Incidental Mutation 'IGL00659:Plrg1'
ID 13063
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plrg1
Ensembl Gene ENSMUSG00000027998
Gene Name pleiotropic regulator 1
Synonyms Tango4
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00659
Quality Score
Status
Chromosome 3
Chromosomal Location 82962845-82979598 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 82977980 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 400 (S400T)
Ref Sequence ENSEMBL: ENSMUSP00000113614 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029628] [ENSMUST00000122128] [ENSMUST00000150268]
AlphaFold Q922V4
Predicted Effect probably benign
Transcript: ENSMUST00000029628
SMART Domains Protein: ENSMUSP00000029628
Gene: ENSMUSG00000027998

DomainStartEndE-ValueType
WD40 192 231 1.92e-10 SMART
WD40 234 273 1.68e-6 SMART
WD40 276 315 1.96e-7 SMART
WD40 318 357 5.95e-7 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000122128
AA Change: S400T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113614
Gene: ENSMUSG00000027998
AA Change: S400T

DomainStartEndE-ValueType
WD40 183 222 1.92e-10 SMART
WD40 225 264 1.68e-6 SMART
WD40 267 306 1.96e-7 SMART
WD40 309 348 5.95e-7 SMART
WD40 351 389 1.12e-2 SMART
WD40 392 430 5.47e-6 SMART
WD40 442 480 5.97e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135813
Predicted Effect probably benign
Transcript: ENSMUST00000150268
AA Change: S409T

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000114968
Gene: ENSMUSG00000027998
AA Change: S409T

DomainStartEndE-ValueType
WD40 192 231 1.92e-10 SMART
WD40 234 273 1.68e-6 SMART
WD40 276 315 1.96e-7 SMART
WD40 318 357 5.95e-7 SMART
WD40 360 398 1.12e-2 SMART
WD40 401 439 5.47e-6 SMART
WD40 451 489 5.97e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151915
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 core component of the cell division cycle 5-like (CDC5L) complex. The CDC5L complex is part of the spliceosome and is required for pre-mRNA splicing. The encoded protein plays a critical role in alternative splice site selection. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality by E1.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap4e1 T C 2: 126,905,221 (GRCm39) V964A probably benign Het
Birc6 T A 17: 74,967,648 (GRCm39) V4197E probably damaging Het
C8b T A 4: 104,658,531 (GRCm39) probably benign Het
Cdh13 A G 8: 120,039,406 (GRCm39) D616G probably damaging Het
Cfi A G 3: 129,630,462 (GRCm39) K2E unknown Het
Chek1 C A 9: 36,633,895 (GRCm39) probably null Het
Chst11 T G 10: 83,027,639 (GRCm39) probably benign Het
Dhx29 A G 13: 113,103,169 (GRCm39) probably benign Het
Erbb3 A G 10: 128,406,852 (GRCm39) S1049P probably damaging Het
Fkbp15 T C 4: 62,251,917 (GRCm39) probably benign Het
Fxr2 C A 11: 69,531,076 (GRCm39) Q51K probably benign Het
Kpna7 T A 5: 144,944,056 (GRCm39) I50F probably damaging Het
Mdm2 T C 10: 117,538,204 (GRCm39) R65G possibly damaging Het
N4bp1 G T 8: 87,588,430 (GRCm39) D169E probably damaging Het
Nlrp9a A G 7: 26,257,050 (GRCm39) I134V probably benign Het
Polr1b T C 2: 128,960,020 (GRCm39) probably null Het
Sec23b T C 2: 144,425,690 (GRCm39) probably null Het
Ubr4 C T 4: 139,148,556 (GRCm39) T1680I probably damaging Het
Usp29 A G 7: 6,965,281 (GRCm39) N375D probably benign Het
Wrn A G 8: 33,812,405 (GRCm39) probably benign Het
Zfp422 G A 6: 116,603,466 (GRCm39) Q178* probably null Het
Zfp938 T A 10: 82,063,355 (GRCm39) probably benign Het
Other mutations in Plrg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00824:Plrg1 APN 3 82,975,642 (GRCm39) missense probably damaging 1.00
IGL00948:Plrg1 APN 3 82,975,426 (GRCm39) missense probably damaging 1.00
IGL02550:Plrg1 APN 3 82,968,430 (GRCm39) critical splice donor site probably null
R0743:Plrg1 UTSW 3 82,967,224 (GRCm39) missense probably benign 0.11
R1624:Plrg1 UTSW 3 82,977,051 (GRCm39) missense probably damaging 1.00
R1624:Plrg1 UTSW 3 82,975,301 (GRCm39) splice site probably benign
R1630:Plrg1 UTSW 3 82,966,070 (GRCm39) missense probably benign 0.00
R1876:Plrg1 UTSW 3 82,976,375 (GRCm39) splice site probably benign
R2383:Plrg1 UTSW 3 82,973,255 (GRCm39) missense probably damaging 1.00
R2892:Plrg1 UTSW 3 82,978,547 (GRCm39) missense probably damaging 1.00
R3406:Plrg1 UTSW 3 82,978,526 (GRCm39) missense probably damaging 1.00
R5114:Plrg1 UTSW 3 82,978,558 (GRCm39) missense probably benign 0.13
R5922:Plrg1 UTSW 3 82,964,155 (GRCm39) missense possibly damaging 0.77
R6333:Plrg1 UTSW 3 82,964,102 (GRCm39) missense probably damaging 1.00
R7127:Plrg1 UTSW 3 82,967,222 (GRCm39) missense probably damaging 1.00
R7530:Plrg1 UTSW 3 82,965,989 (GRCm39) missense probably damaging 1.00
R7814:Plrg1 UTSW 3 82,964,144 (GRCm39) missense probably damaging 1.00
R8123:Plrg1 UTSW 3 82,973,237 (GRCm39) missense probably benign 0.16
R8131:Plrg1 UTSW 3 82,977,081 (GRCm39) missense probably damaging 1.00
R9332:Plrg1 UTSW 3 82,976,308 (GRCm39) missense possibly damaging 0.61
Posted On 2012-12-06