Mutagenetix > Incidental Mutation

Incidental Mutation 'R0931:Mettl27'

80871

Institutional Source

Beutler Lab

Gene Symbol

Mettl27

Ensembl Gene

ENSMUSG00000040557

Gene Name

methyltransferase like 27

Synonyms

Wbscr27

MMRRC Submission

039075-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.116) question?

Stock #

R0931 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

134961222-134971491 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 134963285 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000144170 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047196] [ENSMUST00000068617] [ENSMUST00000111218] [ENSMUST00000111219] [ENSMUST00000111221] [ENSMUST00000136246] [ENSMUST00000201847]

AlphaFold

Q8BGM4

Predicted Effect

probably benign
Transcript: ENSMUST00000047196

SMART Domains

Protein: ENSMUSP00000039080
Gene: ENSMUSG00000040557

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: ENSMUST00000068617

SMART Domains

Protein: ENSMUSP00000067814
Gene: ENSMUSG00000040557

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

SMART Domains

Protein: ENSMUSP00000106849
Gene: ENSMUSG00000040557

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

SMART Domains

Protein: ENSMUSP00000106850
Gene: ENSMUSG00000040557

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: ENSMUST00000111221

SMART Domains

Protein: ENSMUSP00000106852
Gene: ENSMUSG00000040557

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: ENSMUST00000136246

SMART Domains

Protein: ENSMUSP00000119451
Gene: ENSMUSG00000040557

Domain	Start	End	E-Value	Type
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

noncoding transcript
Transcript: ENSMUST00000136815

Predicted Effect

probably benign
Transcript: ENSMUST00000201847

SMART Domains

Protein: ENSMUSP00000144170
Gene: ENSMUSG00000040557

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202228

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 96.0%

Validation Efficiency

100% (42/42)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	G	A	4: 86,168,084 (GRCm39)	A476T	probably benign	Het
Ajm1	T	C	2: 25,468,501 (GRCm39)	E470G	possibly damaging	Het
Aknad1	T	C	3: 108,659,339 (GRCm39)	S118P	probably damaging	Het
Arhgap20	A	G	9: 51,728,041 (GRCm39)	T85A	probably benign	Het
Astn2	A	G	4: 65,566,530 (GRCm39)	L824P	probably damaging	Het
Ccr1	C	A	9: 123,763,827 (GRCm39)	K234N	probably damaging	Het
Cfap46	T	C	7: 139,235,757 (GRCm39)	R203G	probably damaging	Het
Col8a1	A	G	16: 57,448,931 (GRCm39)	I193T	unknown	Het
Cpa2	T	C	6: 30,552,070 (GRCm39)		probably benign	Het
Crabp1	T	C	9: 54,675,717 (GRCm39)	L100P	possibly damaging	Het
Cspp1	A	T	1: 10,174,511 (GRCm39)	R655W	probably damaging	Het
Ddx1	A	T	12: 13,287,818 (GRCm39)		probably benign	Het
Dnah7b	T	G	1: 46,138,772 (GRCm39)		probably benign	Het
Dzip3	A	G	16: 48,771,921 (GRCm39)	S583P	probably damaging	Het
Exosc1	A	G	19: 41,921,676 (GRCm39)		probably benign	Het
Fhip1a	A	G	3: 85,580,550 (GRCm39)	S552P	probably benign	Het
Gas7	A	T	11: 67,543,751 (GRCm39)		probably benign	Het
Gss	A	T	2: 155,409,609 (GRCm39)		probably benign	Het
Hdhd3	G	A	4: 62,417,757 (GRCm39)	R140*	probably null	Het
Irx2	T	A	13: 72,779,675 (GRCm39)	S320T	possibly damaging	Het
Kcnf1	T	C	12: 17,225,142 (GRCm39)	S360G	possibly damaging	Het
Klk1b4	T	C	7: 43,860,480 (GRCm39)	L166P	probably damaging	Het
Klri1	A	T	6: 129,674,381 (GRCm39)		probably benign	Het
Myrfl	T	A	10: 116,675,354 (GRCm39)	H193L	probably benign	Het
Nbas	C	T	12: 13,381,115 (GRCm39)		probably benign	Het
Or10ac1	C	A	6: 42,515,020 (GRCm39)	R312L	probably benign	Het
Or52b2	A	T	7: 104,986,736 (GRCm39)	Y62*	probably null	Het
Papolg	A	G	11: 23,832,257 (GRCm39)	I177T	probably damaging	Het
Pdcd1	A	G	1: 93,967,238 (GRCm39)	V220A	probably benign	Het
Psmc1	T	C	12: 100,085,341 (GRCm39)	L234P	probably damaging	Het
Rasa2	A	T	9: 96,434,457 (GRCm39)	M610K	possibly damaging	Het
Ryr3	A	G	2: 112,484,047 (GRCm39)	F3930S	probably damaging	Het
Sacs	G	A	14: 61,440,944 (GRCm39)	V997I	probably benign	Het
Setdb2	A	G	14: 59,660,945 (GRCm39)		probably benign	Het
Ssu2	C	A	6: 112,361,359 (GRCm39)	L32F	probably damaging	Het
Taar1	A	T	10: 23,797,181 (GRCm39)	N293I	probably damaging	Het
Ttn	A	G	2: 76,611,846 (GRCm39)		probably benign	Het
Vmn2r49	T	C	7: 9,720,325 (GRCm39)	M389V	possibly damaging	Het
Wdr7	T	C	18: 63,998,371 (GRCm39)	V1106A	probably benign	Het
Zfp324	A	G	7: 12,700,185 (GRCm39)	I15V	probably benign	Het

Other mutations in Mettl27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01336:Mettl27	APN	5	134,964,734 (GRCm39)	splice site	probably benign
R4039:Mettl27	UTSW	5	134,969,463 (GRCm39)	nonsense	probably null
R4839:Mettl27	UTSW	5	134,963,266 (GRCm39)	missense	probably damaging	1.00
R6158:Mettl27	UTSW	5	134,969,430 (GRCm39)	missense	possibly damaging	0.77
R7226:Mettl27	UTSW	5	134,964,657 (GRCm39)	missense	probably damaging	1.00
R9772:Mettl27	UTSW	5	134,962,390 (GRCm39)	missense	possibly damaging	0.73

Predicted Primers

PCR Primer
(F):5'- GGGATTACCCATGACTGATGCCAC -3'
(R):5'- GGTGCTTTGCCACAGCAATAAGAAG -3'

Sequencing Primer
(F):5'- ATGACTGATGCCACCTTCTC -3'
(R):5'- tgggaggcagaggcagg -3'

Posted On

2013-11-07