Incidental Mutation 'R0148:Mettl14'
ID 60863
Institutional Source Beutler Lab
Gene Symbol Mettl14
Ensembl Gene ENSMUSG00000028114
Gene Name methyltransferase 14, N6-adenosine-methyltransferase subunit
Synonyms G430022H21Rik
MMRRC Submission 038432-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0148 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 123161944-123179639 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 123165043 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 316 (T316I)
Ref Sequence ENSEMBL: ENSMUSP00000134198 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029759] [ENSMUST00000090371] [ENSMUST00000174006] [ENSMUST00000174323]
AlphaFold Q3UIK4
Predicted Effect probably damaging
Transcript: ENSMUST00000029759
AA Change: T316I

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000029759
Gene: ENSMUSG00000028114
AA Change: T316I

DomainStartEndE-ValueType
low complexity region 4 23 N/A INTRINSIC
coiled coil region 65 90 N/A INTRINSIC
Pfam:MT-A70 186 363 2.7e-66 PFAM
low complexity region 397 406 N/A INTRINSIC
low complexity region 408 452 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000090371
SMART Domains Protein: ENSMUSP00000087848
Gene: ENSMUSG00000028114

DomainStartEndE-ValueType
low complexity region 4 23 N/A INTRINSIC
coiled coil region 65 90 N/A INTRINSIC
Pfam:MT-A70 186 289 3e-33 PFAM
low complexity region 310 319 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000174006
AA Change: T99I

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000133741
Gene: ENSMUSG00000028114
AA Change: T99I

DomainStartEndE-ValueType
low complexity region 4 13 N/A INTRINSIC
Pfam:MT-A70 28 146 6e-45 PFAM
low complexity region 180 189 N/A INTRINSIC
low complexity region 191 202 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000174323
AA Change: T316I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000134198
Gene: ENSMUSG00000028114
AA Change: T316I

