Incidental Mutation 'R0543:Tppp3'
ID 50061
Institutional Source Beutler Lab
Gene Symbol Tppp3
Ensembl Gene ENSMUSG00000014846
Gene Name tubulin polymerization-promoting protein family member 3
Synonyms 2700055K07Rik
MMRRC Submission 038735-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.390) question?
Stock # R0543 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 106194125-106198158 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 106194840 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 97 (D97G)
Ref Sequence ENSEMBL: ENSMUSP00000135040 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014990] [ENSMUST00000044286] [ENSMUST00000067305] [ENSMUST00000109355] [ENSMUST00000176419] [ENSMUST00000177126] [ENSMUST00000212303] [ENSMUST00000213547] [ENSMUST00000216765]
AlphaFold Q9CRB6
Predicted Effect probably benign
Transcript: ENSMUST00000014990
AA Change: D97G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000014990
Gene: ENSMUSG00000014846
AA Change: D97G

DomainStartEndE-ValueType
Pfam:p25-alpha 11 172 1.2e-71 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000044286
SMART Domains Protein: ENSMUSP00000036471
Gene: ENSMUSG00000039199

DomainStartEndE-ValueType
transmembrane domain 49 71 N/A INTRINSIC
transmembrane domain 78 100 N/A INTRINSIC
Pfam:zf-DHHC 126 282 2.5e-38 PFAM
low complexity region 359 371 N/A INTRINSIC
low complexity region 383 392 N/A INTRINSIC
low complexity region 395 411 N/A INTRINSIC
low complexity region 414 426 N/A INTRINSIC
low complexity region 468 482 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000067305
SMART Domains Protein: ENSMUSP00000066345
Gene: ENSMUSG00000054320

DomainStartEndE-ValueType
low complexity region 377 389 N/A INTRINSIC
coiled coil region 478 550 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000109355
SMART Domains Protein: ENSMUSP00000104979
Gene: ENSMUSG00000054320

DomainStartEndE-ValueType
Pfam:LRR_8 24 84 2.9e-8 PFAM
low complexity region 500 512 N/A INTRINSIC
coiled coil region 601 673 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000176419
AA Change: D97G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000134807
Gene: ENSMUSG00000014846
AA Change: D97G

DomainStartEndE-ValueType
Pfam:p25-alpha 10 174 9e-62 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177126
AA Change: D97G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000135040
Gene: ENSMUSG00000014846
AA Change: D97G

