Incidental Mutation 'R1612:Stpg3'
ID 176840
Institutional Source Beutler Lab
Gene Symbol Stpg3
Ensembl Gene ENSMUSG00000036770
Gene Name sperm tail PG rich repeat containing 3
Synonyms 4933433C11Rik
MMRRC Submission 039649-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R1612 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 25102219-25104649 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 25103866 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 157 (T157A)
Ref Sequence ENSEMBL: ENSMUSP00000037603 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028346] [ENSMUST00000043774] [ENSMUST00000059849] [ENSMUST00000114363]
AlphaFold A2RSX4
Predicted Effect probably benign
Transcript: ENSMUST00000028346
SMART Domains Protein: ENSMUSP00000028346
Gene: ENSMUSG00000026969

DomainStartEndE-ValueType
Pfam:DUF2475 13 71 8.1e-16 PFAM
low complexity region 130 139 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000043774
AA Change: T157A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000037603
Gene: ENSMUSG00000036770
AA Change: T157A

DomainStartEndE-ValueType
Pfam:SHIPPO-rpt 103 145 9.5e-4 PFAM
Pfam:SHIPPO-rpt 226 255 1.4e-3 PFAM
Pfam:SHIPPO-rpt 265 291 1.4e-3 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000059849
SMART Domains Protein: ENSMUSP00000057731
Gene: ENSMUSG00000013465

DomainStartEndE-ValueType
Pfam:COBRA1 107 578 3.5e-248 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114363
AA Change: T102A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000110003
Gene: ENSMUSG00000036770
AA Change: T102A

DomainStartEndE-ValueType
Pfam:SHIPPO-rpt 48 79 2.8e-4 PFAM
Pfam:SHIPPO-rpt 110 136 1.2e-1 PFAM
Pfam:SHIPPO-rpt 152 200 3.5e-1 PFAM
Pfam:SHIPPO-rpt 210 248 1.9e-3 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124661
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128876
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138199
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149509
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147890
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205741
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155706
Predicted Effect probably benign
Transcript: ENSMUST00000140934
SMART Domains Protein: ENSMUSP00000115698
Gene: ENSMUSG00000013465

