Incidental Mutation 'R8275:Mettl22'
ID 637957
Institutional Source Beutler Lab
Gene Symbol Mettl22
Ensembl Gene ENSMUSG00000039345
Gene Name methyltransferase 22, Kin17 lysine
MMRRC Submission 067698-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8275 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 8288623-8308069 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 8303792 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 286 (V286A)
Ref Sequence ENSEMBL: ENSMUSP00000044108 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046470] [ENSMUST00000142899] [ENSMUST00000150790]
AlphaFold Q8R1C6
Predicted Effect possibly damaging
Transcript: ENSMUST00000046470
AA Change: V286A

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000044108
Gene: ENSMUSG00000039345
AA Change: V286A

Pfam:Methyltransf_16 154 337 4.3e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000142899
SMART Domains Protein: ENSMUSP00000120894
Gene: ENSMUSG00000039345

Pfam:Methyltransf_16 116 209 9.9e-15 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000150790
AA Change: V72A

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000114563
Gene: ENSMUSG00000039345
AA Change: V72A

Pfam:Methyltransf_16 1 118 2.9e-7 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 100% (39/39)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the non-histone lysine methyltransferases. It interacts with its substrate, Kin17, which is involved in DNA repair and replication and mRNA processing. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alx1 T C 10: 102,864,250 (GRCm39) D73G probably benign Het
Asah1 G A 8: 41,801,159 (GRCm39) H156Y probably damaging Het
Cgn G A 3: 94,682,263 (GRCm39) L439F possibly damaging Het
Creb1 C A 1: 64,597,687 (GRCm39) T7K probably benign Het
Cyp2c54 T A 19: 40,026,749 (GRCm39) I469L probably benign Het
Cyp2s1 T A 7: 25,508,735 (GRCm39) T236S probably benign Het
Duox1 T C 2: 122,175,249 (GRCm39) I1349T probably benign Het
Efhd2 C T 4: 141,602,073 (GRCm39) A36T probably benign Het
Espl1 G A 15: 102,211,188 (GRCm39) probably benign Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fat3 T A 9: 16,158,046 (GRCm39) Q1188L probably damaging Het
Flt1 A T 5: 147,614,957 (GRCm39) Y330N probably damaging Het
Golga4 A T 9: 118,361,627 (GRCm39) S202C probably damaging Het
Htr2b C T 1: 86,030,294 (GRCm39) D134N probably damaging Het
Katna1 T A 10: 7,628,574 (GRCm39) C268S probably damaging Het
Lama4 T C 10: 38,948,807 (GRCm39) Y857H probably damaging Het
Lyst T C 13: 13,950,667 (GRCm39) I3741T probably benign Het
Mcm4 T C 16: 15,452,435 (GRCm39) I233V probably damaging Het
Nav3 C A 10: 109,527,984 (GRCm39) G1503V noncoding transcript Het
Obox1 T A 7: 15,290,153 (GRCm39) N165K probably damaging Het
Or11g2 T A 14: 50,855,868 (GRCm39) M63K probably damaging Het
Oxa1l T A 14: 54,600,758 (GRCm39) I77N possibly damaging Het
Pakap T C 4: 57,886,329 (GRCm39) probably null Het
Papss2 T C 19: 32,615,760 (GRCm39) L164P probably damaging Het
Pikfyve T A 1: 65,292,501 (GRCm39) probably benign Het
Polr2a G A 11: 69,638,882 (GRCm39) R51C probably damaging Het
Rsph10b C G 5: 143,903,323 (GRCm39) T606S possibly damaging Het
Siglecg T C 7: 43,061,892 (GRCm39) V546A probably benign Het
Slc22a29 T C 19: 8,146,681 (GRCm39) S374G probably benign Het
Tia1 C T 6: 86,404,718 (GRCm39) Q318* probably null Het
Trpm2 T A 10: 77,801,859 (GRCm39) K69* probably null Het
Unc80 C T 1: 66,679,773 (GRCm39) R2115* probably null Het
Usp35 A G 7: 96,964,026 (GRCm39) S436P probably damaging Het
Vmn1r220 A T 13: 23,368,483 (GRCm39) L71* probably null Het
Vmn2r15 A T 5: 109,434,150 (GRCm39) D851E probably benign Het
Vps33a A T 5: 123,707,522 (GRCm39) D148E probably damaging Het
Zfp729a G A 13: 67,768,223 (GRCm39) H669Y probably benign Het
Zfp804b C T 5: 6,822,289 (GRCm39) R258Q probably benign Het
Other mutations in Mettl22
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01720:Mettl22 APN 16 8,302,117 (GRCm39) splice site probably benign
IGL02178:Mettl22 APN 16 8,296,146 (GRCm39) missense probably benign 0.01
IGL02632:Mettl22 APN 16 8,302,117 (GRCm39) splice site probably benign
R0535:Mettl22 UTSW 16 8,302,210 (GRCm39) splice site probably benign
R0840:Mettl22 UTSW 16 8,300,021 (GRCm39) missense probably damaging 0.99
R1473:Mettl22 UTSW 16 8,291,825 (GRCm39) missense probably damaging 1.00
R2422:Mettl22 UTSW 16 8,305,225 (GRCm39) missense probably damaging 0.99
R5166:Mettl22 UTSW 16 8,296,115 (GRCm39) missense probably benign 0.03
R5236:Mettl22 UTSW 16 8,306,597 (GRCm39) nonsense probably null
R6488:Mettl22 UTSW 16 8,305,225 (GRCm39) missense probably damaging 0.99
R6492:Mettl22 UTSW 16 8,306,755 (GRCm39) splice site probably null
R7179:Mettl22 UTSW 16 8,295,924 (GRCm39) missense probably benign 0.00
R7770:Mettl22 UTSW 16 8,303,764 (GRCm39) missense possibly damaging 0.93
R8159:Mettl22 UTSW 16 8,306,633 (GRCm39) missense probably benign 0.24
R8810:Mettl22 UTSW 16 8,303,792 (GRCm39) missense probably damaging 1.00
R8815:Mettl22 UTSW 16 8,300,178 (GRCm39) missense probably benign 0.00
R9109:Mettl22 UTSW 16 8,305,231 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2020-07-28