Incidental Mutation 'IGL00516:Plagl1'
ID4766
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plagl1
Ensembl Gene ENSMUSG00000019817
Gene Namepleiomorphic adenoma gene-like 1
SynonymsZac1
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.396) question?
Stock #IGL00516
Quality Score
Status
Chromosome10
Chromosomal Location13060504-13131694 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) A to G at 13127872 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000141514 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000121325] [ENSMUST00000121646] [ENSMUST00000121766] [ENSMUST00000130313] [ENSMUST00000143582] [ENSMUST00000145103] [ENSMUST00000193426]
Predicted Effect unknown
Transcript: ENSMUST00000121325
AA Change: M295V
SMART Domains Protein: ENSMUSP00000112889
Gene: ENSMUSG00000019817
AA Change: M295V

DomainStartEndE-ValueType
ZnF_C2H2 4 26 2.36e-2 SMART
ZnF_C2H2 32 56 7.9e-4 SMART
ZnF_C2H2 62 84 2.95e-3 SMART
ZnF_C2H2 91 113 2.71e-2 SMART
ZnF_C2H2 120 142 6.57e0 SMART
ZnF_C2H2 156 178 6.32e-3 SMART
ZnF_C2H2 184 207 1.25e-1 SMART
low complexity region 270 385 N/A INTRINSIC
coiled coil region 640 657 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000121646
AA Change: M295V
SMART Domains Protein: ENSMUSP00000112847
Gene: ENSMUSG00000019817
AA Change: M295V

DomainStartEndE-ValueType
ZnF_C2H2 4 26 2.36e-2 SMART
ZnF_C2H2 32 56 7.9e-4 SMART
ZnF_C2H2 62 84 2.95e-3 SMART
ZnF_C2H2 91 113 2.71e-2 SMART
ZnF_C2H2 120 142 6.57e0 SMART
ZnF_C2H2 156 178 6.32e-3 SMART
ZnF_C2H2 184 207 1.25e-1 SMART
low complexity region 270 385 N/A INTRINSIC
coiled coil region 640 657 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000121766
AA Change: M295V
SMART Domains Protein: ENSMUSP00000113710
Gene: ENSMUSG00000019817
AA Change: M295V

DomainStartEndE-ValueType
ZnF_C2H2 4 26 2.36e-2 SMART
ZnF_C2H2 32 56 7.9e-4 SMART
ZnF_C2H2 62 84 2.95e-3 SMART
ZnF_C2H2 91 113 2.71e-2 SMART
ZnF_C2H2 120 142 6.57e0 SMART
ZnF_C2H2 156 178 6.32e-3 SMART
ZnF_C2H2 184 207 1.25e-1 SMART
low complexity region 270 385 N/A INTRINSIC
coiled coil region 640 657 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123135
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124252
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126880
Predicted Effect probably benign
Transcript: ENSMUST00000130313
SMART Domains Protein: ENSMUSP00000117321
Gene: ENSMUSG00000019817

DomainStartEndE-ValueType
ZnF_C2H2 4 26 2.36e-2 SMART
ZnF_C2H2 32 56 7.9e-4 SMART
ZnF_C2H2 62 84 2.95e-3 SMART
ZnF_C2H2 91 113 2.71e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135095
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135261
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141068
Predicted Effect probably benign
Transcript: ENSMUST00000143582
Predicted Effect probably benign
Transcript: ENSMUST00000145103
Predicted Effect probably benign
Transcript: ENSMUST00000193426
SMART Domains Protein: ENSMUSP00000141514
Gene: ENSMUSG00000019817

