Incidental Mutation 'R7226:Mettl27'
ID562153
Institutional Source Beutler Lab
Gene Symbol Mettl27
Ensembl Gene ENSMUSG00000040557
Gene Namemethyltransferase like 27
SynonymsWbscr27
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.120) question?
Stock #R7226 (G1)
Quality Score225.009
Status Not validated
Chromosome5
Chromosomal Location134932368-134942637 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 134935803 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 138 (V138E)
Ref Sequence ENSEMBL: ENSMUSP00000039080 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047196] [ENSMUST00000068617] [ENSMUST00000111218] [ENSMUST00000111219] [ENSMUST00000111221] [ENSMUST00000136246] [ENSMUST00000148286] [ENSMUST00000201847]
Predicted Effect probably damaging
Transcript: ENSMUST00000047196
AA Change: V138E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039080
Gene: ENSMUSG00000040557
AA Change: V138E

DomainStartEndE-ValueType
Pfam:Ubie_methyltran 29 188 1.4e-11 PFAM
Pfam:Methyltransf_23 45 217 4.9e-13 PFAM
Pfam:MetW 62 165 6.4e-8 PFAM
Pfam:Methyltransf_18 67 169 4.7e-14 PFAM
Pfam:Methyltransf_31 67 215 1.4e-12 PFAM
Pfam:Methyltransf_25 71 162 1.4e-10 PFAM
Pfam:Methyltransf_12 72 164 1.8e-10 PFAM
Pfam:Methyltransf_11 72 166 2.1e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000068617
SMART Domains Protein: ENSMUSP00000067814
Gene: ENSMUSG00000040557

DomainStartEndE-ValueType
Pfam:Methyltransf_23 46 185 9e-9 PFAM
Pfam:Methyltransf_18 67 164 3.8e-10 PFAM
Pfam:Methyltransf_11 72 148 9.6e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111218
AA Change: V138E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106849
Gene: ENSMUSG00000040557
AA Change: V138E

DomainStartEndE-ValueType
Pfam:Ubie_methyltran 29 188 1.4e-11 PFAM
Pfam:Methyltransf_23 46 219 6.2e-14 PFAM
Pfam:MetW 62 165 6.4e-8 PFAM
Pfam:Methyltransf_18 67 169 7.2e-15 PFAM
Pfam:Methyltransf_31 67 216 1e-12 PFAM
Pfam:Methyltransf_25 71 162 1.3e-10 PFAM
Pfam:Methyltransf_12 72 164 1.8e-10 PFAM
Pfam:Methyltransf_11 72 166 5.2e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111219
AA Change: V138E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106850
Gene: ENSMUSG00000040557
AA Change: V138E

DomainStartEndE-ValueType
Pfam:Ubie_methyltran 29 188 1.4e-11 PFAM
Pfam:Methyltransf_23 46 219 6.2e-14 PFAM
Pfam:MetW 62 165 6.4e-8 PFAM
Pfam:Methyltransf_18 67 169 7.2e-15 PFAM
Pfam:Methyltransf_31 67 216 1e-12 PFAM
Pfam:Methyltransf_25 71 162 1.3e-10 PFAM
Pfam:Methyltransf_12 72 164 1.8e-10 PFAM
Pfam:Methyltransf_11 72 166 5.2e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111221
SMART Domains Protein: ENSMUSP00000106852
Gene: ENSMUSG00000040557

DomainStartEndE-ValueType
Pfam:Methyltransf_23 46 185 9e-9 PFAM
Pfam:Methyltransf_18 67 164 3.8e-10 PFAM
Pfam:Methyltransf_11 72 148 9.6e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000136246
SMART Domains Protein: ENSMUSP00000119451
Gene: ENSMUSG00000040557

DomainStartEndE-ValueType
Pfam:Ubie_methyltran 28 116 1.2e-6 PFAM
Pfam:Methyltransf_23 45 123 1.3e-8 PFAM
Pfam:Methyltransf_18 67 127 2.5e-10 PFAM
Pfam:Methyltransf_11 72 127 5.6e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000148286
SMART Domains Protein: ENSMUSP00000119109
Gene: ENSMUSG00000040557

DomainStartEndE-ValueType
Blast:ACTIN 1 59 4e-17 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000201847
AA Change: V138E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144170
Gene: ENSMUSG00000040557
AA Change: V138E

