Incidental Mutation 'IGL02357:Tpgs1'
ID 290596
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tpgs1
Ensembl Gene ENSMUSG00000020308
Gene Name tubulin polyglutamylase complex subunit 1
Synonyms Gm16517, Gtrgeo22
Accession Numbers
Essential gene? Probably non essential (E-score: 0.147) question?
Stock # IGL02357
Quality Score
Status
Chromosome 10
Chromosomal Location 79505273-79511961 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 79511593 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q99MS8
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
Abhd8 A G 8: 71,914,121 (GRCm39) V169A probably benign Het
Adamts16 T A 13: 70,886,704 (GRCm39) T1029S probably benign Het
Adgrv1 C A 13: 81,418,974 (GRCm39) C6007F probably benign Het
Ak8 A T 2: 28,590,225 (GRCm39) H8L probably benign Het
Apol7b A G 15: 77,307,832 (GRCm39) V221A probably benign Het
BC005624 G A 2: 30,863,779 (GRCm39) P235S probably benign Het
Casp9 C A 4: 141,532,783 (GRCm39) D226E probably benign Het
Cd96 A G 16: 45,890,139 (GRCm39) probably benign Het
Celf1 A T 2: 90,828,933 (GRCm39) K27I probably damaging Het
Cfap65 A T 1: 74,967,507 (GRCm39) C190* probably null Het
Cib2 A T 9: 54,457,170 (GRCm39) H31Q probably damaging Het
Cyp3a59 T C 5: 146,016,152 (GRCm39) L3P probably damaging Het
Dnajc13 T C 9: 104,039,558 (GRCm39) M2104V possibly damaging Het
Emb A G 13: 117,386,007 (GRCm39) probably benign Het
Fbn2 G T 18: 58,237,067 (GRCm39) N645K possibly damaging Het
Fes T C 7: 80,033,578 (GRCm39) probably null Het
Flnc A T 6: 29,438,492 (GRCm39) K129* probably null Het
Gckr C A 5: 31,465,134 (GRCm39) H368N possibly damaging Het
Gm5145 A T 17: 20,790,702 (GRCm39) I27F probably damaging Het
Hecw1 A G 13: 14,422,923 (GRCm39) probably null Het
Hook2 C T 8: 85,721,614 (GRCm39) Q291* probably null Het
Jakmip2 T C 18: 43,680,192 (GRCm39) T722A possibly damaging Het
Kcnt2 A G 1: 140,279,007 (GRCm39) I53V probably benign Het
Lipo2 A G 19: 33,708,348 (GRCm39) L222P possibly damaging Het
Mrc2 A G 11: 105,216,547 (GRCm39) D112G probably damaging Het
Mroh2b A G 15: 4,941,482 (GRCm39) N338S probably benign Het
Mrpl23 T A 7: 142,089,802 (GRCm39) probably benign Het
Myo18a A G 11: 77,741,073 (GRCm39) N1442S probably benign Het
Ngdn T A 14: 55,259,393 (GRCm39) V179E probably damaging Het
Nxn A G 11: 76,165,480 (GRCm39) probably benign Het
Or10am5 T A 7: 6,518,225 (GRCm39) M68L probably damaging Het
Or2b7 A G 13: 21,739,772 (GRCm39) L140P probably damaging Het
Osmr A T 15: 6,858,144 (GRCm39) N441K probably benign Het
Plcb3 A C 19: 6,935,546 (GRCm39) L789R probably damaging Het
Plek C T 11: 16,931,846 (GRCm39) R335H probably damaging Het
Pmp22 G T 11: 63,049,134 (GRCm39) V126F probably benign Het
Prom1 A G 5: 44,186,946 (GRCm39) probably benign Het
Prss1 C A 6: 41,440,139 (GRCm39) Q159K probably damaging Het
Psd3 G T 8: 68,416,521 (GRCm39) H459N probably benign Het
Rusc2 T G 4: 43,425,351 (GRCm39) V1152G possibly damaging Het
Slc16a4 A G 3: 107,210,415 (GRCm39) I362V probably benign Het
Slc22a22 A G 15: 57,110,844 (GRCm39) V461A probably benign Het
Slc35e4 C T 11: 3,862,640 (GRCm39) R183Q probably benign Het
Spen T C 4: 141,204,890 (GRCm39) T1246A unknown Het
Syt16 T C 12: 74,313,616 (GRCm39) V514A probably benign Het
Tdpoz2 A G 3: 93,559,735 (GRCm39) V79A possibly damaging Het
Ttn A G 2: 76,539,963 (GRCm39) V34341A probably benign Het
Vxn T C 1: 9,683,544 (GRCm39) I44T possibly damaging Het
Wwox T C 8: 115,438,882 (GRCm39) V316A possibly damaging Het
Other mutations in Tpgs1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02303:Tpgs1 APN 10 79,511,322 (GRCm39) missense probably damaging 1.00
IGL02418:Tpgs1 APN 10 79,505,289 (GRCm39) missense probably benign 0.02
IGL02568:Tpgs1 APN 10 79,505,238 (GRCm39) unclassified probably benign
R0220:Tpgs1 UTSW 10 79,511,271 (GRCm39) missense possibly damaging 0.75
R0243:Tpgs1 UTSW 10 79,511,700 (GRCm39) missense probably benign 0.02
R0558:Tpgs1 UTSW 10 79,511,616 (GRCm39) missense probably damaging 0.99
R1507:Tpgs1 UTSW 10 79,511,620 (GRCm39) missense probably damaging 1.00
R1732:Tpgs1 UTSW 10 79,511,428 (GRCm39) missense possibly damaging 0.85
R1800:Tpgs1 UTSW 10 79,511,344 (GRCm39) missense possibly damaging 0.94
R2011:Tpgs1 UTSW 10 79,511,722 (GRCm39) missense probably damaging 1.00
R2973:Tpgs1 UTSW 10 79,505,449 (GRCm39) missense probably damaging 1.00
R2974:Tpgs1 UTSW 10 79,505,449 (GRCm39) missense probably damaging 1.00
R4035:Tpgs1 UTSW 10 79,505,199 (GRCm39) splice site probably null
R4690:Tpgs1 UTSW 10 79,511,235 (GRCm39) missense probably benign 0.00
R4751:Tpgs1 UTSW 10 79,511,454 (GRCm39) missense possibly damaging 0.60
R4995:Tpgs1 UTSW 10 79,505,325 (GRCm39) missense probably benign 0.07
R5682:Tpgs1 UTSW 10 79,511,421 (GRCm39) missense probably damaging 1.00
R5860:Tpgs1 UTSW 10 79,505,545 (GRCm39) missense probably damaging 1.00
R6275:Tpgs1 UTSW 10 79,511,354 (GRCm39) missense probably benign 0.02
R7423:Tpgs1 UTSW 10 79,511,655 (GRCm39) missense probably damaging 0.98
Posted On 2015-04-16