DomainStartEndE-ValueType
ZnF_C2H2 4 26 1e-4 SMART
ZnF_C2H2 32 56 3.2e-6 SMART
ZnF_C2H2 62 84 1.3e-5 SMART
ZnF_C2H2 91 113 1.1e-4 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a C2H2 zinc finger protein that functions as a suppressor of cell growth. This gene is often deleted or methylated and silenced in cancer cells. In addition, overexpression of this gene during fetal development is thought to be the causal factor for transient neonatal diabetes mellitus (TNDM). Alternative splicing and the use of alternative promoters results in multiple transcript variants encoding two different protein isoforms. The P1 downstream promoter of this gene is imprinted, with preferential expression from the paternal allele in many tissues. [provided by RefSeq, Nov 2015]
PHENOTYPE: Homozygous null mice exhibit significantly reduced birth weights. Heterozygous mice with a paternal copy of the null allele show reduced fetal and birth weights, altered ossification, dyspnea and background-dependent neonatal lethality, as well as wrinkled skin and curly tails with 30% penetrance. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730455P16Rik T C 11: 80,376,812 D91G possibly damaging Het
Abcc1 T A 16: 14,413,312 L438* probably null Het
Asph A T 4: 9,639,322 N14K probably damaging Het
Baz1b T C 5: 135,216,590 Y298H probably damaging Het
Ccdc66 A T 14: 27,498,456 W267R probably damaging Het
Cd81 A C 7: 143,067,164 K193N probably damaging Het
Cdkn1a C A 17: 29,098,520 A38E possibly damaging Het
Cflar T C 1: 58,732,310 I199T probably benign Het
Cmya5 A G 13: 93,098,167 S138P possibly damaging Het
Cnot1 T C 8: 95,726,079 N2123S probably damaging Het
Crybg3 A G 16: 59,530,440 S846P probably benign Het
Cyp2d9 A G 15: 82,455,094 I21M probably benign Het
Ddx41 T C 13: 55,532,467 T371A probably damaging Het
Dnhd1 A T 7: 105,657,211 I425F possibly damaging Het
Dsc1 T C 18: 20,101,886 D237G probably damaging Het
Emc1 T C 4: 139,355,082 probably benign Het
Epc1 T A 18: 6,450,515 D367V probably damaging Het
Glp1r A G 17: 30,925,558 Y235C probably damaging Het
Helb A G 10: 120,105,424 V453A probably damaging Het
Hras A G 7: 141,192,870 I24T possibly damaging Het
Hsf2 A T 10: 57,512,028 I423L probably benign Het
Igkv2-109 T A 6: 68,303,070 S92T probably benign Het
Kiss1r G A 10: 79,918,716 A15T possibly damaging Het
Krt79 T C 15: 101,940,166 S17G probably damaging Het
Lrrc14b T C 13: 74,360,959 D443G probably damaging Het
Map4k4 T A 1: 40,014,602 V953E probably damaging Het
Mybpc2 G A 7: 44,505,405 probably benign Het
Nadsyn1 T C 7: 143,812,793 E173G probably damaging Het
Neurl4 C T 11: 69,910,393 R1199W probably damaging Het
Otog T A 7: 46,251,282 V333E probably damaging Het
Pdcd2l A T 7: 34,184,821 probably null Het
Rbm34 T C 8: 126,969,986 N122S probably benign Het
Shank2 A G 7: 144,410,775 K917E possibly damaging Het
Slc17a8 T C 10: 89,591,295 K315E possibly damaging Het
Sp110 A C 1: 85,577,329 F434C probably benign Het
Sytl2 A G 7: 90,372,905 T183A probably benign Het
Tnik T A 3: 28,654,218 I1067N probably damaging Het
Tpd52l2 A G 2: 181,513,068 D192G probably damaging Het
Trhde A T 10: 114,446,199 I791N probably benign Het
Ttc28 A T 5: 111,225,688 N966Y probably damaging Het
Vps13b A T 15: 35,640,557 D1356V probably damaging Het
Zmym2 A G 14: 56,947,937 probably benign Het
Other mutations in Plagl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0554:Plagl1 UTSW 10 13127182 missense probably benign 0.07
R0842:Plagl1 UTSW 10 13128554 unclassified probably benign
R0967:Plagl1 UTSW 10 13128242 unclassified probably benign
R1610:Plagl1 UTSW 10 13128962 unclassified probably benign
R2002:Plagl1 UTSW 10 13128658 unclassified probably benign
R2107:Plagl1 UTSW 10 13128647 unclassified probably benign
R2108:Plagl1 UTSW 10 13128647 unclassified probably benign
R2191:Plagl1 UTSW 10 13128941 unclassified probably benign
R4061:Plagl1 UTSW 10 13128771 unclassified probably benign
R4062:Plagl1 UTSW 10 13128771 unclassified probably benign
R4631:Plagl1 UTSW 10 13127999 unclassified probably benign
R4924:Plagl1 UTSW 10 13127557 missense possibly damaging 0.85
R5071:Plagl1 UTSW 10 13127261 missense probably damaging 1.00
R5138:Plagl1 UTSW 10 13128175 unclassified probably benign
R5893:Plagl1 UTSW 10 13128194 unclassified probably benign
R5971:Plagl1 UTSW 10 13127746 missense probably damaging 1.00
R6061:Plagl1 UTSW 10 13127895 unclassified probably benign
R6138:Plagl1 UTSW 10 13127746 missense probably damaging 1.00
R6170:Plagl1 UTSW 10 13127231 missense probably damaging 1.00
R6625:Plagl1 UTSW 10 13128062 unclassified probably benign
R6970:Plagl1 UTSW 10 13125116 missense probably damaging 1.00
R7035:Plagl1 UTSW 10 13128233 unclassified probably benign
U15987:Plagl1 UTSW 10 13127746 missense probably damaging 1.00
Z1176:Plagl1 UTSW 10 13128716 missense unknown
Posted On2012-04-20