Mutagenetix > Incidental Mutation

Incidental Mutation 'R5447:Mettl13'

429104

Institutional Source

Beutler Lab

Gene Symbol

Mettl13

Ensembl Gene

ENSMUSG00000026694

Gene Name

methyltransferase 13, eEF1A lysine and N-terminal methyltransferase

Synonyms

Eef1aknmt, 5630401D24Rik

MMRRC Submission

043012-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.155) question?

Stock #

R5447 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

162359694-162376098 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 162363449 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 227 (V227A)

Ref Sequence

ENSEMBL: ENSMUSP00000135879 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028017] [ENSMUST00000159316] [ENSMUST00000159817] [ENSMUST00000176220]

AlphaFold

Q91YR5

Predicted Effect

probably benign
Transcript: ENSMUST00000028017
AA Change: V595A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000028017
Gene: ENSMUSG00000026694
AA Change: V595A

Domain	Start	End	E-Value	Type
Pfam:TPMT	13	172	1e-7	PFAM
Pfam:Ubie_methyltran	38	190	6.6e-7	PFAM
Pfam:Methyltransf_31	46	198	5.3e-13	PFAM
Pfam:Methyltransf_18	48	161	1.1e-10	PFAM
Pfam:Methyltransf_25	52	154	3.7e-9	PFAM
Pfam:Methyltransf_11	53	158	4.1e-16	PFAM
low complexity region	436	452	N/A	INTRINSIC
Pfam:Spermine_synth	472	630	7.4e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159316

SMART Domains

Protein: ENSMUSP00000135822
Gene: ENSMUSG00000026694

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_25	1	101	2.7e-10	PFAM
Pfam:Methyltransf_18	1	102	8e-11	PFAM
Pfam:Methyltransf_31	1	149	1.9e-12	PFAM
Pfam:Methyltransf_11	2	100	1.5e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159817

SMART Domains

Protein: ENSMUSP00000124267
Gene: ENSMUSG00000026694

Domain	Start	End	E-Value	Type
Pfam:TPMT	13	144	4.6e-8	PFAM
Pfam:Methyltransf_31	46	195	3.5e-12	PFAM
Pfam:Methyltransf_18	48	160	5e-11	PFAM
Pfam:Methyltransf_25	52	154	1.1e-9	PFAM
Pfam:Methyltransf_11	53	158	6e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176220
AA Change: V227A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000135879
Gene: ENSMUSG00000026694
AA Change: V227A

Domain	Start	End	E-Value	Type
Pfam:Spermine_synth	73	239	1.8e-8	PFAM
Pfam:Methyltransf_18	126	234	1.3e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176689

