Incidental Mutation 'R7335:Pmaip1'
ID569461
Institutional Source Beutler Lab
Gene Symbol Pmaip1
Ensembl Gene ENSMUSG00000024521
Gene Namephorbol-12-myristate-13-acetate-induced protein 1
SynonymsNoxa
MMRRC Submission
Accession Numbers
Is this an essential gene? Not available question?
Stock #R7335 (G1)
Quality Score225.009
Status Validated
Chromosome18
Chromosomal Location66458604-66465550 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 66458814 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000025399 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025399]
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: 50,602,266 S35G probably benign Het
Adcy6 G T 15: 98,603,876 Q286K probably benign Het
Agrn A G 4: 156,176,532 S676P probably damaging Het
Arntl2 A G 6: 146,809,719 M74V probably benign Het
Arpp21 A T 9: 112,176,251 probably null Het
C1rb A T 6: 124,575,279 I319F possibly damaging Het
C2cd3 T C 7: 100,422,603 V629A Het
Cacna1i T G 15: 80,375,575 F1287C probably damaging Het
Catspere2 A G 1: 178,098,508 I247V probably benign Het
Cd101 C G 3: 101,018,729 A229P probably benign Het
Cdh23 T C 10: 60,305,116 D3151G probably damaging Het
Cenpc1 C A 5: 86,034,353 K557N possibly damaging Het
Col6a4 G A 9: 106,076,892 T416M possibly damaging Het
Cyp2c67 A T 19: 39,640,007 C164* probably null Het
Dopey2 A G 16: 93,747,508 E179G probably benign Het
Duoxa2 A T 2: 122,301,340 Y170F possibly damaging Het
Fras1 A G 5: 96,736,970 K2569R possibly damaging Het
Fsip2 C A 2: 82,983,118 H3260Q probably benign Het
Gm3402 T C 5: 146,515,233 I121T probably benign Het
Herc3 T A 6: 58,876,788 H606Q possibly damaging Het
Hmcn2 T C 2: 31,392,157 V1927A possibly damaging Het
Hnf4g A G 3: 3,652,864 H347R possibly damaging Het
Hs3st3a1 A G 11: 64,520,337 T234A probably benign Het
Hyal1 G T 9: 107,579,160 V379L probably benign Het
Ighv1-19 A G 12: 114,708,951 probably benign Het
Iqcc T A 4: 129,616,708 Q338L not run Het
Kdm5b T C 1: 134,560,439 V34A probably damaging Het
Lgals4 T C 7: 28,841,146 F225L probably benign Het
Lmtk3 C T 7: 45,795,157 T1088I unknown Het
Magel2 A T 7: 62,380,776 S1143C unknown Het
Mapk4 A T 18: 73,937,267 L185Q possibly damaging Het
Ncam1 A G 9: 49,506,911 S1030P Het
Nynrin A T 14: 55,863,914 T347S probably benign Het
Pak7 T C 2: 136,098,299 T532A probably damaging Het
Pcdhb15 A G 18: 37,474,336 E207G probably damaging Het
Pde6h T C 6: 136,963,213 W66R probably damaging Het
Prkd3 A G 17: 78,954,566 F774S probably damaging Het
Prox1 T A 1: 190,161,845 R134S possibly damaging Het
Ptpn22 T A 3: 103,886,019 H495Q probably damaging Het
Ptprj G T 2: 90,440,782 Q1201K probably benign Het
Rp1l1 A G 14: 64,031,998 S1678G probably benign Het
Sez6l G T 5: 112,576,812 probably null Het
Sgcg T A 14: 61,240,367 Y91F probably damaging Het
Skint2 C T 4: 112,624,218 L93F probably damaging Het
Slc22a22 A T 15: 57,263,375 D99E probably benign Het
Slco3a1 A G 7: 74,284,342 I694T probably damaging Het
Smurf2 A T 11: 106,846,085 I305N possibly damaging Het
Soga1 T C 2: 157,031,005 Q862R possibly damaging Het
Stac3 T A 10: 127,504,900 V178D probably benign Het
Suclg2 T A 6: 95,566,460 N330I probably damaging Het
Suclg2 G A 6: 95,566,463 A329V probably damaging Het
Tas2r118 C T 6: 23,969,750 C104Y probably damaging Het
Tom1l2 T G 11: 60,245,165 E327D probably benign Het
Trit1 T C 4: 123,016,779 M57T possibly damaging Het
Vav1 G A 17: 57,296,720 S134N probably benign Het
Vmn2r82 T C 10: 79,378,888 L235P probably damaging Het
Zfp735 T A 11: 73,711,553 V441E possibly damaging Het
Other mutations in Pmaip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02496:Pmaip1 APN 18 66463299 missense probably damaging 0.97
R2093:Pmaip1 UTSW 18 66460981 missense probably damaging 1.00
R5685:Pmaip1 UTSW 18 66460984 missense probably benign 0.27
Predicted Primers PCR Primer
(F):5'- GCCTGAACAGAGAGGATTCC -3'
(R):5'- TCTCGGTAGAAGCCCTGAAG -3'

Sequencing Primer
(F):5'- TGGTGCTGCCTACTGAAGCTC -3'
(R):5'- TCGGTAGAAGCCCTGAAGAACTTTC -3'
Posted On2019-09-13