Incidental Mutation 'R6568:Mplkip'
ID 526171
Institutional Source Beutler Lab
Gene Symbol Mplkip
Ensembl Gene ENSMUSG00000012429
Gene Name M-phase specific PLK1 intereacting protein
Synonyms 2810021B07Rik, C330007M08Rik
MMRRC Submission 044692-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6568 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 17869998-17873697 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 17870262 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 65 (S65P)
Ref Sequence ENSEMBL: ENSMUSP00000059154 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049744] [ENSMUST00000068545] [ENSMUST00000220514] [ENSMUST00000221480] [ENSMUST00000221598]
AlphaFold Q9D011
Predicted Effect probably damaging
Transcript: ENSMUST00000049744
AA Change: S65P

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000059154
Gene: ENSMUSG00000012429
AA Change: S65P

DomainStartEndE-ValueType
Pfam:MPLKIP 1 170 4.8e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000068545
SMART Domains Protein: ENSMUSP00000070759
Gene: ENSMUSG00000055137

DomainStartEndE-ValueType
low complexity region 12 28 N/A INTRINSIC
Pfam:CoA_transf_3 39 406 3.4e-127 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000220514
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221138
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221467
Predicted Effect probably benign
Transcript: ENSMUST00000221480
Predicted Effect probably benign
Transcript: ENSMUST00000221598
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222292
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene localizes to the centrosome during mitosis and to the midbody during cytokinesis. The protein is phosphorylated by cyclin-dependent kinase 1 during mitosis and subsequently interacts with polo-like kinase 1. The protein is thought to function in regulating mitosis and cytokinesis. Mutations in this gene result in nonphotosensitive trichothiodystrophy. [provided by RefSeq, Nov 2009]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310009B15Rik T C 1: 138,779,872 (GRCm39) K127E possibly damaging Het
Ash1l G A 3: 88,959,344 (GRCm39) M2240I probably benign Het
Bhmt1b A T 18: 87,775,566 (GRCm39) Y363F probably benign Het
Ccr5 G A 9: 123,925,236 (GRCm39) A280T probably damaging Het
Ceacam5 C T 7: 17,479,416 (GRCm39) L178F probably damaging Het
Col2a1 T C 15: 97,875,157 (GRCm39) N1259S unknown Het
Doc2b A C 11: 75,667,820 (GRCm39) probably null Het
Fryl T C 5: 73,216,859 (GRCm39) N2144D probably damaging Het
Hdac1-ps A G 17: 78,800,017 (GRCm39) Y336C probably damaging Het
Ighv1-34 A T 12: 114,815,231 (GRCm39) W5R probably benign Het
Kdr A G 5: 76,122,434 (GRCm39) V497A probably benign Het
Miip T A 4: 147,950,372 (GRCm39) M75L probably benign Het
Ms4a13 A G 19: 11,168,923 (GRCm39) L34P probably damaging Het
Myo1c C T 11: 75,562,461 (GRCm39) P918S probably benign Het
Nek1 T C 8: 61,559,855 (GRCm39) S896P probably benign Het
Or5ac17 A T 16: 59,036,641 (GRCm39) C112S probably benign Het
Polr3b T A 10: 84,470,767 (GRCm39) M136K probably damaging Het
Rgsl1 A C 1: 153,697,292 (GRCm39) W508G possibly damaging Het
Ros1 A T 10: 52,038,908 (GRCm39) M354K probably damaging Het
Slc34a2 T C 5: 53,226,476 (GRCm39) L533P probably damaging Het
Taf2 G A 15: 54,928,026 (GRCm39) L126F probably damaging Het
Tlr12 T C 4: 128,511,785 (GRCm39) D155G probably benign Het
Trpm2 C T 10: 77,773,660 (GRCm39) R585Q probably benign Het
Zfp942 T G 17: 22,148,043 (GRCm39) K195N probably benign Het
Other mutations in Mplkip
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0126:Mplkip UTSW 13 17,870,337 (GRCm39) missense possibly damaging 0.85
R0277:Mplkip UTSW 13 17,871,565 (GRCm39) missense possibly damaging 0.75
R0323:Mplkip UTSW 13 17,871,565 (GRCm39) missense possibly damaging 0.75
R5240:Mplkip UTSW 13 17,870,304 (GRCm39) missense probably damaging 0.98
R7072:Mplkip UTSW 13 17,870,122 (GRCm39) missense unknown
R7653:Mplkip UTSW 13 17,870,367 (GRCm39) missense probably damaging 0.97
R8177:Mplkip UTSW 13 17,870,205 (GRCm39) missense probably benign 0.23
Z1177:Mplkip UTSW 13 17,870,027 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- TGATATGCACCGACCGAATTTTC -3'
(R):5'- AGAGCAGTTTCTGTGGACAG -3'

Sequencing Primer
(F):5'- GAATTTTCGACCCCCAACTCC -3'
(R):5'- GGTTACTCATCTGCAAAACTGGGC -3'
Posted On 2018-06-22