DomainStartEndE-ValueType
low complexity region 4 23 N/A INTRINSIC
coiled coil region 65 90 N/A INTRINSIC
Pfam:MT-A70 186 360 7.3e-63 PFAM
Meta Mutation Damage Score 0.2448 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 96.0%
  • 20x: 91.8%
Validation Efficiency 86% (30/35)
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T C 6: 121,639,405 (GRCm39) probably null Het
Agtr1a T C 13: 30,565,927 (GRCm39) S331P probably benign Het
Ank1 T A 8: 23,613,993 (GRCm39) N1545K probably damaging Het
Bahcc1 A T 11: 120,159,230 (GRCm39) Q152H probably damaging Het
Bend3 T A 10: 43,387,946 (GRCm39) Y780N probably damaging Het
Bod1l G T 5: 41,976,040 (GRCm39) A1758E possibly damaging Het
Ctcfl T C 2: 172,960,340 (GRCm39) D81G possibly damaging Het
Ddx39a C T 8: 84,449,105 (GRCm39) R298C possibly damaging Het
Dock8 T C 19: 25,096,823 (GRCm39) L577P probably benign Het
Drc1 A T 5: 30,486,487 (GRCm39) N13I possibly damaging Het
Efl1 T C 7: 82,320,878 (GRCm39) S104P probably damaging Het
Eml4 T A 17: 83,729,081 (GRCm39) N85K probably damaging Het
Epb41l4a T C 18: 33,931,853 (GRCm39) T581A probably damaging Het
Epha3 T C 16: 63,433,307 (GRCm39) D446G possibly damaging Het
Fam209 G T 2: 172,315,900 (GRCm39) G92C probably damaging Het
Fbln1 G A 15: 85,115,027 (GRCm39) R193H probably damaging Het
Fbxw21 A G 9: 108,977,085 (GRCm39) probably null Het
Fgf17 C T 14: 70,876,313 (GRCm39) R49Q probably damaging Het
Flnb T C 14: 7,939,077 (GRCm38) S2307P probably benign Het
Galr1 A G 18: 82,423,695 (GRCm39) L194P probably benign Het
Gar1 T C 3: 129,623,122 (GRCm39) H89R probably damaging Het
Gbp4 T A 5: 105,267,362 (GRCm39) Y519F probably benign Het
Git1 A G 11: 77,396,554 (GRCm39) T601A probably benign Het
Gm10722 T "C,A" 9: 3,001,405 (GRCm39) probably null Het
Gm5142 C T 14: 59,416,119 (GRCm39) R13H possibly damaging Het
Gria2 A C 3: 80,615,038 (GRCm39) W481G probably damaging Het
Homer2 T C 7: 81,274,026 (GRCm39) T57A probably benign Het
Hpse2 A C 19: 42,920,099 (GRCm39) probably null Het
Hspb7 T C 4: 141,151,302 (GRCm39) I148T probably damaging Het
Htr1d C A 4: 136,170,788 (GRCm39) T339K probably damaging Het
Il4ra T A 7: 125,174,709 (GRCm39) C306S probably damaging Het
Kansl3 A T 1: 36,392,897 (GRCm39) C225S probably damaging Het
Lama3 G A 18: 12,581,329 (GRCm39) C596Y probably damaging Het
Lama5 T C 2: 179,832,199 (GRCm39) H1714R probably benign Het
Marchf6 C T 15: 31,490,758 (GRCm39) V293M probably damaging Het
Med12l A G 3: 58,945,075 (GRCm39) D100G probably damaging Het
Mmp15 A T 8: 96,098,945 (GRCm39) N591Y probably benign Het
Mrpl53 T C 6: 83,086,518 (GRCm39) L74P probably damaging Het
Mvp C T 7: 126,589,037 (GRCm39) V577M probably damaging Het
Neb T C 2: 52,139,388 (GRCm39) K140E probably damaging Het
Nfya A G 17: 48,706,026 (GRCm39) V48A possibly damaging Het
Ngf G T 3: 102,417,119 (GRCm39) probably benign Het
Nipsnap3b C T 4: 53,017,088 (GRCm39) A104V possibly damaging Het
Nlrp14 A G 7: 106,781,928 (GRCm39) Y375C probably benign Het
Nod1 A G 6: 54,915,202 (GRCm39) Y764H probably damaging Het
Or13d1 A T 4: 52,971,232 (GRCm39) I204F probably benign Het
Or2w25 G A 11: 59,504,320 (GRCm39) V177M probably damaging Het
Or7e177 T G 9: 20,212,387 (GRCm39) M297R probably damaging Het
Pcdhb19 A T 18: 37,630,235 (GRCm39) Q10L probably benign Het
Pdcl T C 2: 37,242,142 (GRCm39) I203V probably benign Het
Peg10 C A 6: 4,755,711 (GRCm39) R96S possibly damaging Het
Pknox1 T A 17: 31,823,764 (GRCm39) N379K probably benign Het
