Incidental Mutation 'IGL02568:Tpgs1'
ID 298932
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 # IGL02568
Quality Score
Status
Chromosome 10
Chromosomal Location 79505273-79511961 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to A at 79505238 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000151928 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020552] [ENSMUST00000020554] [ENSMUST00000217748]
AlphaFold Q99MS8
Predicted Effect probably benign
Transcript: ENSMUST00000020552
SMART Domains Protein: ENSMUSP00000020552
Gene: ENSMUSG00000020308

DomainStartEndE-ValueType
low complexity region 94 114 N/A INTRINSIC
Blast:UBCc 125 156 9e-12 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000020554
SMART Domains Protein: ENSMUSP00000020554
Gene: ENSMUSG00000020310

DomainStartEndE-ValueType
low complexity region 5 13 N/A INTRINSIC
Pfam:ICAM_N 21 114 7.3e-8 PFAM
Pfam:Adhes-Ig_like 110 220 2.4e-57 PFAM
Blast:IG_like 278 354 3e-14 BLAST
transmembrane domain 366 388 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000217748
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 A G 15: 91,033,184 (GRCm39) probably benign Het
Abcg5 C T 17: 84,977,827 (GRCm39) R143Q probably damaging Het
Arap3 G A 18: 38,129,711 (GRCm39) T150I probably benign Het
Arhgap32 T C 9: 32,158,490 (GRCm39) V175A probably damaging Het
Bpifb3 A G 2: 153,766,721 (GRCm39) E208G probably benign Het
C2 T A 17: 35,083,325 (GRCm39) D518V possibly damaging Het
C6 T A 15: 4,820,646 (GRCm39) C552* probably null Het
Ccdc38 A T 10: 93,415,685 (GRCm39) D447V probably damaging Het
Cept1 C T 3: 106,411,035 (GRCm39) R386H probably benign Het
Comt A G 16: 18,230,454 (GRCm39) V85A probably damaging Het
Ddx24 G T 12: 103,383,571 (GRCm39) L627I probably damaging Het
Efemp1 T C 11: 28,866,971 (GRCm39) probably null Het
Etf1 T C 18: 35,046,714 (GRCm39) T99A possibly damaging Het
Fhad1 T C 4: 141,660,105 (GRCm39) E68G probably null Het
Fzd3 C A 14: 65,473,389 (GRCm39) probably benign Het
Gins3 T C 8: 96,364,606 (GRCm39) F119L probably benign Het
Golga5 G T 12: 102,438,338 (GRCm39) V18L probably benign Het
Il16 C A 7: 83,310,484 (GRCm39) R474M probably damaging Het
Itpr1 C A 6: 108,316,515 (GRCm39) Q71K possibly damaging Het
Kif21b T G 1: 136,100,605 (GRCm39) L1562R probably damaging Het
Lamc2 T C 1: 153,042,008 (GRCm39) E42G possibly damaging Het
Mmp3 T G 9: 7,446,001 (GRCm39) L35R probably benign Het
Naip6 C A 13: 100,452,780 (GRCm39) G94W probably damaging Het
Nccrp1 G A 7: 28,243,905 (GRCm39) A226V probably damaging Het
Nckap5l A G 15: 99,323,564 (GRCm39) Y980H probably damaging Het
Ncoa3 T C 2: 165,911,277 (GRCm39) S1345P probably damaging Het
Nop2 T C 6: 125,117,813 (GRCm39) S455P probably damaging Het
Nup93 T C 8: 95,036,263 (GRCm39) F689S probably damaging Het
Or5b112 T C 19: 13,319,583 (GRCm39) F154L probably benign Het
Plekhm1 T A 11: 103,285,876 (GRCm39) E186D probably damaging Het
Plxdc1 T C 11: 97,869,390 (GRCm39) Q66R probably damaging Het
Prkdc T G 16: 15,544,406 (GRCm39) Y1799D probably damaging Het
Rasa2 A G 9: 96,462,563 (GRCm39) F220L probably damaging Het
Rftn1 T C 17: 50,344,027 (GRCm39) D87G probably damaging Het
Rgs6 C T 12: 83,117,376 (GRCm39) T266M probably benign Het
Sec16a A G 2: 26,326,054 (GRCm39) Y1208H probably damaging Het
Slc12a1 G T 2: 125,026,648 (GRCm39) V428L probably damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Svep1 T A 4: 58,135,441 (GRCm39) T556S probably benign Het
Tanc2 T A 11: 105,667,777 (GRCm39) N119K probably benign Het
Tpm3-rs7 A G 14: 113,552,370 (GRCm39) E88G probably damaging Het
Tsr1 T C 11: 74,791,204 (GRCm39) V261A probably benign Het
Usp18 C T 6: 121,238,050 (GRCm39) T143I probably benign Het
Vmn2r24 T C 6: 123,792,812 (GRCm39) I713T probably benign Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Other mutations in Tpgs1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02303:Tpgs1 APN 10 79,511,322 (GRCm39) missense probably damaging 1.00
IGL02357:Tpgs1 APN 10 79,511,593 (GRCm39) missense probably benign 0.00
IGL02418:Tpgs1 APN 10 79,505,289 (GRCm39) missense probably benign 0.02
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