Incidental Mutation 'R7637:Tppp3'
ID 590016
Institutional Source Beutler Lab
Gene Symbol Tppp3
Ensembl Gene ENSMUSG00000014846
Gene Name tubulin polymerization-promoting protein family member 3
Synonyms 2700055K07Rik
MMRRC Submission 045695-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.509) question?
Stock # R7637 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 106194125-106198158 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 106194924 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 69 (V69A)
Ref Sequence ENSEMBL: ENSMUSP00000014990 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014990] [ENSMUST00000044286] [ENSMUST00000067305] [ENSMUST00000109355] [ENSMUST00000176419] [ENSMUST00000177126] [ENSMUST00000212303] [ENSMUST00000213547] [ENSMUST00000216765]
AlphaFold Q9CRB6
PDB Structure Solution structure of mouse CGI-38 protein [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000014990
AA Change: V69A

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000014990
Gene: ENSMUSG00000014846
AA Change: V69A

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: V69A

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000134807
Gene: ENSMUSG00000014846
AA Change: V69A

DomainStartEndE-ValueType
Pfam:p25-alpha 10 174 9e-62 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177126
AA Change: V69A

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000135040
Gene: ENSMUSG00000014846
AA Change: V69A

DomainStartEndE-ValueType
Pfam:p25-alpha 10 174 9e-62 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000212303
Predicted Effect probably benign
Transcript: ENSMUST00000213547
Predicted Effect probably benign
Transcript: ENSMUST00000216457
Predicted Effect probably benign
Transcript: ENSMUST00000216765
Meta Mutation Damage Score 0.0891 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (51/51)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T A 11: 110,109,778 (GRCm39) Q651L probably benign Het
Adam8 C T 7: 139,565,343 (GRCm39) V624I probably damaging Het
Cltc T C 11: 86,621,158 (GRCm39) H287R probably damaging Het
Cmya5 T C 13: 93,219,720 (GRCm39) K3243R possibly damaging Het
Dock5 G A 14: 68,023,789 (GRCm39) T1124M possibly damaging Het
Fam8a1 A T 13: 46,824,723 (GRCm39) M237L probably benign Het
Fars2 G T 13: 36,388,758 (GRCm39) K82N probably benign Het
Gm40460 ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,450 (GRCm39) probably benign Het
Gm57858 T A 3: 36,101,025 (GRCm39) Q49L probably damaging Het
Gnat3 A G 5: 18,208,770 (GRCm39) D158G Het
Grhl2 A C 15: 37,328,574 (GRCm39) N400T probably damaging Het
Grin2c A T 11: 115,147,085 (GRCm39) probably null Het
Hipk4 A G 7: 27,222,973 (GRCm39) Y11C probably damaging Het
Hspa9 G T 18: 35,071,740 (GRCm39) A620E not run Het
Igkv12-89 A G 6: 68,812,083 (GRCm39) S29P probably benign Het
Itga8 A T 2: 12,113,998 (GRCm39) D1039E probably damaging Het
Itgae A T 11: 73,004,457 (GRCm39) D248V probably damaging Het
Kmt2c T C 5: 25,520,093 (GRCm39) K2006E probably damaging Het
Litafd C T 16: 8,501,510 (GRCm39) P59L unknown Het
Mdga1 C T 17: 30,051,353 (GRCm39) G934R probably benign Het
Mov10 T C 3: 104,703,201 (GRCm39) N896S probably benign Het
Ndufb6 A T 4: 40,273,080 (GRCm39) probably null Het
Nlk T C 11: 78,481,831 (GRCm39) probably null Het
Notch2 T A 3: 98,053,939 (GRCm39) S2201T probably damaging Het
Or5i1 A T 2: 87,613,778 (GRCm39) D298V probably damaging Het
Pank1 A C 19: 34,799,388 (GRCm39) probably null Het
Pdlim3 T C 8: 46,362,102 (GRCm39) F126S probably damaging Het
Pds5a C A 5: 65,795,947 (GRCm39) G648C probably benign Het
Plekhh3 T C 11: 101,055,153 (GRCm39) I567V unknown Het
Ppfia2 T C 10: 106,701,264 (GRCm39) probably null Het
Prl3d1 A G 13: 27,284,052 (GRCm39) D207G probably damaging Het
Prss23 T A 7: 89,159,454 (GRCm39) D205V probably benign Het
Pygl C T 12: 70,244,569 (GRCm39) probably null Het
Qsox2 A G 2: 26,111,032 (GRCm39) F111S probably damaging Het
Sart3 T C 5: 113,909,413 (GRCm39) N95S probably benign Het
Scpep1 A G 11: 88,820,046 (GRCm39) F414S probably damaging Het
Selenbp1 C A 3: 94,844,659 (GRCm39) Y105* probably null Het
Sirpa A G 2: 129,458,365 (GRCm39) D327G probably benign Het
Sowahc G A 10: 59,058,005 (GRCm39) R47H probably damaging Het
Szt2 T C 4: 118,251,025 (GRCm39) Y361C probably damaging Het
Taf3 A G 2: 9,945,804 (GRCm39) V600A probably benign Het
Tie1 T C 4: 118,330,175 (GRCm39) I1042M probably damaging Het
Tmem132e T A 11: 82,325,342 (GRCm39) L114Q probably damaging Het
Tmx3 A G 18: 90,555,233 (GRCm39) T317A probably damaging Het
Tpr T C 1: 150,299,267 (GRCm39) Y1156H probably damaging Het
Trank1 A C 9: 111,194,364 (GRCm39) D796A possibly damaging Het
Tsc2 G A 17: 24,826,466 (GRCm39) P928S probably benign Het
Unc80 G T 1: 66,711,843 (GRCm39) V2722F possibly damaging Het
Vmn1r199 G T 13: 22,566,845 (GRCm39) L46F probably benign Het
Vps13a A T 19: 16,727,513 (GRCm39) H196Q probably benign Het
Wnt10a T A 1: 74,832,633 (GRCm39) C75* probably null Het
Zfp335 A G 2: 164,734,459 (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
R0543:Tppp3 UTSW 8 106,194,840 (GRCm39) missense probably benign
R5169:Tppp3 UTSW 8 106,194,501 (GRCm39) missense probably benign 0.06
R8910:Tppp3 UTSW 8 106,194,924 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- ATTTCTGCTGAGATCCACCC -3'
(R):5'- TGCAAGGACTGTAAGGTGGC -3'

Sequencing Primer
(F):5'- GCTGAGATCCACCCCTCCC -3'
(R):5'- ACTGTAAGGTGGCCGACG -3'
Posted On 2019-10-24