Incidental Mutation 'IGL02903:Cmtr2'
ID 363687
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cmtr2
Ensembl Gene ENSMUSG00000046441
Gene Name cap methyltransferase 2
Synonyms Ftsjd1, C730036L12Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02903
Quality Score
Status
Chromosome 8
Chromosomal Location 110942297-110951118 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 110949510 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q8BWQ4
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
Alox5 T G 6: 116,397,296 (GRCm39) N296T probably damaging Het
Anks6 C T 4: 47,045,004 (GRCm39) E301K probably damaging Het
Astn1 A G 1: 158,516,120 (GRCm39) S1237G probably damaging Het
Atf6 G A 1: 170,627,283 (GRCm39) P394S probably benign Het
Atp4a G A 7: 30,415,344 (GRCm39) M321I probably benign Het
C4bp G A 1: 130,583,722 (GRCm39) T82I probably damaging Het
Cask A T X: 13,418,686 (GRCm39) probably benign Het
Cenpf A T 1: 189,379,073 (GRCm39) S2906T probably damaging Het
Cfl1 T C 19: 5,542,828 (GRCm39) F103L probably benign Het
Chrnb3 A T 8: 27,876,834 (GRCm39) T83S probably damaging Het
Cplane1 G T 15: 8,299,262 (GRCm39) R3150M unknown Het
Cplane1 G T 15: 8,299,263 (GRCm39) R3150S unknown Het
Cts7 A T 13: 61,504,440 (GRCm39) probably benign Het
Dgkz A T 2: 91,770,307 (GRCm39) Y514N possibly damaging Het
Dmrtc1b T A X: 101,757,173 (GRCm39) L206Q probably benign Het
Dus3l C T 17: 57,075,363 (GRCm39) L397F probably damaging Het
Gm6356 C T 14: 6,973,735 (GRCm38) G27E probably damaging Het
Hkdc1 C T 10: 62,235,970 (GRCm39) probably null Het
Jkampl A G 6: 73,446,103 (GRCm39) Y149H probably damaging Het
Kcmf1 A T 6: 72,835,866 (GRCm39) V21E possibly damaging Het
Kcnh4 T A 11: 100,648,480 (GRCm39) T75S possibly damaging Het
Lemd2 A G 17: 27,412,184 (GRCm39) probably benign Het
Magee1 G T X: 104,166,945 (GRCm39) R910L probably damaging Het
Mcm3ap T C 10: 76,307,092 (GRCm39) probably benign Het
Mfsd4b3-ps T A 10: 39,823,639 (GRCm39) E207V possibly damaging Het
Or2ag15 A G 7: 106,340,917 (GRCm39) S75P probably damaging Het
Or7a38 A G 10: 78,753,250 (GRCm39) D192G probably damaging Het
Pappa T C 4: 65,180,217 (GRCm39) V1026A probably damaging Het
Paxip1 A G 5: 27,953,870 (GRCm39) L942P probably damaging Het
Ppp1r12b A T 1: 134,883,387 (GRCm39) L45Q probably benign Het
Pramel23 A T 4: 143,425,736 (GRCm39) M69K probably benign Het
Ptprq T C 10: 107,502,447 (GRCm39) T824A possibly damaging Het
Rfwd3 T C 8: 112,004,861 (GRCm39) T574A probably benign Het
Rsbn1 T C 3: 103,835,885 (GRCm39) S308P probably damaging Het
Shisal2b T A 13: 105,000,118 (GRCm39) Y35F probably benign Het
Smr2 A T 5: 88,256,489 (GRCm39) I56F probably benign Het
Wdfy4 C T 14: 32,831,607 (GRCm39) R873H probably damaging Het
Other mutations in Cmtr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00818:Cmtr2 APN 8 110,949,732 (GRCm39) missense probably benign 0.02
IGL01068:Cmtr2 APN 8 110,949,501 (GRCm39) missense possibly damaging 0.65
IGL01286:Cmtr2 APN 8 110,949,484 (GRCm39) missense possibly damaging 0.95
IGL01916:Cmtr2 APN 8 110,948,580 (GRCm39) missense probably benign 0.01
IGL02302:Cmtr2 APN 8 110,948,136 (GRCm39) missense probably damaging 1.00
IGL02426:Cmtr2 APN 8 110,948,322 (GRCm39) missense possibly damaging 0.65
PIT4362001:Cmtr2 UTSW 8 110,948,968 (GRCm39) missense probably damaging 0.99
R1435:Cmtr2 UTSW 8 110,947,711 (GRCm39) missense probably benign
R1501:Cmtr2 UTSW 8 110,948,235 (GRCm39) missense probably benign 0.29
R1512:Cmtr2 UTSW 8 110,949,267 (GRCm39) missense probably damaging 0.99
R1709:Cmtr2 UTSW 8 110,948,581 (GRCm39) missense probably benign 0.31
R1715:Cmtr2 UTSW 8 110,949,430 (GRCm39) missense probably damaging 1.00
R1953:Cmtr2 UTSW 8 110,948,551 (GRCm39) missense probably damaging 1.00
R1960:Cmtr2 UTSW 8 110,948,382 (GRCm39) missense probably damaging 1.00
R2422:Cmtr2 UTSW 8 110,949,413 (GRCm39) missense probably benign 0.02
R3717:Cmtr2 UTSW 8 110,948,386 (GRCm39) missense probably damaging 0.96
R4043:Cmtr2 UTSW 8 110,948,462 (GRCm39) nonsense probably null
R4074:Cmtr2 UTSW 8 110,947,849 (GRCm39) missense possibly damaging 0.83
R4179:Cmtr2 UTSW 8 110,947,669 (GRCm39) splice site probably null
R4457:Cmtr2 UTSW 8 110,948,884 (GRCm39) missense probably benign 0.02
R4945:Cmtr2 UTSW 8 110,948,065 (GRCm39) missense probably damaging 0.99
R5371:Cmtr2 UTSW 8 110,948,044 (GRCm39) missense probably damaging 1.00
R6753:Cmtr2 UTSW 8 110,949,611 (GRCm39) missense probably damaging 1.00
R7231:Cmtr2 UTSW 8 110,949,178 (GRCm39) missense probably benign 0.02
R7527:Cmtr2 UTSW 8 110,948,770 (GRCm39) missense probably damaging 1.00
R7580:Cmtr2 UTSW 8 110,948,309 (GRCm39) missense probably damaging 0.99
R7808:Cmtr2 UTSW 8 110,948,251 (GRCm39) missense possibly damaging 0.88
R8510:Cmtr2 UTSW 8 110,949,067 (GRCm39) missense possibly damaging 0.53
R8690:Cmtr2 UTSW 8 110,948,977 (GRCm39) missense probably benign 0.00
R9172:Cmtr2 UTSW 8 110,948,761 (GRCm39) missense probably damaging 1.00
R9282:Cmtr2 UTSW 8 110,948,977 (GRCm39) missense probably benign
R9307:Cmtr2 UTSW 8 110,949,712 (GRCm39) missense probably benign 0.06
R9342:Cmtr2 UTSW 8 110,949,078 (GRCm39) missense possibly damaging 0.92
Z1177:Cmtr2 UTSW 8 110,948,131 (GRCm39) frame shift probably null
Posted On 2015-12-18