Incidental Mutation 'IGL02205:Mepce'
ID284446
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mepce
Ensembl Gene ENSMUSG00000029726
Gene Namemethylphosphate capping enzyme
SynonymsBcdin3, D5Wsu46e
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02205
Quality Score
Status
Chromosome5
Chromosomal Location137781906-137787655 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 137784495 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Lysine at position 523 (T523K)
Ref Sequence ENSEMBL: ENSMUSP00000031740 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031739] [ENSMUST00000031740] [ENSMUST00000035852] [ENSMUST00000196022] [ENSMUST00000198929]
Predicted Effect probably benign
Transcript: ENSMUST00000031739
SMART Domains Protein: ENSMUSP00000031739
Gene: ENSMUSG00000029725

DomainStartEndE-ValueType
low complexity region 13 54 N/A INTRINSIC
low complexity region 57 76 N/A INTRINSIC
Pfam:PPP1R35_C 107 255 1.5e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000031740
AA Change: T523K

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000031740
Gene: ENSMUSG00000029726
AA Change: T523K

DomainStartEndE-ValueType
low complexity region 14 19 N/A INTRINSIC
low complexity region 49 74 N/A INTRINSIC
low complexity region 115 121 N/A INTRINSIC
low complexity region 130 136 N/A INTRINSIC
low complexity region 234 254 N/A INTRINSIC
low complexity region 307 352 N/A INTRINSIC
low complexity region 355 376 N/A INTRINSIC
Pfam:Methyltransf_23 398 623 2.7e-14 PFAM
Pfam:PrmA 408 489 6.9e-6 PFAM
Pfam:Methyltransf_31 419 480 9.3e-9 PFAM
Pfam:Methyltransf_18 420 595 1.8e-13 PFAM
Pfam:Bin3 552 660 4.2e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000035852
SMART Domains Protein: ENSMUSP00000048730
Gene: ENSMUSG00000037108

DomainStartEndE-ValueType
Pfam:zf-CW 246 293 7.3e-18 PFAM
Pfam:PWWP 306 401 6.9e-22 PFAM
coiled coil region 440 462 N/A INTRINSIC
low complexity region 587 598 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000126126
SMART Domains Protein: ENSMUSP00000114480
Gene: ENSMUSG00000029725

DomainStartEndE-ValueType
Pfam:PPP1R35_C 48 144 2.5e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000132726
SMART Domains Protein: ENSMUSP00000118688
Gene: ENSMUSG00000029726

DomainStartEndE-ValueType
Pfam:Methyltransf_11 33 99 8e-6 PFAM
Pfam:Bin3 59 167 8.3e-47 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140336
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152298
Predicted Effect probably benign
Transcript: ENSMUST00000196022
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196936
Predicted Effect probably benign
Transcript: ENSMUST00000198929
SMART Domains Protein: ENSMUSP00000143182
Gene: ENSMUSG00000029725

DomainStartEndE-ValueType
low complexity region 66 77 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afmid T G 11: 117,835,156 L150R probably damaging Het
Ankrd27 T G 7: 35,616,939 D543E probably damaging Het
Anks1b T G 10: 90,071,094 L258V probably benign Het
Cacna1i T C 15: 80,372,951 F1087S probably benign Het
Chd2 A T 7: 73,441,717 I1592K probably benign Het
Cmip G A 8: 117,454,975 V674I probably damaging Het
Col4a2 C T 8: 11,431,305 Q826* probably null Het
Ctdsp1 C T 1: 74,393,834 A92V possibly damaging Het
Dnajc10 T A 2: 80,349,358 S745R possibly damaging Het
Dpp4 T C 2: 62,352,257 Y560C probably damaging Het
Fbxl6 A G 15: 76,537,341 M232T probably benign Het
Gm5414 A G 15: 101,625,869 F267L probably benign Het
Heatr5a A G 12: 51,877,337 I2031T probably damaging Het
Hmcn2 T G 2: 31,400,127 V2324G probably damaging Het
Hnmt A T 2: 24,019,145 N85K probably damaging Het
Kcng4 G T 8: 119,626,083 R363S probably damaging Het
Kif18a T C 2: 109,307,018 probably benign Het
Lrrc8b A T 5: 105,481,837 Y683F probably benign Het
Mroh1 T C 15: 76,437,239 V1040A possibly damaging Het
Myof A G 19: 37,924,635 Y1470H probably damaging Het
Olfr469 A G 7: 107,822,591 Y293H probably damaging Het
Otol1 T C 3: 70,018,596 S35P probably benign Het
P4htm T C 9: 108,581,962 D257G probably benign Het
Pcdhb15 A G 18: 37,473,957 T81A probably damaging Het
Polg2 T C 11: 106,779,120 E108G probably benign Het
Rfx7 T A 9: 72,607,650 H143Q probably damaging Het
Sf3b2 A G 19: 5,283,737 V611A probably benign Het
Slc10a7 G T 8: 78,697,303 K203N probably benign Het
Slc12a5 T A 2: 164,996,479 V1046D probably benign Het
Tacc2 A T 7: 130,626,682 D1718V probably damaging Het
Unc79 T A 12: 103,079,001 I812N probably damaging Het
Vps13c A G 9: 67,883,454 Y338C probably damaging Het
Wdr17 T C 8: 54,696,300 Y31C probably damaging Het
Zfp654 A T 16: 64,785,966 N624K probably damaging Het
Other mutations in Mepce
AlleleSourceChrCoordTypePredicted EffectPPH Score
Baden-powell UTSW 5 137785436 missense possibly damaging 0.70
Rushmore UTSW 5 137783260 missense probably damaging 0.98
R0254:Mepce UTSW 5 137785436 missense possibly damaging 0.70
R0772:Mepce UTSW 5 137785312 intron probably benign
R1081:Mepce UTSW 5 137784696 missense probably damaging 1.00
R4588:Mepce UTSW 5 137785272 missense possibly damaging 0.86
R4671:Mepce UTSW 5 137786643 intron probably benign
R4879:Mepce UTSW 5 137785282 intron probably benign
R5315:Mepce UTSW 5 137782693 missense probably damaging 1.00
R5334:Mepce UTSW 5 137786627 missense probably benign 0.00
R5341:Mepce UTSW 5 137783260 missense probably damaging 0.98
R5905:Mepce UTSW 5 137784720 missense possibly damaging 0.78
R6339:Mepce UTSW 5 137785688 missense possibly damaging 0.72
R6348:Mepce UTSW 5 137785436 missense possibly damaging 0.70
R6630:Mepce UTSW 5 137784921 missense probably benign 0.01
R7056:Mepce UTSW 5 137782706 missense probably damaging 1.00
R8054:Mepce UTSW 5 137784742 nonsense probably null
R8152:Mepce UTSW 5 137784673 missense probably benign 0.03
R8390:Mepce UTSW 5 137785179 missense possibly damaging 0.96
Z1176:Mepce UTSW 5 137785842 missense probably damaging 1.00
Posted On2015-04-16