Incidental Mutation 'IGL02724:Plekhm3'
ID 305118
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plekhm3
Ensembl Gene ENSMUSG00000051344
Gene Name pleckstrin homology domain containing, family M, member 3
Synonyms Plekhm1l, A230102O09Rik, 9430067K14Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.242) question?
Stock # IGL02724
Quality Score
Status
Chromosome 1
Chromosomal Location 64828279-64995983 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 64834276 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 736 (S736P)
Ref Sequence ENSEMBL: ENSMUSP00000138002 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097713] [ENSMUST00000139649]
AlphaFold Q8BM47
Predicted Effect probably damaging
Transcript: ENSMUST00000097713
AA Change: S736P

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000095320
Gene: ENSMUSG00000051344
AA Change: S736P

DomainStartEndE-ValueType
low complexity region 184 195 N/A INTRINSIC
PH 213 311 4.86e-3 SMART
PH 362 458 7.88e-12 SMART
low complexity region 489 503 N/A INTRINSIC
DUF4206 529 732 2.73e-114 SMART
C1 670 722 3.9e-2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000139649
AA Change: S736P

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000138002
Gene: ENSMUSG00000051344
AA Change: S736P

DomainStartEndE-ValueType
low complexity region 184 195 N/A INTRINSIC
PH 213 311 4.86e-3 SMART
PH 362 458 7.88e-12 SMART
low complexity region 489 503 N/A INTRINSIC
DUF4206 529 732 2.73e-114 SMART
C1 670 722 3.9e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187188
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Accs T G 2: 93,676,121 (GRCm39) K85Q probably damaging Het
Acmsd A T 1: 127,676,822 (GRCm39) T116S possibly damaging Het
Agrn T A 4: 156,257,264 (GRCm39) K1189* probably null Het
Alk T C 17: 72,292,455 (GRCm39) R508G probably benign Het
Arhgap23 T A 11: 97,382,005 (GRCm39) Y1123N probably damaging Het
Arl6ip5 G T 6: 97,209,365 (GRCm39) M133I probably benign Het
Axin2 G A 11: 108,833,772 (GRCm39) G573D possibly damaging Het
B4galt2 A G 4: 117,734,075 (GRCm39) probably null Het
Baz2b G T 2: 59,807,718 (GRCm39) D180E possibly damaging Het
Btnl6 G T 17: 34,727,149 (GRCm39) Y460* probably null Het
Cct7 A T 6: 85,436,131 (GRCm39) D14V probably damaging Het
Cd55 T A 1: 130,377,149 (GRCm39) probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cdh2 C T 18: 16,762,537 (GRCm39) R526Q probably benign Het
Chi3l1 A C 1: 134,116,981 (GRCm39) E315A probably damaging Het
Cmya5 A G 13: 93,233,163 (GRCm39) S642P probably benign Het
Cpm C A 10: 117,465,756 (GRCm39) T43K probably damaging Het
Cracd T C 5: 77,006,306 (GRCm39) V889A unknown Het
Cyp8b1 A T 9: 121,744,453 (GRCm39) V293D probably benign Het
Dock1 T G 7: 134,765,082 (GRCm39) D1691E probably benign Het
Fasn T C 11: 120,700,659 (GRCm39) D2120G probably benign Het
Gal3st4 T C 5: 138,263,679 (GRCm39) K440R probably benign Het
Gfpt1 A T 6: 87,033,164 (GRCm39) K130* probably null Het
Gpr26 T C 7: 131,576,121 (GRCm39) probably null Het
Htr2a A T 14: 74,882,502 (GRCm39) I163F probably damaging Het
Ift70a2 T C 2: 75,806,682 (GRCm39) E610G probably benign Het
Insrr A G 3: 87,716,879 (GRCm39) D673G probably benign Het
Ipo8 G T 6: 148,692,979 (GRCm39) C636* probably null Het
Kirrel1 C A 3: 86,997,780 (GRCm39) E248* probably null Het
Lrp6 A G 6: 134,461,228 (GRCm39) V743A probably damaging Het
Lrrc45 C A 11: 120,609,144 (GRCm39) S374R probably benign Het
Map3k9 G A 12: 81,771,516 (GRCm39) P714S probably benign Het
Mrgprb8 T A 7: 48,039,121 (GRCm39) L264Q possibly damaging Het
Mroh4 C A 15: 74,478,000 (GRCm39) W902L probably benign Het
Nfat5 T A 8: 108,085,367 (GRCm39) D535E probably damaging Het
Nfatc3 T C 8: 106,834,817 (GRCm39) V713A probably benign Het
Npc1l1 C T 11: 6,164,684 (GRCm39) V1122M possibly damaging Het
Nsg2 A G 11: 32,005,011 (GRCm39) probably null Het
Or4c15 C A 2: 88,759,792 (GRCm39) R289L probably damaging Het
Or8s10 T A 15: 98,335,660 (GRCm39) F103L probably benign Het
Pax9 A T 12: 56,756,604 (GRCm39) H314L possibly damaging Het
