Incidental Mutation 'R6061:Plagl1'
ID 483240
Institutional Source Beutler Lab
Gene Symbol Plagl1
Ensembl Gene ENSMUSG00000019817
Gene Name pleiomorphic adenoma gene-like 1
Synonyms Zac1
MMRRC Submission 044226-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.408) question?
Stock # R6061 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 12966576-13007438 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) G to T at 13003639 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000141514 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000121325] [ENSMUST00000121646] [ENSMUST00000121766] [ENSMUST00000193426] [ENSMUST00000143582] [ENSMUST00000130313] [ENSMUST00000145103]
AlphaFold Q9JLQ4
Predicted Effect unknown
Transcript: ENSMUST00000121325
AA Change: Q302H
SMART Domains Protein: ENSMUSP00000112889
Gene: ENSMUSG00000019817
AA Change: Q302H

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: Q302H
SMART Domains Protein: ENSMUSP00000112847
Gene: ENSMUSG00000019817
AA Change: Q302H

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: Q302H
SMART Domains Protein: ENSMUSP00000113710
Gene: ENSMUSG00000019817
AA Change: Q302H

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 noncoding transcript
Transcript: ENSMUST00000141068
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135261
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135095
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
Predicted Effect probably benign
Transcript: ENSMUST00000143582
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 probably benign
Transcript: ENSMUST00000145103
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.9%
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
A2ml1 A C 6: 128,545,675 (GRCm39) F484C probably damaging Het
Aoc1l1 A C 6: 48,953,535 (GRCm39) I487L probably benign Het
Cdsn A G 17: 35,865,803 (GRCm39) S111G unknown Het
Ctnnal1 T C 4: 56,812,349 (GRCm39) T726A probably benign Het
Cyp2j11 T A 4: 96,236,853 (GRCm39) probably benign Het
Ddx60 T A 8: 62,476,275 (GRCm39) M1541K probably null Het
Dnah14 C T 1: 181,536,616 (GRCm39) P2420S probably damaging Het
Fhit T C 14: 9,573,435 (GRCm38) E205G probably benign Het
Glipr1l1 C T 10: 111,912,075 (GRCm39) T203M probably benign Het
Gm4353 T A 7: 115,683,504 (GRCm39) D97V probably benign Het
Gprc6a A T 10: 51,491,907 (GRCm39) I543K probably damaging Het
Ifi205 T C 1: 173,854,830 (GRCm39) T110A possibly damaging Het
Med27 T A 2: 29,399,453 (GRCm39) S95T probably damaging Het
Mocs1 T C 17: 49,757,341 (GRCm39) S308P probably damaging Het
Mrpl11 C T 19: 5,013,397 (GRCm39) S88F possibly damaging Het
Nav3 A T 10: 109,702,845 (GRCm39) Y229* probably null Het
Or2f1b A T 6: 42,739,899 (GRCm39) L304F probably damaging Het
Or2n1e A G 17: 38,585,772 (GRCm39) M37V probably benign Het
Or52n2c C T 7: 104,574,599 (GRCm39) R124H probably benign Het
Or52r1 C A 7: 102,537,158 (GRCm39) L67F probably benign Het
Or5g27 T A 2: 85,409,886 (GRCm39) M101K possibly damaging Het
Pear1 A G 3: 87,663,238 (GRCm39) I460T probably benign Het
Phc3 T A 3: 30,968,678 (GRCm39) K816N probably damaging Het
Phf19 T A 2: 34,787,129 (GRCm39) D445V probably damaging Het
Pkd2l2 T C 18: 34,563,742 (GRCm39) F486L probably damaging Het
