Incidental Mutation 'IGL00508:Mettl3'
ID 28914
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mettl3
Ensembl Gene ENSMUSG00000022160
Gene Name methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit
Synonyms M6A, 2310024F18Rik, Spo8
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00508
Quality Score
Status
Chromosome 14
Chromosomal Location 52532298-52542585 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to A at 52532436 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000133864 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022766] [ENSMUST00000022767] [ENSMUST00000122962] [ENSMUST00000147768] [ENSMUST00000173138] [ENSMUST00000174351] [ENSMUST00000174853] [ENSMUST00000173896]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000022766
SMART Domains Protein: ENSMUSP00000022766
Gene: ENSMUSG00000016831

DomainStartEndE-ValueType
low complexity region 146 160 N/A INTRINSIC
low complexity region 207 218 N/A INTRINSIC
HMG 222 292 1.17e-18 SMART
low complexity region 307 339 N/A INTRINSIC
low complexity region 435 476 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000022767
SMART Domains Protein: ENSMUSP00000022767
Gene: ENSMUSG00000022160

DomainStartEndE-ValueType
low complexity region 53 67 N/A INTRINSIC
low complexity region 82 93 N/A INTRINSIC
low complexity region 191 213 N/A INTRINSIC
Pfam:MT-A70 389 550 9.9e-65 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000122962
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127797
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130550
Predicted Effect probably benign
Transcript: ENSMUST00000147768
SMART Domains Protein: ENSMUSP00000134577
Gene: ENSMUSG00000022160

DomainStartEndE-ValueType
low complexity region 53 67 N/A INTRINSIC
low complexity region 82 93 N/A INTRINSIC
low complexity region 191 213 N/A INTRINSIC
low complexity region 231 242 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173546
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152493
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156611
Predicted Effect probably benign
Transcript: ENSMUST00000173138
SMART Domains Protein: ENSMUSP00000134018
Gene: ENSMUSG00000022160

DomainStartEndE-ValueType
low complexity region 53 67 N/A INTRINSIC
low complexity region 82 93 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000174351
SMART Domains Protein: ENSMUSP00000134732
Gene: ENSMUSG00000022160

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
low complexity region 31 42 N/A INTRINSIC
low complexity region 140 162 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000174853
SMART Domains Protein: ENSMUSP00000133864
Gene: ENSMUSG00000022160

DomainStartEndE-ValueType
low complexity region 120 142 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000174360
SMART Domains Protein: ENSMUSP00000134578
Gene: ENSMUSG00000022160

DomainStartEndE-ValueType
Pfam:MT-A70 1 34 4.3e-10 PFAM
Pfam:MT-A70 30 74 1.4e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173656
SMART Domains Protein: ENSMUSP00000133759
Gene: ENSMUSG00000022160

DomainStartEndE-ValueType
Pfam:MT-A70 1 60 8.6e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173896
SMART Domains Protein: ENSMUSP00000133506
Gene: ENSMUSG00000022160

