Incidental Mutation 'R0013:Tppp'
ID 7994
Institutional Source Beutler Lab
Gene Symbol Tppp
Ensembl Gene ENSMUSG00000021573
Gene Name tubulin polymerization promoting protein
Synonyms 2900041A09Rik
MMRRC Submission 038308-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0013 (G1)
Quality Score
Status Validated
Chromosome 13
Chromosomal Location 74157538-74183872 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 74169479 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 73 (K73R)
Ref Sequence ENSEMBL: ENSMUSP00000022057 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022057]
AlphaFold Q7TQD2
Predicted Effect possibly damaging
Transcript: ENSMUST00000022057
AA Change: K73R

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000022057
Gene: ENSMUSG00000021573
AA Change: K73R

DomainStartEndE-ValueType
low complexity region 5 20 N/A INTRINSIC
Pfam:p25-alpha 51 212 3.7e-73 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000120029
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123284
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140217
Meta Mutation Damage Score 0.3031 question?
Coding Region Coverage
  • 1x: 79.5%
  • 3x: 71.1%
  • 10x: 47.6%
  • 20x: 27.2%
Validation Efficiency 94% (77/82)
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adnp2 A T 18: 80,172,960 (GRCm39) V483D probably damaging Het
Agl A T 3: 116,570,257 (GRCm39) C911* probably null Het
Arap2 G A 5: 62,840,827 (GRCm39) L680F probably damaging Het
C2cd3 T A 7: 100,065,269 (GRCm39) L685H probably damaging Het
Dhx33 A T 11: 70,884,461 (GRCm39) F448L probably damaging Het
Dnmbp G A 19: 43,890,670 (GRCm39) P366S probably benign Het
Elmod1 G A 9: 53,820,185 (GRCm39) probably benign Het
Galnt18 T C 7: 111,153,664 (GRCm39) N320S probably damaging Het
Glp2r C A 11: 67,600,538 (GRCm39) G437V possibly damaging Het
Gm9936 A G 5: 114,995,408 (GRCm39) probably benign Het
Helz2 C A 2: 180,874,552 (GRCm39) G1981C probably damaging Het
Ints11 T C 4: 155,971,625 (GRCm39) F315S probably damaging Het
Itga11 A T 9: 62,683,895 (GRCm39) N1059Y possibly damaging Het
Kdm5d A T Y: 941,715 (GRCm39) K1305N probably benign Homo
Mboat7 A G 7: 3,686,821 (GRCm39) S340P probably damaging Het
Mex3c G A 18: 73,723,622 (GRCm39) A572T probably benign Het
Myo9a A T 9: 59,767,489 (GRCm39) probably benign Het
Myog T A 1: 134,217,973 (GRCm39) H60Q probably damaging Het
Pgm5 A C 19: 24,710,904 (GRCm39) probably null Het
Plb1 T A 5: 32,506,959 (GRCm39) probably benign Het
Ppm1e A G 11: 87,139,884 (GRCm39) probably benign Het
Prss46 G T 9: 110,679,123 (GRCm39) S108I probably damaging Het
Ptma C T 1: 86,457,498 (GRCm39) probably benign Het
Ptprc T C 1: 138,041,297 (GRCm39) probably null Het
Rrn3 T A 16: 13,630,977 (GRCm39) D604E possibly damaging Het
Scn4a A G 11: 106,239,231 (GRCm39) probably benign Het
Sis A G 3: 72,817,809 (GRCm39) L1468P possibly damaging Het
Slit3 A G 11: 35,598,745 (GRCm39) M1450V probably benign Het
Tut4 T A 4: 108,388,152 (GRCm39) probably benign Het
Uba7 A T 9: 107,855,448 (GRCm39) Y375F probably damaging Het
Ugcg T C 4: 59,213,931 (GRCm39) L171P possibly damaging Het
Vsig2 T C 9: 37,453,872 (GRCm39) probably benign Het
Zfp839 T A 12: 110,834,820 (GRCm39) S692T possibly damaging Het
Other mutations in Tppp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02325:Tppp APN 13 74,169,295 (GRCm39) missense probably benign
IGL03244:Tppp APN 13 74,169,535 (GRCm39) missense possibly damaging 0.54
R0013:Tppp UTSW 13 74,169,479 (GRCm39) missense possibly damaging 0.86
R0426:Tppp UTSW 13 74,169,430 (GRCm39) missense probably damaging 1.00
R0579:Tppp UTSW 13 74,169,352 (GRCm39) missense probably benign 0.04
R1894:Tppp UTSW 13 74,169,326 (GRCm39) missense possibly damaging 0.83
R3870:Tppp UTSW 13 74,178,891 (GRCm39) missense probably benign 0.01
R4655:Tppp UTSW 13 74,178,983 (GRCm39) missense probably benign 0.03
R4895:Tppp UTSW 13 74,178,996 (GRCm39) nonsense probably null
R9312:Tppp UTSW 13 74,179,377 (GRCm39) missense probably damaging 1.00
Posted On 2012-11-20