Incidental Mutation 'R4448:Pttg1'
ID 328847
Institutional Source Beutler Lab
Gene Symbol Pttg1
Ensembl Gene ENSMUSG00000020415
Gene Name pituitary tumor-transforming gene 1
Synonyms PTTG, securin
MMRRC Submission 041709-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4448 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 43311077-43317078 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to T at 43315517 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000119554 (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
SMART Domains Protein: ENSMUSP00000020685
Gene: ENSMUSG00000020415

DomainStartEndE-ValueType
Pfam:Securin 1 186 1.4e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000020687
SMART Domains Protein: ENSMUSP00000020687
Gene: ENSMUSG00000020415

DomainStartEndE-ValueType
Pfam:Securin 1 184 1.9e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000101340
SMART Domains Protein: ENSMUSP00000098894
Gene: ENSMUSG00000020415

DomainStartEndE-ValueType
Pfam:Securin 1 181 3.1e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000117446
SMART Domains Protein: ENSMUSP00000112841
Gene: ENSMUSG00000020415

DomainStartEndE-ValueType
Pfam:Securin 1 186 1.4e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118368
SMART Domains Protein: ENSMUSP00000112834
Gene: ENSMUSG00000020415

DomainStartEndE-ValueType
Pfam:Securin 1 181 3.1e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000121638
SMART Domains Protein: ENSMUSP00000112815
Gene: ENSMUSG00000020415

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 noncoding transcript
Transcript: ENSMUST00000148130
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150726
Predicted Effect probably benign
Transcript: ENSMUST00000152115
SMART Domains Protein: ENSMUSP00000119554
Gene: ENSMUSG00000020415

DomainStartEndE-ValueType
Pfam:Securin 1 122 1.7e-25 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 94% (49/52)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3930402G23Rik T A 8: 10,976,129 (GRCm39) noncoding transcript Het
A1cf A T 19: 31,923,262 (GRCm39) T513S probably benign Het
Acaca A T 11: 84,153,318 (GRCm39) I909F probably damaging Het
Adgb T C 10: 10,266,569 (GRCm39) I980V probably benign Het
Akap13 T A 7: 75,392,508 (GRCm39) F2450L probably damaging Het
Alg11 C A 8: 22,558,095 (GRCm39) A469E probably benign Het
Asb8 A G 15: 98,039,211 (GRCm39) V63A possibly damaging Het
Atp6v1b2 T A 8: 69,554,674 (GRCm39) D126E probably benign Het
BC048562 T A 9: 108,315,723 (GRCm39) L43Q probably damaging Het
Ctcf A T 8: 106,406,925 (GRCm39) probably benign Het
Efs A G 14: 55,157,649 (GRCm39) S128P probably damaging Het
Epg5 T A 18: 78,005,676 (GRCm39) M722K probably damaging Het
Ezr T C 17: 7,020,473 (GRCm39) I203V probably benign Het
F5 A T 1: 164,026,468 (GRCm39) N1680I possibly damaging Het
Fcna A G 2: 25,515,488 (GRCm39) F194L probably damaging Het
Fut7 A G 2: 25,314,951 (GRCm39) T70A probably benign Het
Galnt2 A G 8: 125,022,116 (GRCm39) D14G probably benign Het
Gpr4 G A 7: 18,956,926 (GRCm39) A283T probably damaging Het
Herc2 T C 7: 55,877,640 (GRCm39) L4569P probably damaging Het
Hhip C T 8: 80,770,574 (GRCm39) probably null Het
Hoxc12 A G 15: 102,846,911 (GRCm39) K268E probably damaging Het
Iqcm T C 8: 76,356,394 (GRCm39) S176P probably damaging Het
Kansl1l A G 1: 66,777,318 (GRCm39) S605P probably damaging Het
Kcnh4 A G 11: 100,646,733 (GRCm39) F198L probably benign Het
Kmt2e T C 5: 23,669,788 (GRCm39) F92L possibly damaging Het
Lmo2 T C 2: 103,811,407 (GRCm39) Y147H probably damaging Het
Mycbp2 T C 14: 103,425,938 (GRCm39) I2396V possibly damaging Het
Nckap5 G A 1: 125,953,463 (GRCm39) Q1030* probably null Het
Pag1 T C 3: 9,764,526 (GRCm39) E209G probably benign Het
Pramel30 A C 4: 144,059,255 (GRCm39) H322P probably damaging Het
Rab38 T G 7: 88,139,833 (GRCm39) D167E probably benign Het
Rbm26 A T 14: 105,388,986 (GRCm39) F302I probably damaging Het
Rpap2 G A 5: 107,749,661 (GRCm39) V62I possibly damaging Het
Sec23b A G 2: 144,401,171 (GRCm39) N11D probably benign Het
Sipa1l1 G A 12: 82,388,524 (GRCm39) G250D probably benign Het
Sipa1l2 A T 8: 126,219,094 (GRCm39) V81D probably damaging Het
Slc15a4 A G 5: 127,681,600 (GRCm39) probably null Het
Sqstm1 A G 11: 50,093,866 (GRCm39) probably benign Het
Taf4 A G 2: 179,577,764 (GRCm39) L519P possibly damaging Het
Tdrd6 C T 17: 43,940,626 (GRCm39) G141S probably benign Het
Urb1 C T 16: 90,566,282 (GRCm39) V1502I possibly damaging Het
Vmn1r222 A C 13: 23,416,463 (GRCm39) V250G probably benign Het
Vmn1r222 G A 13: 23,416,830 (GRCm39) L128F probably damaging Het
Wwc2 A G 8: 48,321,702 (GRCm39) Y471H unknown 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
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
R7914:Pttg1 UTSW 11 43,316,421 (GRCm39) missense probably benign 0.41
Predicted Primers PCR Primer
(F):5'- TAAGCATCAGAAGTGCTGCAG -3'
(R):5'- TGGGAAATTGCAGGTTTCAAC -3'

Sequencing Primer
(F):5'- AAGTGCTGCAGTGGGGC -3'
(R):5'- GAAATTGCAGGTTTCAACGCCTC -3'
Posted On 2015-07-21