DomainStartEndE-ValueType
Pfam:COBRA1 40 204 9.7e-106 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.6%
Validation Efficiency 97% (69/71)
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579G24Rik A G 3: 79,538,451 (GRCm39) T66A probably benign Het
Actb A G 5: 142,891,350 (GRCm39) F31S probably damaging Het
Adamts7 T C 9: 90,070,750 (GRCm39) S624P possibly damaging Het
Adh7 T C 3: 137,934,642 (GRCm39) I355T possibly damaging Het
Arhgef40 A G 14: 52,241,538 (GRCm39) E106G probably damaging Het
Brd10 A G 19: 29,695,245 (GRCm39) V1483A possibly damaging Het
Cabp7 T C 11: 4,689,198 (GRCm39) D149G probably damaging Het
Cass4 A T 2: 172,268,998 (GRCm39) Q362L possibly damaging Het
Cd14 G A 18: 36,858,718 (GRCm39) Q246* probably null Het
Cdr2l A C 11: 115,284,232 (GRCm39) E189D probably benign Het
Col6a6 A G 9: 105,654,748 (GRCm39) V991A probably damaging Het
Coq7 A G 7: 118,109,134 (GRCm39) W305R unknown Het
Cracr2a G T 6: 127,580,892 (GRCm39) G23* probably null Het
Dclk2 C T 3: 86,712,946 (GRCm39) R503Q possibly damaging Het
Epcam T C 17: 87,947,366 (GRCm39) L40P possibly damaging Het
Eps8 G A 6: 137,477,616 (GRCm39) P531S probably benign Het
Faap100 C A 11: 120,267,914 (GRCm39) L286F probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fbn2 A T 18: 58,194,824 (GRCm39) C1446S probably damaging Het
Fmo3 A G 1: 162,795,454 (GRCm39) V127A probably damaging Het
Frem3 A G 8: 81,341,490 (GRCm39) D1261G probably damaging Het
Gabbr1 A G 17: 37,381,561 (GRCm39) Y775C probably damaging Het
Gbp11 G T 5: 105,474,462 (GRCm39) Q405K possibly damaging Het
Gdi2 T A 13: 3,610,051 (GRCm39) V260E probably benign Het
Glp2r C T 11: 67,633,033 (GRCm39) V98M possibly damaging Het
Gm13741 T C 2: 87,486,431 (GRCm39) Y278C probably damaging Het
Gm7732 G A 17: 21,350,177 (GRCm39) noncoding transcript Het
Gnptab T A 10: 88,264,344 (GRCm39) probably null Het
Hbs1l T G 10: 21,234,734 (GRCm39) F596V probably damaging Het
Krt78 A T 15: 101,860,279 (GRCm39) probably null Het
Krt87 A T 15: 101,386,092 (GRCm39) L223Q probably benign Het
Lcmt2 T C 2: 120,969,601 (GRCm39) Y274C probably damaging Het
Limd1 A G 9: 123,347,219 (GRCm39) Y620C probably damaging Het
Lvrn G T 18: 47,027,770 (GRCm39) A862S probably damaging Het
Map4k2 A G 19: 6,393,371 (GRCm39) E206G probably damaging Het
Med16 A G 10: 79,735,079 (GRCm39) S461P probably damaging Het
Mrfap1 C A 5: 36,953,706 (GRCm39) A78S probably damaging Het
Nav2 T A 7: 49,220,959 (GRCm39) N1715K probably damaging Het
Ndc1 A G 4: 107,252,265 (GRCm39) probably benign Het
Ngly1 G T 14: 16,290,867 (GRCm38) G450* probably null Het
Or13c25 T A 4: 52,911,501 (GRCm39) M98L probably benign Het
Or5k3 T C 16: 58,969,987 (GRCm39) M258T probably benign Het
Pde3b T A 7: 114,118,791 (GRCm39) Y643* probably null Het
Pdilt T G 7: 119,086,198 (GRCm39) N506H possibly damaging Het
Pear1 C T 3: 87,659,160 (GRCm39) probably null Het
Pfkp A T 13: 6,638,625 (GRCm39) M582K probably damaging Het
Pigl T A 11: 62,403,820 (GRCm39) F251I probably benign Het
Plk3 A G 4: 116,989,004 (GRCm39) Y252H probably damaging Het
Prdx3 A G 19: 60,862,872 (GRCm39) S12P possibly damaging Het
Prkag2 T C 5: 25,082,026 (GRCm39) I96V probably benign Het
Pwwp3a T A 10: 80,068,889 (GRCm39) probably benign Het
Rgs3 G A 4: 62,544,172 (GRCm39) V146M probably damaging Het
Serpinh1 T C 7: 98,998,138 (GRCm39) D164G probably damaging Het
Slc35d2 T C 13: 64,259,324 (GRCm39) probably benign Het
Slc6a6 A G 6: 91,718,008 (GRCm39) N316D probably damaging Het
Snx14 A T 9: 88,258,958 (GRCm39) M973K possibly damaging Het
Sptan1 C G 2: 29,893,348 (GRCm39) R1126G probably damaging Het
Tmem39b A T 4: 129,580,715 (GRCm39) M259K possibly damaging Het
Tomm40l A T 1: 171,049,471 (GRCm39) probably null Het
Tsen34 G T 7: 3,698,395 (GRCm39) G180W probably damaging Het
Ube2l6 C T 2: 84,636,717 (GRCm39) R54W probably damaging Het
Vdac1 A T 11: 52,274,897 (GRCm39) T182S probably benign Het
Wdr3 T C 3: 100,058,515 (GRCm39) probably benign Het
Wsb1 T A 11: 79,139,411 (GRCm39) Q95L probably benign Het
Other mutations in Stpg3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01116:Stpg3 APN 2 25,103,191 (GRCm39) unclassified probably benign
IGL01450:Stpg3 APN 2 25,104,622 (GRCm39) unclassified probably benign
R1413:Stpg3 UTSW 2 25,103,862 (GRCm39) missense probably damaging 1.00
R3780:Stpg3 UTSW 2 25,103,875 (GRCm39) missense probably benign 0.00
R3781:Stpg3 UTSW 2 25,103,875 (GRCm39) missense probably benign 0.00
R4694:Stpg3 UTSW 2 25,103,309 (GRCm39) missense probably damaging 0.96
R5029:Stpg3 UTSW 2 25,104,576 (GRCm39) missense probably damaging 0.97
R5406:Stpg3 UTSW 2 25,103,580 (GRCm39) nonsense probably null
R7202:Stpg3 UTSW 2 25,104,586 (GRCm39) missense probably damaging 1.00
R8458:Stpg3 UTSW 2 25,103,333 (GRCm39) missense probably damaging 1.00
R9476:Stpg3 UTSW 2 25,103,516 (GRCm39) missense probably benign 0.00
R9510:Stpg3 UTSW 2 25,103,516 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CACTATGAAGAGTCAGGACGCTGC -3'
(R):5'- ACGAGGTGCCCAATATGTCTCTGC -3'

Sequencing Primer
(F):5'- TCAGGACGCTGCAACCTC -3'
(R):5'- TACACCATCGGTCGCAAG -3'
Posted On 2014-04-24