Incidental Mutation 'R7335:Pmaip1'
ID 569461
Institutional Source Beutler Lab
Gene Symbol Pmaip1
Ensembl Gene ENSMUSG00000024521
Gene Name phorbol-12-myristate-13-acetate-induced protein 1
Synonyms Noxa
MMRRC Submission 045372-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R7335 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 66591675-66598629 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 66591885 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000025399 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025399]
AlphaFold Q9JM54
PDB Structure Solution structure of MCL-1 complexed with NOXAB [SOLUTION NMR]
Crystal structure of the Mcl-1:mNoxaB BH3 complex [X-RAY DIFFRACTION]
Solution Structure of MCL-1 Complexed with NoxaA [SOLUTION NMR]
Predicted Effect probably null
Transcript: ENSMUST00000025399
SMART Domains Protein: ENSMUSP00000025399
Gene: ENSMUSG00000024521

DomainStartEndE-ValueType
Pfam:PMAIP1 1 37 3.6e-13 PFAM
Pfam:PMAIP1 50 103 3.4e-33 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (56/56)
MGI Phenotype PHENOTYPE: Though inactivation of this gene results in apoptotic abnormalities, homozygous null mice develop normally and show no evidence of tumorigenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts2 A G 11: 50,493,093 (GRCm39) S35G probably benign Het
Adcy6 G T 15: 98,501,757 (GRCm39) Q286K probably benign Het
Agrn A G 4: 156,260,989 (GRCm39) S676P probably damaging Het
Arpp21 A T 9: 112,005,319 (GRCm39) probably null Het
Bmal2 A G 6: 146,711,217 (GRCm39) M74V probably benign Het
C1rb A T 6: 124,552,238 (GRCm39) I319F possibly damaging Het
C2cd3 T C 7: 100,071,810 (GRCm39) V629A Het
Cacna1i T G 15: 80,259,776 (GRCm39) F1287C probably damaging Het
Catspere2 A G 1: 177,926,074 (GRCm39) I247V probably benign Het
Cd101 C G 3: 100,926,045 (GRCm39) A229P probably benign Het
Cdh23 T C 10: 60,140,895 (GRCm39) D3151G probably damaging Het
Cenpc1 C A 5: 86,182,212 (GRCm39) K557N possibly damaging Het
Col6a4 G A 9: 105,954,091 (GRCm39) T416M possibly damaging Het
Cyp2c67 A T 19: 39,628,451 (GRCm39) C164* probably null Het
Dop1b A G 16: 93,544,396 (GRCm39) E179G probably benign Het
Duoxa2 A T 2: 122,131,821 (GRCm39) Y170F possibly damaging Het
Fras1 A G 5: 96,884,829 (GRCm39) K2569R possibly damaging Het
Fsip2 C A 2: 82,813,462 (GRCm39) H3260Q probably benign Het
Gm3402 T C 5: 146,452,043 (GRCm39) I121T probably benign Het
Herc3 T A 6: 58,853,773 (GRCm39) H606Q possibly damaging Het
Hmcn2 T C 2: 31,282,169 (GRCm39) V1927A possibly damaging Het
Hnf4g A G 3: 3,717,924 (GRCm39) H347R possibly damaging Het
Hs3st3a1 A G 11: 64,411,163 (GRCm39) T234A probably benign Het
Hyal1 G T 9: 107,456,359 (GRCm39) V379L probably benign Het
Ighv1-19 A G 12: 114,672,571 (GRCm39) probably benign Het
Iqcc T A 4: 129,510,501 (GRCm39) Q338L not run Het
Kdm5b T C 1: 134,488,177 (GRCm39) V34A probably damaging Het
Lgals4 T C 7: 28,540,571 (GRCm39) F225L probably benign Het
Lmtk3 C T 7: 45,444,581 (GRCm39) T1088I unknown Het
Magel2 A T 7: 62,030,524 (GRCm39) S1143C unknown Het
Mapk4 A T 18: 74,070,338 (GRCm39) L185Q possibly damaging Het
Mtcl2 T C 2: 156,872,925 (GRCm39) Q862R possibly damaging Het
Ncam1 A G 9: 49,418,211 (GRCm39) S1030P Het
Nynrin A T 14: 56,101,371 (GRCm39) T347S probably benign Het
Pak5 T C 2: 135,940,219 (GRCm39) T532A probably damaging Het
Pcdhb15 A G 18: 37,607,389 (GRCm39) E207G probably damaging Het
Pde6h T C 6: 136,940,211 (GRCm39) W66R probably damaging Het
Prkd3 A G 17: 79,261,995 (GRCm39) F774S probably damaging Het
Prox1 T A 1: 189,894,042 (GRCm39) R134S possibly damaging Het
Ptpn22 T A 3: 103,793,335 (GRCm39) H495Q probably damaging Het
Ptprj G T 2: 90,271,126 (GRCm39) Q1201K probably benign Het
Rp1l1 A G 14: 64,269,447 (GRCm39) S1678G probably benign Het
Sez6l G T 5: 112,724,678 (GRCm39) probably null Het
Sgcg T A 14: 61,477,816 (GRCm39) Y91F probably damaging Het
Skint2 C T 4: 112,481,415 (GRCm39) L93F probably damaging Het
Slc22a22 A T 15: 57,126,771 (GRCm39) D99E probably benign Het
Slco3a1 A G 7: 73,934,090 (GRCm39) I694T probably damaging Het
Smurf2 A T 11: 106,736,911 (GRCm39) I305N possibly damaging Het
Stac3 T A 10: 127,340,769 (GRCm39) V178D probably benign Het
Suclg2 G A 6: 95,543,444 (GRCm39) A329V probably damaging Het
Suclg2 T A 6: 95,543,441 (GRCm39) N330I probably damaging Het
Tas2r118 C T 6: 23,969,749 (GRCm39) C104Y probably damaging Het
Tom1l2 T G 11: 60,135,991 (GRCm39) E327D probably benign Het
Trit1 T C 4: 122,910,572 (GRCm39) M57T possibly damaging Het
Vav1 G A 17: 57,603,720 (GRCm39) S134N probably benign Het
Vmn2r82 T C 10: 79,214,722 (GRCm39) L235P probably damaging Het
Zfp735 T A 11: 73,602,379 (GRCm39) V441E possibly damaging Het
Other mutations in Pmaip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02496:Pmaip1 APN 18 66,596,370 (GRCm39) missense probably damaging 0.97
R2093:Pmaip1 UTSW 18 66,594,052 (GRCm39) missense probably damaging 1.00
R5685:Pmaip1 UTSW 18 66,594,055 (GRCm39) missense probably benign 0.27
R9218:Pmaip1 UTSW 18 66,596,370 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- GCCTGAACAGAGAGGATTCC -3'
(R):5'- TCTCGGTAGAAGCCCTGAAG -3'

Sequencing Primer
(F):5'- TGGTGCTGCCTACTGAAGCTC -3'
(R):5'- TCGGTAGAAGCCCTGAAGAACTTTC -3'
Posted On 2019-09-13