Incidental Mutation 'R7789:Mettl8'
ID 599712
Institutional Source Beutler Lab
Gene Symbol Mettl8
Ensembl Gene ENSMUSG00000041975
Gene Name methyltransferase 8, methylcytidine
Synonyms TIP
MMRRC Submission 045845-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.880) question?
Stock # R7789 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 70794905-70885927 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 70796806 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 283 (Y283C)
Ref Sequence ENSEMBL: ENSMUSP00000097615 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100037] [ENSMUST00000112179] [ENSMUST00000112186] [ENSMUST00000121586] [ENSMUST00000148876] [ENSMUST00000149181]
AlphaFold A2AUU0
Predicted Effect probably damaging
Transcript: ENSMUST00000100037
AA Change: Y283C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097615
Gene: ENSMUSG00000041975
AA Change: Y283C

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 probably damaging
Transcript: ENSMUST00000112186
AA Change: Y330C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107804
Gene: ENSMUSG00000041975
AA Change: Y330C

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 probably benign
Transcript: ENSMUST00000121586
SMART Domains Protein: ENSMUSP00000113642
Gene: ENSMUSG00000041975

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: Y98C

DomainStartEndE-ValueType
Pfam:Methyltransf_11 2 66 2.2e-8 PFAM
Pfam:Methyltransf_23 3 109 6.3e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000148876
SMART Domains Protein: ENSMUSP00000115855
Gene: ENSMUSG00000041975

