Incidental Mutation 'R7181:Mettl8'
ID 558958
Institutional Source Beutler Lab
Gene Symbol Mettl8
Ensembl Gene ENSMUSG00000041975
Gene Name methyltransferase 8, methylcytidine
Synonyms TIP
MMRRC Submission 045270-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.880) question?
Stock # R7181 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 70794905-70885927 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 70803706 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 194 (S194T)
Ref Sequence ENSEMBL: ENSMUSP00000097615 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100037] [ENSMUST00000112179] [ENSMUST00000112186] [ENSMUST00000121586] [ENSMUST00000148876] [ENSMUST00000149181]
AlphaFold A2AUU0
Predicted Effect possibly damaging
Transcript: ENSMUST00000100037
AA Change: S194T

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000097615
Gene: ENSMUSG00000041975
AA Change: S194T

DomainStartEndE-ValueType
Pfam:Methyltransf_23 115 304 1.4e-14 PFAM
Pfam:Ubie_methyltran 126 265 1.4e-7 PFAM
Pfam:Methyltransf_31 137 304 5.6e-10 PFAM
Pfam:Methyltransf_26 140 251 4.2e-8 PFAM
Pfam:Methyltransf_25 143 246 5.3e-13 PFAM
Pfam:Methyltransf_12 144 248 1e-12 PFAM
Pfam:Methyltransf_11 144 250 7.4e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112179
SMART Domains Protein: ENSMUSP00000107800
Gene: ENSMUSG00000041975

DomainStartEndE-ValueType
low complexity region 190 206 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000112186
AA Change: S241T

PolyPhen 2 Score 0.748 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000107804
Gene: ENSMUSG00000041975
AA Change: S241T

DomainStartEndE-ValueType
Pfam:Methyltransf_23 158 349 5.1e-15 PFAM
Pfam:Ubie_methyltran 173 312 8.7e-8 PFAM
Pfam:Methyltransf_31 184 348 3.7e-9 PFAM
Pfam:Methyltransf_25 190 293 3.9e-13 PFAM
Pfam:Methyltransf_12 191 295 7e-13 PFAM
Pfam:Methyltransf_11 191 297 6.2e-13 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000121586
AA Change: S241T

PolyPhen 2 Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000113642
Gene: ENSMUSG00000041975
AA Change: S241T

DomainStartEndE-ValueType
Pfam:Methyltransf_25 190 279 1.4e-6 PFAM
Pfam:Methyltransf_11 191 280 5.6e-7 PFAM
Predicted Effect
SMART Domains Protein: ENSMUSP00000118026
Gene: ENSMUSG00000041975
AA Change: S9T

DomainStartEndE-ValueType
Pfam:Methyltransf_11 2 66 2.2e-8 PFAM
Pfam:Methyltransf_23 3 109 6.3e-9 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000148876
AA Change: S241T

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000115855
Gene: ENSMUSG00000041975
AA Change: S241T

DomainStartEndE-ValueType
Pfam:Methyltransf_25 190 281 1.9e-8 PFAM
Pfam:Methyltransf_11 191 280 2.8e-8 PFAM
Predicted Effect silent
Transcript: ENSMUST00000149181
SMART Domains Protein: ENSMUSP00000119863
Gene: ENSMUSG00000041975

