Incidental Mutation 'IGL01878:Mettl21e'
ID178950
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mettl21e
Ensembl Gene ENSMUSG00000046828
Gene Namemethyltransferase like 21E
SynonymsLOC381340, 4832428D23Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.066) question?
Stock #IGL01878
Quality Score
Status
Chromosome1
Chromosomal Location44204070-44218961 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 44211033 bp
ZygosityHeterozygous
Amino Acid Change Serine to Leucine at position 71 (S71L)
Ref Sequence ENSEMBL: ENSMUSP00000056481 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054801]
Predicted Effect probably null
Transcript: ENSMUST00000054801
AA Change: S71L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000056481
Gene: ENSMUSG00000046828
AA Change: S71L

DomainStartEndE-ValueType
Pfam:Methyltransf_16 49 217 3.9e-35 PFAM
Pfam:PrmA 74 225 7.1e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150062
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161563
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alox8 G T 11: 69,197,038 Q147K probably benign Het
Ankib1 T A 5: 3,734,152 M275L possibly damaging Het
Asb2 G A 12: 103,321,663 P546S possibly damaging Het
B9d1 T C 11: 61,507,623 probably benign Het
Col12a1 T C 9: 79,649,975 D1957G possibly damaging Het
Cryzl2 T C 1: 157,472,400 V44A possibly damaging Het
Fbxw19 A C 9: 109,483,279 probably benign Het
Gabrb3 T C 7: 57,816,415 F326L probably damaging Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm11168 T C 9: 3,005,204 C16R probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Gm7808 T A 9: 19,928,246 probably benign Het
Gpam T C 19: 55,083,374 I312V probably benign Het
H2-M10.5 A G 17: 36,773,816 Y144C probably damaging Het
Hivep3 T C 4: 120,095,227 S247P possibly damaging Het
Hs3st4 T G 7: 124,397,313 C401G probably damaging Het
Klhl2 A G 8: 64,759,824 V227A probably damaging Het
Lct T C 1: 128,294,266 N1512S probably damaging Het
Lipm T A 19: 34,116,511 L276Q possibly damaging Het
Lmf2 T A 15: 89,352,418 H515L probably damaging Het
Mccc1 G A 3: 35,975,892 S423L probably damaging Het
Muc16 T A 9: 18,495,543 H251L possibly damaging Het
Neb T C 2: 52,169,840 probably benign Het
Ntf5 T C 7: 45,416,026 I194T probably damaging Het
Olfr1124 T C 2: 87,434,970 I161T possibly damaging Het
Olfr1154 A T 2: 87,903,331 L115* probably null Het
Olfr1265 T C 2: 90,037,134 S72P probably damaging Het
Olfr1361 T C 13: 21,658,783 D180G possibly damaging Het
Olfr99 A G 17: 37,280,000 V140A possibly damaging Het
Pigv T C 4: 133,665,117 I247M probably benign Het
Pik3r5 A G 11: 68,492,530 N392D probably benign Het
Postn A G 3: 54,383,480 probably null Het
Prl2c5 G A 13: 13,185,817 S23N probably benign Het
Prpf40b T C 15: 99,306,532 C220R possibly damaging Het
Pzp A G 6: 128,495,298 S843P probably damaging Het
Rpl23 C A 11: 97,778,351 R85L probably benign Het
Shcbp1 A G 8: 4,749,721 S252P probably damaging Het
Slc26a7 C T 4: 14,519,388 probably null Het
Sptbn4 T C 7: 27,364,146 E2285G probably damaging Het
Telo2 G T 17: 25,101,358 T784K probably benign Het
Tnfrsf19 C T 14: 60,996,644 V136M probably damaging Het
Trpm5 T A 7: 143,074,497 I22F probably damaging Het
Trpv6 G T 6: 41,626,867 probably benign Het
Vmn1r173 T G 7: 23,702,452 H37Q probably damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Xpo6 T A 7: 126,174,193 H20L probably benign Het
Zfp462 T C 4: 55,010,613 Y860H probably damaging Het
Other mutations in Mettl21e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00660:Mettl21e APN 1 44206370 missense possibly damaging 0.80
IGL02194:Mettl21e APN 1 44211183 missense probably benign
IGL03032:Mettl21e APN 1 44210159 splice site probably null
IGL03396:Mettl21e APN 1 44206599 missense possibly damaging 0.67
R0165:Mettl21e UTSW 1 44211123 missense probably damaging 1.00
R0363:Mettl21e UTSW 1 44211030 critical splice donor site probably null
R0525:Mettl21e UTSW 1 44206382 missense probably damaging 0.98
R2078:Mettl21e UTSW 1 44206502 missense possibly damaging 0.80
R2143:Mettl21e UTSW 1 44210238 missense probably benign 0.06
R3623:Mettl21e UTSW 1 44206697 missense probably damaging 0.99
R3870:Mettl21e UTSW 1 44206364 missense probably benign 0.01
R4780:Mettl21e UTSW 1 44211143 missense probably benign
R5488:Mettl21e UTSW 1 44218116 missense probably benign
R5654:Mettl21e UTSW 1 44211095 missense probably damaging 1.00
R6490:Mettl21e UTSW 1 44210265 missense probably damaging 0.97
R6697:Mettl21e UTSW 1 44210167 missense probably damaging 1.00
R6804:Mettl21e UTSW 1 44218135 missense probably benign 0.01
R6862:Mettl21e UTSW 1 44206366 missense probably benign 0.00
R7282:Mettl21e UTSW 1 44210239 missense probably damaging 0.98
R7870:Mettl21e UTSW 1 44210211 missense probably damaging 1.00
R7953:Mettl21e UTSW 1 44210211 missense probably damaging 1.00
R8054:Mettl21e UTSW 1 44206655 missense probably damaging 1.00
Z1177:Mettl21e UTSW 1 44206550 missense probably damaging 1.00
Posted On2014-05-07