg2 UTSW 3 139232223 missense probably damaging 1.00
R5476:Stpg2 UTSW 3 139243138 missense probably benign 0.03
R5567:Stpg2 UTSW 3 139419786 missense probably benign 0.22
R6297:Stpg2 UTSW 3 139701671 missense possibly damaging 0.91
R6692:Stpg2 UTSW 3 139522977 critical splice donor site probably null
R7113:Stpg2 UTSW 3 139701774 critical splice donor site probably null
R7154:Stpg2 UTSW 3 139215295 missense probably benign 0.44
R7553:Stpg2 UTSW 3 139218337 missense probably damaging 1.00
X0009:Stpg2 UTSW 3 139298462 missense probably benign 0.00
X0018:Stpg2 UTSW 3 139243090 missense probably benign 0.44
Posted On2013-12-03