Incidental Mutation 'R5488:Mettl21e'
ID 430436
Institutional Source Beutler Lab
Gene Symbol Mettl21e
Ensembl Gene ENSMUSG00000046828
Gene Name methyltransferase like 21E
Synonyms 4832428D23Rik, LOC381340
MMRRC Submission 043049-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.143) question?
Stock # R5488 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 44243230-44258121 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 44257276 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 14 (Y14C)
Ref Sequence ENSEMBL: ENSMUSP00000056481 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054801]
AlphaFold Q8CDZ2
Predicted Effect probably benign
Transcript: ENSMUST00000054801
AA Change: Y14C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000056481
Gene: ENSMUSG00000046828
AA Change: Y14C

DomainStartEndE-ValueType
Pfam:Methyltransf_16 49 217 3.9e-35 PFAM
Pfam:PrmA 74 225 7.1e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150062
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161563
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.2%
  • 3x: 97.2%
  • 10x: 95.1%
  • 20x: 90.5%
Validation Efficiency 97% (58/60)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 T A 7: 119,851,473 (GRCm39) V817D probably damaging Het
Abca5 A G 11: 110,183,009 (GRCm39) V1016A probably benign Het
Ano2 G T 6: 126,016,216 (GRCm39) M916I possibly damaging Het
Aqr T C 2: 113,963,554 (GRCm39) N632S probably damaging Het
Cd48 G A 1: 171,523,273 (GRCm39) V39I possibly damaging Het
Cdcp3 A G 7: 130,848,324 (GRCm39) D710G probably damaging Het
Cdk17 A G 10: 93,068,274 (GRCm39) T344A probably damaging Het
Chd8 A T 14: 52,450,505 (GRCm39) probably benign Het
Col4a1 A T 8: 11,362,550 (GRCm39) probably benign Het
Col9a3 G A 2: 180,258,318 (GRCm39) R579H probably damaging Het
Cripto G A 9: 110,772,265 (GRCm39) R44C probably benign Het
Cyp2c69 T G 19: 39,839,603 (GRCm39) Q340P probably null Het
D630003M21Rik T A 2: 158,058,941 (GRCm39) T320S probably benign Het
D630045J12Rik A T 6: 38,173,782 (GRCm39) S129T possibly damaging Het
Eif4a3l1 C G 6: 136,306,555 (GRCm39) R339G probably damaging Het
Fam13a A T 6: 59,001,303 (GRCm39) L8Q probably null Het
Fam83b T C 9: 76,452,881 (GRCm39) N62S probably benign Het
Foxred1 A T 9: 35,121,266 (GRCm39) V94E probably damaging Het
Gprc5a T C 6: 135,055,868 (GRCm39) V105A probably damaging Het
Gvin3 T A 7: 106,200,797 (GRCm39) noncoding transcript Het
Itga2 A T 13: 114,979,971 (GRCm39) W1077R probably damaging Het
Kat6b A G 14: 21,719,332 (GRCm39) D1228G probably damaging Het
Kctd3 A G 1: 188,713,563 (GRCm39) Y391H probably damaging Het
Kdelr2 T A 5: 143,389,784 (GRCm39) I23N probably damaging Het
Kmt2a A T 9: 44,752,335 (GRCm39) probably benign Het
Lao1 A G 4: 118,824,566 (GRCm39) E216G probably damaging Het
Mark4 G T 7: 19,163,532 (GRCm39) probably null Het
Mcm10 A G 2: 4,996,929 (GRCm39) W851R probably damaging Het
Miga1 CACAACAACAACAACAACA CACAACAACAACAACA 3: 152,039,083 (GRCm39) probably benign Het
Mmp20 A G 9: 7,643,958 (GRCm39) probably null Het
Nlrp5 A T 7: 23,117,359 (GRCm39) D361V probably benign Het
Nrip3 T C 7: 109,361,045 (GRCm39) T210A probably damaging Het
Or12d2 T C 17: 37,624,559 (GRCm39) T239A probably damaging Het
Or52s1b T C 7: 102,822,658 (GRCm39) Y62C probably damaging Het
