Incidental Mutation 'IGL01481:Cmtr1'
ID 88591
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cmtr1
Ensembl Gene ENSMUSG00000024019
Gene Name cap methyltransferase 1
Synonyms 1300018I05Rik, Ftsjd2
Accession Numbers
Essential gene? Probably essential (E-score: 0.970) question?
Stock # IGL01481
Quality Score
Status
Chromosome 17
Chromosomal Location 29879569-29924953 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 29917631 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Serine at position 654 (I654S)
Ref Sequence ENSEMBL: ENSMUSP00000024816 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024816] [ENSMUST00000123502] [ENSMUST00000128751] [ENSMUST00000129091] [ENSMUST00000130871] [ENSMUST00000131807] [ENSMUST00000137079]
AlphaFold Q9DBC3
Predicted Effect probably benign
Transcript: ENSMUST00000024816
AA Change: I654S

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000024816
Gene: ENSMUSG00000024019
AA Change: I654S

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 probably benign
Transcript: ENSMUST00000123502
SMART Domains Protein: ENSMUSP00000119013
Gene: ENSMUSG00000024018

DomainStartEndE-ValueType
Pfam:CCDC-167 9 92 7.6e-34 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128751
SMART Domains Protein: ENSMUSP00000123612
Gene: ENSMUSG00000024018

DomainStartEndE-ValueType
Pfam:CCDC-167 9 93 2.4e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000129091
SMART Domains Protein: ENSMUSP00000116591
Gene: ENSMUSG00000024018

DomainStartEndE-ValueType
Pfam:CCDC-167 10 93 3.1e-36 PFAM
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: ENSMUST00000131807
SMART Domains Protein: ENSMUSP00000120238
Gene: ENSMUSG00000024018

DomainStartEndE-ValueType
Pfam:CCDC-167 5 49 2.1e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138939
Predicted Effect probably benign
Transcript: ENSMUST00000137079
SMART Domains Protein: ENSMUSP00000115603
Gene: ENSMUSG00000024018

