Mutagenetix > Incidental Mutation

Incidental Mutation 'R6158:Mettl27'

489696

Institutional Source

Beutler Lab

Gene Symbol

Mettl27

Ensembl Gene

ENSMUSG00000040557

Gene Name

methyltransferase like 27

Synonyms

Wbscr27

MMRRC Submission

044305-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.130) question?

Stock #

R6158 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

134932368-134942637 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 134940576 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 170 (P170S)

Ref Sequence

ENSEMBL: ENSMUSP00000106852 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047196] [ENSMUST00000051401] [ENSMUST00000068617] [ENSMUST00000111218] [ENSMUST00000111219] [ENSMUST00000111221] [ENSMUST00000148286] [ENSMUST00000201847]

AlphaFold

Q8BGM4

Predicted Effect

probably benign
Transcript: ENSMUST00000047196
AA Change: P201S

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000039080
Gene: ENSMUSG00000040557
AA Change: P201S

Domain	Start	End	E-Value	Type
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: ENSMUST00000051401

SMART Domains

Protein: ENSMUSP00000053420
Gene: ENSMUSG00000047501

Domain	Start	End	E-Value	Type
Pfam:PMP22_Claudin	4	181	1.1e-36	PFAM
Pfam:Claudin_2	15	183	1.5e-10	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000068617
AA Change: P170S

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000067814
Gene: ENSMUSG00000040557
AA Change: P170S

Domain	Start	End	E-Value	Type
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: ENSMUST00000111218
AA Change: P201S

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000106849
Gene: ENSMUSG00000040557
AA Change: P201S

Domain	Start	End	E-Value	Type
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: ENSMUST00000111219
AA Change: P201S

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000106850
Gene: ENSMUSG00000040557
AA Change: P201S

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000111221
AA Change: P170S

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000106852
Gene: ENSMUSG00000040557
AA Change: P170S

Domain	Start	End	E-Value	Type
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

noncoding transcript
Transcript: ENSMUST00000136815

Predicted Effect

possibly damaging
Transcript: ENSMUST00000148286
AA Change: P39S

PolyPhen 2 Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000119109
Gene: ENSMUSG00000040557
AA Change: P39S

Domain	Start	End	E-Value	Type
Blast:ACTIN	1	59	4e-17	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000201847
AA Change: P201S

PolyPhen 2 Score 0.612 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000144170
Gene: ENSMUSG00000040557
AA Change: P201S

Domain	Start	End	E-Value	Type
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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.5%
20x: 92.6%