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

97% (71/73)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	T	C	12: 118,891,061 (GRCm39)	I479V	probably damaging	Het
Adam30	A	G	3: 98,068,659 (GRCm39)	D164G	probably benign	Het
Adgrl3	T	A	5: 81,613,188 (GRCm39)		probably benign	Het
Adrb1	T	C	19: 56,711,519 (GRCm39)	I239T	probably benign	Het
Albfm1	C	A	5: 90,732,169 (GRCm39)	A458E	probably damaging	Het
B4galnt3	T	C	6: 120,192,018 (GRCm39)	T572A	probably benign	Het
Baz2b	T	C	2: 59,744,332 (GRCm39)	E1391G	probably damaging	Het
BC016579	A	G	16: 45,469,252 (GRCm39)	V72A	probably benign	Het
Btnl10	A	T	11: 58,813,144 (GRCm39)	I258F	probably benign	Het
Cdh5	A	T	8: 104,855,994 (GRCm39)	D309V	probably damaging	Het
Cdhr2	A	G	13: 54,881,063 (GRCm39)	D1042G	probably damaging	Het
Clk2	G	T	3: 89,074,498 (GRCm39)	V53F	possibly damaging	Het
Cyfip2	T	C	11: 46,182,413 (GRCm39)	D15G	possibly damaging	Het
Dip2b	C	T	15: 100,109,867 (GRCm39)	R1451C	probably damaging	Het
Dmbt1	A	G	7: 130,721,240 (GRCm39)	Y1836C	probably damaging	Het
Dysf	T	C	6: 84,172,245 (GRCm39)	F1905L	probably damaging	Het
E130114P18Rik	A	G	4: 97,578,955 (GRCm39)	S7P	unknown	Het
Fam110a	T	C	2: 151,812,629 (GRCm39)	E47G	probably damaging	Het
Gemin6	T	G	17: 80,535,178 (GRCm39)	V46G	probably damaging	Het
Helb	T	A	10: 119,938,806 (GRCm39)	D556V	possibly damaging	Het
Hoxd4	A	G	2: 74,557,687 (GRCm39)	E22G	probably damaging	Het
Hsd17b8	A	T	17: 34,245,886 (GRCm39)	V202D	probably damaging	Het
Il1rl2	T	G	1: 40,368,316 (GRCm39)	I162R	probably damaging	Het
Lhfpl5	A	G	17: 28,795,071 (GRCm39)	T33A	probably damaging	Het
Mapk8ip3	G	A	17: 25,118,163 (GRCm39)	A1283V	probably benign	Het
Mmgt2	T	A	11: 62,555,824 (GRCm39)	C57*	probably null	Het
Muc4	G	C	16: 32,753,919 (GRCm38)	R1265P	probably benign	Het
Mylk2	T	C	2: 152,754,430 (GRCm39)	S175P	probably damaging	Het
Neu4	C	T	1: 93,950,140 (GRCm39)	T33M	probably damaging	Het
Nfs1	C	T	2: 155,984,056 (GRCm39)	R107H	probably benign	Het
Nfxl1	C	T	5: 72,686,512 (GRCm39)	R563Q	probably benign	Het
Nid1	A	G	13: 13,612,495 (GRCm39)	D70G	probably benign	Het
Nup160	C	A	2: 90,555,959 (GRCm39)	Q1220K	possibly damaging	Het
Or1ad8	G	A	11: 50,898,170 (GRCm39)	V124M	possibly damaging	Het
Or1e22	A	G	11: 73,377,002 (GRCm39)	V216A	probably benign	Het
Or52s6	A	C	7: 103,092,147 (GRCm39)	M61R	probably damaging	Het
Or5k8	A	T	16: 58,644,846 (GRCm39)	C75*	probably null	Het
Pdgfrb	T	A	18: 61,201,180 (GRCm39)	V422E	probably damaging	Het
Pear1	G	A	3: 87,666,449 (GRCm39)	R85C	probably damaging	Het
Pkhd1	T	A	1: 20,309,609 (GRCm39)	M2780L	probably benign	Het
Ppp4r4	T	C	12: 103,550,410 (GRCm39)	V62A	possibly damaging	Het
Prol1	C	T	5: 88,476,125 (GRCm39)	P172S	unknown	Het
Proz	A	G	8: 13,122,578 (GRCm39)	I231V	probably benign	Het
Ptch1	T	G	13: 63,675,059 (GRCm39)	M718L	probably benign	Het
Ptprs	A	G	17: 56,736,128 (GRCm39)	C102R	possibly damaging	Het
Robo2	A	T	16: 73,770,654 (GRCm39)	Y490*	probably null	Het
Rptor	G	A	11: 119,734,539 (GRCm39)	G514D	probably damaging	Het
Scara5	CG	C	14: 65,997,111 (GRCm39)		probably null	Het
Skint6	T	A	4: 112,963,106 (GRCm39)	S442C	probably benign	Het
Snw1	T	C	12: 87,502,485 (GRCm39)	E303G	probably benign	Het
Sp110	C	G	1: 85,516,839 (GRCm39)	E219D	probably damaging	Het
Stam2	G	A	2: 52,626,305 (GRCm39)		probably benign	Het
Stk10	C	T	11: 32,554,166 (GRCm39)	Q618*	probably null	Het
Tmc3	A	T	7: 83,271,569 (GRCm39)	E907V	possibly damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ttn	T	A	2: 76,729,451 (GRCm39)		probably benign	Het
Vps39	T	C	2: 120,183,413 (GRCm39)	D19G	probably benign	Het
Zan	T	C	5: 137,470,453 (GRCm39)	S229G	probably damaging	Het
Zfp141	A	T	7: 42,124,983 (GRCm39)	C496*	probably null	Het
Zgrf1	T	C	3: 127,356,768 (GRCm39)	S665P	possibly damaging	Het

