Mutagenetix > Incidental Mutation

Incidental Mutation 'R7226:Mettl27'

562153

Institutional Source

Beutler Lab

Gene Symbol

Mettl27

Ensembl Gene

ENSMUSG00000040557

Gene Name

methyltransferase like 27

Synonyms

Wbscr27

MMRRC Submission

045298-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.112) question?

Stock #

R7226 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

134961222-134971491 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 134964657 bp (GRCm39)

Zygosity

Heterozygous

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]

AlphaFold

Q8BGM4

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

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 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

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 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

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

probably benign
Transcript: ENSMUST00000148286

SMART Domains

Protein: ENSMUSP00000119109
Gene: ENSMUSG00000040557

Domain	Start	End	E-Value	Type
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

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

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700025B11Rik	C	T	15: 77,443,189 (GRCm39)	V17I	unknown	Het
Acad8	T	A	9: 26,889,726 (GRCm39)	K323*	probably null	Het
Adam18	A	T	8: 25,137,824 (GRCm39)	C339S	probably damaging	Het
Anxa7	A	G	14: 20,510,263 (GRCm39)	F396L	probably damaging	Het
Ap2m1	T	A	16: 20,358,201 (GRCm39)	V73D	probably damaging	Het
Asic2	A	T	11: 80,862,340 (GRCm39)	I270N	probably damaging	Het
Atrn	T	G	2: 130,828,664 (GRCm39)	C1070G	probably damaging	Het
Bag6	A	G	17: 35,361,921 (GRCm39)	N517S	unknown	Het
Bhmt1b	A	G	18: 87,775,590 (GRCm39)	D371G	possibly damaging	Het
Bltp3b	A	T	10: 89,644,503 (GRCm39)	Q1181L	probably benign	Het
Cavin1	A	C	11: 100,861,284 (GRCm39)	D3E	probably benign	Het
Cc2d2b	T	C	19: 40,779,751 (GRCm39)	L571P	unknown	Het
Ccbe1	A	T	18: 66,216,199 (GRCm39)	C175S	probably damaging	Het
Cd19	A	G	7: 126,013,995 (GRCm39)	L5P	unknown	Het
Cd46	A	G	1: 194,724,314 (GRCm39)	S362P	possibly damaging	Het
Celf5	A	G	10: 81,303,863 (GRCm39)	S198P	probably damaging	Het
Cep170b	A	G	12: 112,704,359 (GRCm39)	R706G	possibly damaging	Het
Chd3	G	T	11: 69,260,037 (GRCm39)	R61S	unknown	Het
Cpsf6	A	C	10: 117,197,727 (GRCm39)	W253G	unknown	Het
Cyp27a1	G	A	1: 74,776,507 (GRCm39)	G481D	probably damaging	Het
Ddr1	C	T	17: 36,002,039 (GRCm39)	D218N	possibly damaging	Het
Dhx34	A	T	7: 15,932,801 (GRCm39)	V1046D	probably damaging	Het
Dhx9	A	T	1: 153,341,423 (GRCm39)	D608E	probably benign	Het
Dnajc6	C	A	4: 101,496,569 (GRCm39)	A912E	probably damaging	Het
Ehmt1	T	C	2: 24,694,794 (GRCm39)	D1051G	probably damaging	Het
Fam217b	C	A	2: 178,062,996 (GRCm39)	A320E	probably benign	Het
Farsa	T	A	8: 85,590,689 (GRCm39)	I169N	probably benign	Het
Fbn2	A	G	18: 58,170,142 (GRCm39)	C2210R	probably damaging	Het
Fbxo3	T	A	2: 103,880,642 (GRCm39)	S251T	probably benign	Het