Pcdh10 G A 3: 45,335,803 (GRCm39) G706S probably damaging Het
Pdzd2 G A 15: 12,382,762 (GRCm39) P1197L probably benign Het
Pfkfb3 T C 2: 11,489,480 (GRCm39) S273G probably benign Het
Pkn3 T C 2: 29,978,596 (GRCm39) probably null Het
Rab40c G A 17: 26,109,643 (GRCm39) T78I probably damaging Het
Rec8 A T 14: 55,860,283 (GRCm39) Q291L probably benign Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Sart3 A G 5: 113,909,441 (GRCm39) W86R probably damaging Het
Slc6a11 A G 6: 114,220,855 (GRCm39) D462G probably damaging Het
Syne2 A G 12: 75,934,946 (GRCm39) T143A probably benign Het
Tardbp A G 4: 148,703,097 (GRCm39) F289S probably benign Het
Tdpoz1 T A 3: 93,577,974 (GRCm39) Y270F possibly damaging Het
Tmem117 ACCC ACC 15: 94,992,698 (GRCm39) probably null Het
Trim43a A T 9: 88,464,229 (GRCm39) I47F probably damaging Het
Vim A T 2: 13,580,392 (GRCm39) T202S probably benign Het
Vps13b A T 15: 35,770,688 (GRCm39) I2044L probably benign Het
Wdr5 T G 2: 27,415,165 (GRCm39) D192E probably damaging Het
Zmym2 A G 14: 57,193,712 (GRCm39) K1176E possibly damaging Het
Other mutations in Mettl21e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00660:Mettl21e APN 1 44,245,530 (GRCm39) missense possibly damaging 0.80
IGL01878:Mettl21e APN 1 44,250,193 (GRCm39) missense probably null 1.00
IGL02194:Mettl21e APN 1 44,250,343 (GRCm39) missense probably benign
IGL03032:Mettl21e APN 1 44,249,319 (GRCm39) splice site probably null
IGL03396:Mettl21e APN 1 44,245,759 (GRCm39) missense possibly damaging 0.67
R0165:Mettl21e UTSW 1 44,250,283 (GRCm39) missense probably damaging 1.00
R0363:Mettl21e UTSW 1 44,250,190 (GRCm39) critical splice donor site probably null
R0525:Mettl21e UTSW 1 44,245,542 (GRCm39) missense probably damaging 0.98
R2078:Mettl21e UTSW 1 44,245,662 (GRCm39) missense possibly damaging 0.80
R2143:Mettl21e UTSW 1 44,249,398 (GRCm39) missense probably benign 0.06
R3623:Mettl21e UTSW 1 44,245,857 (GRCm39) missense probably damaging 0.99
R3870:Mettl21e UTSW 1 44,245,524 (GRCm39) missense probably benign 0.01
R4780:Mettl21e UTSW 1 44,250,303 (GRCm39) missense probably benign
R5654:Mettl21e UTSW 1 44,250,255 (GRCm39) missense probably damaging 1.00
R6490:Mettl21e UTSW 1 44,249,425 (GRCm39) missense probably damaging 0.97
R6697:Mettl21e UTSW 1 44,249,327 (GRCm39) missense probably damaging 1.00
R6804:Mettl21e UTSW 1 44,257,295 (GRCm39) missense probably benign 0.01
R6862:Mettl21e UTSW 1 44,245,526 (GRCm39) missense probably benign 0.00
R7282:Mettl21e UTSW 1 44,249,399 (GRCm39) missense probably damaging 0.98
R7870:Mettl21e UTSW 1 44,249,371 (GRCm39) missense probably damaging 1.00
R8054:Mettl21e UTSW 1 44,245,815 (GRCm39) missense probably damaging 1.00
R8492:Mettl21e UTSW 1 44,245,553 (GRCm39) missense probably damaging 1.00
R9481:Mettl21e UTSW 1 44,245,857 (GRCm39) missense probably benign 0.01
R9507:Mettl21e UTSW 1 44,245,536 (GRCm39) missense probably benign 0.05
R9641:Mettl21e UTSW 1 44,250,351 (GRCm39) missense probably benign 0.01
Z1177:Mettl21e UTSW 1 44,245,710 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCCTAAATTCATCTTTCATCCAAAC -3'
(R):5'- GTAGACCTTTGCCTGGGTGC -3'

Sequencing Primer
(F):5'- GATCTCTCACTCAAACTTCTTA -3'
(R):5'- CTGGGTGCTGTGGACACATAAAG -3'
Posted On 2016-10-05