Incidental Mutation 'R0535:Mettl22'
ID 49440
Institutional Source Beutler Lab
Gene Symbol Mettl22
Ensembl Gene ENSMUSG00000039345
Gene Name methyltransferase 22, Kin17 lysine
Synonyms
MMRRC Submission 038727-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0535 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 8288623-8308069 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 8302210 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000114563 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046470] [ENSMUST00000142899] [ENSMUST00000150790]
AlphaFold Q8R1C6
Predicted Effect probably benign
Transcript: ENSMUST00000046470
SMART Domains Protein: ENSMUSP00000044108
Gene: ENSMUSG00000039345

DomainStartEndE-ValueType
Pfam:Methyltransf_16 154 337 4.3e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000104369
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133208
Predicted Effect probably benign
Transcript: ENSMUST00000142899
SMART Domains Protein: ENSMUSP00000120894
Gene: ENSMUSG00000039345

DomainStartEndE-ValueType
Pfam:Methyltransf_16 116 209 9.9e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000150790
SMART Domains Protein: ENSMUSP00000114563
Gene: ENSMUSG00000039345

DomainStartEndE-ValueType
Pfam:Methyltransf_16 1 118 2.9e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151233
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.9%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency 96% (52/54)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk A G 11: 119,901,019 (GRCm39) S1069P probably benign Het
Acmsd A T 1: 127,693,680 (GRCm39) I305L probably benign Het
Aco2 G A 15: 81,797,418 (GRCm39) E625K possibly damaging Het
Acox1 G A 11: 116,065,264 (GRCm39) T561I possibly damaging Het
Acox2 T A 14: 8,256,753 (GRCm38) T37S probably damaging Het
Apc A T 18: 34,394,125 (GRCm39) K17M probably damaging Het
Cant1 T C 11: 118,301,969 (GRCm39) D116G probably damaging Het
Col11a1 A G 3: 113,855,184 (GRCm39) E148G unknown Het
Cyp51 T C 5: 4,149,202 (GRCm39) Q225R probably benign Het
E2f8 T C 7: 48,521,558 (GRCm39) probably benign Het
Fam163b T C 2: 27,002,778 (GRCm39) Y73C probably benign Het
Fbxw9 T C 8: 85,791,229 (GRCm39) C271R probably damaging Het
Gbp10 T C 5: 105,368,877 (GRCm39) N321D possibly damaging Het
Gle1 T C 2: 29,847,817 (GRCm39) F675L probably damaging Het
Gm6327 T C 16: 12,578,241 (GRCm39) noncoding transcript Het
Gphn T A 12: 78,538,824 (GRCm39) F157I possibly damaging Het
Gtpbp1 A T 15: 79,591,933 (GRCm39) T94S probably damaging Het
Hdac2 T C 10: 36,869,895 (GRCm39) F286L probably benign Het
Ighv3-6 A T 12: 114,252,090 (GRCm39) probably benign Het
Itga2b A G 11: 102,348,359 (GRCm39) V791A possibly damaging Het
Itgb4 A T 11: 115,881,835 (GRCm39) I796F possibly damaging Het
Kel T C 6: 41,667,772 (GRCm39) K390R probably null Het
Krt42 C T 11: 100,155,412 (GRCm39) C368Y probably damaging Het
Lancl1 A G 1: 67,049,065 (GRCm39) probably benign Het
Lipg A G 18: 75,087,291 (GRCm39) Y177H probably damaging Het
Lnpep T C 17: 17,791,935 (GRCm39) E402G possibly damaging Het
Ltbp2 A G 12: 84,837,826 (GRCm39) F1185L probably damaging Het
Ltbp2 A T 12: 84,831,632 (GRCm39) I1727N probably damaging Het
Mtcl2 T C 2: 156,875,209 (GRCm39) E847G possibly damaging Het
Mug1 G A 6: 121,828,413 (GRCm39) G275E probably benign Het
Nell2 T A 15: 95,329,488 (GRCm39) T278S probably benign Het
Nomo1 T A 7: 45,721,941 (GRCm39) S961T probably damaging Het
Or5ak22 A G 2: 85,230,439 (GRCm39) L146P possibly damaging Het
Pcare A G 17: 72,059,434 (GRCm39) V81A probably benign Het
Phf2 A G 13: 48,967,423 (GRCm39) Y675H unknown Het
Phldb2 A G 16: 45,577,490 (GRCm39) V1145A probably damaging Het
Phrf1 T C 7: 140,839,978 (GRCm39) S1058P probably benign Het
Prss3 T C 6: 41,351,903 (GRCm39) N120S probably benign Het
Reln G T 5: 22,256,274 (GRCm39) probably benign Het
Spag5 A G 11: 78,195,554 (GRCm39) Y287C probably benign Het
Syde2 G A 3: 145,694,925 (GRCm39) probably null Het
Synj1 C A 16: 90,744,975 (GRCm39) V1190F possibly damaging Het
Taok1 A T 11: 77,444,530 (GRCm39) I515N probably benign Het
Tmem259 A T 10: 79,814,429 (GRCm39) V309E probably damaging Het
Tmem62 T A 2: 120,833,077 (GRCm39) V494E possibly damaging Het
Trak1 A T 9: 121,272,778 (GRCm39) E119V probably null Het
Vmn1r1 T A 1: 181,985,516 (GRCm39) I50L probably benign Het
Vps35l T C 7: 118,347,404 (GRCm39) F118S possibly damaging Het
Xpc C T 6: 91,481,560 (GRCm39) V254I possibly damaging Het
Zfp58 G A 13: 67,640,201 (GRCm39) Q97* probably null Het
Zscan5b A G 7: 6,236,911 (GRCm39) E220G possibly damaging 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
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
R8275:Mettl22 UTSW 16 8,303,792 (GRCm39) missense possibly damaging 0.94
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
(F):5'- CACCTTAAATGAGCGGAGCAAAGC -3'
(R):5'- TCACAGTGCCCAATGACAGTGATTC -3'

Sequencing Primer
(F):5'- GGAGCAAAGCAGTCTGGC -3'
(R):5'- GAAAGAACTTGTCCGTCAGC -3'
Posted On 2013-06-12