Incidental Mutation 'R7808:Mettl14'
ID600916
Institutional Source Beutler Lab
Gene Symbol Mettl14
Ensembl Gene ENSMUSG00000028114
Gene Namemethyltransferase like 14
SynonymsG430022H21Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R7808 (G1)
Quality Score225.009
Status Validated
Chromosome3
Chromosomal Location123368297-123386108 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 123372585 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 276 (D276G)
Ref Sequence ENSEMBL: ENSMUSP00000029759 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029759] [ENSMUST00000090371] [ENSMUST00000174006] [ENSMUST00000174323]
Predicted Effect possibly damaging
Transcript: ENSMUST00000029759
AA Change: D276G

PolyPhen 2 Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000029759
Gene: ENSMUSG00000028114
AA Change: D276G

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: D59G

PolyPhen 2 Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000133741
Gene: ENSMUSG00000028114
AA Change: D59G

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: D276G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000134198
Gene: ENSMUSG00000028114
AA Change: D276G

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 99% (86/87)
Allele List at MGI
Other mutations in this stock
Total: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110051M20Rik T C 2: 91,444,594 probably benign Het
1700113H08Rik T C 10: 87,121,435 V11A probably benign Het
Abca12 A T 1: 71,274,634 probably null Het
Abcc12 T A 8: 86,507,939 M1232L probably benign Het
Adamts1 T C 16: 85,800,229 Y314C probably damaging Het
Adgb A G 10: 10,378,659 probably null Het
Ankrd12 T A 17: 65,985,653 K928N possibly damaging Het
Ano5 A T 7: 51,587,795 K789I possibly damaging Het
Cacna1d G T 14: 30,111,069 N938K probably damaging Het
Camk1g T C 1: 193,350,285 R273G possibly damaging Het
Caprin2 C A 6: 148,843,030 V966F probably damaging Het
Card6 T C 15: 5,099,472 H814R probably benign Het
Ccdc84 T C 9: 44,412,918 Q228R probably null Het
Cflar A G 1: 58,711,581 probably benign Het
Cftr T A 6: 18,204,205 N66K probably benign Het
Clasrp C T 7: 19,588,746 probably null Het
Clec4a4 T C 6: 122,990,380 I5T probably damaging Het
Cmtr2 T C 8: 110,221,619 I187T possibly damaging Het
Cnga1 A T 5: 72,604,273 F633I possibly damaging Het
Col16a1 C T 4: 130,073,264 P909S unknown Het
Csf1 C A 3: 107,760,045 A7S possibly damaging Het
Dhx30 A T 9: 110,086,202 V833D probably benign Het
Dlg2 T G 7: 92,431,055 I712M probably benign Het
Dmxl1 T A 18: 49,878,315 F1180I probably benign Het
Dnah9 T A 11: 66,005,805 K2398* probably null Het
Dus1l C T 11: 120,789,436 G471D possibly damaging Het
Dync1h1 A T 12: 110,655,459 N3412I possibly damaging Het
Dync1i2 T A 2: 71,250,834 probably null Het
Dysf T C 6: 84,070,929 S333P possibly damaging Het
Eed A T 7: 89,956,333 N349K probably benign Het
Eipr1 A T 12: 28,766,770 probably null Het
Fam160a2 G A 7: 105,384,525 R509C probably damaging Het
Fbxw16 A C 9: 109,448,154 V40G probably damaging Het
Fgfr4 A C 13: 55,161,156 R363S possibly damaging Het
Fgl2 A T 5: 21,373,231 N172I possibly damaging Het
Gabbr2 T A 4: 46,875,744 H126L possibly damaging Het
Gcnt2 A T 13: 40,860,862 N170Y possibly damaging Het
Gpt A G 15: 76,698,893 probably null Het
Igsf10 A G 3: 59,328,068 I1564T probably benign Het
Il22ra1 C A 4: 135,750,796 Q393K possibly damaging Het
Inpp5d A T 1: 87,683,845 K340* probably null Het
Jcad A G 18: 4,673,113 K292E probably damaging Het
Krt5 T A 15: 101,709,018 T427S probably benign Het
Krt76 T C 15: 101,890,494 D252G probably damaging Het
Krtap26-1 A G 16: 88,647,310 V141A not run Het
Lce6a A T 3: 92,620,335 V55D probably benign Het
Lpxn C T 19: 12,824,821 S170F possibly damaging Het