DomainStartEndE-ValueType
low complexity region 53 67 N/A INTRINSIC
low complexity region 82 93 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the 70 kDa subunit of MT-A which is part of N6-adenosine-methyltransferase. This enzyme is involved in the posttranscriptional methylation of internal adenosine residues in eukaryotic mRNAs, forming N6-methyladenosine. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality between E3.5 and E8.5 with a deficiency in adopting the epiblast egg cylinder. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A C 13: 81,654,306 (GRCm39) D2188E probably damaging Het
Atrx A G X: 104,867,405 (GRCm39) S2026P probably damaging Het
Cacna1b A C 2: 24,547,301 (GRCm39) probably null Het
Cfap46 C T 7: 139,240,605 (GRCm39) S56N probably damaging Het
Cfap57 C T 4: 118,438,367 (GRCm39) probably null Het
Ckap5 T G 2: 91,436,601 (GRCm39) V1567G probably damaging Het
Cyp2c38 A T 19: 39,449,169 (GRCm39) Y61* probably null Het
D130052B06Rik A G 11: 33,549,402 (GRCm39) E7G unknown Het
Dhx38 A G 8: 110,283,566 (GRCm39) L527P possibly damaging Het
Dnaaf5 A G 5: 139,163,701 (GRCm39) N653D probably benign Het
Dnah8 T G 17: 31,074,904 (GRCm39) M4541R probably damaging Het
Dpyd A T 3: 118,858,636 (GRCm39) T617S probably benign Het
Fpr2 A T 17: 18,113,034 (GRCm39) N10I probably damaging Het
Frmd4a A T 2: 4,599,545 (GRCm39) K524* probably null Het
Gpr45 C T 1: 43,071,452 (GRCm39) P32S possibly damaging Het
H2-Eb2 A T 17: 34,553,341 (GRCm39) I176F probably damaging Het
Hcrtr1 T A 4: 130,031,062 (GRCm39) N74I probably damaging Het
Ifi47 C T 11: 48,986,241 (GRCm39) Q3* probably null Het
Krt8 T A 15: 101,906,460 (GRCm39) M350L probably benign Het
Lilra6 A G 7: 3,914,553 (GRCm39) S533P probably benign Het
Map1b A T 13: 99,565,741 (GRCm39) S2327T unknown Het
Mcoln3 T A 3: 145,839,683 (GRCm39) I345N probably damaging Het
Mgat4a G A 1: 37,488,204 (GRCm39) R472* probably null Het
Micall1 A G 15: 79,014,768 (GRCm39) K715E probably damaging Het
Pak1 G T 7: 97,503,775 (GRCm39) G37C probably benign Het
Pomt2 T G 12: 87,166,401 (GRCm39) H426P probably damaging Het
Pou2f3 G A 9: 43,051,258 (GRCm39) P155S probably benign Het
Psg25 A G 7: 18,263,656 (GRCm39) Y56H probably benign Het
Rab9 G T X: 165,240,860 (GRCm39) Y150* probably null Het
Rhox2g T A X: 36,824,463 (GRCm39) N152I probably damaging Het
Sema6d T C 2: 124,498,844 (GRCm39) probably benign Het
Simc1 C A 13: 54,672,989 (GRCm39) Q446K probably benign Het
Svs5 G T 2: 164,078,962 (GRCm39) T315K possibly damaging Het
Syt9 C T 7: 107,024,574 (GRCm39) R156* probably null Het
Tmem260 A T 14: 48,746,578 (GRCm39) Y618F probably damaging Het
Wdr44 A G X: 23,666,783 (GRCm39) I719V possibly damaging Het
Zfp518a T G 19: 40,901,914 (GRCm39) I614M probably damaging Het
Other mutations in Mettl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00401:Mettl3 APN 14 52,534,424 (GRCm39) unclassified probably benign
R0417:Mettl3 UTSW 14 52,534,155 (GRCm39) missense probably damaging 1.00
R1533:Mettl3 UTSW 14 52,534,385 (GRCm39) missense probably benign 0.01
R2113:Mettl3 UTSW 14 52,532,441 (GRCm39) makesense probably null
R3785:Mettl3 UTSW 14 52,537,363 (GRCm39) missense probably benign 0.15
R3786:Mettl3 UTSW 14 52,537,363 (GRCm39) missense probably benign 0.15
R4651:Mettl3 UTSW 14 52,532,549 (GRCm39) missense probably damaging 1.00
R4652:Mettl3 UTSW 14 52,532,549 (GRCm39) missense probably damaging 1.00
R4938:Mettl3 UTSW 14 52,537,184 (GRCm39) missense probably damaging 1.00
R5462:Mettl3 UTSW 14 52,537,336 (GRCm39) missense probably damaging 0.96
R6046:Mettl3 UTSW 14 52,536,243 (GRCm39) missense possibly damaging 0.91
R6151:Mettl3 UTSW 14 52,532,477 (GRCm39) missense probably damaging 1.00
R6169:Mettl3 UTSW 14 52,536,214 (GRCm39) missense possibly damaging 0.88
R6225:Mettl3 UTSW 14 52,534,215 (GRCm39) splice site probably null
R6282:Mettl3 UTSW 14 52,535,428 (GRCm39) missense probably benign 0.01
R8038:Mettl3 UTSW 14 52,537,421 (GRCm39) missense possibly damaging 0.80
R8110:Mettl3 UTSW 14 52,537,709 (GRCm39) missense probably benign 0.02
R9332:Mettl3 UTSW 14 52,534,125 (GRCm39) missense probably damaging 1.00
R9757:Mettl3 UTSW 14 52,537,361 (GRCm39) missense probably benign 0.00
RF001:Mettl3 UTSW 14 52,537,756 (GRCm39) missense probably benign
X0025:Mettl3 UTSW 14 52,535,545 (GRCm39) splice site probably null
Posted On 2013-04-17