Incidental Mutation 'IGL02303:Tpgs1'
ID287474
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: 0.213) question?
Stock #IGL02303
Quality Score
Status
Chromosome10
Chromosomal Location79669369-79676127 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 79675488 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 155 (Y155H)
Ref Sequence ENSEMBL: ENSMUSP00000020552 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020552]
Predicted Effect probably damaging
Transcript: ENSMUST00000020552
AA Change: Y155H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020552
Gene: ENSMUSG00000020308
AA Change: Y155H

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A G 11: 110,154,550 F319S probably damaging Het
Ap3b1 A G 13: 94,528,319 D922G unknown Het
Bhlhe41 A T 6: 145,864,156 H107Q probably damaging Het
Csmd2 C A 4: 128,369,008 H662Q probably benign Het
Dnah8 T C 17: 30,713,047 V1463A probably benign Het
Ebf3 A T 7: 137,309,365 V140E probably benign Het
Havcr2 T A 11: 46,479,281 probably benign Het
Hexb G A 13: 97,176,893 A485V probably damaging Het
Igkv5-37 T A 6: 69,963,489 Q57L probably damaging Het
Ipo5 T A 14: 120,917,383 S40T probably benign Het
Kcnj8 A G 6: 142,570,111 M90T probably benign Het
Kif21b T A 1: 136,159,757 L937Q probably damaging Het
Kmt2c A C 5: 25,310,157 L2896R probably damaging Het
Ldlrap1 A T 4: 134,757,395 I96N probably damaging Het
Leo1 A G 9: 75,445,999 probably benign Het
Mbnl2 T C 14: 120,404,647 M341T probably benign Het
Nfatc2 G A 2: 168,506,901 R669* probably null Het
Nhlrc2 T A 19: 56,574,848 V293E probably damaging Het
Olfr23 T C 11: 73,940,450 F68S possibly damaging Het
Olfr521 A G 7: 99,767,972 D270G possibly damaging Het
Olfr610 A T 7: 103,506,088 M286K probably benign Het
Olfr632 A G 7: 103,937,563 Q61R possibly damaging Het
Otoa T A 7: 121,132,924 probably null Het
Pcnt T C 10: 76,442,559 probably benign Het
Recql4 G T 15: 76,708,571 Q307K possibly damaging Het
Sp140 T A 1: 85,643,009 Y453* probably null Het
Sspo G A 6: 48,484,705 V3600I possibly damaging Het
Sybu T C 15: 44,673,223 E441G probably benign Het
Syne3 A T 12: 104,963,294 H222Q probably damaging Het
Tef T C 15: 81,821,295 V173A probably benign Het
Tlcd1 A G 11: 78,180,334 probably null Het
Tmod4 C A 3: 95,125,642 Q30K probably benign Het
Trib3 G A 2: 152,343,150 P60S probably benign Het
Ttn T A 2: 76,730,206 T20957S probably damaging Het
Vars T C 17: 35,015,484 probably benign Het
Vps13c T C 9: 67,945,481 probably benign Het
Zc3h4 T C 7: 16,434,077 S704P unknown Het
Zfp644 G A 5: 106,637,314 R456W probably damaging Het
Other mutations in Tpgs1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02357:Tpgs1 APN 10 79675759 missense probably benign 0.00
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