DomainStartEndE-ValueType
SCOP:d1af7_2 107 137 7e-3 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 98% (62/63)
MGI Phenotype FUNCTION: This locus encodes a member of the methyltransferase family, and is involved in chromatin remodeling. Transcripts from this locus can be induced or inhibited by cell stretch and affect cell differentiation in the myogenic or adipogenic pathways. Multiple transcript variants encoding different isoforms have been found for this gene. Additional splice variants have been described in the literature but they meet nonsense-mediated decay (NMD) criteria and are likely to be degraded as soon as they are transcribed. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced 3-methylcytidine (m3C) methyltransferases modification of mRNA. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg3 A G 17: 57,188,037 (GRCm39) N182D probably benign Het
Adgrl1 A G 8: 84,652,878 (GRCm39) probably null Het
Adm T C 7: 110,228,236 (GRCm39) I139T probably damaging Het
Ahnak A T 19: 8,990,852 (GRCm39) K4045N probably damaging Het
Axin1 T A 17: 26,392,752 (GRCm39) S344R probably damaging Het
Cacna1g T C 11: 94,306,691 (GRCm39) S1896G probably benign Het
Cd209c A G 8: 3,995,712 (GRCm39) V30A probably benign Het
Cd86 CA CAA 16: 36,426,917 (GRCm39) probably null Het
Cdh8 A T 8: 99,825,557 (GRCm39) M520K probably benign Het
Cyp2b23 G A 7: 26,373,828 (GRCm39) T306I probably damaging Het
Dnajc10 T G 2: 80,149,587 (GRCm39) Y96* probably null Het
Eif1ad14 G A 12: 87,886,492 (GRCm39) R46W possibly damaging Het
Elmod1 A C 9: 53,841,382 (GRCm39) probably null Het
Eva1b A G 4: 126,043,446 (GRCm39) H162R possibly damaging Het
Fam222b A T 11: 78,045,804 (GRCm39) N455I probably damaging Het
Fer1l6 G A 15: 58,447,146 (GRCm39) A626T probably benign Het
Fgd6 A G 10: 93,879,373 (GRCm39) T76A probably benign Het
Fndc7 A G 3: 108,788,640 (GRCm39) probably null Het
Gabrg2 T A 11: 41,811,261 (GRCm39) I295F probably damaging Het
Gm10406 A T 14: 7,027,359 (GRCm38) probably null Het
Gm47189 T C 14: 41,492,059 (GRCm39) M73V probably benign Het
Gm9758 A T 5: 14,963,667 (GRCm39) S54T probably damaging Het
Gm9857 A G 3: 108,847,554 (GRCm39) S70P unknown Het
Gsap A T 5: 21,458,427 (GRCm39) E470D probably damaging Het
Hesx1 T A 14: 26,722,678 (GRCm39) M1K probably null Het
Hirip3 A G 7: 126,463,235 (GRCm39) D397G probably damaging Het
Kalrn T A 16: 33,983,447 (GRCm39) N13I probably benign Het
Mrps35 T G 6: 146,957,491 (GRCm39) probably null Het
Myrfl G T 10: 116,697,448 (GRCm39) N25K probably damaging Het
Or51b6b C A 7: 103,310,020 (GRCm39) G146C probably damaging Het
Or7a41 A G 10: 78,871,287 (GRCm39) Y219C probably damaging Het
Or9k2b A T 10: 130,016,626 (GRCm39) I41N possibly damaging Het
Phf14 A T 6: 11,933,340 (GRCm39) E67D unknown Het
Prdm16 C T 4: 154,613,094 (GRCm39) G111D probably damaging Het
Prex1 G A 2: 166,412,291 (GRCm39) A1568V probably damaging Het
Ptpn23 G A 9: 110,214,325 (GRCm39) T1692I unknown Het
Ptprb C T 10: 116,204,671 (GRCm39) S1835L probably damaging Het
Rbm19 G A 5: 120,254,532 (GRCm39) probably benign Het
Rgs7bp T A 13: 105,119,382 (GRCm39) H152L possibly damaging Het
