Incidental Mutation 'IGL01336:Mettl27'
ID74647
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mettl27
Ensembl Gene ENSMUSG00000040557
Gene Namemethyltransferase like 27
SynonymsWbscr27
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.117) question?
Stock #IGL01336
Quality Score
Status
Chromosome5
Chromosomal Location134932368-134942637 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) C to T at 134935880 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000144170 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047196] [ENSMUST00000068617] [ENSMUST00000111218] [ENSMUST00000111219] [ENSMUST00000111221] [ENSMUST00000136246] [ENSMUST00000148286] [ENSMUST00000201847]
Predicted Effect probably benign
Transcript: ENSMUST00000047196
SMART Domains Protein: ENSMUSP00000039080
Gene: ENSMUSG00000040557

DomainStartEndE-ValueType
Pfam:Ubie_methyltran 29 188 1.4e-11 PFAM
Pfam:Methyltransf_23 45 217 4.9e-13 PFAM
Pfam:MetW 62 165 6.4e-8 PFAM
Pfam:Methyltransf_18 67 169 4.7e-14 PFAM
Pfam:Methyltransf_31 67 215 1.4e-12 PFAM
Pfam:Methyltransf_25 71 162 1.4e-10 PFAM
Pfam:Methyltransf_12 72 164 1.8e-10 PFAM
Pfam:Methyltransf_11 72 166 2.1e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000068617
SMART Domains Protein: ENSMUSP00000067814
Gene: ENSMUSG00000040557

DomainStartEndE-ValueType
Pfam:Methyltransf_23 46 185 9e-9 PFAM
Pfam:Methyltransf_18 67 164 3.8e-10 PFAM
Pfam:Methyltransf_11 72 148 9.6e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111218
SMART Domains Protein: ENSMUSP00000106849
Gene: ENSMUSG00000040557

DomainStartEndE-ValueType
Pfam:Ubie_methyltran 29 188 1.4e-11 PFAM
Pfam:Methyltransf_23 46 219 6.2e-14 PFAM
Pfam:MetW 62 165 6.4e-8 PFAM
Pfam:Methyltransf_18 67 169 7.2e-15 PFAM
Pfam:Methyltransf_31 67 216 1e-12 PFAM
Pfam:Methyltransf_25 71 162 1.3e-10 PFAM
Pfam:Methyltransf_12 72 164 1.8e-10 PFAM
Pfam:Methyltransf_11 72 166 5.2e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111219
SMART Domains Protein: ENSMUSP00000106850
Gene: ENSMUSG00000040557

DomainStartEndE-ValueType
Pfam:Ubie_methyltran 29 188 1.4e-11 PFAM
Pfam:Methyltransf_23 46 219 6.2e-14 PFAM
Pfam:MetW 62 165 6.4e-8 PFAM
Pfam:Methyltransf_18 67 169 7.2e-15 PFAM
Pfam:Methyltransf_31 67 216 1e-12 PFAM
Pfam:Methyltransf_25 71 162 1.3e-10 PFAM
Pfam:Methyltransf_12 72 164 1.8e-10 PFAM
Pfam:Methyltransf_11 72 166 5.2e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111221
SMART Domains Protein: ENSMUSP00000106852
Gene: ENSMUSG00000040557

DomainStartEndE-ValueType
Pfam:Methyltransf_23 46 185 9e-9 PFAM
Pfam:Methyltransf_18 67 164 3.8e-10 PFAM
Pfam:Methyltransf_11 72 148 9.6e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000136246
SMART Domains Protein: ENSMUSP00000119451
Gene: ENSMUSG00000040557

DomainStartEndE-ValueType
Pfam:Ubie_methyltran 28 116 1.2e-6 PFAM
Pfam:Methyltransf_23 45 123 1.3e-8 PFAM
Pfam:Methyltransf_18 67 127 2.5e-10 PFAM
Pfam:Methyltransf_11 72 127 5.6e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136815
Predicted Effect probably benign
Transcript: ENSMUST00000148286
SMART Domains Protein: ENSMUSP00000119109
Gene: ENSMUSG00000040557

DomainStartEndE-ValueType
Blast:ACTIN 1 59 4e-17 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000201847
SMART Domains Protein: ENSMUSP00000144170
Gene: ENSMUSG00000040557

DomainStartEndE-ValueType
Pfam:Ubie_methyltran 29 188 2.3e-9 PFAM
Pfam:Methyltransf_23 45 214 6.5e-11 PFAM
Pfam:MetW 62 165 8.7e-5 PFAM
Pfam:Methyltransf_18 67 169 4e-12 PFAM
Pfam:Methyltransf_31 67 215 1.1e-10 PFAM
Pfam:Methyltransf_25 71 162 1.6e-8 PFAM
Pfam:Methyltransf_12 72 164 2.7e-8 PFAM
Pfam:Methyltransf_11 72 166 1.5e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202228
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein belonging to ubiE/COQ5 methyltransferase family. The gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.22-q11.23. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acly G T 11: 100,495,910 L599I probably benign Het
Adcyap1 A G 17: 93,203,964 D122G probably benign Het
Ahr A G 12: 35,503,840 V760A probably benign Het
Ankrd7 T C 6: 18,868,278 V133A probably benign Het
Bsn A G 9: 108,111,785 V2256A probably damaging Het
Cblb A G 16: 52,186,229 K765E probably benign Het
Clmp A G 9: 40,782,610 *374W probably null Het
Ddc A G 11: 11,846,630 probably null Het
Dnah10 A G 5: 124,775,512 Y1878C probably damaging Het
Ei24 A G 9: 36,786,481 probably null Het
Gm12394 T A 4: 42,793,784 Q116L possibly damaging Het
Gm8394 T C 10: 85,314,164 noncoding transcript Het
Ikbke A G 1: 131,273,756 M118T probably damaging Het
Il6st T C 13: 112,480,239 S107P possibly damaging Het
Map2k6 A G 11: 110,496,411 Y203C probably damaging Het
Mrps14 G A 1: 160,196,995 W32* probably null Het
Naaa A C 5: 92,265,133 M208R probably benign Het
Nat2 A G 8: 67,501,541 Y101C probably damaging Het
Ncoa3 A G 2: 166,054,523 S449G probably benign Het
Olfr1507 A G 14: 52,490,748 I72T probably damaging Het
Olfr5 T C 7: 6,480,998 I53V probably benign Het
Phykpl G A 11: 51,599,456 probably benign Het
Rasgrf1 A T 9: 89,991,530 M631L probably benign Het
Rgma G A 7: 73,409,318 V57M possibly damaging Het
Samd4b G T 7: 28,413,963 D192E probably benign Het
Sesn2 T C 4: 132,499,367 T139A probably benign Het
Slc30a6 A G 17: 74,408,839 probably benign Het
Stra8 T C 6: 34,933,188 Y182H possibly damaging Het
Trim31 C A 17: 36,909,377 A395E probably damaging Het
Trp53bp2 G T 1: 182,431,583 R67L probably damaging Het
Trpa1 A C 1: 14,886,880 probably benign Het
Wdr91 G A 6: 34,909,543 probably benign Het
Other mutations in Mettl27
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0931:Mettl27 UTSW 5 134934431 splice site probably benign
R4039:Mettl27 UTSW 5 134940609 nonsense probably null
R4839:Mettl27 UTSW 5 134934412 missense probably damaging 1.00
R6158:Mettl27 UTSW 5 134940576 missense possibly damaging 0.77
R7226:Mettl27 UTSW 5 134935803 missense probably damaging 1.00
Posted On2013-10-07