Incidental Mutation 'IGL03376:Cmtr1'
ID 420484
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cmtr1
Ensembl Gene ENSMUSG00000024019
Gene Name cap methyltransferase 1
Synonyms Ftsjd2, 1300018I05Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.966) question?
Stock # IGL03376
Quality Score
Status
Chromosome 17
Chromosomal Location 29660595-29705979 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 29691411 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 497 (R497C)
Ref Sequence ENSEMBL: ENSMUSP00000024816 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024816] [ENSMUST00000130871] [ENSMUST00000137079]
AlphaFold Q9DBC3
Predicted Effect probably benign
Transcript: ENSMUST00000024816
AA Change: R497C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000024816
Gene: ENSMUSG00000024019
AA Change: R497C

DomainStartEndE-ValueType
G_patch 84 130 1.93e-10 SMART
Pfam:FtsJ 231 448 9.5e-42 PFAM
SCOP:d1ckma2 625 718 4e-3 SMART
WW 752 785 2.05e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128410
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130052
Predicted Effect probably benign
Transcript: ENSMUST00000130871
SMART Domains Protein: ENSMUSP00000117838
Gene: ENSMUSG00000098374

DomainStartEndE-ValueType
FHA 37 92 5.55e-8 SMART
low complexity region 116 130 N/A INTRINSIC
low complexity region 299 317 N/A INTRINSIC
RING 406 443 3.64e-7 SMART
G_patch 524 570 1.93e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000137079
SMART Domains Protein: ENSMUSP00000115603
Gene: ENSMUSG00000024018

DomainStartEndE-ValueType
Pfam:CCDC-167 9 53 1.1e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138939
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172516
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172610
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp6v1b2 T C 8: 69,102,159 probably benign Het
Ccdc122 A G 14: 77,068,912 E41G probably damaging Het
Cdh3 C T 8: 106,541,404 T357I probably benign Het
Cfap57 T A 4: 118,584,720 Q717L probably damaging Het
Cfap58 A T 19: 48,034,725 T859S possibly damaging Het
Csmd2 T C 4: 128,517,671 I2494T probably benign Het
Dmkn C T 7: 30,771,242 T385I possibly damaging Het
Eml3 A G 19: 8,933,790 D260G probably damaging Het
Gbf1 T C 19: 46,262,521 F493L possibly damaging Het
Gjb5 C T 4: 127,356,255 R32H probably damaging Het
Hpx C T 7: 105,592,251 probably benign Het
Ikzf3 T A 11: 98,488,953 H163L probably damaging Het
Irak3 G A 10: 120,146,636 probably benign Het
Itih5 G A 2: 10,206,773 V275I probably benign Het
Klc1 G T 12: 111,775,953 E174D probably damaging Het
Ly6g6e A G 17: 35,078,232 *108W probably null Het
Mcph1 T C 8: 18,596,973 S31P probably damaging Het
Mettl4 A T 17: 94,735,371 S346T probably damaging Het
Myo3a A T 2: 22,600,074 probably benign Het
Olfr703 T A 7: 106,845,470 N286K probably damaging Het
Otol1 A G 3: 70,027,512 E279G probably damaging Het
Pappa T A 4: 65,196,834 N722K probably benign Het
Pramel7 A G 2: 87,489,603 S449P probably damaging Het
Rassf9 A G 10: 102,545,198 N145S probably damaging Het
Robo2 T C 16: 73,956,492 I158M probably damaging Het
Sbf1 A G 15: 89,289,016 probably benign Het
Slc30a8 C T 15: 52,306,457 R27* probably null Het
Tmco2 T A 4: 121,109,052 T36S probably benign Het
Tns4 T C 11: 99,078,556 S360G probably benign Het
Vwa8 A G 14: 79,183,134 probably null Het
Wwc1 C T 11: 35,852,294 R900Q possibly damaging Het
Zzef1 T C 11: 72,876,551 probably benign Het
Other mutations in Cmtr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00391:Cmtr1 APN 17 29674262 missense probably damaging 0.99
IGL00980:Cmtr1 APN 17 29691284 missense probably benign 0.00
IGL00987:Cmtr1 APN 17 29697169 missense probably benign 0.01
IGL01413:Cmtr1 APN 17 29697982 missense probably benign 0.00
IGL01481:Cmtr1 APN 17 29698657 missense probably benign 0.02
IGL02281:Cmtr1 APN 17 29691281 missense probably benign 0.00
IGL03079:Cmtr1 APN 17 29663293 missense possibly damaging 0.71
PIT4403001:Cmtr1 UTSW 17 29698073 critical splice donor site probably null
R0256:Cmtr1 UTSW 17 29697124 missense probably damaging 1.00
R0505:Cmtr1 UTSW 17 29676285 missense probably benign 0.17
R1477:Cmtr1 UTSW 17 29697157 missense possibly damaging 0.63
R1623:Cmtr1 UTSW 17 29687047 splice site probably null
R1852:Cmtr1 UTSW 17 29702255 missense probably benign 0.32
R1867:Cmtr1 UTSW 17 29674174 missense probably benign 0.36
R1918:Cmtr1 UTSW 17 29679009 missense possibly damaging 0.63
R2070:Cmtr1 UTSW 17 29694783 critical splice acceptor site probably null
R2071:Cmtr1 UTSW 17 29694783 critical splice acceptor site probably null
R2161:Cmtr1 UTSW 17 29702173 missense probably benign 0.03
R2518:Cmtr1 UTSW 17 29681980 nonsense probably null
R2763:Cmtr1 UTSW 17 29680628 missense possibly damaging 0.89
R4077:Cmtr1 UTSW 17 29685975 missense probably damaging 1.00
R4271:Cmtr1 UTSW 17 29697982 missense probably benign 0.00
R4363:Cmtr1 UTSW 17 29674232 missense probably damaging 1.00
R4723:Cmtr1 UTSW 17 29687157 splice site probably null
R4736:Cmtr1 UTSW 17 29700242 missense possibly damaging 0.94
R5056:Cmtr1 UTSW 17 29690328 missense possibly damaging 0.64
R5492:Cmtr1 UTSW 17 29690342 missense probably damaging 1.00
R5704:Cmtr1 UTSW 17 29663243 missense possibly damaging 0.95
R5990:Cmtr1 UTSW 17 29702161 missense probably benign
R6050:Cmtr1 UTSW 17 29682134 missense probably damaging 1.00
R6117:Cmtr1 UTSW 17 29682165 missense probably benign 0.43
R6238:Cmtr1 UTSW 17 29682148 missense probably damaging 1.00
R7199:Cmtr1 UTSW 17 29676200 missense probably benign
R7229:Cmtr1 UTSW 17 29695424 critical splice acceptor site probably null
R8337:Cmtr1 UTSW 17 29674177 missense probably benign 0.25
Posted On 2016-08-02