Incidental Mutation 'IGL02357:Tpgs1'
ID290596
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tpgs1
Ensembl Gene ENSMUSG00000020308
Gene Nametubulin polyglutamylase complex subunit 1
SynonymsGtrgeo22, Gm16517
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.194) question?
Stock #IGL02357
Quality Score
Status
Chromosome10
Chromosomal Location79669369-79676127 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 79675759 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 245 (D245G)
Ref Sequence ENSEMBL: ENSMUSP00000020552 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020552]
Predicted Effect probably benign
Transcript: ENSMUST00000020552
AA Change: D245G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000020552
Gene: ENSMUSG00000020308
AA Change: D245G

DomainStartEndE-ValueType
low complexity region 94 114 N/A INTRINSIC
Blast:UBCc 125 156 9e-12 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219585
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220175
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Male mice homozygous for a gene trapped allele are sterile due to abnormal development of the spermatid flagellum. Adult males display a striking deficit in intermale aggression and reduced body fat, not due to an altered resting metabolic rate or hypophagia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110035E14Rik T C 1: 9,613,319 I44T possibly damaging Het
Abhd8 A G 8: 71,461,477 V169A probably benign Het
Adamts16 T A 13: 70,738,585 T1029S probably benign Het
Adgrv1 C A 13: 81,270,855 C6007F probably benign Het
Ak8 A T 2: 28,700,213 H8L probably benign Het
Apol7b A G 15: 77,423,632 V221A probably benign Het
BC005624 G A 2: 30,973,767 P235S probably benign Het
Casp9 C A 4: 141,805,472 D226E probably benign Het
Cd96 A G 16: 46,069,776 probably benign Het
Celf1 A T 2: 90,998,588 K27I probably damaging Het
Cfap65 A T 1: 74,928,348 C190* probably null Het
Cib2 A T 9: 54,549,886 H31Q probably damaging Het
Cyp3a59 T C 5: 146,079,342 L3P probably damaging Het
Dnajc13 T C 9: 104,162,359 M2104V possibly damaging Het
Emb A G 13: 117,249,471 probably benign Het
Fbn2 G T 18: 58,103,995 N645K possibly damaging Het
Fes T C 7: 80,383,830 probably null Het
Flnc A T 6: 29,438,493 K129* probably null Het
Gckr C A 5: 31,307,790 H368N possibly damaging Het
Gm5145 A T 17: 20,570,440 I27F probably damaging Het
Hecw1 A G 13: 14,248,338 probably null Het
Hook2 C T 8: 84,994,985 Q291* probably null Het
Jakmip2 T C 18: 43,547,127 T722A possibly damaging Het
Kcnt2 A G 1: 140,351,269 I53V probably benign Het
Lipo2 A G 19: 33,730,948 L222P possibly damaging Het
Mrc2 A G 11: 105,325,721 D112G probably damaging Het
Mroh2b A G 15: 4,912,000 N338S probably benign Het
Mrpl23 T A 7: 142,536,065 probably benign Het
Myo18a A G 11: 77,850,247 N1442S probably benign Het
Ngdn T A 14: 55,021,936 V179E probably damaging Het
Nxn A G 11: 76,274,654 probably benign Het
Olfr1349 T A 7: 6,515,226 M68L probably damaging Het
Olfr1535 A G 13: 21,555,602 L140P probably damaging Het
Osmr A T 15: 6,828,663 N441K probably benign Het
Plcb3 A C 19: 6,958,178 L789R probably damaging Het
Plek C T 11: 16,981,846 R335H probably damaging Het
Pmp22 G T 11: 63,158,308 V126F probably benign Het
Prom1 A G 5: 44,029,604 probably benign Het
Prss1 C A 6: 41,463,205 Q159K probably damaging Het
Psd3 G T 8: 67,963,869 H459N probably benign Het
Rusc2 T G 4: 43,425,351 V1152G possibly damaging Het
Slc16a4 A G 3: 107,303,099 I362V probably benign Het
Slc22a22 A G 15: 57,247,448 V461A probably benign Het
Slc35e4 C T 11: 3,912,640 R183Q probably benign Het
Spen T C 4: 141,477,579 T1246A unknown Het
Syt16 T C 12: 74,266,842 V514A probably benign Het
Tdpoz2 A G 3: 93,652,428 V79A possibly damaging Het
Ttn A G 2: 76,709,619 V34341A probably benign Het
Wwox T C 8: 114,712,142 V316A possibly damaging Het
Other mutations in Tpgs1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02303:Tpgs1 APN 10 79675488 missense probably damaging 1.00
IGL02418:Tpgs1 APN 10 79669455 missense probably benign 0.02
IGL02568:Tpgs1 APN 10 79669404 unclassified probably benign
R0220:Tpgs1 UTSW 10 79675437 missense possibly damaging 0.75
R0243:Tpgs1 UTSW 10 79675866 missense probably benign 0.02
R0558:Tpgs1 UTSW 10 79675782 missense probably damaging 0.99
R1507:Tpgs1 UTSW 10 79675786 missense probably damaging 1.00
R1732:Tpgs1 UTSW 10 79675594 missense possibly damaging 0.85
R1800:Tpgs1 UTSW 10 79675510 missense possibly damaging 0.94
R2011:Tpgs1 UTSW 10 79675888 missense probably damaging 1.00
R2973:Tpgs1 UTSW 10 79669615 missense probably damaging 1.00
R2974:Tpgs1 UTSW 10 79669615 missense probably damaging 1.00
R4035:Tpgs1 UTSW 10 79669365 unclassified probably null
R4690:Tpgs1 UTSW 10 79675401 missense probably benign 0.00
R4751:Tpgs1 UTSW 10 79675620 missense possibly damaging 0.60
R4995:Tpgs1 UTSW 10 79669491 missense probably benign 0.07
R5682:Tpgs1 UTSW 10 79675587 missense probably damaging 1.00
R5860:Tpgs1 UTSW 10 79669711 missense probably damaging 1.00
R6275:Tpgs1 UTSW 10 79675520 missense probably benign 0.02
R7423:Tpgs1 UTSW 10 79675821 missense probably damaging 0.98
Posted On2015-04-16