Incidental Mutation 'R7914:Pttg1'
ID 647969
Institutional Source Beutler Lab
Gene Symbol Pttg1
Ensembl Gene ENSMUSG00000020415
Gene Name pituitary tumor-transforming gene 1
Synonyms PTTG, securin
MMRRC Submission 045962-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7914 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 43311077-43317078 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 43316421 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 26 (L26Q)
Ref Sequence ENSEMBL: ENSMUSP00000020687 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020685] [ENSMUST00000020687] [ENSMUST00000101340] [ENSMUST00000117446] [ENSMUST00000118368] [ENSMUST00000121638] [ENSMUST00000140434] [ENSMUST00000152115]
AlphaFold Q9CQJ7
Predicted Effect probably benign
Transcript: ENSMUST00000020685
AA Change: L26Q

PolyPhen 2 Score 0.356 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000020685
Gene: ENSMUSG00000020415
AA Change: L26Q

DomainStartEndE-ValueType
Pfam:Securin 1 186 1.4e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000020687
AA Change: L26Q

PolyPhen 2 Score 0.409 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000020687
Gene: ENSMUSG00000020415
AA Change: L26Q

DomainStartEndE-ValueType
Pfam:Securin 1 184 1.9e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000101340
AA Change: L26Q

PolyPhen 2 Score 0.409 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000098894
Gene: ENSMUSG00000020415
AA Change: L26Q

DomainStartEndE-ValueType
Pfam:Securin 1 181 3.1e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000117446
AA Change: L26Q

PolyPhen 2 Score 0.356 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000112841
Gene: ENSMUSG00000020415
AA Change: L26Q

DomainStartEndE-ValueType
Pfam:Securin 1 186 1.4e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118368
AA Change: L26Q

PolyPhen 2 Score 0.409 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000112834
Gene: ENSMUSG00000020415
AA Change: L26Q

DomainStartEndE-ValueType
Pfam:Securin 1 181 3.1e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000121638
AA Change: L26Q

PolyPhen 2 Score 0.409 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000112815
Gene: ENSMUSG00000020415
AA Change: L26Q

DomainStartEndE-ValueType
Pfam:Securin 1 181 3.1e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000140434
SMART Domains Protein: ENSMUSP00000122019
Gene: ENSMUSG00000020415

DomainStartEndE-ValueType
Pfam:Securin 1 97 1.6e-24 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000152115
AA Change: L26Q

PolyPhen 2 Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000119554
Gene: ENSMUSG00000020415
AA Change: L26Q

