Incidental Mutation 'IGL02747:Tpgs2'
ID306095
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tpgs2
Ensembl Gene ENSMUSG00000024269
Gene Nametubulin polyglutamylase complex subunit 2
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02747
Quality Score
Status
Chromosome18
Chromosomal Location25127223-25169007 bp(-) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) A to G at 25139145 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000122538 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115817] [ENSMUST00000148255]
Predicted Effect probably benign
Transcript: ENSMUST00000115817
SMART Domains Protein: ENSMUSP00000111484
Gene: ENSMUSG00000024269

DomainStartEndE-ValueType
SMI1_KNR4 43 187 1.04e-3 SMART
low complexity region 253 264 N/A INTRINSIC
low complexity region 271 293 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000148255
SMART Domains Protein: ENSMUSP00000122538
Gene: ENSMUSG00000024269

DomainStartEndE-ValueType
SMI1_KNR4 43 187 1.04e-3 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is a component of the neuronal polyglutamylase complex, which plays a role in post-translational addition of glutamate residues to C-terminal tubulin tails. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2012]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,373,282 L3373* probably null Het
Ap1s3 T C 1: 79,623,692 Y94C probably damaging Het
BC048403 A C 10: 121,745,550 Q152P possibly damaging Het
Dbx2 T C 15: 95,632,439 T216A probably benign Het
Dsg4 A G 18: 20,446,938 R67G probably damaging Het
Eng G A 2: 32,672,958 probably null Het
Gm28042 T A 2: 120,031,394 I206N probably damaging Het
Gsdmc4 C T 15: 63,893,871 M276I probably benign Het
Itih2 A G 2: 10,097,945 S793P probably benign Het
Kcnj13 T C 1: 87,389,365 N9D probably benign Het
Krt78 T A 15: 101,950,384 probably benign Het
Megf10 A G 18: 57,290,493 K985E probably benign Het
Naa25 A G 5: 121,414,605 probably benign Het
Olfr918 T C 9: 38,673,084 Y133C probably benign Het
Plekhm2 T C 4: 141,634,272 T307A possibly damaging Het
Ppp1cc A G 5: 122,174,073 K301E probably benign Het
Ralgds T C 2: 28,548,110 probably benign Het
Rccd1 A T 7: 80,320,490 D126E probably benign Het
Reps1 T C 10: 18,123,600 S712P probably damaging Het
Rnf103 T A 6: 71,509,177 I264N probably damaging Het
Rpap1 A G 2: 119,774,128 I433T probably damaging Het
Ryr2 T G 13: 11,655,677 N3478H probably damaging Het
Sox30 A G 11: 45,980,945 D209G probably benign Het
Sox6 A G 7: 115,489,746 F628S probably damaging Het
Tas1r3 C T 4: 155,860,460 G768D possibly damaging Het
Tesk2 T C 4: 116,802,879 V398A probably benign Het
Tmem135 A T 7: 89,144,670 I388N probably damaging Het
Vmn2r120 G A 17: 57,524,719 H357Y probably benign Het
Other mutations in Tpgs2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02160:Tpgs2 APN 18 25140580 missense possibly damaging 0.93
IGL02184:Tpgs2 APN 18 25140573 missense probably damaging 1.00
IGL02234:Tpgs2 APN 18 25149244 critical splice acceptor site probably null
PIT4466001:Tpgs2 UTSW 18 25168595 missense possibly damaging 0.77
PIT4472001:Tpgs2 UTSW 18 25168595 missense possibly damaging 0.77
R0004:Tpgs2 UTSW 18 25158238 splice site probably benign
R0139:Tpgs2 UTSW 18 25149185 missense probably damaging 1.00
R0898:Tpgs2 UTSW 18 25149150 missense probably damaging 1.00
R1415:Tpgs2 UTSW 18 25168553 missense probably damaging 1.00
R1590:Tpgs2 UTSW 18 25140573 missense probably damaging 1.00
R1974:Tpgs2 UTSW 18 25140536 missense probably damaging 1.00
R2144:Tpgs2 UTSW 18 25168541 missense possibly damaging 0.93
R4811:Tpgs2 UTSW 18 25129840 intron probably benign
R4851:Tpgs2 UTSW 18 25151248 missense possibly damaging 0.94
R6386:Tpgs2 UTSW 18 25139024 missense possibly damaging 0.74
R6564:Tpgs2 UTSW 18 25158287 missense probably damaging 0.99
R6788:Tpgs2 UTSW 18 25129870 missense probably benign 0.04
R7112:Tpgs2 UTSW 18 25149137 missense probably damaging 1.00
Posted On2015-04-16