Incidental Mutation 'IGL00987:Cmtr1'
ID29376
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cmtr1
Ensembl Gene ENSMUSG00000024019
Gene Namecap methyltransferase 1
SynonymsFtsjd2, 1300018I05Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.965) question?
Stock #IGL00987
Quality Score
Status
Chromosome17
Chromosomal Location29660595-29705979 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 29697169 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Histidine at position 591 (R591H)
Ref Sequence ENSEMBL: ENSMUSP00000024816 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024816] [ENSMUST00000123502] [ENSMUST00000129091] [ENSMUST00000130871] [ENSMUST00000131807] [ENSMUST00000137079]
Predicted Effect probably benign
Transcript: ENSMUST00000024816
AA Change: R591H

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000024816
Gene: ENSMUSG00000024019
AA Change: R591H

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: 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 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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot9 T C X: 155,295,181 I241T probably benign Het
Atp5g3 T A 2: 73,909,926 R19* probably null Het
Celf4 T C 18: 25,486,950 D420G probably damaging Het
Cideb C A 14: 55,754,560 R179L possibly damaging Het
Dync1li2 A T 8: 104,442,498 S34T possibly damaging Het
Eri2 A G 7: 119,791,166 Y80H probably damaging Het
Eya2 A G 2: 165,754,481 E304G probably damaging Het
Fam135a A C 1: 24,055,898 L130V probably damaging Het
Fancb A T X: 164,991,598 K410N probably damaging Het
Gabpb2 A C 3: 95,200,191 V191G probably damaging Het
Gfm1 A G 3: 67,438,560 H197R possibly damaging Het
Gm11595 A G 11: 99,772,539 V105A unknown Het
Hectd3 T A 4: 116,999,643 D462E probably damaging Het
Herc1 G T 9: 66,408,052 V1139L probably benign Het
Itgal T C 7: 127,302,011 F190L probably damaging Het
Krt87 G A 15: 101,438,446 H109Y probably benign Het
Lmf2 T C 15: 89,354,568 Y115C probably benign Het
Papolg T A 11: 23,876,377 Y259F possibly damaging Het
Parn T C 16: 13,667,603 I10V probably benign Het
Pdcd11 T A 19: 47,114,550 probably benign Het
Phldb2 T A 16: 45,763,102 Q1003L possibly damaging Het
Pigg T A 5: 108,342,078 F850I probably damaging Het
Pkp4 T C 2: 59,308,357 L317P probably damaging Het
Polr2a T C 11: 69,743,794 probably benign Het
Prdm16 G A 4: 154,341,969 T453M possibly damaging Het
Rnf144b A T 13: 47,207,493 E36D possibly damaging Het
Ryr2 G A 13: 11,735,502 T1961I probably damaging Het
Sash1 T A 10: 8,751,413 K305I probably damaging Het
Tbc1d7 A T 13: 43,159,321 I32N probably damaging Het
Thop1 T C 10: 81,081,695 F623L probably damaging Het
Thsd7b G A 1: 129,613,279 G297R probably damaging Het
Tln1 C A 4: 43,551,297 probably benign Het
Vmn1r183 A G 7: 24,055,224 N151D probably damaging 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
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
IGL03376:Cmtr1 APN 17 29691411 missense probably benign 0.00
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 unclassified 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
Posted On2013-04-17