Other mutations in Mettl13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Mettl13	APN	1	162,363,434 (GRCm39)	missense	possibly damaging	0.74
IGL00589:Mettl13	APN	1	162,369,960 (GRCm39)	missense	probably damaging	1.00
IGL01765:Mettl13	APN	1	162,366,522 (GRCm39)	missense	probably benign
IGL02200:Mettl13	APN	1	162,366,392 (GRCm39)	intron	probably benign
IGL02835:Mettl13	UTSW	1	162,373,585 (GRCm39)	missense	probably damaging	0.97
R0055:Mettl13	UTSW	1	162,373,750 (GRCm39)	missense	probably damaging	1.00
R0322:Mettl13	UTSW	1	162,371,745 (GRCm39)	splice site	probably benign
R0390:Mettl13	UTSW	1	162,366,458 (GRCm39)	missense	possibly damaging	0.51
R0423:Mettl13	UTSW	1	162,371,954 (GRCm39)	missense	probably damaging	1.00
R0723:Mettl13	UTSW	1	162,361,999 (GRCm39)	missense	probably damaging	1.00
R1472:Mettl13	UTSW	1	162,364,736 (GRCm39)	missense	possibly damaging	0.95
R2429:Mettl13	UTSW	1	162,373,894 (GRCm39)	nonsense	probably null
R3755:Mettl13	UTSW	1	162,371,789 (GRCm39)	missense	probably damaging	0.97
R3756:Mettl13	UTSW	1	162,371,789 (GRCm39)	missense	probably damaging	0.97
R4058:Mettl13	UTSW	1	162,373,755 (GRCm39)	missense	probably damaging	1.00
R4059:Mettl13	UTSW	1	162,373,755 (GRCm39)	missense	probably damaging	1.00
R4087:Mettl13	UTSW	1	162,375,771 (GRCm39)	missense	possibly damaging	0.53
R4885:Mettl13	UTSW	1	162,364,837 (GRCm39)	missense	probably damaging	0.99
R4974:Mettl13	UTSW	1	162,364,789 (GRCm39)	missense	probably damaging	0.99
R5070:Mettl13	UTSW	1	162,373,468 (GRCm39)	missense	possibly damaging	0.47
R5702:Mettl13	UTSW	1	162,373,549 (GRCm39)	missense	probably benign	0.00
R6137:Mettl13	UTSW	1	162,363,455 (GRCm39)	missense	probably benign	0.09
R6570:Mettl13	UTSW	1	162,371,855 (GRCm39)	missense	probably damaging	0.99
R6754:Mettl13	UTSW	1	162,375,692 (GRCm39)	missense	probably damaging	1.00
R7340:Mettl13	UTSW	1	162,366,547 (GRCm39)	missense	probably benign	0.00
R7386:Mettl13	UTSW	1	162,375,723 (GRCm39)	missense	probably damaging	1.00
R8397:Mettl13	UTSW	1	162,371,887 (GRCm39)	missense	possibly damaging	0.78
R8557:Mettl13	UTSW	1	162,371,921 (GRCm39)	missense	possibly damaging	0.90
R8901:Mettl13	UTSW	1	162,373,814 (GRCm39)	missense	possibly damaging	0.51
R8905:Mettl13	UTSW	1	162,364,847 (GRCm39)	missense	probably damaging	1.00
R9614:Mettl13	UTSW	1	162,364,769 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAAGAGAGCCTCAATTCCTTGC -3'
(R):5'- TGTCTTCAGCAGGCAGAGTAC -3'

Sequencing Primer
(F):5'- CTTGCAGTCCTCTGAGATAGCAG -3'
(R):5'- GCAGAGTACTCACGTCGTCATC -3'

Posted On

2016-09-06