Phf21a A T 2: 92,190,592 (GRCm39) I584F probably damaging Het
Pip5k1c A G 10: 81,149,296 (GRCm39) E536G probably benign Het
Ppp3cb T A 14: 20,573,645 (GRCm39) probably null Het
Prdm9 A T 17: 15,783,522 (GRCm39) S14R probably benign Het
Proc A G 18: 32,267,925 (GRCm39) I71T probably damaging Het
Prom2 T A 2: 127,380,577 (GRCm39) probably benign Het
Psd T C 19: 46,307,984 (GRCm39) T675A probably benign Het
Rnf215 G T 11: 4,090,305 (GRCm39) R341L probably damaging Het
Ryr3 A G 2: 112,732,921 (GRCm39) probably null Het
Sh2d7 C A 9: 54,448,105 (GRCm39) T42N probably benign Het
Sh3glb2 C T 2: 30,236,368 (GRCm39) G279D probably benign Het
Slc25a46 A G 18: 31,738,868 (GRCm39) probably benign Het
Snx17 T C 5: 31,354,390 (GRCm39) S167P probably damaging Het
Snx19 A G 9: 30,343,556 (GRCm39) N572S possibly damaging Het
Sptbn4 G A 7: 27,067,104 (GRCm39) R1937C probably damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Srsf11 T C 3: 157,722,068 (GRCm39) probably benign Het
Taar7b A T 10: 23,876,581 (GRCm39) M249L probably benign Het
Tle6 G A 10: 81,435,898 (GRCm39) Q6* probably null Het
Twnk G T 19: 44,996,557 (GRCm39) R330L probably damaging Het
Unc13a C A 8: 72,108,949 (GRCm39) probably benign Het
Vmn2r107 A G 17: 20,577,006 (GRCm39) T335A possibly damaging Het
Wdtc1 A T 4: 133,024,789 (GRCm39) S469R possibly damaging Het
Ypel1 A G 16: 16,921,466 (GRCm39) Y73H probably benign Het
Zfp382 A T 7: 29,833,162 (GRCm39) Y271F probably benign Het
Other mutations in Plekhm3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01603:Plekhm3 APN 1 64,960,991 (GRCm39) missense probably damaging 1.00
IGL01732:Plekhm3 APN 1 64,961,407 (GRCm39) missense probably benign 0.44
IGL02422:Plekhm3 APN 1 64,961,025 (GRCm39) nonsense probably null
IGL03226:Plekhm3 APN 1 64,960,959 (GRCm39) missense possibly damaging 0.58
IGL03250:Plekhm3 APN 1 64,977,206 (GRCm39) missense possibly damaging 0.65
R0124:Plekhm3 UTSW 1 64,960,910 (GRCm39) missense probably damaging 0.99
R1336:Plekhm3 UTSW 1 64,976,940 (GRCm39) small deletion probably benign
R1467:Plekhm3 UTSW 1 64,932,041 (GRCm39) missense probably damaging 1.00
R1467:Plekhm3 UTSW 1 64,932,041 (GRCm39) missense probably damaging 1.00
R1560:Plekhm3 UTSW 1 64,976,976 (GRCm39) missense probably benign 0.03
R1901:Plekhm3 UTSW 1 64,976,940 (GRCm39) small deletion probably benign
R2328:Plekhm3 UTSW 1 64,976,940 (GRCm39) small deletion probably benign
R2432:Plekhm3 UTSW 1 64,977,015 (GRCm39) missense probably damaging 1.00
R2568:Plekhm3 UTSW 1 64,976,940 (GRCm39) small deletion probably benign
R3023:Plekhm3 UTSW 1 64,976,940 (GRCm39) small deletion probably benign
R4496:Plekhm3 UTSW 1 64,900,395 (GRCm39) missense probably damaging 1.00
R4529:Plekhm3 UTSW 1 64,976,984 (GRCm39) missense probably benign 0.14
R4682:Plekhm3 UTSW 1 64,977,086 (GRCm39) missense possibly damaging 0.94
R4969:Plekhm3 UTSW 1 64,977,078 (GRCm39) missense probably damaging 1.00
R5347:Plekhm3 UTSW 1 64,859,149 (GRCm39) missense probably damaging 1.00
R5553:Plekhm3 UTSW 1 64,961,045 (GRCm39) missense possibly damaging 0.89
R5583:Plekhm3 UTSW 1 64,977,145 (GRCm39) nonsense probably null
R5953:Plekhm3 UTSW 1 64,977,054 (GRCm39) missense probably damaging 0.98
R6319:Plekhm3 UTSW 1 64,961,093 (GRCm39) missense probably benign 0.20
R6970:Plekhm3 UTSW 1 64,931,912 (GRCm39) missense possibly damaging 0.80
R7014:Plekhm3 UTSW 1 64,922,429 (GRCm39) missense probably damaging 1.00
R7408:Plekhm3 UTSW 1 64,977,143 (GRCm39) missense probably benign 0.02
R7570:Plekhm3 UTSW 1 64,977,065 (GRCm39) missense probably damaging 1.00
R7663:Plekhm3 UTSW 1 64,922,367 (GRCm39) missense probably damaging 0.98
R7719:Plekhm3 UTSW 1 64,960,901 (GRCm39) missense probably benign 0.33
R7894:Plekhm3 UTSW 1 64,960,874 (GRCm39) missense probably benign
R8808:Plekhm3 UTSW 1 64,922,355 (GRCm39) missense possibly damaging 0.96
R9069:Plekhm3 UTSW 1 64,960,802 (GRCm39) missense probably benign 0.02
R9296:Plekhm3 UTSW 1 64,961,639 (GRCm39) missense probably benign 0.11
R9788:Plekhm3 UTSW 1 64,961,422 (GRCm39) missense possibly damaging 0.80
Posted On 2015-04-16