Incidental Mutation 'R1541:Plag1'
ID 171714
Institutional Source Beutler Lab
Gene Symbol Plag1
Ensembl Gene ENSMUSG00000003282
Gene Name pleiomorphic adenoma gene 1
Synonyms
MMRRC Submission 039580-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.876) question?
Stock # R1541 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 3900996-3938423 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 3904085 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 369 (S369P)
Ref Sequence ENSEMBL: ENSMUSP00000003369 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003369] [ENSMUST00000137439] [ENSMUST00000151543]
AlphaFold Q9QYE0
Predicted Effect probably benign
Transcript: ENSMUST00000003369
AA Change: S369P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000003369
Gene: ENSMUSG00000003282
AA Change: S369P

DomainStartEndE-ValueType
ZnF_C2H2 34 56 2.2e-2 SMART
ZnF_C2H2 62 86 1.6e-4 SMART
ZnF_C2H2 92 114 1.89e-1 SMART
ZnF_C2H2 121 143 5.99e-4 SMART
ZnF_C2H2 150 172 2.86e-1 SMART
ZnF_C2H2 185 207 1.03e-2 SMART
ZnF_C2H2 213 236 8.94e-3 SMART
low complexity region 364 379 N/A INTRINSIC
low complexity region 396 411 N/A INTRINSIC
low complexity region 471 491 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000137439
Predicted Effect probably benign
Transcript: ENSMUST00000151543
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Pleomorphic adenoma gene 1 encodes a zinc finger protein with 2 putative nuclear localization signals. PLAG1, which is developmentally regulated, has been shown to be consistently rearranged in pleomorphic adenomas of the salivary glands. PLAG1 is activated by the reciprocal chromosomal translocations involving 8q12 in a subset of salivary gland pleomorphic adenomas. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display reduced male fertility, small seminal vesicles and ventral prostate, reduced litter size (females only), reduced embryonic and postnatal growth, and delayed eyelid opening. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acod1 A G 14: 103,286,769 (GRCm39) D24G probably damaging Het
Angptl2 G A 2: 33,136,177 (GRCm39) R454H probably benign Het
Atat1 T A 17: 36,215,223 (GRCm39) N181I probably damaging Het
Atp6v0d2 A C 4: 19,910,645 (GRCm39) F82V probably damaging Het
Calhm4 T C 10: 33,917,659 (GRCm39) H264R probably benign Het
Casp3 A G 8: 47,087,369 (GRCm39) I105M probably benign Het
Ccdc33 T A 9: 58,024,749 (GRCm39) D159V probably damaging Het
Cd163 A C 6: 124,304,920 (GRCm39) D1099A probably benign Het
Cep128 A T 12: 91,315,555 (GRCm39) S110R probably damaging Het
Cfap43 A T 19: 47,752,291 (GRCm39) probably null Het
Cfap58 T C 19: 47,971,969 (GRCm39) I633T probably damaging Het
Clvs1 A G 4: 9,281,814 (GRCm39) H86R probably benign Het
Comt T C 16: 18,230,565 (GRCm39) K48R probably benign Het
Crip2 T C 12: 113,108,586 (GRCm39) V64A possibly damaging Het
Cstdc5 T A 16: 36,187,863 (GRCm39) M1L probably damaging Het
Cwf19l2 T A 9: 3,456,760 (GRCm39) S698T probably damaging Het
Dis3l T C 9: 64,214,771 (GRCm39) I933V probably benign Het
Dnah8 C A 17: 30,966,221 (GRCm39) N2470K probably damaging Het
Dstn T C 2: 143,780,408 (GRCm39) V36A possibly damaging Het
Dtx1 T A 5: 120,848,411 (GRCm39) probably benign Het
Dzip1 G A 14: 119,116,890 (GRCm39) S782L probably damaging Het
Ece1 T A 4: 137,675,971 (GRCm39) probably null Het
Erich1 A G 8: 14,080,688 (GRCm39) I277T probably damaging Het
Gbp4 T A 5: 105,266,275 (GRCm39) M589L probably benign Het
Grip1 T C 10: 119,836,448 (GRCm39) I440T probably damaging Het
Helz C T 11: 107,560,874 (GRCm39) S1311L probably benign Het
Herc2 A T 7: 55,785,405 (GRCm39) I1552F probably damaging Het
Kif13a T C 13: 46,962,689 (GRCm39) T459A probably benign Het
Knop1 G A 7: 118,455,009 (GRCm39) probably benign Het
Llgl2 C A 11: 115,743,947 (GRCm39) T758K probably benign Het
Lonrf2 G A 1: 38,852,357 (GRCm39) P165S probably benign Het
Lrrc71 T C 3: 87,649,148 (GRCm39) D340G possibly damaging Het
Luzp1 A G 4: 136,270,636 (GRCm39) D953G probably damaging Het
Mst1r T C 9: 107,794,562 (GRCm39) V1247A probably damaging Het
