Incidental Mutation 'IGL02960:Mettl14'
ID365307
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mettl14
Ensembl Gene ENSMUSG00000028114
Gene Namemethyltransferase like 14
SynonymsG430022H21Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02960
Quality Score
Status
Chromosome3
Chromosomal Location123368297-123386108 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 123374885 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 169 (Y169H)
Ref Sequence ENSEMBL: ENSMUSP00000087848 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029759] [ENSMUST00000090371] [ENSMUST00000174006] [ENSMUST00000174323]
Predicted Effect probably damaging
Transcript: ENSMUST00000029759
AA Change: Y169H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029759
Gene: ENSMUSG00000028114
AA Change: Y169H

DomainStartEndE-ValueType
low complexity region 4 23 N/A INTRINSIC
coiled coil region 65 90 N/A INTRINSIC
Pfam:MT-A70 186 363 2.7e-66 PFAM
low complexity region 397 406 N/A INTRINSIC
low complexity region 408 452 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000090371
AA Change: Y169H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000087848
Gene: ENSMUSG00000028114
AA Change: Y169H

DomainStartEndE-ValueType
low complexity region 4 23 N/A INTRINSIC
coiled coil region 65 90 N/A INTRINSIC
Pfam:MT-A70 186 289 3e-33 PFAM
low complexity region 310 319 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000174006
SMART Domains Protein: ENSMUSP00000133741
Gene: ENSMUSG00000028114

DomainStartEndE-ValueType
low complexity region 4 13 N/A INTRINSIC
Pfam:MT-A70 28 146 6e-45 PFAM
low complexity region 180 189 N/A INTRINSIC
low complexity region 191 202 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000174323
AA Change: Y169H

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000134198
Gene: ENSMUSG00000028114
AA Change: Y169H

DomainStartEndE-ValueType
low complexity region 4 23 N/A INTRINSIC
coiled coil region 65 90 N/A INTRINSIC
Pfam:MT-A70 186 360 7.3e-63 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700129C05Rik G A 14: 59,142,808 R14C probably benign Het
Adam29 A T 8: 55,872,666 L251* probably null Het
Atpaf2 T C 11: 60,405,824 E161G probably damaging Het
Brwd1 T C 16: 96,057,466 D381G probably damaging Het
Cept1 T A 3: 106,539,396 R45* probably null Het
Col3a1 A G 1: 45,328,455 E273G unknown Het
Cuzd1 T C 7: 131,320,103 N57D probably benign Het
Cyp2b13 A G 7: 26,061,676 K53E probably benign Het
Fadd T C 7: 144,580,539 E203G probably benign Het
Gm14548 T C 7: 3,897,079 T175A possibly damaging Het
Gm3159 G A 14: 4,400,552 probably null Het
Gpr137c T C 14: 45,246,433 F206L possibly damaging Het
Hephl1 G T 9: 15,084,319 T471N probably damaging Het
Ido1 A T 8: 24,593,329 probably benign Het
Krt40 C T 11: 99,539,867 probably null Het
Lrp2 T A 2: 69,455,453 probably benign Het
Lrrc8a T A 2: 30,257,013 L613H probably damaging Het
Nlrp4a A G 7: 26,449,730 Q254R probably benign Het
Olfr1211 A C 2: 88,929,784 M177R possibly damaging Het
Olfr1356 A T 10: 78,847,537 I126N probably damaging Het
Pkhd1 A T 1: 20,377,446 M2241K possibly damaging Het
Ptprd G A 4: 76,128,868 S387L probably damaging Het
Ryr1 A C 7: 29,060,053 L3264R probably damaging Het
Serpina16 G A 12: 103,675,379 T29I probably benign Het
Slc9a7 A G X: 20,186,143 M237T probably benign Het
Tbck A G 3: 132,722,783 T300A probably benign Het
Tcaf1 A C 6: 42,686,459 D162E probably benign Het
Unc80 G A 1: 66,678,058 probably benign Het
Usp17le A C 7: 104,768,740 H398Q probably benign Het
Utp15 G A 13: 98,252,881 T303M probably benign Het
Vmn2r86 A C 10: 130,453,767 D86E possibly damaging Het
Zmym2 T A 14: 56,938,413 C822S probably benign Het
Zp3r T C 1: 130,583,438 D336G possibly damaging Het
Zpr1 A G 9: 46,273,551 H82R probably damaging Het
Other mutations in Mettl14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00718:Mettl14 APN 3 123371339 missense probably damaging 1.00
IGL00846:Mettl14 APN 3 123371363 missense probably damaging 1.00
IGL01614:Mettl14 APN 3 123373960 splice site probably benign
IGL02219:Mettl14 APN 3 123374891 splice site probably benign
R0147:Mettl14 UTSW 3 123371394 missense probably damaging 1.00
R0148:Mettl14 UTSW 3 123371394 missense probably damaging 1.00
R0266:Mettl14 UTSW 3 123382826 missense probably benign 0.05
R0468:Mettl14 UTSW 3 123371412 missense probably damaging 1.00
R0543:Mettl14 UTSW 3 123374762 missense possibly damaging 0.65
R1181:Mettl14 UTSW 3 123374002 missense probably damaging 1.00
R1463:Mettl14 UTSW 3 123374073 splice site probably benign
R4256:Mettl14 UTSW 3 123383605 missense probably damaging 1.00
R4679:Mettl14 UTSW 3 123369414 utr 3 prime probably benign
R4845:Mettl14 UTSW 3 123371355 missense probably damaging 1.00
R5163:Mettl14 UTSW 3 123374825 missense possibly damaging 0.90
R6476:Mettl14 UTSW 3 123374037 missense probably damaging 1.00
R7499:Mettl14 UTSW 3 123374854 missense probably benign 0.30
R7682:Mettl14 UTSW 3 123383604 missense possibly damaging 0.86
R7808:Mettl14 UTSW 3 123372585 missense possibly damaging 0.46
R8044:Mettl14 UTSW 3 123369660 missense probably benign 0.14
Posted On2015-12-18