DomainStartEndE-ValueType
Pfam:Methyltransf_25 190 281 1.9e-8 PFAM
Pfam:Methyltransf_11 191 280 2.8e-8 PFAM
Predicted Effect probably benign
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: 98.5%
Validation Efficiency 99% (77/78)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik G A 16: 4,682,175 (GRCm39) E163K probably benign Het
Adam34 T A 8: 44,105,488 (GRCm39) R52S probably benign Het
Adcy8 A T 15: 64,743,623 (GRCm39) C328* probably null Het
Ankrd26 G T 6: 118,504,760 (GRCm39) S716R possibly damaging Het
Ankrd26 G T 6: 118,504,759 (GRCm39) H717N probably damaging Het
Ankrd40 C A 11: 94,225,535 (GRCm39) P189T probably damaging Het
Anln A G 9: 22,263,333 (GRCm39) S113P Het
Arid5b C T 10: 67,934,417 (GRCm39) G495E probably benign Het
Asxl1 C T 2: 153,241,943 (GRCm39) T832I probably benign Het
Bicd2 C T 13: 49,533,135 (GRCm39) R574C probably damaging Het
Boll T C 1: 55,399,826 (GRCm39) probably null Het
Casr A G 16: 36,315,653 (GRCm39) F806L probably damaging Het
Casz1 C A 4: 149,013,863 (GRCm39) N142K probably benign Het
Cbl C T 9: 44,074,764 (GRCm39) D433N probably damaging Het
Ceacam14 T A 7: 17,548,096 (GRCm39) V62D probably damaging Het
Chst10 T C 1: 38,923,532 (GRCm39) N18S probably benign Het
Cyp2j6 C T 4: 96,433,953 (GRCm39) R119H probably benign Het
Cyp4a14 C G 4: 115,352,107 (GRCm39) V102L probably benign Het
Dnajb3 A T 1: 88,133,399 (GRCm39) M1K probably null Het
Dnajc6 A T 4: 101,475,729 (GRCm39) K534M possibly damaging Het
Dnase2a T C 8: 85,635,505 (GRCm39) probably null Het
Dock10 A G 1: 80,536,930 (GRCm39) I985T possibly damaging Het
Emsy G T 7: 98,270,696 (GRCm39) P436Q probably damaging Het
Enpp1 A T 10: 24,529,981 (GRCm39) probably null Het
Erc1 T A 6: 119,750,670 (GRCm39) R353* probably null Het
Fbn2 T A 18: 58,172,385 (GRCm39) D2140V probably benign Het
Fgfr1 T A 8: 26,052,329 (GRCm39) Y218* probably null Het
Fhod1 C T 8: 106,056,740 (GRCm39) R1045H probably damaging Het
Focad G T 4: 88,147,643 (GRCm39) L427F unknown Het
Gbf1 T A 19: 46,242,441 (GRCm39) L144M probably damaging Het
Glmn T G 5: 107,696,941 (GRCm39) N592T probably benign Het
Golgb1 C G 16: 36,695,761 (GRCm39) P87A unknown Het
H2bw2 G A X: 135,828,471 (GRCm39) R120K unknown Het
Insyn2b T A 11: 34,352,537 (GRCm39) M193K probably benign Het
Itga9 T G 9: 118,487,564 (GRCm39) F216V possibly damaging Het
Klhl18 T C 9: 110,268,076 (GRCm39) D149G unknown Het
Lcat C T 8: 106,668,857 (GRCm39) V114M probably benign Het
Lrrc8c C A 5: 105,755,066 (GRCm39) N280K probably damaging Het
Mgat4a A T 1: 37,529,360 (GRCm39) I173K probably damaging Het
Mmp1a T C 9: 7,475,266 (GRCm39) V345A possibly damaging Het
Mok T A 12: 110,778,261 (GRCm39) H215L probably damaging Het
Mphosph9 C G 5: 124,453,650 (GRCm39) E221Q probably damaging Het
Muc4 C G 16: 32,575,221 (GRCm39) Q1269E probably benign Het
Mug1 C A 6: 121,838,179 (GRCm39) H470N possibly damaging Het
Myom1 A G 17: 71,424,431 (GRCm39) T1525A probably benign Het
Nap1l1 C T 10: 111,326,317 (GRCm39) S143L probably benign Het
Or1af1 C T 2: 37,109,672 (GRCm39) T57I probably benign Het
Or2j6 A T 7: 139,980,610 (GRCm39) Y116* probably null Het
Or52d1 T A 7: 103,756,195 (GRCm39) S236R probably damaging Het
Or7g29 G T 9: 19,286,361 (GRCm39) T272K probably benign Het
Plbd2 T C 5: 120,623,819 (GRCm39) S568G probably damaging Het
Plxna4 T A 6: 32,183,168 (GRCm39) probably null Het
Plxnc1 T A 10: 94,630,339 (GRCm39) E1520V probably damaging Het
Ppil3 G A 1: 58,473,538 (GRCm39) T104I possibly damaging Het
Ptprm A T 17: 67,402,534 (GRCm39) V118E probably damaging Het
Rimbp2 T C 5: 128,851,399 (GRCm39) D849G probably damaging Het
Rnf213 T C 11: 119,361,045 (GRCm39) probably null Het
Sema3f T A 9: 107,582,631 (GRCm39) K37N probably benign Het
Sh3glb1 G T 3: 144,397,892 (GRCm39) probably null Het
Sh3rf3 A G 10: 58,922,637 (GRCm39) D571G probably benign Het
Sipa1l3 T C 7: 29,077,150 (GRCm39) Y874C probably damaging Het
Smchd1 G A 17: 71,782,296 (GRCm39) probably benign Het
Snrnp70 A T 7: 45,026,045 (GRCm39) Y441* probably null Het
Ssrp1 C T 2: 84,871,525 (GRCm39) R316W probably damaging Het
Syt10 A T 15: 89,711,101 (GRCm39) V144E probably damaging Het
Tdrd12 A G 7: 35,188,117 (GRCm39) L562P Het
Trim68 T C 7: 102,333,676 (GRCm39) D2G possibly damaging Het
Trub2 T A 2: 29,667,920 (GRCm39) H240L probably damaging Het
Tssc4 A G 7: 142,623,515 (GRCm39) probably null Het
Usp7 T A 16: 8,516,675 (GRCm39) Q539L probably benign Het
Vmn2r17 T A 5: 109,600,831 (GRCm39) C710S possibly damaging Het
Vmn2r99 G T 17: 19,614,079 (GRCm39) V600F possibly damaging Het
Vps13d C T 4: 144,826,635 (GRCm39) V2879M Het
Vrtn T A 12: 84,697,080 (GRCm39) M610K probably benign Het
Xpo4 T C 14: 57,850,806 (GRCm39) E366G probably benign Het
Zyg11a G A 4: 108,040,845 (GRCm39) P703S probably damaging 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
R7181:Mettl8 UTSW 2 70,803,706 (GRCm39) missense possibly damaging 0.79
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
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'- TGTGGCACTATTGTGAGTACC -3'
(R):5'- TGCTCAGCTTCGTTTTAAGAAAGG -3'

Sequencing Primer
(F):5'- CACTATTGTGAGTACCGGGGC -3'
(R):5'- GATCTCTGAGTTCAAGGCTAGCC -3'
Posted On 2019-11-26