Rmdn3 A T 2: 118,969,849 (GRCm39) L404Q probably damaging Het
Rock2 T A 12: 17,023,144 (GRCm39) F1148I probably benign Het
Runx2 G A 17: 45,125,079 (GRCm39) P80L probably damaging Het
Sec24c C A 14: 20,739,401 (GRCm39) H559N probably damaging Het
Sephs2 T C 7: 126,872,992 (GRCm39) S34G probably benign Het
Serpina6 A T 12: 103,613,203 (GRCm39) S366T probably benign Het
Serpinb7 A T 1: 107,378,052 (GRCm39) E248D probably benign Het
Sesn1 G T 10: 41,779,724 (GRCm39) R386L possibly damaging Het
Skida1 T C 2: 18,051,602 (GRCm39) S430G unknown Het
Slc28a2 A T 2: 122,282,462 (GRCm39) probably null Het
Slc39a8 T C 3: 135,563,299 (GRCm39) F203S possibly damaging Het
Svip A G 7: 51,653,177 (GRCm39) S46P possibly damaging Het
Tbx21 T A 11: 96,989,923 (GRCm39) D423V probably benign Het
Tcirg1 G A 19: 3,953,576 (GRCm39) A117V probably null Het
Tmem63b T A 17: 45,984,094 (GRCm39) K258N probably benign Het
Tmem94 A G 11: 115,685,600 (GRCm39) N951S probably damaging Het
Uba2 G T 7: 33,840,854 (GRCm39) D591E probably benign Het
Unc13b C T 4: 43,258,893 (GRCm39) R1356W probably damaging Het
Wasf3 A G 5: 146,403,615 (GRCm39) T242A probably benign Het
Wscd1 T C 11: 71,650,709 (GRCm39) L12P probably damaging Het
Zfp770 T C 2: 114,027,872 (GRCm39) K66E probably damaging Het
Zfyve26 A T 12: 79,315,182 (GRCm39) D1431E probably benign Het
Zhx2 G A 15: 57,686,746 (GRCm39) R705H probably benign Het
Other mutations in Mettl8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00795:Mettl8 APN 2 70,812,434 (GRCm39) missense probably damaging 1.00
IGL01370:Mettl8 APN 2 70,812,383 (GRCm39) missense probably damaging 1.00
R1709:Mettl8 UTSW 2 70,812,495 (GRCm39) missense probably benign 0.02
R1944:Mettl8 UTSW 2 70,803,623 (GRCm39) missense probably damaging 1.00
R5107:Mettl8 UTSW 2 70,795,901 (GRCm39) missense probably damaging 1.00
R5278:Mettl8 UTSW 2 70,803,641 (GRCm39) missense probably damaging 1.00
R5629:Mettl8 UTSW 2 70,795,913 (GRCm39) missense probably benign
R5864:Mettl8 UTSW 2 70,812,357 (GRCm39) missense probably benign 0.10
R6272:Mettl8 UTSW 2 70,806,419 (GRCm39) splice site probably null
R6402:Mettl8 UTSW 2 70,796,805 (GRCm39) nonsense probably null
R6535:Mettl8 UTSW 2 70,803,733 (GRCm39) missense possibly damaging 0.73
R7288:Mettl8 UTSW 2 70,812,382 (GRCm39) missense probably benign 0.01
R7409:Mettl8 UTSW 2 70,803,687 (GRCm39) missense probably damaging 1.00
R7498:Mettl8 UTSW 2 70,795,969 (GRCm39) missense probably damaging 0.98
R7639:Mettl8 UTSW 2 70,812,526 (GRCm39) missense probably benign
R7789:Mettl8 UTSW 2 70,796,806 (GRCm39) missense probably damaging 1.00
R7795:Mettl8 UTSW 2 70,812,243 (GRCm39) missense probably benign
R8934:Mettl8 UTSW 2 70,882,062 (GRCm39) unclassified probably benign
R9600:Mettl8 UTSW 2 70,812,383 (GRCm39) missense possibly damaging 0.46
X0062:Mettl8 UTSW 2 70,812,318 (GRCm39) missense probably benign 0.33
Z1177:Mettl8 UTSW 2 70,803,682 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGTGCGCTAAGTAATAAATTCAGGG -3'
(R):5'- TCTCACTGACCCAAGAACGG -3'

Sequencing Primer
(F):5'- GCTTTGATAGTTCTAAAAACCAGGAC -3'
(R):5'- AGTCTGCTAACTCCTGCT -3'
Posted On 2019-06-26