Incidental Mutation 'R2443:Methig1'
ID 249885
Institutional Source Beutler Lab
Gene Symbol Methig1
Ensembl Gene ENSMUSG00000093789
Gene Name methyltransferase hypoxia inducible domain containing 1
Synonyms Mettl7a2-Higd1c, UbiE-YGHL1, Mettl7a2Higd1c, UbiE2-Hig1-4, AB099516
MMRRC Submission 040401-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.129) question?
Stock # R2443 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 100251081-100282316 bp(+) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) T to C at 100251092 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 1 (M1T)
Ref Sequence ENSEMBL: ENSMUSP00000135213 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075675] [ENSMUST00000088142] [ENSMUST00000175929] [ENSMUST00000176287]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000075675
AA Change: M1T

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000075098
Gene: ENSMUSG00000093789
AA Change: M1T

DomainStartEndE-ValueType
transmembrane domain 10 32 N/A INTRINSIC
Pfam:Ubie_methyltran 45 175 3.6e-7 PFAM
Pfam:Methyltransf_23 48 168 2.4e-14 PFAM
Pfam:Methyltransf_31 68 188 3e-12 PFAM
Pfam:Methyltransf_25 74 167 7.5e-11 PFAM
Pfam:Methyltransf_12 75 167 6.2e-14 PFAM
Pfam:Methyltransf_11 75 168 7e-20 PFAM
Pfam:HIG_1_N 192 244 1.2e-18 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000088142
AA Change: M1T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000085467
Gene: ENSMUSG00000056487
AA Change: M1T

DomainStartEndE-ValueType
Pfam:Ubie_methyltran 45 198 4.5e-11 PFAM
Pfam:Methyltransf_23 49 222 2.7e-19 PFAM
Pfam:Methyltransf_31 68 225 5.1e-16 PFAM
Pfam:Methyltransf_18 70 175 8e-11 PFAM
Pfam:Methyltransf_25 74 168 4e-12 PFAM
Pfam:Methyltransf_12 75 170 8.6e-16 PFAM
Pfam:Methyltransf_11 75 172 1.1e-23 PFAM
Pfam:Methyltransf_8 117 240 5.5e-9 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000175929
AA Change: M1T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000135002
Gene: ENSMUSG00000093789
AA Change: M1T

DomainStartEndE-ValueType
transmembrane domain 10 32 N/A INTRINSIC
Pfam:Ubie_methyltran 44 178 7e-8 PFAM
Pfam:Methyltransf_23 48 177 8.6e-15 PFAM
Pfam:Methyltransf_31 68 177 1.9e-12 PFAM
Pfam:Methyltransf_18 70 173 5e-9 PFAM
Pfam:Methyltransf_25 74 167 4.5e-11 PFAM
Pfam:Methyltransf_11 75 167 6e-21 PFAM
Pfam:Methyltransf_12 75 167 4.7e-14 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000176287
AA Change: M1T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000135213
Gene: ENSMUSG00000056487
AA Change: M1T