DomainStartEndE-ValueType
Pfam:p25-alpha 10 174 9e-62 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212109
Predicted Effect probably benign
Transcript: ENSMUST00000212303
Predicted Effect probably benign
Transcript: ENSMUST00000213547
Predicted Effect probably benign
Transcript: ENSMUST00000216765
Predicted Effect probably benign
Transcript: ENSMUST00000216457
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.3%
Validation Efficiency 99% (69/70)
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alox5 T A 6: 116,431,278 (GRCm39) probably null Het
Apol9b A G 15: 77,619,840 (GRCm39) N212S probably damaging Het
Ash1l T A 3: 88,971,085 (GRCm39) probably null Het
Bltp1 G A 3: 37,050,607 (GRCm39) S2981N probably benign Het
Ccdc180 A T 4: 45,900,041 (GRCm39) K200* probably null Het
Ccser2 A T 14: 36,662,149 (GRCm39) M345K probably benign Het
Cdcp2 A T 4: 106,954,873 (GRCm39) probably null Het
Clca3a1 T C 3: 144,454,155 (GRCm39) probably benign Het
Cntn3 G A 6: 102,246,051 (GRCm39) probably benign Het
Col28a1 T A 6: 8,075,326 (GRCm39) probably benign Het
Dock2 A G 11: 34,244,325 (GRCm39) F1035S probably damaging Het
Dsg1a A T 18: 20,473,920 (GRCm39) S998C probably damaging Het
Ecrg4 C A 1: 43,781,449 (GRCm39) N110K possibly damaging Het
Enox1 T C 14: 77,744,399 (GRCm39) probably benign Het
Fgfr3 A G 5: 33,887,054 (GRCm39) M1V probably null Het
Fuca2 T A 10: 13,378,870 (GRCm39) Y5N probably damaging Het
Git2 G T 5: 114,883,592 (GRCm39) H42Q probably damaging Het
Gm7964 G A 7: 83,405,602 (GRCm39) noncoding transcript Het
Hars2 G A 18: 36,922,477 (GRCm39) E337K probably damaging Het
Hells A G 19: 38,956,194 (GRCm39) R797G probably benign Het
Hnf1a G A 5: 115,088,803 (GRCm39) S571L probably benign Het
Hoxa5 T C 6: 52,181,320 (GRCm39) Y4C probably damaging Het
Inpp4a G A 1: 37,408,573 (GRCm39) probably benign Het
Ints6 T C 14: 62,934,060 (GRCm39) I816V probably damaging Het
Itpr1 T C 6: 108,492,709 (GRCm39) probably benign Het
Itprid2 T A 2: 79,474,850 (GRCm39) S270T possibly damaging Het
Kcnt2 C A 1: 140,537,352 (GRCm39) P1037T probably damaging Het
Lyg2 T A 1: 37,950,188 (GRCm39) M47L possibly damaging Het
Macf1 G T 4: 123,270,171 (GRCm39) A4648D probably damaging Het
Mcf2l T C 8: 13,046,728 (GRCm39) probably null Het
Mcm9 C T 10: 53,417,694 (GRCm39) R3H probably damaging Het
Met T A 6: 17,491,969 (GRCm39) Y244N probably damaging Het
Mettl14 A T 3: 123,168,411 (GRCm39) C210S possibly damaging Het
Mrgpra4 T C 7: 47,631,058 (GRCm39) Y181C probably benign Het
Mtch2 T C 2: 90,680,026 (GRCm39) V86A possibly damaging Het
Mttp A T 3: 137,817,457 (GRCm39) I446N possibly damaging Het
Muc4 T A 16: 32,577,120 (GRCm39) S2207T unknown Het
Muc5b A G 7: 141,405,522 (GRCm39) T944A unknown Het
Myo15a A T 11: 60,369,877 (GRCm39) H879L probably benign Het
Nherf4 A C 9: 44,160,231 (GRCm39) H324Q probably damaging Het
Nkiras2 G A 11: 100,515,018 (GRCm39) probably benign Het
Nostrin T G 2: 69,019,475 (GRCm39) *507E probably null Het
Nup205 T C 6: 35,175,904 (GRCm39) V589A probably benign Het
Or12j3 A G 7: 139,953,307 (GRCm39) I72T probably benign Het
Or5b21 G T 19: 12,839,252 (GRCm39) V38F probably benign Het
Or5w17 C A 2: 87,583,994 (GRCm39) L114F probably damaging Het
Oxct2b T A 4: 123,010,782 (GRCm39) M234K possibly damaging Het
Pcdha1 A T 18: 37,318,121 (GRCm39) I945F probably damaging Het
Pik3ca G A 3: 32,504,410 (GRCm39) probably null Het
Pkhd1l1 A G 15: 44,386,887 (GRCm39) probably null Het
Plscr1 A T 9: 92,140,099 (GRCm39) probably null Het
Prkn G A 17: 11,286,066 (GRCm39) D20N probably damaging Het
Psd T C 19: 46,307,956 (GRCm39) E684G possibly damaging Het
Rab11fip3 T C 17: 26,213,199 (GRCm39) E870G probably damaging Het
Rpl22l1 C A 3: 28,861,423 (GRCm39) Y103* probably null Het
Semp2l2b T C 10: 21,942,823 (GRCm39) S386G possibly damaging Het
Slc38a4 A T 15: 96,914,720 (GRCm39) N44K possibly damaging Het
Slco6c1 T A 1: 97,055,623 (GRCm39) I93F probably damaging Het
Strip1 G A 3: 107,534,091 (GRCm39) T181M possibly damaging Het
Stxbp5l G A 16: 37,028,458 (GRCm39) A535V probably damaging Het
Tg A T 15: 66,601,446 (GRCm39) Q152L probably benign Het
Thada T C 17: 84,730,591 (GRCm39) T1036A probably damaging Het
Tnfrsf21 C T 17: 43,349,104 (GRCm39) H239Y probably benign Het
Tns1 T A 1: 73,991,856 (GRCm39) T941S probably benign Het
Trp53bp1 C A 2: 121,082,349 (GRCm39) A317S probably null Het
Trpm7 T C 2: 126,690,449 (GRCm39) I210V probably damaging Het
Ubr1 A G 2: 120,711,574 (GRCm39) L1440P probably damaging Het
Utp18 A T 11: 93,766,661 (GRCm39) Y317N probably damaging Het
Zdhhc5 T A 2: 84,522,824 (GRCm39) probably benign Het
Zfp719 A G 7: 43,238,677 (GRCm39) probably null Het
Other mutations in Tppp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0097:Tppp3 UTSW 8 106,194,554 (GRCm39) missense probably benign 0.00
R0494:Tppp3 UTSW 8 106,194,804 (GRCm39) missense probably benign 0.02
R5169:Tppp3 UTSW 8 106,194,501 (GRCm39) missense probably benign 0.06
R7637:Tppp3 UTSW 8 106,194,924 (GRCm39) missense probably benign 0.02
R8910:Tppp3 UTSW 8 106,194,924 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- TCCACAGCACCACCCGTTTTAG -3'
(R):5'- AGTCAAGTGAGCACCAGGCAAC -3'

Sequencing Primer
(F):5'- GTTTGGATAGAGTTCCCACAGAGTC -3'
(R):5'- CTCATGCTTTCAGAAAGTGGGG -3'
Posted On 2013-06-12