DomainStartEndE-ValueType
Pfam:Ubie_methyltran 29 188 2.3e-9 PFAM
Pfam:Methyltransf_23 45 214 6.5e-11 PFAM
Pfam:MetW 62 165 8.7e-5 PFAM
Pfam:Methyltransf_18 67 169 4e-12 PFAM
Pfam:Methyltransf_31 67 215 1.1e-10 PFAM
Pfam:Methyltransf_25 71 162 1.6e-8 PFAM
Pfam:Methyltransf_12 72 164 2.7e-8 PFAM
Pfam:Methyltransf_11 72 166 1.5e-14 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein belonging to ubiE/COQ5 methyltransferase family. The gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.22-q11.23. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700025B11Rik C T 15: 77,558,989 V17I unknown Het
Acad8 T A 9: 26,978,430 K323* probably null Het
Adam18 A T 8: 24,647,808 C339S probably damaging Het
Anxa7 A G 14: 20,460,195 F396L probably damaging Het
Ap2m1 T A 16: 20,539,451 V73D probably damaging Het
Asic2 A T 11: 80,971,514 I270N probably damaging Het
Atrn T G 2: 130,986,744 C1070G probably damaging Het
Bag6 A G 17: 35,142,945 N517S unknown Het
Cavin1 A C 11: 100,970,458 D3E probably benign Het
Cc2d2b T C 19: 40,791,307 L571P unknown Het
Ccbe1 A T 18: 66,083,128 C175S probably damaging Het
Cd19 A G 7: 126,414,823 L5P unknown Het
Cd46 A G 1: 195,042,006 S362P possibly damaging Het
Celf5 A G 10: 81,468,029 S198P probably damaging Het
Cep170b A G 12: 112,737,925 R706G possibly damaging Het
Chd3 G T 11: 69,369,211 R61S unknown Het
Cpsf6 A C 10: 117,361,822 W253G unknown Het
Cyp27a1 G A 1: 74,737,348 G481D probably damaging Het
Ddr1 C T 17: 35,691,147 D218N possibly damaging Het
Dhx34 A T 7: 16,198,876 V1046D probably damaging Het
Dhx9 A T 1: 153,465,677 D608E probably benign Het
Dnajc6 C A 4: 101,639,372 A912E probably damaging Het
Ehmt1 T C 2: 24,804,782 D1051G probably damaging Het
Fam217b C A 2: 178,421,203 A320E probably benign Het
Farsa T A 8: 84,864,060 I169N probably benign Het
Fbn2 A G 18: 58,037,070 C2210R probably damaging Het
Fbxo3 T A 2: 104,050,297 S251T probably benign Het
Fer1l6 C T 15: 58,590,535 T813I probably benign Het
Ftl1-ps1 A T 13: 74,406,995 E131V probably damaging Het
Gins3 T A 8: 95,637,871 I83N probably damaging Het
Gja3 T C 14: 57,035,893 T341A probably benign Het
Gja5 A G 3: 97,050,858 Y77C probably damaging Het
Gm14085 C A 2: 122,522,532 R453S probably benign Het
Gm5096 A G 18: 87,757,466 D371G possibly damaging Het
Gm7247 A G 14: 51,365,351 K48R probably damaging Het
Gsx2 C A 5: 75,075,960 S67* probably null Het
H2-Q5 T A 17: 35,397,113 L217Q Het
Impg2 T A 16: 56,267,104 C1095* probably null Het
Itga7 G T 10: 128,940,932 W222L probably damaging Het
Kdm2b T A 5: 122,921,449 D530V possibly damaging Het
Klhdc8a A T 1: 132,302,606 D153V probably damaging Het
Lin28a C T 4: 134,006,308 G143S probably damaging Het
Memo1 A G 17: 74,202,343 L227S probably damaging Het
Mov10 G T 3: 104,801,012 L474I probably damaging Het
Nat10 T C 2: 103,726,753 N852S probably benign Het
Nfkbie T C 17: 45,559,227 V166A possibly damaging Het
Nktr T C 9: 121,746,533 M369T probably damaging Het
Nlrp9a A T 7: 26,558,724 N589I probably benign Het
Nrn1 G A 13: 36,730,603 R8C probably benign Het
Nrsn1 A G 13: 25,253,468 I159T probably damaging Het
Olfr132 C T 17: 38,130,433 G253D probably benign Het
Olfr389 A G 11: 73,776,677 S217P possibly damaging Het
Olfr485 A T 7: 108,158,957 D305E probably benign Het
Olfr794 G A 10: 129,570,715 G20D probably benign Het
Osbp T A 19: 11,978,667 D385E probably benign Het
Pan3 T A 5: 147,526,992 N547K probably damaging Het
Pum1 C A 4: 130,771,981 T1036K probably damaging Het
Rad54l2 C A 9: 106,713,472 R485L probably damaging Het
Rps26 A T 10: 128,625,218 F101I unknown Het
Sdsl T C 5: 120,460,637 N138S probably benign Het
Slc39a6 A T 18: 24,584,027 H649Q probably damaging Het
Snip1 T A 4: 125,071,480 F226Y probably benign Het
Srrd T C 5: 112,337,456 T334A unknown Het
St14 C T 9: 31,100,152 D448N possibly damaging Het
Tmem270 T A 5: 134,901,684 Q241L probably benign Het
Tmem55a T A 4: 14,892,464 D109E probably damaging Het
Tubb4b T C 2: 25,224,168 D41G probably benign Het
Uhrf1bp1l A T 10: 89,808,641 Q1181L probably benign Het
Usf3 T C 16: 44,220,005 M1616T possibly damaging Het
Vmn2r95 A T 17: 18,451,983 I733F possibly damaging Het
Zfp976 A T 7: 42,613,260 C385* probably null Het
Other mutations in Mettl27
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01336:Mettl27 APN 5 134935880 splice site probably benign
R0931:Mettl27 UTSW 5 134934431 splice site probably benign
R4039:Mettl27 UTSW 5 134940609 nonsense probably null
R4839:Mettl27 UTSW 5 134934412 missense probably damaging 1.00
R6158:Mettl27 UTSW 5 134940576 missense possibly damaging 0.77
Predicted Primers PCR Primer
(F):5'- GAGGGACCACACCACATTATAGTC -3'
(R):5'- CAGGGCAGAGCACTTAAGTG -3'

Sequencing Primer
(F):5'- CTGCTATTCTTACAGAGGACCTAGG -3'
(R):5'- CTTAAGTGACAGATGGAGAACTGG -3'
Posted On2019-06-26