Incidental Mutation 'IGL02432:Stpg1'
ID293164
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stpg1
Ensembl Gene ENSMUSG00000028801
Gene Namesperm tail PG rich repeat containing 1
Synonyms4930555I21Rik, 4930403G18Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.050) question?
Stock #IGL02432
Quality Score
Status
Chromosome4
Chromosomal Location135494790-135537803 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 135508010 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 54 (E54G)
Ref Sequence ENSEMBL: ENSMUSP00000067647 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063707]
Predicted Effect probably damaging
Transcript: ENSMUST00000063707
AA Change: E54G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000067647
Gene: ENSMUSG00000028801
AA Change: E54G

DomainStartEndE-ValueType
Pfam:SHIPPO-rpt 194 224 1.8e-5 PFAM
Pfam:SHIPPO-rpt 232 261 7.9e-6 PFAM
Pfam:SHIPPO-rpt 273 312 1e-4 PFAM
Pfam:SHIPPO-rpt 313 334 8.8e-4 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000116824
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123221
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153891
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik G A 2: 151,472,561 T399M probably benign Het
A830018L16Rik A T 1: 11,748,079 N321I probably damaging Het
Aimp1 T C 3: 132,673,977 T135A probably benign Het
Ascc3 T C 10: 50,700,493 M848T probably damaging Het
Cry2 T C 2: 92,413,667 D387G probably damaging Het
Daxx G A 17: 33,912,337 D413N probably benign Het
Gbp6 A T 5: 105,274,362 V492E probably benign Het
Itpr2 T A 6: 146,325,173 M1358L probably benign Het
Med13l T A 5: 118,738,400 D880E possibly damaging Het
Mmd2 A T 5: 142,575,339 I47N probably damaging Het
Mroh2b G A 15: 4,914,186 M401I probably benign Het
Nrip1 T C 16: 76,291,780 K963R probably benign Het
Otop2 A G 11: 115,329,162 H276R probably damaging Het
Pxn T A 5: 115,545,746 D79E probably damaging Het
Rho G A 6: 115,932,185 V61I probably damaging Het
Rtp1 A G 16: 23,431,404 Y173C probably damaging Het
Slc6a17 T C 3: 107,493,177 D212G possibly damaging Het
Tas2r119 A G 15: 32,177,707 T140A probably benign Het
Traf3ip3 C T 1: 193,184,576 C316Y probably damaging Het
Ttc28 G A 5: 111,223,235 A517T probably damaging Het
Vmn1r30 T C 6: 58,435,670 N59S probably benign Het
Vmn2r4 C T 3: 64,406,400 V387M probably benign Het
Other mutations in Stpg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00336:Stpg1 APN 4 135529545 missense possibly damaging 0.92
IGL00793:Stpg1 APN 4 135506407 utr 5 prime probably benign
IGL02118:Stpg1 APN 4 135508064 splice site probably benign
R0362:Stpg1 UTSW 4 135506466 missense possibly damaging 0.93
R0594:Stpg1 UTSW 4 135519431 missense possibly damaging 0.91
R1233:Stpg1 UTSW 4 135525429 missense probably benign
R2509:Stpg1 UTSW 4 135536649 missense probably benign 0.12
R3743:Stpg1 UTSW 4 135514886 missense probably benign 0.12
R4897:Stpg1 UTSW 4 135519365 missense possibly damaging 0.93
R4933:Stpg1 UTSW 4 135506416 missense probably benign
R5412:Stpg1 UTSW 4 135525475 missense possibly damaging 0.83
R7140:Stpg1 UTSW 4 135533722 missense probably benign 0.01
R7313:Stpg1 UTSW 4 135529516 missense probably damaging 0.97
R8309:Stpg1 UTSW 4 135529592 missense probably benign 0.00
Posted On2015-04-16