DomainStartEndE-ValueType
Pfam:Securin 1 122 1.7e-25 PFAM
Meta Mutation Damage Score 0.6701 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (39/39)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The encoded protein is a homolog of yeast securin proteins, which prevent separins from promoting sister chromatid separation. It is an anaphase-promoting complex (APC) substrate that associates with a separin until activation of the APC. The gene product has transforming activity in vitro and tumorigenic activity in vivo, and the gene is highly expressed in various tumors. The gene product contains 2 PXXP motifs, which are required for its transforming and tumorigenic activities, as well as for its stimulation of basic fibroblast growth factor expression. It also contains a destruction box (D box) that is required for its degradation by the APC. The acidic C-terminal region of the encoded protein can act as a transactivation domain. The gene product is mainly a cytosolic protein, although it partially localizes in the nucleus. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Sep 2013]
PHENOTYPE: Mice homozygous for a knock-out allele show testicular and splenic hypoplasia, thymic hyperplasia, thrombocytopenia, aberrant cell cycle progression, chromosome instability, premature centromere division, reduced female fertility, reduced pancreatic betacell mass and sexually-dimorphic diabetes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik G T 10: 100,428,538 (GRCm39) V12F probably benign Het
Adnp2 T A 18: 80,174,056 (GRCm39) R118W probably damaging Het
Apaf1 G A 10: 90,896,095 (GRCm39) R337C probably damaging Het
Arhgef40 T C 14: 52,225,032 (GRCm39) L59P probably damaging Het
B020011L13Rik A G 1: 117,729,162 (GRCm39) E223G probably benign Het
Bcl6 T C 16: 23,788,761 (GRCm39) R536G possibly damaging Het
Bltp1 A T 3: 37,000,432 (GRCm39) N1204Y probably benign Het
Catsperg1 T C 7: 28,894,851 (GRCm39) E582G probably benign Het
Ccdc136 A G 6: 29,419,306 (GRCm39) N942S probably damaging Het
Ccdc81 A C 7: 89,524,988 (GRCm39) M531R possibly damaging Het
Cep78 T C 19: 15,953,672 (GRCm39) E283G probably benign Het
Cnot1 ACG A 8: 96,472,275 (GRCm39) probably null Het
E230025N22Rik C A 18: 36,828,605 (GRCm39) R24S possibly damaging Het
Epb41l1 T A 2: 156,364,128 (GRCm39) M879K probably benign Het
Fam135a T C 1: 24,065,760 (GRCm39) Y1226C probably damaging Het
Fbxo11 T C 17: 88,320,031 (GRCm39) E151G Het
Herc6 A G 6: 57,584,106 (GRCm39) T322A probably benign Het
Inka1 T C 9: 107,862,761 (GRCm39) probably benign Het
Kalrn T A 16: 33,849,122 (GRCm39) Q2110L probably benign Het
Kti12 A C 4: 108,705,443 (GRCm39) E119A probably benign Het
Kti12 G T 4: 108,705,444 (GRCm39) E119D probably benign Het
Lrrc19 T A 4: 94,526,537 (GRCm39) H340L probably damaging Het
Mkks A T 2: 136,722,876 (GRCm39) F94I probably damaging Het
Pcdhga3 T A 18: 37,808,013 (GRCm39) F155L probably benign Het
Pdlim1 T A 19: 40,240,445 (GRCm39) I53F probably damaging Het
Rasa4 T A 5: 136,130,510 (GRCm39) probably benign Het
Rsbn1l A G 5: 21,110,896 (GRCm39) S481P probably damaging Het
Sae1 C A 7: 16,121,648 (GRCm39) G10C unknown Het
Samd15 T C 12: 87,248,559 (GRCm39) S415P probably damaging Het
Scn7a T A 2: 66,530,294 (GRCm39) I684F probably damaging Het
Sec23b T A 2: 144,406,565 (GRCm39) M120K probably benign Het
Slc20a1 G A 2: 129,049,757 (GRCm39) D340N probably benign Het
Slf2 T A 19: 44,947,499 (GRCm39) M821K possibly damaging Het
Suv39h2 G A 2: 3,465,453 (GRCm39) R301* probably null Het
Tgfbi A G 13: 56,777,502 (GRCm39) T329A probably damaging Het
Tmprss12 T C 15: 100,183,111 (GRCm39) F151S probably damaging Het
Ttn T C 2: 76,747,525 (GRCm39) D4508G probably benign Het
Tyk2 C A 9: 21,032,851 (GRCm39) C304F probably benign Het
Vmn1r121 T A 7: 20,831,589 (GRCm39) T284S probably benign Het
Vmn2r117 A G 17: 23,679,100 (GRCm39) I708T possibly damaging Het
Vmn2r2 A T 3: 64,041,526 (GRCm39) D396E probably benign Het
Zfc3h1 A G 10: 115,239,062 (GRCm39) probably null Het
Zic4 T G 9: 91,266,181 (GRCm39) V275G probably damaging Het
Other mutations in Pttg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1826:Pttg1 UTSW 11 43,311,193 (GRCm39) missense probably damaging 0.98
R2433:Pttg1 UTSW 11 43,311,178 (GRCm39) missense probably damaging 0.98
R4448:Pttg1 UTSW 11 43,315,517 (GRCm39) intron probably benign
R4663:Pttg1 UTSW 11 43,315,677 (GRCm39) nonsense probably null
R6483:Pttg1 UTSW 11 43,315,671 (GRCm39) missense probably damaging 0.98
R7104:Pttg1 UTSW 11 43,311,976 (GRCm39) missense probably benign 0.12
R7289:Pttg1 UTSW 11 43,311,916 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GATTTAAGCAGAGCGCCTGGAC -3'
(R):5'- CCTGGGTAAAGCTTGGTCTCTG -3'

Sequencing Primer
(F):5'- CTGGACACGTGACTTAGTAGC -3'
(R):5'- AAAGCTTGGTCTCTGTTACTGC -3'
Posted On 2020-09-15