Incidental Mutation 'R7637:Tppp3'
ID590016
Institutional Source Beutler Lab
Gene Symbol Tppp3
Ensembl Gene ENSMUSG00000014846
Gene Nametubulin polymerization-promoting protein family member 3
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.316) question?
Stock #R7637 (G1)
Quality Score225.009
Status Validated
Chromosome8
Chromosomal Location105467493-105471526 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 105468292 bp
ZygosityHeterozygous
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]
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: 110,218,952 Q651L probably benign Het
Adam8 C T 7: 139,985,430 V624I probably damaging Het
Ccdc144b T A 3: 36,046,876 Q49L probably damaging Het
Cltc T C 11: 86,730,332 H287R probably damaging Het
Cmya5 T C 13: 93,083,212 K3243R possibly damaging Het
Dock5 G A 14: 67,786,340 T1124M possibly damaging Het
Fam8a1 A T 13: 46,671,247 M237L probably benign Het
Fars2 G T 13: 36,204,775 K82N probably benign Het
Gm40460 ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 142,240,713 probably benign Het
Gm5767 C T 16: 8,683,646 P59L unknown Het
Gnat3 A G 5: 18,003,772 D158G Het
Grhl2 A C 15: 37,328,330 N400T probably damaging Het
Grin2c A T 11: 115,256,259 probably null Het
Hipk4 A G 7: 27,523,548 Y11C probably damaging Het
Hspa9 G T 18: 34,938,687 A620E not run Het
Igkv12-89 A G 6: 68,835,099 S29P probably benign Het
Itga8 A T 2: 12,109,187 D1039E probably damaging Het
Itgae A T 11: 73,113,631 D248V probably damaging Het
Kmt2c T C 5: 25,315,095 K2006E probably damaging Het
Mdga1 C T 17: 29,832,379 G934R probably benign Het
Mov10 T C 3: 104,795,885 N896S probably benign Het
Ndufb6 A T 4: 40,273,080 probably null Het
Nlk T C 11: 78,591,005 probably null Het
Notch2 T A 3: 98,146,623 S2201T probably damaging Het
Olfr152 A T 2: 87,783,434 D298V probably damaging Het
Pank1 A C 19: 34,821,988 probably null Het
Pdlim3 T C 8: 45,909,065 F126S probably damaging Het
Pds5a C A 5: 65,638,604 G648C probably benign Het
Plekhh3 T C 11: 101,164,327 I567V unknown Het
Ppfia2 T C 10: 106,865,403 probably null Het
Prl3d1 A G 13: 27,100,069 D207G probably damaging Het
Prss23 T A 7: 89,510,246 D205V probably benign Het
Pygl C T 12: 70,197,795 probably null Het
Qsox2 A G 2: 26,221,020 F111S probably damaging Het
Sart3 T C 5: 113,771,352 N95S probably benign Het
Scpep1 A G 11: 88,929,220 F414S probably damaging Het
Selenbp1 C A 3: 94,937,348 Y105* probably null Het
Sirpa A G 2: 129,616,445 D327G probably benign Het
Sowahc G A 10: 59,222,183 R47H probably damaging Het
Szt2 T C 4: 118,393,828 Y361C probably damaging Het
Taf3 A G 2: 9,940,993 V600A probably benign Het
Tie1 T C 4: 118,472,978 I1042M probably damaging Het
Tmem132e T A 11: 82,434,516 L114Q probably damaging Het
Tmx3 A G 18: 90,537,109 T317A probably damaging Het
Tpr T C 1: 150,423,516 Y1156H probably damaging Het
Trank1 A C 9: 111,365,296 D796A possibly damaging Het
Tsc2 G A 17: 24,607,492 P928S probably benign Het
Unc80 G T 1: 66,672,684 V2722F possibly damaging Het
Vmn1r199 G T 13: 22,382,675 L46F probably benign Het
Vps13a A T 19: 16,750,149 H196Q probably benign Het
Wnt10a T A 1: 74,793,474 C75* probably null Het
Zfp335 A G 2: 164,892,539 probably null Het
Other mutations in Tppp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0097:Tppp3 UTSW 8 105467922 missense probably benign 0.00
R0494:Tppp3 UTSW 8 105468172 missense probably benign 0.02
R0543:Tppp3 UTSW 8 105468208 missense probably benign
R5169:Tppp3 UTSW 8 105467869 missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- ATTTCTGCTGAGATCCACCC -3'
(R):5'- TGCAAGGACTGTAAGGTGGC -3'

Sequencing Primer
(F):5'- GCTGAGATCCACCCCTCCC -3'
(R):5'- ACTGTAAGGTGGCCGACG -3'
Posted On2019-10-24