Ncoa4 A T 14: 31,898,845 (GRCm39) K555M probably damaging Het
Ncoa6 A T 2: 155,257,224 (GRCm39) L773Q probably benign Het
Ndc1 C T 4: 107,228,485 (GRCm39) Q70* probably null Het
Nfe2l3 C T 6: 51,434,585 (GRCm39) L382F probably damaging Het
Nlrp4b C A 7: 10,458,979 (GRCm39) T399N possibly damaging Het
Nsmce2 T A 15: 59,473,234 (GRCm39) D250E probably damaging Het
Nudt14 A T 12: 112,898,548 (GRCm39) L184Q probably damaging Het
Ogdhl G A 14: 32,062,624 (GRCm39) R570H possibly damaging Het
Or5p56 T C 7: 107,590,048 (GRCm39) F159L probably benign Het
Pira13 T C 7: 3,819,988 (GRCm39) D525G probably damaging Het
Ranbp2 A T 10: 58,318,916 (GRCm39) T2476S possibly damaging Het
Rnmt T C 18: 68,440,853 (GRCm39) L172P probably damaging Het
Sec24a T A 11: 51,634,623 (GRCm39) H101L probably benign Het
Sirpd T A 3: 15,385,744 (GRCm39) T53S possibly damaging Het
Srm A G 4: 148,677,881 (GRCm39) D173G probably damaging Het
Srp54b A G 12: 55,302,844 (GRCm39) D380G probably benign Het
Svs5 C T 2: 164,078,929 (GRCm39) R326Q possibly damaging Het
Tent4b T C 8: 88,972,227 (GRCm39) V222A probably damaging Het
Tfap2b C T 1: 19,304,294 (GRCm39) T350M probably damaging Het
Tie1 A T 4: 118,341,070 (GRCm39) C304S probably damaging Het
Tsc2 G T 17: 24,850,950 (GRCm39) T36N probably damaging Het
Wdhd1 A T 14: 47,505,649 (GRCm39) Y274* probably null Het
Wdr37 T C 13: 8,870,574 (GRCm39) T373A probably benign Het
Xirp2 A T 2: 67,342,634 (GRCm39) N1625I possibly damaging Het
Ythdf1 A C 2: 180,560,936 (GRCm39) S35A probably damaging Het
Zfp462 A G 4: 55,008,928 (GRCm39) N298S possibly damaging Het
Zfp541 T A 7: 15,812,437 (GRCm39) D363E probably benign Het
Zgpat A G 2: 181,020,658 (GRCm39) D277G probably benign Het
Znfx1 A T 2: 166,898,110 (GRCm39) N271K probably damaging Het
Other mutations in Plag1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00775:Plag1 APN 4 3,904,055 (GRCm39) missense probably damaging 0.99
IGL01775:Plag1 APN 4 3,904,513 (GRCm39) missense probably damaging 1.00
IGL02738:Plag1 APN 4 3,903,812 (GRCm39) nonsense probably null
extracted UTSW 4 3,904,676 (GRCm39) missense probably damaging 1.00
Rehab UTSW 4 3,904,546 (GRCm39) missense probably damaging 1.00
scrawny UTSW 4 3,905,463 (GRCm39) nonsense probably null
PIT4378001:Plag1 UTSW 4 3,905,492 (GRCm39) missense probably benign 0.16
R0217:Plag1 UTSW 4 3,904,379 (GRCm39) missense probably benign 0.05
R0359:Plag1 UTSW 4 3,904,546 (GRCm39) missense probably damaging 1.00
R0554:Plag1 UTSW 4 3,904,546 (GRCm39) missense probably damaging 1.00
R0892:Plag1 UTSW 4 3,904,532 (GRCm39) nonsense probably null
R1964:Plag1 UTSW 4 3,903,956 (GRCm39) missense probably benign
R2011:Plag1 UTSW 4 3,904,889 (GRCm39) missense probably damaging 1.00
R2012:Plag1 UTSW 4 3,904,870 (GRCm39) missense probably damaging 1.00
R2126:Plag1 UTSW 4 3,904,169 (GRCm39) missense possibly damaging 0.50
R3982:Plag1 UTSW 4 3,904,055 (GRCm39) missense probably damaging 0.97
R4285:Plag1 UTSW 4 3,905,654 (GRCm39) missense probably benign 0.13
R5244:Plag1 UTSW 4 3,903,887 (GRCm39) missense probably benign 0.02
R5289:Plag1 UTSW 4 3,905,545 (GRCm39) missense probably damaging 1.00
R5386:Plag1 UTSW 4 3,904,075 (GRCm39) missense probably benign
R5428:Plag1 UTSW 4 3,905,538 (GRCm39) missense possibly damaging 0.94
R5608:Plag1 UTSW 4 3,905,463 (GRCm39) nonsense probably null
R5755:Plag1 UTSW 4 3,904,492 (GRCm39) missense possibly damaging 0.94
R6036:Plag1 UTSW 4 3,904,618 (GRCm39) missense possibly damaging 0.94
R6036:Plag1 UTSW 4 3,904,618 (GRCm39) missense possibly damaging 0.94
R6080:Plag1 UTSW 4 3,903,815 (GRCm39) missense probably benign
R6296:Plag1 UTSW 4 3,904,499 (GRCm39) missense probably damaging 1.00
R7038:Plag1 UTSW 4 3,904,676 (GRCm39) missense probably damaging 1.00
R7116:Plag1 UTSW 4 3,904,812 (GRCm39) nonsense probably null
R8435:Plag1 UTSW 4 3,905,648 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- GTGAGTGCAGAGAACTTAGACCCAC -3'
(R):5'- CCTTTGGGAATGACATGCCCCATAG -3'

Sequencing Primer
(F):5'- GAACTTAGACCCACAGTGTTTGC -3'
(R):5'- ATGCCCCATAGATATGGATGCTG -3'
Posted On 2014-04-13