Prodh T G 16: 17,895,677 (GRCm39) Q360P probably damaging Het
Raf1 C T 6: 115,609,934 (GRCm39) G202S probably benign Het
Rgs11 T A 17: 26,426,433 (GRCm39) probably null Het
Rilp A T 11: 75,401,059 (GRCm39) H29L probably damaging Het
Rtel1 T C 2: 180,962,839 (GRCm39) C31R probably damaging Het
Rubcnl T A 14: 75,279,898 (GRCm39) I427K probably damaging Het
Ryr1 C A 7: 28,751,460 (GRCm39) R3706L probably damaging Het
Ryr2 T C 13: 11,729,434 (GRCm39) D2396G probably damaging Het
Slc45a2 T C 15: 11,025,954 (GRCm39) S435P probably damaging Het
Spata17 A G 1: 186,844,798 (GRCm39) V111A probably damaging Het
Svep1 C T 4: 58,116,608 (GRCm39) D881N possibly damaging Het
Sypl2 T A 3: 108,126,411 (GRCm39) N67I possibly damaging Het
Tenm3 T C 8: 48,689,755 (GRCm39) Y1944C probably damaging Het
Tep1 A T 14: 51,062,246 (GRCm39) D2535E possibly damaging Het
Tkt T A 14: 30,294,177 (GRCm39) I529N probably damaging Het
Trp53i11 T G 2: 93,028,080 (GRCm39) V39G probably damaging Het
Trpm2 C T 10: 77,761,659 (GRCm39) G997D probably damaging Het
Usp3 A G 9: 66,447,449 (GRCm39) V219A possibly damaging Het
Usp4 T A 9: 108,268,870 (GRCm39) probably null Het
Wdfy3 A G 5: 102,065,277 (GRCm39) V1297A probably benign Het
Wdr46 T A 17: 34,159,997 (GRCm39) F70I probably benign Het
Xkr6 T C 14: 64,056,998 (GRCm39) V303A unknown Het
Zdbf2 C T 1: 63,343,165 (GRCm39) Q515* probably null Het
Zfhx2 A G 14: 55,310,354 (GRCm39) Y731H possibly damaging Het
Other mutations in Mettl14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00718:Mettl14 APN 3 123,164,988 (GRCm39) missense probably damaging 1.00
IGL00846:Mettl14 APN 3 123,165,012 (GRCm39) missense probably damaging 1.00
IGL01614:Mettl14 APN 3 123,167,609 (GRCm39) splice site probably benign
IGL02219:Mettl14 APN 3 123,168,540 (GRCm39) splice site probably benign
IGL02960:Mettl14 APN 3 123,168,534 (GRCm39) missense probably damaging 1.00
R0147:Mettl14 UTSW 3 123,165,043 (GRCm39) missense probably damaging 1.00
R0266:Mettl14 UTSW 3 123,176,475 (GRCm39) missense probably benign 0.05
R0468:Mettl14 UTSW 3 123,165,061 (GRCm39) missense probably damaging 1.00
R0543:Mettl14 UTSW 3 123,168,411 (GRCm39) missense possibly damaging 0.65
R1181:Mettl14 UTSW 3 123,167,651 (GRCm39) missense probably damaging 1.00
R1463:Mettl14 UTSW 3 123,167,722 (GRCm39) splice site probably benign
R4256:Mettl14 UTSW 3 123,177,254 (GRCm39) missense probably damaging 1.00
R4679:Mettl14 UTSW 3 123,163,063 (GRCm39) utr 3 prime probably benign
R4845:Mettl14 UTSW 3 123,165,004 (GRCm39) missense probably damaging 1.00
R5163:Mettl14 UTSW 3 123,168,474 (GRCm39) missense possibly damaging 0.90
R6476:Mettl14 UTSW 3 123,167,686 (GRCm39) missense probably damaging 1.00
R7499:Mettl14 UTSW 3 123,168,503 (GRCm39) missense probably benign 0.30
R7682:Mettl14 UTSW 3 123,177,253 (GRCm39) missense possibly damaging 0.86
R7808:Mettl14 UTSW 3 123,166,234 (GRCm39) missense possibly damaging 0.46
R8044:Mettl14 UTSW 3 123,163,309 (GRCm39) missense probably benign 0.14
R8381:Mettl14 UTSW 3 123,168,447 (GRCm39) missense probably damaging 1.00
R8955:Mettl14 UTSW 3 123,167,693 (GRCm39) missense probably benign 0.39
R9518:Mettl14 UTSW 3 123,167,687 (GRCm39) missense probably benign 0.16
Predicted Primers PCR Primer
(F):5'- CCGCAGACCAGACAGTGAGGAA -3'
(R):5'- GAGTTGGTAAATGCTGTGAGATCCTGAT -3'

Sequencing Primer
(F):5'- gtgagaaacaatgataatggggg -3'
(R):5'- TTGTTGGTAATGAGAGCCATCG -3'
Posted On 2013-07-24