DomainStartEndE-ValueType
Pfam:CCDC-167 9 53 1.1e-16 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik A T 6: 91,910,079 (GRCm39) S523C probably damaging Het
Apaf1 A T 10: 90,867,450 (GRCm39) D798E possibly damaging Het
Arhgef7 G T 8: 11,865,256 (GRCm39) V410L probably benign Het
Capn7 T C 14: 31,077,296 (GRCm39) L338P probably damaging Het
Cldn17 A G 16: 88,303,471 (GRCm39) V86A probably benign Het
Clec4a2 A G 6: 123,119,459 (GRCm39) N237S probably benign Het
Cryzl2 G A 1: 157,298,309 (GRCm39) probably null Het
Ctif A G 18: 75,744,855 (GRCm39) probably benign Het
Dcaf7 T A 11: 105,945,572 (GRCm39) I307N probably damaging Het
Drosha A T 15: 12,842,525 (GRCm39) T399S probably benign Het
Eef2k A T 7: 120,494,441 (GRCm39) Y35F probably benign Het
Emc1 T C 4: 139,089,410 (GRCm39) S193P probably benign Het
Fpr2 T C 17: 18,113,025 (GRCm39) I7T probably benign Het
Fras1 C A 5: 96,805,100 (GRCm39) N1247K probably damaging Het
Gipr T C 7: 18,893,431 (GRCm39) probably benign Het
Heatr5a C T 12: 52,002,208 (GRCm39) G243S probably damaging Het
Hivep2 G A 10: 14,024,981 (GRCm39) R2265Q probably benign Het
Iars1 T C 13: 49,882,174 (GRCm39) S1073P probably benign Het
Inpp4b T C 8: 82,724,009 (GRCm39) S514P probably damaging Het
Inpp5b T A 4: 124,694,492 (GRCm39) probably null Het
Itga2 C T 13: 114,996,168 (GRCm39) V708I possibly damaging Het
Itih5 A C 2: 10,195,100 (GRCm39) Q164P probably damaging Het
Map3k19 T A 1: 127,750,215 (GRCm39) E1045D probably damaging Het
Mbd5 T C 2: 49,168,951 (GRCm39) V1374A possibly damaging Het
Mrps34 T C 17: 25,116,310 (GRCm39) probably benign Het
Nadsyn1 T C 7: 143,366,321 (GRCm39) D191G probably damaging Het
Nlrc3 T G 16: 3,781,769 (GRCm39) N563H probably damaging Het
Nlrp4c T C 7: 6,103,783 (GRCm39) C906R possibly damaging Het
Or10g6 T C 9: 39,934,574 (GRCm39) M295T possibly damaging Het
Or1j15 T A 2: 36,458,754 (GRCm39) L48H probably damaging Het
Or4a79 A G 2: 89,551,870 (GRCm39) L195P probably damaging Het
Or52u1 C A 7: 104,237,067 (GRCm39) P36T probably damaging Het
Pdgfd C A 9: 6,337,271 (GRCm39) T195K probably null Het
Ptprz1 C A 6: 22,999,979 (GRCm39) Q690K probably benign Het
Scfd1 T A 12: 51,430,903 (GRCm39) M23K probably damaging Het
Scn10a G A 9: 119,438,260 (GRCm39) R1869C probably damaging Het
Scp2 T C 4: 107,931,639 (GRCm39) probably null Het
Sec61a1 A G 6: 88,483,829 (GRCm39) V354A probably benign Het
Sgpp1 T C 12: 75,769,431 (GRCm39) I246V probably benign Het
Slco2a1 G T 9: 102,947,450 (GRCm39) D250Y probably damaging Het
Slit2 A G 5: 48,460,273 (GRCm39) N1435D probably benign Het
Sspo A G 6: 48,425,449 (GRCm39) I23M probably benign Het
Steap4 A T 5: 8,026,858 (GRCm39) T274S probably damaging Het
Tbc1d22b T C 17: 29,787,572 (GRCm39) L107P possibly damaging Het
Tiparp G T 3: 65,460,030 (GRCm39) G442* probably null Het
Tmem45a2 T A 16: 56,867,375 (GRCm39) I109F probably benign Het
Top2a A T 11: 98,901,856 (GRCm39) L458Q probably damaging Het
Tox T A 4: 6,842,396 (GRCm39) T45S probably damaging Het
Vmn2r4 A T 3: 64,313,816 (GRCm39) N388K probably damaging Het
Wdr7 G A 18: 63,872,250 (GRCm39) D395N probably damaging Het
Other mutations in Cmtr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00391:Cmtr1 APN 17 29,893,236 (GRCm39) missense probably damaging 0.99
IGL00980:Cmtr1 APN 17 29,910,258 (GRCm39) missense probably benign 0.00
IGL00987:Cmtr1 APN 17 29,916,143 (GRCm39) missense probably benign 0.01
IGL01413:Cmtr1 APN 17 29,916,956 (GRCm39) missense probably benign 0.00
IGL02281:Cmtr1 APN 17 29,910,255 (GRCm39) missense probably benign 0.00
IGL03079:Cmtr1 APN 17 29,882,267 (GRCm39) missense possibly damaging 0.71
IGL03376:Cmtr1 APN 17 29,910,385 (GRCm39) missense probably benign 0.00
PIT4403001:Cmtr1 UTSW 17 29,917,047 (GRCm39) critical splice donor site probably null
R0256:Cmtr1 UTSW 17 29,916,098 (GRCm39) missense probably damaging 1.00
R0505:Cmtr1 UTSW 17 29,895,259 (GRCm39) missense probably benign 0.17
R1477:Cmtr1 UTSW 17 29,916,131 (GRCm39) missense possibly damaging 0.63
R1623:Cmtr1 UTSW 17 29,906,021 (GRCm39) splice site probably null
R1852:Cmtr1 UTSW 17 29,921,229 (GRCm39) missense probably benign 0.32
R1867:Cmtr1 UTSW 17 29,893,148 (GRCm39) missense probably benign 0.36
R1918:Cmtr1 UTSW 17 29,897,983 (GRCm39) missense possibly damaging 0.63
R2070:Cmtr1 UTSW 17 29,913,757 (GRCm39) critical splice acceptor site probably null
R2071:Cmtr1 UTSW 17 29,913,757 (GRCm39) critical splice acceptor site probably null
R2161:Cmtr1 UTSW 17 29,921,147 (GRCm39) missense probably benign 0.03
R2518:Cmtr1 UTSW 17 29,900,954 (GRCm39) nonsense probably null
R2763:Cmtr1 UTSW 17 29,899,602 (GRCm39) missense possibly damaging 0.89
R4077:Cmtr1 UTSW 17 29,904,949 (GRCm39) missense probably damaging 1.00
R4271:Cmtr1 UTSW 17 29,916,956 (GRCm39) missense probably benign 0.00
R4363:Cmtr1 UTSW 17 29,893,206 (GRCm39) missense probably damaging 1.00
R4723:Cmtr1 UTSW 17 29,906,131 (GRCm39) splice site probably null
R4736:Cmtr1 UTSW 17 29,919,216 (GRCm39) missense possibly damaging 0.94
R5056:Cmtr1 UTSW 17 29,909,302 (GRCm39) missense possibly damaging 0.64
R5492:Cmtr1 UTSW 17 29,909,316 (GRCm39) missense probably damaging 1.00
R5704:Cmtr1 UTSW 17 29,882,217 (GRCm39) missense possibly damaging 0.95
R5990:Cmtr1 UTSW 17 29,921,135 (GRCm39) missense probably benign
R6050:Cmtr1 UTSW 17 29,901,108 (GRCm39) missense probably damaging 1.00
R6117:Cmtr1 UTSW 17 29,901,139 (GRCm39) missense probably benign 0.43
R6238:Cmtr1 UTSW 17 29,901,122 (GRCm39) missense probably damaging 1.00
R7199:Cmtr1 UTSW 17 29,895,174 (GRCm39) missense probably benign
R7229:Cmtr1 UTSW 17 29,914,398 (GRCm39) critical splice acceptor site probably null
R8337:Cmtr1 UTSW 17 29,893,151 (GRCm39) missense probably benign 0.25
R9538:Cmtr1 UTSW 17 29,882,282 (GRCm39) critical splice donor site probably null
R9607:Cmtr1 UTSW 17 29,893,196 (GRCm39) missense probably benign 0.01
Posted On 2013-11-18