DomainStartEndE-ValueType
Pfam:Ubie_methyltran 45 197 3.3e-8 PFAM
Pfam:Methyltransf_23 49 222 2e-16 PFAM
Pfam:Methyltransf_31 68 225 9.8e-14 PFAM
Pfam:Methyltransf_18 70 175 3.1e-9 PFAM
Pfam:Methyltransf_25 74 167 1.1e-10 PFAM
Pfam:Methyltransf_12 75 167 1.1e-13 PFAM
Pfam:Methyltransf_11 75 172 1e-20 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anapc13 C T 9: 102,511,222 (GRCm39) P37S probably damaging Het
Asxl3 T A 18: 22,544,596 (GRCm39) D39E probably benign Het
Cfap91 A G 16: 38,123,094 (GRCm39) Y645H probably damaging Het
Clec4d G A 6: 123,245,076 (GRCm39) V119M probably benign Het
Dennd11 T C 6: 40,383,710 (GRCm39) D444G probably damaging Het
Dlx2 A G 2: 71,376,349 (GRCm39) S130P probably benign Het
Dync2li1 C A 17: 84,955,093 (GRCm39) Q251K probably benign Het
Edem1 A T 6: 108,828,230 (GRCm39) K518N probably benign Het
Elapor1 A T 3: 108,388,665 (GRCm39) N239K probably damaging Het
Fbln2 T C 6: 91,236,693 (GRCm39) V736A probably damaging Het
Fga A G 3: 82,935,848 (GRCm39) K25R probably benign Het
Hmcn1 C A 1: 150,474,783 (GRCm39) R4701S probably benign Het
Ighv8-5 G A 12: 115,031,440 (GRCm39) P33L probably damaging Het
Kcnip3 T A 2: 127,301,983 (GRCm39) I194F probably damaging Het
Kif26b A C 1: 178,742,579 (GRCm39) I892L probably damaging Het
Krt78 C T 15: 101,855,033 (GRCm39) G926E probably damaging Het
Map1b T C 13: 99,566,919 (GRCm39) Y1934C unknown Het
Masp1 A T 16: 23,295,062 (GRCm39) Y400N probably damaging Het
Mmp19 A G 10: 128,634,725 (GRCm39) E447G possibly damaging Het
Ms4a6d G A 19: 11,567,557 (GRCm39) H115Y possibly damaging Het
Myo1e C T 9: 70,234,454 (GRCm39) S269L probably benign Het
Myo7a G A 7: 97,744,976 (GRCm39) T288I probably benign Het
Npy5r T A 8: 67,133,942 (GRCm39) K284* probably null Het
Oas3 C A 5: 120,915,553 (GRCm39) R46L probably benign Het
Or5l14 A T 2: 87,793,209 (GRCm39) V9E possibly damaging Het
Pkd1l3 T A 8: 110,350,447 (GRCm39) S431T probably benign Het
Pnpla2 T C 7: 141,037,982 (GRCm39) V184A possibly damaging Het
Pomt2 C A 12: 87,180,154 (GRCm39) K282N probably damaging Het
Psmd12 T A 11: 107,386,563 (GRCm39) M378K probably damaging Het
Sla2 G A 2: 156,717,862 (GRCm39) R137C probably damaging Het
Strn3 A T 12: 51,674,618 (GRCm39) Y389N probably damaging Het
Tdrd1 C T 19: 56,829,786 (GRCm39) A220V probably null Het
Tecpr2 T G 12: 110,862,759 (GRCm39) L57R probably damaging Het
Tkfc A G 19: 10,571,902 (GRCm39) L378P probably damaging Het
Tmprss2 T G 16: 97,369,703 (GRCm39) D357A possibly damaging Het
Tollip C T 7: 141,444,560 (GRCm39) W64* probably null Het
Vcan A G 13: 89,852,794 (GRCm39) F722S probably damaging Het
Vcp A T 4: 42,983,385 (GRCm39) N558K probably damaging Het
Vmn1r232 A G 17: 21,133,646 (GRCm39) I318T probably damaging Het
Vmn1r33 A T 6: 66,588,957 (GRCm39) I199K possibly damaging Het
Zfp61 A G 7: 23,991,194 (GRCm39) V319A probably benign Het
Zfyve28 A G 5: 34,374,238 (GRCm39) V592A possibly damaging Het
Other mutations in Methig1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0479:Methig1 UTSW 15 100,272,825 (GRCm39) nonsense probably null
R0729:Methig1 UTSW 15 100,272,870 (GRCm39) missense probably benign 0.13
R1727:Methig1 UTSW 15 100,251,130 (GRCm39) missense probably benign 0.38
R2037:Methig1 UTSW 15 100,251,467 (GRCm39) missense probably benign 0.02
R2281:Methig1 UTSW 15 100,251,241 (GRCm39) missense possibly damaging 0.86
R4820:Methig1 UTSW 15 100,251,416 (GRCm39) missense possibly damaging 0.71
R5085:Methig1 UTSW 15 100,251,130 (GRCm39) missense probably damaging 0.98
R5408:Methig1 UTSW 15 100,281,635 (GRCm39) missense possibly damaging 0.91
R6258:Methig1 UTSW 15 100,251,422 (GRCm39) missense possibly damaging 0.77
R7750:Methig1 UTSW 15 100,251,412 (GRCm39) missense probably benign 0.01
R7921:Methig1 UTSW 15 100,251,251 (GRCm39) missense probably benign 0.00
R8469:Methig1 UTSW 15 100,251,130 (GRCm39) missense probably benign 0.38
Predicted Primers PCR Primer
(F):5'- TGGCCTGCAGTTACAAGTTTTC -3'
(R):5'- TGCAGATTGCTGAAGAGCTC -3'

Sequencing Primer
(F):5'- ATAAACTCTTTCTTTGCCAGGGG -3'
(R):5'- AGCTCCCGCTTTAGGCTCG -3'
Posted On 2014-11-12