Incidental Mutation 'IGL02903:Cmtr2'
ID363687
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cmtr2
Ensembl Gene ENSMUSG00000046441
Gene Namecap methyltransferase 2
SynonymsFtsjd1, C730036L12Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02903
Quality Score
Status
Chromosome8
Chromosomal Location110215665-110224486 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 110222878 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 607 (T607A)
Ref Sequence ENSEMBL: ENSMUSP00000060558 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056972] [ENSMUST00000189685]
Predicted Effect probably benign
Transcript: ENSMUST00000056972
AA Change: T607A

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000060558
Gene: ENSMUSG00000046441
AA Change: T607A

DomainStartEndE-ValueType
Pfam:FtsJ 110 320 1.7e-28 PFAM
low complexity region 550 559 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000189685
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik G T 15: 8,269,778 R3150M unknown Het
2410089E03Rik G T 15: 8,269,779 R3150S unknown Het
4931417E11Rik A G 6: 73,469,120 Y149H probably damaging Het
Alox5 T G 6: 116,420,335 N296T probably damaging Het
Anks6 C T 4: 47,045,004 E301K probably damaging Het
Astn1 A G 1: 158,688,550 S1237G probably damaging Het
Atf6 G A 1: 170,799,714 P394S probably benign Het
Atp4a G A 7: 30,715,919 M321I probably benign Het
C4bp G A 1: 130,655,985 T82I probably damaging Het
Cask A T X: 13,552,447 probably benign Het
Cenpf A T 1: 189,646,876 S2906T probably damaging Het
Cfl1 T C 19: 5,492,800 F103L probably benign Het
Chrnb3 A T 8: 27,386,806 T83S probably damaging Het
Cts7 A T 13: 61,356,626 probably benign Het
Dgkz A T 2: 91,939,962 Y514N possibly damaging Het
Dmrtc1b T A X: 102,713,567 L206Q probably benign Het
Dus3l C T 17: 56,768,363 L397F probably damaging Het
Fam159b T A 13: 104,863,610 Y35F probably benign Het
Gm13089 A T 4: 143,699,166 M69K probably benign Het
Gm6356 C T 14: 6,973,735 G27E probably damaging Het
Hkdc1 C T 10: 62,400,191 probably null Het
Kcmf1 A T 6: 72,858,883 V21E possibly damaging Het
Kcnh4 T A 11: 100,757,654 T75S possibly damaging Het
Lemd2 A G 17: 27,193,210 probably benign Het
Magee1 G T X: 105,123,339 R910L probably damaging Het
Mcm3ap T C 10: 76,471,258 probably benign Het
Mfsd4b3 T A 10: 39,947,643 E207V possibly damaging Het
Olfr1354 A G 10: 78,917,416 D192G probably damaging Het
Olfr697 A G 7: 106,741,710 S75P probably damaging Het
Pappa T C 4: 65,261,980 V1026A probably damaging Het
Paxip1 A G 5: 27,748,872 L942P probably damaging Het
Ppp1r12b A T 1: 134,955,649 L45Q probably benign Het
Ptprq T C 10: 107,666,586 T824A possibly damaging Het
Rfwd3 T C 8: 111,278,229 T574A probably benign Het
Rsbn1 T C 3: 103,928,569 S308P probably damaging Het
Smr2 A T 5: 88,108,630 I56F probably benign Het
Wdfy4 C T 14: 33,109,650 R873H probably damaging Het
Other mutations in Cmtr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00818:Cmtr2 APN 8 110223100 missense probably benign 0.02
IGL01068:Cmtr2 APN 8 110222869 missense possibly damaging 0.65
IGL01286:Cmtr2 APN 8 110222852 missense possibly damaging 0.95
IGL01916:Cmtr2 APN 8 110221948 missense probably benign 0.01
IGL02302:Cmtr2 APN 8 110221504 missense probably damaging 1.00
IGL02426:Cmtr2 APN 8 110221690 missense possibly damaging 0.65
PIT4362001:Cmtr2 UTSW 8 110222336 missense probably damaging 0.99
R1435:Cmtr2 UTSW 8 110221079 missense probably benign
R1501:Cmtr2 UTSW 8 110221603 missense probably benign 0.29
R1512:Cmtr2 UTSW 8 110222635 missense probably damaging 0.99
R1709:Cmtr2 UTSW 8 110221949 missense probably benign 0.31
R1715:Cmtr2 UTSW 8 110222798 missense probably damaging 1.00
R1953:Cmtr2 UTSW 8 110221919 missense probably damaging 1.00
R1960:Cmtr2 UTSW 8 110221750 missense probably damaging 1.00
R2422:Cmtr2 UTSW 8 110222781 missense probably benign 0.02
R3717:Cmtr2 UTSW 8 110221754 missense probably damaging 0.96
R4043:Cmtr2 UTSW 8 110221830 nonsense probably null
R4074:Cmtr2 UTSW 8 110221217 missense possibly damaging 0.83
R4179:Cmtr2 UTSW 8 110221037 splice site probably null
R4457:Cmtr2 UTSW 8 110222252 missense probably benign 0.02
R4945:Cmtr2 UTSW 8 110221433 missense probably damaging 0.99
R5371:Cmtr2 UTSW 8 110221412 missense probably damaging 1.00
R6753:Cmtr2 UTSW 8 110222979 missense probably damaging 1.00
R7231:Cmtr2 UTSW 8 110222546 missense probably benign 0.02
R7527:Cmtr2 UTSW 8 110222138 missense probably damaging 1.00
R7580:Cmtr2 UTSW 8 110221677 missense probably damaging 0.99
R7808:Cmtr2 UTSW 8 110221619 missense possibly damaging 0.88
R8510:Cmtr2 UTSW 8 110222435 missense possibly damaging 0.53
R8690:Cmtr2 UTSW 8 110222345 missense probably benign 0.00
Z1177:Cmtr2 UTSW 8 110221499 frame shift probably null
Posted On2015-12-18