Incidental Mutation 'IGL01608:Ppm1h'
ID91863
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppm1h
Ensembl Gene ENSMUSG00000034613
Gene Nameprotein phosphatase 1H (PP2C domain containing)
SynonymsARHCL1, A430075L18Rik, C030002B11Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.082) question?
Stock #IGL01608
Quality Score
Status
Chromosome10
Chromosomal Location122678762-122945795 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to T at 122941280 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Stop codon at position 103 (R103*)
Ref Sequence ENSEMBL: ENSMUSP00000124006 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067918] [ENSMUST00000162969]
Predicted Effect probably null
Transcript: ENSMUST00000067918
AA Change: R484*
SMART Domains Protein: ENSMUSP00000066561
Gene: ENSMUSG00000034613
AA Change: R484*

DomainStartEndE-ValueType
low complexity region 19 33 N/A INTRINSIC
PP2Cc 67 504 1.22e-35 SMART
PP2C_SIG 136 506 1.59e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161065
Predicted Effect probably null
Transcript: ENSMUST00000162969
AA Change: R103*
SMART Domains Protein: ENSMUSP00000124006
Gene: ENSMUSG00000034613
AA Change: R103*

DomainStartEndE-ValueType
Pfam:PP2C 2 99 2.9e-14 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4732456N10Rik A G 15: 101,562,629 I66T probably benign Het
Abca1 A T 4: 53,038,158 L2068Q probably damaging Het
Abca12 G T 1: 71,259,442 D2340E probably damaging Het
Adcy5 A G 16: 35,272,165 Y632C probably damaging Het
Adgrb3 A G 1: 25,553,774 S311P probably damaging Het
Adh4 C T 3: 138,429,027 probably benign Het
AF529169 T C 9: 89,596,498 T832A probably benign Het
Atf2 G T 2: 73,819,078 H396Q probably damaging Het
Atp8a1 G A 5: 67,813,136 R74* probably null Het
Brpf3 T C 17: 28,821,517 S971P probably benign Het
Btn1a1 T C 13: 23,461,608 E197G probably benign Het
Ccdc136 C T 6: 29,406,114 A87V possibly damaging Het
Celf4 A G 18: 25,497,503 L376P probably damaging Het
Chrm3 G A 13: 9,878,598 A134V possibly damaging Het
Col19a1 G A 1: 24,282,545 R961C probably damaging Het
Cr2 A G 1: 195,155,220 V1190A possibly damaging Het
Dopey1 T A 9: 86,507,561 S515T probably benign Het
Eprs T A 1: 185,385,114 probably benign Het
Fbn2 G T 18: 58,053,704 Y1708* probably null Het
Glt1d1 A G 5: 127,664,682 N148S possibly damaging Het
Gm20425 T A 9: 103,191,094 I44F probably damaging Het
Gpr22 T A 12: 31,708,780 K411* probably null Het
Ipo11 A G 13: 106,834,494 probably benign Het
Klri1 T A 6: 129,698,167 N210I possibly damaging Het
Kmt2c C T 5: 25,354,811 V950M probably damaging Het
Knop1 T C 7: 118,845,796 K315R probably benign Het
Lrrc32 T A 7: 98,499,357 V448D probably benign Het
Met T C 6: 17,558,730 V1119A probably damaging Het
Mipep T A 14: 60,802,230 I236N possibly damaging Het
Mrpl45 A G 11: 97,316,921 T81A probably benign Het
Mtbp G T 15: 55,557,689 E24* probably null Het
Muc5b C T 7: 141,846,437 T476I unknown Het
Mup6 C T 4: 60,006,021 T163I probably benign Het
Myo1g T A 11: 6,516,780 I278F possibly damaging Het
Myo9a A T 9: 59,870,836 K1292* probably null Het
Nbeal1 T A 1: 60,242,535 probably benign Het
Nck1 C A 9: 100,497,387 R270S probably benign Het
Neb T C 2: 52,170,536 E6035G probably damaging Het
Nlrp4f A C 13: 65,195,543 L96* probably null Het
Olfr1250 A T 2: 89,656,491 probably benign Het
Olfr141 A C 2: 86,806,425 Y191* probably null Het
Olfr606 A T 7: 103,451,804 I156F probably benign Het
Olfr738 A T 14: 50,414,453 H303L probably benign Het
Padi2 A G 4: 140,932,230 E282G probably damaging Het
Pcdhb4 A G 18: 37,308,750 D371G probably damaging Het
Pcdhb8 A G 18: 37,356,925 D552G probably damaging Het
Peli3 A G 19: 4,932,827 I270T probably damaging Het
Phf20 A G 2: 156,276,596 M407V probably benign Het
Rangap1 C T 15: 81,709,504 V457M probably benign Het
Scube2 A G 7: 109,843,254 V257A probably benign Het
Shc1 C A 3: 89,424,849 Q204K probably damaging Het
Slc6a4 T A 11: 77,027,135 Y568N probably damaging Het
Srgap3 A G 6: 112,946,478 F7L probably benign Het
St6galnac4 T A 2: 32,594,086 C99S probably damaging Het
Strc T C 2: 121,375,594 D779G probably benign Het
Supt6 A T 11: 78,225,483 Y685N probably damaging Het
Traf3ip3 T C 1: 193,187,110 T256A probably benign Het
Vmn1r74 A T 7: 11,847,633 I287F probably damaging Het
Zmym2 C A 14: 56,948,015 Q1035K possibly damaging Het
Zswim3 G A 2: 164,821,520 R640H probably damaging Het
Other mutations in Ppm1h
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01025:Ppm1h APN 10 122878629 critical splice donor site probably null
IGL01060:Ppm1h APN 10 122907571 missense possibly damaging 0.49
IGL01557:Ppm1h APN 10 122782181 critical splice acceptor site probably null
IGL02112:Ppm1h APN 10 122802400 missense possibly damaging 0.86
R0129:Ppm1h UTSW 10 122941355 missense probably damaging 0.97
R0217:Ppm1h UTSW 10 122920735 missense probably damaging 1.00
R0309:Ppm1h UTSW 10 122920782 missense probably damaging 1.00
R0455:Ppm1h UTSW 10 122802324 missense probably benign 0.00
R1144:Ppm1h UTSW 10 122941278 missense probably benign 0.01
R1430:Ppm1h UTSW 10 122857099 missense probably damaging 1.00
R2014:Ppm1h UTSW 10 122920725 missense possibly damaging 0.79
R2021:Ppm1h UTSW 10 122878528 nonsense probably null
R2882:Ppm1h UTSW 10 122941334 missense probably damaging 0.99
R3767:Ppm1h UTSW 10 122904122 missense probably damaging 1.00
R3768:Ppm1h UTSW 10 122904122 missense probably damaging 1.00
R3770:Ppm1h UTSW 10 122904122 missense probably damaging 1.00
R4816:Ppm1h UTSW 10 122679379 missense possibly damaging 0.89
R4996:Ppm1h UTSW 10 122941340 missense probably damaging 1.00
R5640:Ppm1h UTSW 10 122782278 missense probably benign 0.30
R6199:Ppm1h UTSW 10 122920739 missense probably damaging 1.00
R7759:Ppm1h UTSW 10 122904113 missense probably benign
Posted On2013-12-09