Incidental Mutation 'R7795:Mettl8'
ID 600158
Institutional Source Beutler Lab
Gene Symbol Mettl8
Ensembl Gene ENSMUSG00000041975
Gene Name methyltransferase 8, methylcytidine
Synonyms TIP
MMRRC Submission 045851-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.880) question?
Stock # R7795 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 70794905-70885927 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 70812243 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 131 (T131A)
Ref Sequence ENSEMBL: ENSMUSP00000097615 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090849] [ENSMUST00000100037] [ENSMUST00000112179] [ENSMUST00000112186] [ENSMUST00000121586] [ENSMUST00000148876] [ENSMUST00000149181]
AlphaFold A2AUU0
Predicted Effect probably benign
Transcript: ENSMUST00000090849
AA Change: T102A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
Predicted Effect probably benign
Transcript: ENSMUST00000100037
AA Change: T131A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000097615
Gene: ENSMUSG00000041975
AA Change: T131A

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
AA Change: T178A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000107800
Gene: ENSMUSG00000041975
AA Change: T178A

DomainStartEndE-ValueType
low complexity region 190 206 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112186
AA Change: T178A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000107804
Gene: ENSMUSG00000041975
AA Change: T178A

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
AA Change: T178A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113642
Gene: ENSMUSG00000041975
AA Change: T178A

DomainStartEndE-ValueType
Pfam:Methyltransf_25 190 279 1.4e-6 PFAM
Pfam:Methyltransf_11 191 280 5.6e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000148876
AA Change: T178A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000115855
Gene: ENSMUSG00000041975
AA Change: T178A

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
AA Change: T96A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000119863
Gene: ENSMUSG00000041975
AA Change: T96A

DomainStartEndE-ValueType
SCOP:d1af7_2 107 137 7e-3 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankle1 T C 8: 71,861,337 (GRCm39) S391P probably damaging Het
Ankmy1 T C 1: 92,811,570 (GRCm39) Q606R probably benign Het
Bmf A G 2: 118,377,358 (GRCm39) L130P probably damaging Het
Ccdc88c G A 12: 100,889,570 (GRCm39) T1491I probably benign Het
Cyp2c69 G A 19: 39,864,663 (GRCm39) R272C probably benign Het
Defa27 A G 8: 21,806,354 (GRCm39) N78S probably benign Het
Depdc5 T A 5: 33,101,447 (GRCm39) D912E probably damaging Het
Dsc3 C T 18: 20,099,288 (GRCm39) D743N probably damaging Het
Epcam T C 17: 87,950,983 (GRCm39) V190A probably benign Het
Exoc2 G A 13: 31,060,756 (GRCm39) R583* probably null Het
Extl1 T A 4: 134,091,990 (GRCm39) I288F probably damaging Het
Fam50b G A 13: 34,931,084 (GRCm39) E187K possibly damaging Het
Fcer2a T A 8: 3,732,910 (GRCm39) Y299F probably benign Het
Frmd4a G A 2: 4,595,506 (GRCm39) G439R probably damaging Het
Gal3st4 T C 5: 138,269,100 (GRCm39) H120R probably benign Het
Grid1 C A 14: 35,043,642 (GRCm39) N332K probably damaging Het
Igkv4-68 A G 6: 69,281,896 (GRCm39) Y92H probably damaging Het
Itga1 T C 13: 115,148,772 (GRCm39) E283G probably damaging Het
Ldlrad1 G A 4: 107,066,688 (GRCm39) A8T probably benign Het
Lrrc24 A G 15: 76,602,248 (GRCm39) L169P probably benign Het
Mcidas G A 13: 113,135,521 (GRCm39) G315S probably damaging Het
Miip C T 4: 147,947,375 (GRCm39) G236S probably benign Het
Nbr1 T A 11: 101,460,154 (GRCm39) D383E probably damaging Het
Neto1 A T 18: 86,479,198 (GRCm39) K167N probably benign Het
Nkx6-1 A T 5: 101,811,628 (GRCm39) L158Q unknown Het
Nlrp5 G A 7: 23,118,219 (GRCm39) V648M possibly damaging Het
Nvl G T 1: 180,924,722 (GRCm39) Q811K probably benign Het
Or13a21 A G 7: 139,999,027 (GRCm39) F220L possibly damaging Het
Or13p3 C A 4: 118,566,855 (GRCm39) H84N possibly damaging Het
Or1j10 A G 2: 36,267,453 (GRCm39) T222A probably benign Het
Or3a1c T A 11: 74,046,844 (GRCm39) L288Q probably damaging Het
Pccb T C 9: 100,881,316 (GRCm39) Y224C probably damaging Het
Pcdh10 T C 3: 45,334,657 (GRCm39) Y324H probably benign Het
Pecam1 C A 11: 106,586,658 (GRCm39) E286* probably null Het
Prl7d1 A T 13: 27,893,263 (GRCm39) L215Q probably damaging Het
Ranbp2 T A 10: 58,319,729 (GRCm39) Y2514* probably null Het
Rgs11 A G 17: 26,426,552 (GRCm39) H261R possibly damaging Het
Samd15 A G 12: 87,247,506 (GRCm39) T64A probably benign Het
Shc4 T A 2: 125,565,285 (GRCm39) S5C probably damaging Het
Shroom3 G A 5: 93,067,508 (GRCm39) V109M probably damaging Het
Spata13 T C 14: 60,929,291 (GRCm39) I283T possibly damaging Het
Sptbn2 C G 19: 4,799,040 (GRCm39) R2037G probably benign Het
Synj2bp G A 12: 81,548,922 (GRCm39) P106S probably benign Het
Tasor T C 14: 27,203,340 (GRCm39) S289P Het
Thoc1 T C 18: 9,986,300 (GRCm39) V344A probably damaging Het
Vmn1r71 A G 7: 10,482,136 (GRCm39) L184S probably damaging Het
Vps45 A G 3: 95,926,936 (GRCm39) I537T 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
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
R7789:Mettl8 UTSW 2 70,796,806 (GRCm39) missense probably damaging 1.00
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'- GCCACAAGCTTAAAACTTGACTG -3'
(R):5'- TTGAGGGAATTTCCTGAAATCCTTC -3'

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