Incidental Mutation 'R2973:Tpgs1'
ID 255287
Institutional Source Beutler Lab
Gene Symbol Tpgs1
Ensembl Gene ENSMUSG00000020308
Gene Name tubulin polyglutamylase complex subunit 1
Synonyms Gm16517, Gtrgeo22
MMRRC Submission 040526-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.147) question?
Stock # R2973 (G1)
Quality Score 199
Status Validated
Chromosome 10
Chromosomal Location 79505273-79511961 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 79505449 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 69 (E69G)
Ref Sequence ENSEMBL: ENSMUSP00000020552 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020552] [ENSMUST00000020554] [ENSMUST00000217748]
AlphaFold Q99MS8
Predicted Effect probably damaging
Transcript: ENSMUST00000020552
AA Change: E69G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000020552
Gene: ENSMUSG00000020308
AA Change: E69G

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
Meta Mutation Damage Score 0.3439 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 98% (44/45)
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
Abca7 T G 10: 79,844,801 (GRCm39) F1508V probably damaging Het
Angptl7 T A 4: 148,584,671 (GRCm39) K26* probably null Het
Aoc1l1 A G 6: 48,953,358 (GRCm39) T428A probably benign Het
BC048507 T C 13: 68,011,749 (GRCm39) I42T probably benign Het
Cald1 A G 6: 34,734,931 (GRCm39) probably benign Het
Ces5a A G 8: 94,255,132 (GRCm39) F187S probably damaging Het
Chd3 A G 11: 69,251,442 (GRCm39) Y530H probably damaging Het
Crnkl1 A G 2: 145,774,181 (GRCm39) L94P probably benign Het
Cst9 G T 2: 148,677,145 (GRCm39) probably null Het
Cstdc2 T C 2: 148,692,706 (GRCm39) D32G probably benign Het
D930007J09Rik C T 13: 32,986,742 (GRCm39) probably benign Het
Dcaf10 T C 4: 45,373,957 (GRCm39) S461P probably benign Het
Dhx36 T A 3: 62,402,916 (GRCm39) N279Y probably benign Het
Dhx36 C G 3: 62,402,919 (GRCm39) G278R possibly damaging Het
Eps8l3 T C 3: 107,798,644 (GRCm39) I510T probably damaging Het
Gab2 A G 7: 96,872,759 (GRCm39) E54G probably benign Het
Gsdme A G 6: 50,206,304 (GRCm39) C180R probably damaging Het
Hesx1 A G 14: 26,722,599 (GRCm39) probably benign Het
Il5ra G A 6: 106,718,196 (GRCm39) P86L probably benign Het
Jakmip1 A G 5: 37,248,871 (GRCm39) K177R probably damaging Het
Larp4b T C 13: 9,216,347 (GRCm39) probably benign Het
Lrrc42 A T 4: 107,096,311 (GRCm39) D40E probably damaging Het
Mefv G A 16: 3,533,558 (GRCm39) R238* probably null Het
Mroh9 A T 1: 162,884,338 (GRCm39) M400K probably damaging Het
Or12j2 T G 7: 139,916,300 (GRCm39) F175C probably damaging Het
Or5ac22 A C 16: 59,135,767 (GRCm39) M1R probably null Het
Or5d37 A G 2: 87,923,458 (GRCm39) L274P probably benign Het
Plec C G 15: 76,072,961 (GRCm39) G631R probably damaging Het
Polr3b A G 10: 84,464,144 (GRCm39) K35E probably benign Het
Ppef2 T C 5: 92,386,953 (GRCm39) E328G probably benign Het
Rogdi G T 16: 4,829,526 (GRCm39) Q90K probably damaging Het
Rtn1 C A 12: 72,270,163 (GRCm39) R116L probably damaging Het
Septin14 T C 5: 129,776,086 (GRCm39) H31R probably benign Het
Serpinb9e T A 13: 33,439,126 (GRCm39) V184E probably benign Het
Slc10a5 A T 3: 10,399,517 (GRCm39) I381N probably damaging Het
Slit1 G A 19: 41,599,455 (GRCm39) P1032L probably benign Het
Sptlc3 A G 2: 139,431,581 (GRCm39) T368A probably damaging Het
Tm9sf1 T A 14: 55,878,571 (GRCm39) T274S probably benign Het
Trpv5 T C 6: 41,630,165 (GRCm39) S642G possibly damaging Het
Ttn A C 2: 76,632,661 (GRCm39) I12385S probably damaging Het
Ube2e2 T C 14: 18,630,321 (GRCm38) D137G possibly damaging Het
Ubr4 T C 4: 139,133,847 (GRCm39) Y748H probably benign Het
Ugt8a T C 3: 125,708,957 (GRCm39) H51R probably benign Het
Vcp T A 4: 42,996,315 (GRCm39) I16F probably damaging Het
Vmn2r117 A G 17: 23,678,830 (GRCm39) V798A 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
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
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
Predicted Primers PCR Primer
(F):5'- TGAATTATGGCGGCGCTTCC -3'
(R):5'- GGGAATTGTAGTTCTGGTACCCC -3'

Sequencing Primer
(F):5'- GCTGCCCCCAACAAAGATGG -3'
(R):5'- CATCGGTCCGCACCTCTG -3'
Posted On 2014-12-29