Incidental Mutation 'R7750:Methig1'
ID 597179
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 045806-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.129) question?
Stock # R7750 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 100251081-100282316 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 100251412 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 108 (F108L)
Ref Sequence ENSEMBL: ENSMUSP00000075098 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075675] [ENSMUST00000088142] [ENSMUST00000175929] [ENSMUST00000176287]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000075675
AA Change: F108L

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000075098
Gene: ENSMUSG00000093789
AA Change: F108L

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 benign
Transcript: ENSMUST00000088142
AA Change: F108L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000085467
Gene: ENSMUSG00000056487
AA Change: F108L

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 benign
Transcript: ENSMUST00000175929
AA Change: F108L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000135002
Gene: ENSMUSG00000093789
AA Change: F108L

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 benign
Transcript: ENSMUST00000176287
AA Change: F108L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000135213
Gene: ENSMUSG00000056487
AA Change: F108L

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (56/56)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T A 6: 23,075,199 (GRCm39) D816V possibly damaging Het
Abca16 A T 7: 120,113,928 (GRCm39) N933I probably benign Het
Acly A T 11: 100,368,839 (GRCm39) probably null Het
Acox1 C T 11: 116,074,406 (GRCm39) G105D possibly damaging Het
Ankrd24 A G 10: 81,482,628 (GRCm39) E939G possibly damaging Het
Bard1 T A 1: 71,106,101 (GRCm39) probably null Het
Brd4 G T 17: 32,432,521 (GRCm39) N579K unknown Het
C1qc T C 4: 136,617,592 (GRCm39) Y168C probably damaging Het
Casp6 A G 3: 129,705,858 (GRCm39) D175G probably damaging Het
Ccdc83 A T 7: 89,873,190 (GRCm39) Y388* probably null Het
Clasrp A T 7: 19,318,516 (GRCm39) *628R probably null Het
Cox4i1 A G 8: 121,400,049 (GRCm39) I111V probably benign Het
Cpvl T A 6: 53,903,886 (GRCm39) D293V probably damaging Het
Epb41l4b C T 4: 57,076,913 (GRCm39) probably null Het
Frem2 C A 3: 53,431,103 (GRCm39) L2743F possibly damaging Het
Frmd4a A T 2: 4,606,160 (GRCm39) H628L probably benign Het
Fyb1 A G 15: 6,690,184 (GRCm39) D809G probably damaging Het
Gm19410 T A 8: 36,274,652 (GRCm39) M1491K possibly damaging Het
Gm3604 G A 13: 62,517,810 (GRCm39) H183Y possibly damaging Het
H1f7 A G 15: 98,154,565 (GRCm39) S195P unknown Het
Lama2 T C 10: 26,866,920 (GRCm39) Y2858C probably damaging Het
Mfsd4b5 A G 10: 39,846,251 (GRCm39) V443A probably damaging Het
Muc5ac G C 7: 141,363,040 (GRCm39) G2117A unknown Het
Myh9 C T 15: 77,667,610 (GRCm39) V608I probably benign Het
Myo1g T C 11: 6,464,849 (GRCm39) D475G probably damaging Het
Neb A C 2: 52,170,728 (GRCm39) probably null Het
Nlrp1b T A 11: 71,059,665 (GRCm39) I769F probably benign Het
Nol8 G T 13: 49,815,742 (GRCm39) V617F possibly damaging Het
Or2d2b A T 7: 106,705,740 (GRCm39) C109* probably null Het
Pik3r2 A G 8: 71,223,545 (GRCm39) F346S probably damaging Het
Pou3f3 T A 1: 42,737,308 (GRCm39) F335I probably damaging Het
Ppp1r3e T C 14: 55,114,084 (GRCm39) D196G probably damaging Het
Prpf40a T C 2: 53,041,757 (GRCm39) T545A probably damaging Het
Rictor C T 15: 6,801,635 (GRCm39) S441L probably benign Het
Rprd1a T A 18: 24,641,311 (GRCm39) K102* probably null Het
Sim1 A G 10: 50,772,131 (GRCm39) T47A possibly damaging Het
Slc45a1 C T 4: 150,728,498 (GRCm39) A102T probably damaging Het
Slc6a11 C T 6: 114,207,098 (GRCm39) P361S possibly damaging Het
Slc9b2 T C 3: 135,031,998 (GRCm39) F286S probably damaging Het
Slco4a1 T C 2: 180,113,030 (GRCm39) S421P probably benign Het
Snap91 A C 9: 86,680,762 (GRCm39) probably null Het
Sppl2a A G 2: 126,761,625 (GRCm39) L293P probably damaging Het
Sval3 T A 6: 41,949,360 (GRCm39) I66K possibly damaging Het
Synj2bp T C 12: 81,551,311 (GRCm39) I85V probably benign Het
Thop1 G T 10: 80,916,025 (GRCm39) A403S probably benign Het
Timd4 T A 11: 46,706,354 (GRCm39) M52K probably damaging Het
Tmco5b A G 2: 113,118,609 (GRCm39) N111D probably damaging Het
Trip10 G A 17: 57,568,667 (GRCm39) V419I possibly damaging Het
Trpv3 T C 11: 73,176,847 (GRCm39) Y409H probably damaging Het
Tulp4 A G 17: 6,283,399 (GRCm39) T1143A probably damaging Het
Ugt2b5 A T 5: 87,288,108 (GRCm39) S20T probably benign Het
Unc5b A G 10: 60,610,823 (GRCm39) F406L probably benign Het
Usf3 A G 16: 44,040,884 (GRCm39) E1788G probably benign Het
Usp45 A G 4: 21,780,430 (GRCm39) D27G probably damaging Het
Vmn2r100 G A 17: 19,742,726 (GRCm39) V367I probably benign Het
Vmn2r49 T A 7: 9,710,185 (GRCm39) K849I probably damaging Het
Zfp119b A T 17: 56,245,682 (GRCm39) H501Q probably damaging Het
Zfp462 C A 4: 55,016,958 (GRCm39) H893N probably benign Het
Zkscan4 A G 13: 21,663,525 (GRCm39) E88G probably 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
R2443:Methig1 UTSW 15 100,251,092 (GRCm39) start codon destroyed probably null 1.00
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
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'- TACAATTGGAAGATGGCGAGCC -3'
(R):5'- CCTCACTCATGATAGCTGCAG -3'

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