Prkca A G 11: 107,948,671 (GRCm39) I106T probably benign Het
Ptpn3 C T 4: 57,248,681 (GRCm39) G218R probably damaging Het
Ptx3 A G 3: 66,132,130 (GRCm39) D217G possibly damaging Het
Rab3d T C 9: 21,821,815 (GRCm39) T209A probably benign Het
Rfx2 A G 17: 57,084,473 (GRCm39) F642S possibly damaging Het
Rhpn2 T A 7: 35,075,636 (GRCm39) M271K possibly damaging Het
Serpinb6b A G 13: 33,161,977 (GRCm39) T259A probably damaging Het
Speer3 G A 5: 13,844,705 (GRCm39) V123M possibly damaging Het
Svil T G 18: 5,106,724 (GRCm39) V1855G probably damaging Het
Thbs4 A G 13: 92,888,303 (GRCm39) F950L probably benign Het
Tiparp T C 3: 65,460,664 (GRCm39) V551A probably damaging Het
Vmn2r71 T A 7: 85,268,482 (GRCm39) D228E probably benign Het
Vmn2r85 T C 10: 130,261,531 (GRCm39) I269V probably benign Het
Vps9d1 A T 8: 123,972,410 (GRCm39) M497K probably damaging Het
Wnt5b A G 6: 119,410,603 (GRCm39) V241A probably damaging Het
Xdh T C 17: 74,228,342 (GRCm39) N353S probably damaging Het
Zfp526 C T 7: 24,925,757 (GRCm39) T672M probably damaging Het
Other mutations in Plagl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00516:Plagl1 APN 10 13,003,616 (GRCm39) unclassified probably benign
R0554:Plagl1 UTSW 10 13,002,926 (GRCm39) missense probably benign 0.07
R0842:Plagl1 UTSW 10 13,004,298 (GRCm39) unclassified probably benign
R0967:Plagl1 UTSW 10 13,003,986 (GRCm39) unclassified probably benign
R1610:Plagl1 UTSW 10 13,004,706 (GRCm39) unclassified probably benign
R2002:Plagl1 UTSW 10 13,004,402 (GRCm39) unclassified probably benign
R2107:Plagl1 UTSW 10 13,004,391 (GRCm39) unclassified probably benign
R2108:Plagl1 UTSW 10 13,004,391 (GRCm39) unclassified probably benign
R2191:Plagl1 UTSW 10 13,004,685 (GRCm39) unclassified probably benign
R4061:Plagl1 UTSW 10 13,004,515 (GRCm39) unclassified probably benign
R4062:Plagl1 UTSW 10 13,004,515 (GRCm39) unclassified probably benign
R4631:Plagl1 UTSW 10 13,003,743 (GRCm39) unclassified probably benign
R4924:Plagl1 UTSW 10 13,003,301 (GRCm39) missense possibly damaging 0.85
R5071:Plagl1 UTSW 10 13,003,005 (GRCm39) missense probably damaging 1.00
R5138:Plagl1 UTSW 10 13,003,919 (GRCm39) unclassified probably benign
R5893:Plagl1 UTSW 10 13,003,938 (GRCm39) unclassified probably benign
R5971:Plagl1 UTSW 10 13,003,490 (GRCm39) missense probably damaging 1.00
R6138:Plagl1 UTSW 10 13,003,490 (GRCm39) missense probably damaging 1.00
R6170:Plagl1 UTSW 10 13,002,975 (GRCm39) missense probably damaging 1.00
R6625:Plagl1 UTSW 10 13,003,806 (GRCm39) unclassified probably benign
R6970:Plagl1 UTSW 10 13,000,860 (GRCm39) missense probably damaging 1.00
R7035:Plagl1 UTSW 10 13,003,977 (GRCm39) unclassified probably benign
R8265:Plagl1 UTSW 10 13,004,625 (GRCm39) missense unknown
R9145:Plagl1 UTSW 10 13,003,872 (GRCm39) missense unknown
R9668:Plagl1 UTSW 10 13,004,466 (GRCm39) missense unknown
R9676:Plagl1 UTSW 10 13,003,955 (GRCm39) missense unknown
U15987:Plagl1 UTSW 10 13,003,490 (GRCm39) missense probably damaging 1.00
Z1176:Plagl1 UTSW 10 13,004,460 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- ATGCCTCCTTTCCAGCTAGG -3'
(R):5'- CAGAGTGAAAGACGGCTCTG -3'

Sequencing Primer
(F):5'- CATGGTCTAGTGCTTGCT -3'
(R):5'- AAGACGGCTCTGGCATTG -3'
Posted On 2017-07-14