Validation Efficiency

98% (65/66)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,170,636	V793A	possibly damaging	Het
2900092C05Rik	A	G	7: 12,512,672	T32A	probably benign	Het
Adprhl1	C	T	8: 13,224,977	V594M	possibly damaging	Het
Ano3	A	T	2: 110,665,875	Y845N	probably damaging	Het
Arhgap24	A	T	5: 102,892,912	I575L	probably benign	Het
Aurka	A	C	2: 172,363,596		probably null	Het
C1qtnf5	A	T	9: 44,108,970		probably benign	Het
Cacnb2	A	G	2: 14,985,601	D454G	possibly damaging	Het
Ccdc58	T	A	16: 36,089,929	V118D	probably damaging	Het
Chchd5	T	C	2: 129,130,517	L87P	probably damaging	Het
Col7a1	G	T	9: 108,964,603	R1377L	unknown	Het
Cpne8	A	C	15: 90,571,988	S191A	probably damaging	Het
Dhx30	A	T	9: 110,087,030	I671N	probably damaging	Het
Dnah12	A	T	14: 26,773,685	K1423N	possibly damaging	Het
Dnm3	T	C	1: 162,320,987	M272V	probably damaging	Het
Fat4	A	T	3: 38,983,262	S3688C	possibly damaging	Het
Frmpd1	A	T	4: 45,285,401	L1407F	probably damaging	Het
Fry	T	C	5: 150,454,572	S410P	probably damaging	Het
Gm11565	T	A	11: 99,914,918	C45*	probably null	Het
Gngt1	A	T	6: 3,994,311	R30*	probably null	Het
Htt	T	C	5: 34,907,086	I2943T	possibly damaging	Het
Kl	T	A	5: 150,988,853	M689K	possibly damaging	Het
Lmo7	T	A	14: 101,900,137	D247E	probably benign	Het
Mastl	G	T	2: 23,132,772	N646K	possibly damaging	Het
Mei4	G	T	9: 81,927,576	L237F	probably damaging	Het
Mgam	T	A	6: 40,757,714	I896K	probably damaging	Het
Moxd1	T	A	10: 24,284,777	C443S	probably damaging	Het
Myo18b	A	T	5: 112,874,172	N451K	probably benign	Het
Myo7b	T	C	18: 31,988,549	I768V	probably benign	Het
Nos1	A	C	5: 117,867,574	I120L	probably benign	Het
Nsd1	T	C	13: 55,245,621	V345A	probably benign	Het
Olfr1095	A	G	2: 86,851,515	L61P	possibly damaging	Het
Olfr1205	T	C	2: 88,831,146	F10L	probably damaging	Het
Olfr150	C	T	9: 39,737,076	T87I	probably benign	Het
Olfr170	C	A	16: 19,605,925	V248F	probably damaging	Het
Olfr344	A	T	2: 36,569,116	T173S	probably benign	Het
Pdzph1	T	G	17: 58,973,627	Q553H	probably damaging	Het
Piwil1	T	A	5: 128,747,876	L546*	probably null	Het
Pla2g4f	T	C	2: 120,301,071	T724A	probably benign	Het
Ralgapa2	A	T	2: 146,424,676	M660K	possibly damaging	Het
Rgsl1	T	C	1: 153,804,021	D103G	possibly damaging	Het
Rnf186	A	G	4: 138,967,254	D35G	probably damaging	Het
Rock2	A	G	12: 16,954,918	D424G	probably benign	Het
Scg2	A	T	1: 79,435,400	D495E	probably damaging	Het
Slc39a2	G	A	14: 51,894,224		probably null	Het
Snrnp48	T	A	13: 38,210,236	Y100*	probably null	Het
Spaca1	A	G	4: 34,029,176	M99T	probably damaging	Het
Specc1	T	G	11: 62,118,124	F235L	probably damaging	Het
St13	A	T	15: 81,399,601		probably null	Het
Swap70	T	A	7: 110,270,023	M341K	probably damaging	Het
Synj2	A	G	17: 5,986,212	D67G	probably benign	Het
Tmem135	T	A	7: 89,156,444	I251F	probably benign	Het
Tmem87a	A	T	2: 120,360,103		probably null	Het
Tom1l2	C	T	11: 60,232,927	D128N	probably damaging	Het
Tpx2	C	A	2: 152,873,104	H82N	probably benign	Het
Trip12	A	T	1: 84,761,012	C738S	possibly damaging	Het
Ttyh1	A	G	7: 4,125,562	T153A	probably benign	Het
Utrn	C	T	10: 12,690,822	G1199S	probably benign	Het
Vmn1r8	T	A	6: 57,036,289	N108K	probably benign	Het
Vmn2r63	T	A	7: 42,933,680	D37V	probably damaging	Het
Vwce	C	T	19: 10,644,221	R206C	possibly damaging	Het
Wrn	G	T	8: 33,319,172	F265L	probably damaging	Het
Zfp472	T	A	17: 32,978,389	C479*	probably null	Het
Zfp831	A	T	2: 174,643,858	T109S	possibly damaging	Het
Znfx1	G	T	2: 167,056,726	Q93K	probably benign	Het

Other mutations in Mettl27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R7226:Mettl27	UTSW	5	134935803	missense	probably damaging	1.00
R9772:Mettl27	UTSW	5	134933536	missense	possibly damaging	0.73

Predicted Primers

PCR Primer
(F):5'- TGAAGTCTAGGGATATCCGTGC -3'
(R):5'- ACCCATTTTACAGACAGAGCAG -3'

Sequencing Primer
(F):5'- TCTAGGGATATCCGTGCAGCTC -3'
(R):5'- CTGGGCTGAGACCATACACAG -3'

Posted On

2017-10-10