Magi2 T C 5: 20,465,840 V394A probably benign Het
Mbnl1 G A 3: 60,614,821 probably null Het
Med16 T A 10: 79,898,418 K554M probably damaging Het
Mphosph9 T C 5: 124,260,946 D1002G probably damaging Het
Mroh9 T C 1: 163,039,109 E686G probably damaging Het
Nav1 T C 1: 135,452,248 Y1512C unknown Het
Neb T C 2: 52,192,023 Y5712C probably damaging Het
Nek7 T A 1: 138,561,771 probably benign Het
Nptx1 T A 11: 119,544,636 I285F probably damaging Het
Oas1d G T 5: 120,914,971 E30* probably null Het
Olfr404-ps1 A T 11: 74,239,899 I112F probably damaging Het
Olfr429 C A 1: 174,089,851 Y270* probably null Het
Olfr577 A G 7: 102,973,110 V294A possibly damaging Het
Parp4 T G 14: 56,635,748 S1150A possibly damaging Het
Pinx1 A T 14: 63,919,292 K223* probably null Het
Plekha5 T C 6: 140,583,914 L1034S probably damaging Het
Ppp4r3a A G 12: 101,053,496 V400A possibly damaging Het
Prtg A T 9: 72,842,697 I128F possibly damaging Het
Rars T C 11: 35,828,707 E96G probably benign Het
Rhpn1 T A 15: 75,713,450 S551T probably benign Het
Selenow C T 7: 15,922,251 probably null Het
Serpina9 A T 12: 104,001,225 probably null Het
Shank3 A T 15: 89,548,880 D1276V probably damaging Het
Slc17a2 A C 13: 23,819,334 H285P probably damaging Het
Slc27a6 A G 18: 58,609,195 T494A probably damaging Het
Slc6a21 A C 7: 45,282,936 T54P Het
Syne2 A G 12: 75,983,727 probably null Het
Tal1 T C 4: 115,068,292 V186A probably benign Het
Tarsl2 A G 7: 65,652,261 K178E probably benign Het
Tex10 T A 4: 48,459,984 I456L probably benign Het
Tfcp2 A G 15: 100,522,429 F175S probably damaging Het
Timp2 C T 11: 118,303,800 A188T probably damaging Het
Tmc5 T A 7: 118,669,217 I836N probably damaging Het
Tmem100 T A 11: 90,035,476 M43K probably benign Het
Ulk2 A G 11: 61,854,552 Y9H probably damaging Het
Usp7 T C 16: 8,705,163 K311E probably damaging Het
Vmn1r238 G A 18: 3,123,033 T127I probably benign Het
Vmn2r28 T C 7: 5,493,679 Y58C probably damaging Het
Wdr55 G A 18: 36,760,416 G44S probably benign Het
Zfp677 C A 17: 21,397,385 H235N probably damaging Het
Zfp869 T A 8: 69,706,986 R312S probably damaging Het
Other mutations in Mettl14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00718:Mettl14 APN 3 123371339 missense probably damaging 1.00
IGL00846:Mettl14 APN 3 123371363 missense probably damaging 1.00
IGL01614:Mettl14 APN 3 123373960 splice site probably benign
IGL02219:Mettl14 APN 3 123374891 splice site probably benign
IGL02960:Mettl14 APN 3 123374885 missense probably damaging 1.00
R0147:Mettl14 UTSW 3 123371394 missense probably damaging 1.00
R0148:Mettl14 UTSW 3 123371394 missense probably damaging 1.00
R0266:Mettl14 UTSW 3 123382826 missense probably benign 0.05
R0468:Mettl14 UTSW 3 123371412 missense probably damaging 1.00
R0543:Mettl14 UTSW 3 123374762 missense possibly damaging 0.65
R1181:Mettl14 UTSW 3 123374002 missense probably damaging 1.00
R1463:Mettl14 UTSW 3 123374073 splice site probably benign
R4256:Mettl14 UTSW 3 123383605 missense probably damaging 1.00
R4679:Mettl14 UTSW 3 123369414 utr 3 prime probably benign
R4845:Mettl14 UTSW 3 123371355 missense probably damaging 1.00
R5163:Mettl14 UTSW 3 123374825 missense possibly damaging 0.90
R6476:Mettl14 UTSW 3 123374037 missense probably damaging 1.00
R7499:Mettl14 UTSW 3 123374854 missense probably benign 0.30
R7682:Mettl14 UTSW 3 123383604 missense possibly damaging 0.86
R8044:Mettl14 UTSW 3 123369660 missense probably benign 0.14
R8381:Mettl14 UTSW 3 123374798 missense probably damaging 1.00
R8955:Mettl14 UTSW 3 123374044 missense probably benign 0.39
Predicted Primers PCR Primer
(F):5'- TTAAGGTATCTTGGGTATACTTCTGT -3'
(R):5'- TGTTGGTTCCCCTCTATAAAACTTT -3'

Sequencing Primer
(F):5'- GGGTATACTTCTGTAATGCTCACAC -3'
(R):5'- CCAATGGTTGGCGCTATAGAACTTC -3'
Posted On2019-11-26