Incidental Mutation 'IGL02418:Mettl11b'
ID292520
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mettl11b
Ensembl Gene ENSMUSG00000040113
Gene Namemethyltransferase like 11B
SynonymsLOC240879
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.080) question?
Stock #IGL02418
Quality Score
Status
Chromosome1
Chromosomal Location163702256-163725232 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 163703156 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 238 (V238E)
Ref Sequence ENSEMBL: ENSMUSP00000124211 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159679] [ENSMUST00000160495]
Predicted Effect probably damaging
Transcript: ENSMUST00000159679
AA Change: V238E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000124211
Gene: ENSMUSG00000040113
AA Change: V238E

DomainStartEndE-ValueType
Pfam:Methyltransf_PK 64 278 5.7e-74 PFAM
Pfam:Methyltransf_11 121 220 4.1e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160495
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp T A 16: 56,604,116 probably benign Het
Acsbg2 A G 17: 56,849,730 V436A probably benign Het
Afap1l1 T C 18: 61,752,577 D156G probably damaging Het
AI481877 A T 4: 59,049,075 probably benign Het
Arhgap21 G A 2: 20,880,900 R489C probably damaging Het
Arhgap26 G A 18: 39,357,567 probably benign Het
Bbs5 T G 2: 69,655,505 *89G probably null Het
Ceacam5 A T 7: 17,759,434 Y794F possibly damaging Het
Ces3b T C 8: 105,085,647 V176A probably damaging Het
Cfi A G 3: 129,848,812 H105R probably benign Het
Chat C T 14: 32,446,949 V210I possibly damaging Het
Chd1l A G 3: 97,581,099 S534P probably benign Het
Cyb5rl T C 4: 107,070,985 L106P probably damaging Het
Cyp21a1 A G 17: 34,804,188 probably benign Het
Dnah12 T C 14: 26,773,722 C1436R probably damaging Het
Flg2 T A 3: 93,201,054 F130I probably benign Het
Fryl T A 5: 73,110,176 probably benign Het
Galnt10 T C 11: 57,781,168 V428A probably benign Het
Ganab A G 19: 8,911,069 D496G probably null Het
Gapvd1 T C 2: 34,730,518 T44A probably benign Het
Gm17093 T A 14: 44,520,728 M122K unknown Het
Gm5356 A T 8: 89,187,436 noncoding transcript Het
Gmppa G T 1: 75,439,020 G126C probably damaging Het
Il23r T C 6: 67,490,672 H37R possibly damaging Het
Itga11 A G 9: 62,744,632 I349V probably benign Het
Lrrc42 A T 4: 107,243,336 Y159* probably null Het
Naa16 C A 14: 79,383,366 R57L probably damaging Het
Olfr967 A G 9: 39,750,491 Y35C probably damaging Het
Oxtr A T 6: 112,477,239 H21Q probably damaging Het
Paqr7 A G 4: 134,506,973 Y47C probably damaging Het
Paxbp1 A C 16: 91,034,112 C459G probably damaging Het
Pnp2 C T 14: 50,963,836 R222C possibly damaging Het
Rtl1 T C 12: 109,590,449 D1652G probably damaging Het
Spata4 C A 8: 54,609,943 N294K probably benign Het
Tcp11l2 T A 10: 84,613,606 Y478* probably null Het
Tcte1 T A 17: 45,541,202 S454T probably benign Het
Tex45 T A 8: 3,476,080 F78I probably damaging Het
Thsd4 C T 9: 60,428,315 V105I probably damaging Het
Tmem117 T A 15: 94,931,884 I200N probably benign Het
Tpgs1 G A 10: 79,669,455 V16M probably benign Het
Ttn G T 2: 76,967,103 T539K probably benign Het
Usp24 A G 4: 106,436,360 S2542G probably benign Het
Vmn2r44 A T 7: 8,377,865 L343H probably damaging Het
Zmat2 T A 18: 36,794,339 Y21N probably damaging Het
Zyx C T 6: 42,357,393 A517V probably damaging Het
Other mutations in Mettl11b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01729:Mettl11b APN 1 163725003 missense probably damaging 1.00
IGL01973:Mettl11b APN 1 163717120 missense probably benign 0.00
IGL02597:Mettl11b APN 1 163717087 missense probably benign 0.00
IGL03060:Mettl11b APN 1 163717123 missense probably damaging 1.00
IGL03162:Mettl11b APN 1 163703214 missense probably damaging 0.98
R4569:Mettl11b UTSW 1 163703017 makesense probably null
R4618:Mettl11b UTSW 1 163725028 missense probably damaging 1.00
R4888:Mettl11b UTSW 1 163703064 missense probably benign 0.11
R5165:Mettl11b UTSW 1 163722523 missense probably benign 0.01
R6353:Mettl11b UTSW 1 163704111 missense possibly damaging 0.94
R6503:Mettl11b UTSW 1 163704146 missense probably damaging 1.00
R7726:Mettl11b UTSW 1 163703184 missense probably benign 0.27
R8092:Mettl11b UTSW 1 163717250 missense probably damaging 1.00
Posted On2015-04-16