Fer1l6	C	T	15: 58,462,384 (GRCm39)	T813I	probably benign	Het
Ftl1-ps1	A	T	13: 74,555,114 (GRCm39)	E131V	probably damaging	Het
Gins3	T	A	8: 96,364,499 (GRCm39)	I83N	probably damaging	Het
Gja3	T	C	14: 57,273,350 (GRCm39)	T341A	probably benign	Het
Gja5	A	G	3: 96,958,174 (GRCm39)	Y77C	probably damaging	Het
Gm7247	A	G	14: 51,602,808 (GRCm39)	K48R	probably damaging	Het
Gsx2	C	A	5: 75,236,621 (GRCm39)	S67*	probably null	Het
H2-Q5	T	A	17: 35,616,089 (GRCm39)	L217Q		Het
Impg2	T	A	16: 56,087,467 (GRCm39)	C1095*	probably null	Het
Itga7	G	T	10: 128,776,801 (GRCm39)	W222L	probably damaging	Het
Kdm2b	T	A	5: 123,059,512 (GRCm39)	D530V	possibly damaging	Het
Klhdc8a	A	T	1: 132,230,344 (GRCm39)	D153V	probably damaging	Het
Lin28a	C	T	4: 133,733,619 (GRCm39)	G143S	probably damaging	Het
Memo1	A	G	17: 74,509,338 (GRCm39)	L227S	probably damaging	Het
Mov10	G	T	3: 104,708,328 (GRCm39)	L474I	probably damaging	Het
Nat10	T	C	2: 103,557,098 (GRCm39)	N852S	probably benign	Het
Nfkbie	T	C	17: 45,870,153 (GRCm39)	V166A	possibly damaging	Het
Nktr	T	C	9: 121,575,599 (GRCm39)	M369T	probably damaging	Het
Nlrp9a	A	T	7: 26,258,149 (GRCm39)	N589I	probably benign	Het
Nrn1	G	A	13: 36,914,577 (GRCm39)	R8C	probably benign	Het
Nrsn1	A	G	13: 25,437,451 (GRCm39)	I159T	probably damaging	Het
Or1e29	A	G	11: 73,667,503 (GRCm39)	S217P	possibly damaging	Het
Or2h15	C	T	17: 38,441,324 (GRCm39)	G253D	probably benign	Het
Or5p61	A	T	7: 107,758,164 (GRCm39)	D305E	probably benign	Het
Or6c88	G	A	10: 129,406,584 (GRCm39)	G20D	probably benign	Het
Osbp	T	A	19: 11,956,031 (GRCm39)	D385E	probably benign	Het
Pan3	T	A	5: 147,463,802 (GRCm39)	N547K	probably damaging	Het
Pip4p2	T	A	4: 14,892,464 (GRCm39)	D109E	probably damaging	Het
Pum1	C	A	4: 130,499,292 (GRCm39)	T1036K	probably damaging	Het
Rad54l2	C	A	9: 106,590,671 (GRCm39)	R485L	probably damaging	Het
Rps26	A	T	10: 128,461,087 (GRCm39)	F101I	unknown	Het
Sdsl	T	C	5: 120,598,702 (GRCm39)	N138S	probably benign	Het
Slc28a2b	C	A	2: 122,353,013 (GRCm39)	R453S	probably benign	Het
Slc39a6	A	T	18: 24,717,084 (GRCm39)	H649Q	probably damaging	Het
Snip1	T	A	4: 124,965,273 (GRCm39)	F226Y	probably benign	Het
Srrd	T	C	5: 112,485,322 (GRCm39)	T334A	unknown	Het
St14	C	T	9: 31,011,448 (GRCm39)	D448N	possibly damaging	Het
Tmem270	T	A	5: 134,930,538 (GRCm39)	Q241L	probably benign	Het
Tubb4b	T	C	2: 25,114,180 (GRCm39)	D41G	probably benign	Het
Usf3	T	C	16: 44,040,368 (GRCm39)	M1616T	possibly damaging	Het
Vmn2r95	A	T	17: 18,672,245 (GRCm39)	I733F	possibly damaging	Het
Zfp976	A	T	7: 42,262,684 (GRCm39)	C385*	probably null	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
R0931:Mettl27	UTSW	5	134,963,285 (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
R9772:Mettl27	UTSW	5	134,962,390 (GRCm39)	missense	possibly damaging	0.73

Predicted Primers

PCR Primer
(F):5'- GAGGGACCACACCACATTATAGTC -3'
(R):5'- CAGGGCAGAGCACTTAAGTG -3'

Sequencing Primer
(F):5'- CTGCTATTCTTACAGAGGACCTAGG -3'
(R):5'- CTTAAGTGACAGATGGAGAACTGG -3'

Posted On

2019-06-26