Incidental Mutation 'IGL00336:Stpg1'
ID 6556
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stpg1
Ensembl Gene ENSMUSG00000028801
Gene Name sperm tail PG rich repeat containing 1
Synonyms 4930555I21Rik, 4930403G18Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.059) question?
Stock # IGL00336
Quality Score
Status
Chromosome 4
Chromosomal Location 135494790-135537803 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 135529545 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 216 (S216T)
Ref Sequence ENSEMBL: ENSMUSP00000067647 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063707]
AlphaFold Q9D2F5
Predicted Effect possibly damaging
Transcript: ENSMUST00000063707
AA Change: S216T

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000067647
Gene: ENSMUSG00000028801
AA Change: S216T

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: ENSMUST00000123221
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010111I01Rik A T 13: 63,015,423 D86V possibly damaging Het
A430033K04Rik A G 5: 138,647,104 Y417C probably damaging Het
Adam28 T A 14: 68,622,120 H548L possibly damaging Het
AF529169 T C 9: 89,603,143 D67G probably damaging Het
Agbl3 A T 6: 34,846,836 D812V probably damaging Het
Aox1 T A 1: 58,059,044 L305Q probably damaging Het
Arhgef38 A G 3: 133,132,051 V706A probably benign Het
Arl15 A G 13: 114,154,752 I171V probably benign Het
Cacna1s C A 1: 136,084,273 Y237* probably null Het
Ccnt1 T C 15: 98,565,109 T61A possibly damaging Het
Col25a1 T A 3: 130,181,784 probably benign Het
Col4a1 T A 8: 11,240,077 probably benign Het
Dcun1d1 T C 3: 35,916,306 E130G possibly damaging Het
Dnah7b G A 1: 46,142,149 M1065I probably benign Het
Ephb2 T G 4: 136,657,484 K872T probably damaging Het
Fga G A 3: 83,031,674 G452D probably damaging Het
Flrt1 T A 19: 7,096,912 N90I probably damaging Het
Fut10 T A 8: 31,195,291 probably null Het
Gm4553 T C 7: 142,165,227 S155G unknown Het
Gpr137b T C 13: 13,374,415 probably benign Het
Gprc5d G A 6: 135,116,490 Q140* probably null Het
Ifi27l2b T C 12: 103,451,217 K237R unknown Het
Ipo8 A T 6: 148,782,786 M836K possibly damaging Het
Kcnq4 G A 4: 120,698,016 Q657* probably null Het
Lama1 A T 17: 67,813,948 H2693L probably benign Het
Lrrc23 A G 6: 124,778,926 W40R probably damaging Het
Morn2 C A 17: 80,295,504 probably benign Het
Ms4a6b T A 19: 11,529,490 N214K possibly damaging Het
Nags A T 11: 102,149,066 S527C probably damaging Het
Ndst1 C T 18: 60,707,956 G218D probably damaging Het
Olfr1097 C T 2: 86,890,245 C310Y probably benign Het
Olfr1442 T A 19: 12,674,560 Y118* probably null Het
Olfr16 G A 1: 172,957,478 V228M probably benign Het
Oxa1l G T 14: 54,363,345 G92* probably null Het
Parp16 A T 9: 65,229,963 E157V probably damaging Het
Pcdh17 A T 14: 84,447,544 I484F probably damaging Het
Pex16 A G 2: 92,379,235 R263G probably benign Het
Pkd1l3 G A 8: 109,630,237 E765K possibly damaging Het
Plce1 T C 19: 38,651,906 V532A probably damaging Het
Polq A G 16: 37,065,247 probably benign Het
Pramel5 T C 4: 144,271,621 T351A probably damaging Het
Prokr1 A T 6: 87,588,611 I84N probably damaging Het
Prss30 A T 17: 23,973,721 S162T probably benign Het
Ranbp2 A G 10: 58,451,984 K25E probably damaging Het
Rapsn A G 2: 91,035,860 T22A probably damaging Het
Rhoj G T 12: 75,308,906 G9V probably damaging Het
Rnf213 A G 11: 119,449,343 R3467G probably benign Het
Rreb1 C A 13: 37,929,646 S327* probably null Het
Scn5a G A 9: 119,486,224 P1806L probably damaging Het
Sema6a C A 18: 47,289,975 probably null Het
Stag3 G A 5: 138,297,659 E416K probably benign Het
Tfeb C A 17: 47,791,664 N426K probably benign Het
Trp53bp1 G T 2: 121,256,579 Q199K possibly damaging Het
Ubr4 A G 4: 139,428,566 D2234G probably damaging Het
Ush1c T G 7: 46,196,770 Q866P probably benign Het
Vdr T A 15: 97,884,854 D29V probably damaging Het
Vps13c T C 9: 67,945,942 V2439A probably benign Het
Xirp2 T C 2: 67,512,598 S1728P possibly damaging Het
Zfp9 A G 6: 118,464,475 S409P probably damaging Het
Other mutations in Stpg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00793:Stpg1 APN 4 135506407 utr 5 prime probably benign
IGL02118:Stpg1 APN 4 135508064 splice site probably benign
IGL02432:Stpg1 APN 4 135508010 missense probably damaging 0.96
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
R8787:Stpg1 UTSW 4 135533797 missense probably benign 0.04
R9274:Stpg1 UTSW 4 135525471 missense possibly damaging 0.85
Posted On 2012-04-20