Incidental Mutation 'IGL03094:Ppm1m'
ID418488
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppm1m
Ensembl Gene ENSMUSG00000020253
Gene Nameprotein phosphatase 1M
Synonyms2810423O19Rik, PP2C eta
Accession Numbers

Ncbi RefSeq: NM_026447.4, NM_198931.3; MGI:1915155

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03094
Quality Score
Status
Chromosome9
Chromosomal Location106194947-106199746 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 106196411 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Threonine at position 314 (K314T)
Ref Sequence ENSEMBL: ENSMUSP00000117908 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076258] [ENSMUST00000140761]
Predicted Effect probably damaging
Transcript: ENSMUST00000076258
AA Change: K258T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000075607
Gene: ENSMUSG00000020253
AA Change: K258T

DomainStartEndE-ValueType
PP2Cc 14 394 7.38e-44 SMART
PP2C_SIG 50 396 1.51e-3 SMART
Predicted Effect unknown
Transcript: ENSMUST00000136431
AA Change: K75T
SMART Domains Protein: ENSMUSP00000118165
Gene: ENSMUSG00000020253
AA Change: K75T

DomainStartEndE-ValueType
PP2Cc 2 200 1.93e-1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000140761
AA Change: K314T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117908
Gene: ENSMUSG00000020253
AA Change: K314T

DomainStartEndE-ValueType
PP2Cc 60 450 8.04e-45 SMART
PP2C_SIG 106 452 1.51e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150731
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152359
Predicted Effect probably benign
Transcript: ENSMUST00000213197
Predicted Effect probably benign
Transcript: ENSMUST00000215742
Coding Region Coverage
Validation Efficiency
Allele List at MGI

All alleles(8) : Targeted(2) Gene trapped(6)

Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T C 11: 110,184,112 N1375S probably benign Het
Adamts15 A T 9: 30,904,472 probably benign Het
Ahnak G A 19: 9,003,547 V732M possibly damaging Het
Akr1c19 G A 13: 4,236,185 V61I probably benign Het
BC025920 C A 10: 81,609,072 R10S probably benign Het
Cdh11 T C 8: 102,658,403 I347V probably benign Het
Cyp11b2 A G 15: 74,853,037 probably null Het
Cyp4a31 T A 4: 115,578,108 probably benign Het
Emilin3 G A 2: 160,908,729 Q320* probably null Het
Glra3 C A 8: 56,125,172 H421Q probably benign Het
Gtf2f1 T C 17: 57,007,049 N145S probably damaging Het
Hsd17b12 A T 2: 94,033,994 V256E probably damaging Het
Ighv1-34 C T 12: 114,851,338 G68E probably damaging Het
Ipo5 T C 14: 120,943,677 probably benign Het
Knop1 T A 7: 118,853,151 D63V possibly damaging Het
Krt39 T C 11: 99,520,802 probably benign Het
Ldhb T C 6: 142,505,527 K5R probably benign Het
Loxhd1 A T 18: 77,431,113 I1872F possibly damaging Het
Lrfn5 A G 12: 61,839,746 N107D probably benign Het
Mks1 A G 11: 87,855,465 probably benign Het
Nup93 C T 8: 94,296,502 T236I probably benign Het
Olfr1357 A G 10: 78,612,119 I174T possibly damaging Het
Olig3 T C 10: 19,357,130 S168P probably benign Het
Pcna C T 2: 132,251,753 E109K probably benign Het
Per3 A C 4: 151,009,298 I1020R probably damaging Het
Plbd2 T C 5: 120,486,780 N441S probably damaging Het
Plec A G 15: 76,191,319 S398P probably damaging Het
Prmt2 T A 10: 76,210,390 probably benign Het
Rbm19 T C 5: 120,122,958 S216P probably damaging Het
Sart1 A G 19: 5,384,081 probably benign Het
Tmem225 A T 9: 40,148,386 I21L possibly damaging Het
Tnnt2 T C 1: 135,849,462 probably null Het
Trappc10 A T 10: 78,228,920 probably benign Het
Trip13 A G 13: 73,932,956 L97P probably benign Het
Zmat2 T G 18: 36,796,066 V89G probably damaging Het
Other mutations in Ppm1m
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02003:Ppm1m APN 9 106199157 missense probably damaging 0.96
IGL02090:Ppm1m APN 9 106196802 critical splice donor site probably null
IGL02644:Ppm1m APN 9 106196883 missense probably damaging 1.00
IGL02691:Ppm1m APN 9 106195369 missense probably damaging 1.00
R0047:Ppm1m UTSW 9 106196696 nonsense probably null
R0047:Ppm1m UTSW 9 106196696 nonsense probably null
R0361:Ppm1m UTSW 9 106198126 missense probably damaging 1.00
R0452:Ppm1m UTSW 9 106197302 missense probably damaging 1.00
R3053:Ppm1m UTSW 9 106198675 missense probably benign
R4654:Ppm1m UTSW 9 106196402 missense probably damaging 1.00
R5121:Ppm1m UTSW 9 106195805 missense probably benign 0.03
R5450:Ppm1m UTSW 9 106196842 missense probably benign 0.02
R5516:Ppm1m UTSW 9 106197939 missense probably damaging 0.98
R6278:Ppm1m UTSW 9 106197228 missense probably damaging 1.00
R6533:Ppm1m UTSW 9 106196870 unclassified probably benign
R6746:Ppm1m UTSW 9 106198152 nonsense probably null
R7466:Ppm1m UTSW 9 106196157 missense probably damaging 0.99
R7486:Ppm1m UTSW 9 106196611 missense probably damaging 1.00
R7892:Ppm1m UTSW 9 106198696 missense probably benign
R7936:Ppm1m UTSW 9 106197945 missense probably damaging 1.00
X0022:Ppm1m UTSW 9 106198122 nonsense probably null
Posted On2016-08-02