Mutagenetix > Incidental Mutation

Incidental Mutation 'R0423:Mettl13'

38564

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

038625-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

R0423 (G1)

Quality Score

119

Status

Validated

Chromosome

Chromosomal Location

162359694-162376098 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 162371954 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 305 (I305N)

Ref Sequence

ENSEMBL: ENSMUSP00000028017 (fasta)

Gene Model

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

AlphaFold

Q91YR5

Predicted Effect

probably damaging
Transcript: ENSMUST00000028017
AA Change: I305N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000028017
Gene: ENSMUSG00000026694
AA Change: I305N

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

noncoding transcript
Transcript: ENSMUST00000159255

Predicted Effect

unknown
Transcript: ENSMUST00000159316
AA Change: S101T

SMART Domains

Protein: ENSMUSP00000135822
Gene: ENSMUSG00000026694
AA Change: S101T

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
AA Change: S146T

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000124267
Gene: ENSMUSG00000026694
AA Change: S146T

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

noncoding transcript
Transcript: ENSMUST00000161760

Predicted Effect

probably benign
Transcript: ENSMUST00000176220

SMART Domains

Protein: ENSMUSP00000135879
Gene: ENSMUSG00000026694

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195027

Meta Mutation Damage Score

0.9121

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.9%
20x: 91.9%

Validation Efficiency

99% (84/85)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	A	T	7: 29,261,825 (GRCm39)		noncoding transcript	Het
A630001G21Rik	A	G	1: 85,654,187 (GRCm39)	I50T	probably benign	Het
Abhd12	T	C	2: 150,680,312 (GRCm39)	T264A	possibly damaging	Het
Acsm3	T	C	7: 119,376,382 (GRCm39)	Y370H	probably damaging	Het
Ank2	G	T	3: 126,723,509 (GRCm39)	Y3789*	probably null	Het
Anxa4	C	T	6: 86,737,719 (GRCm39)	A1T	probably damaging	Het
Apba1	T	A	19: 23,922,362 (GRCm39)	V810D	probably damaging	Het
Bank1	A	G	3: 135,989,778 (GRCm39)	I104T	possibly damaging	Het
Birc6	T	C	17: 75,003,292 (GRCm39)	Y4721H	probably damaging	Het
Bmpr2	A	G	1: 59,907,669 (GRCm39)	T921A	probably benign	Het
Ccdc102a	A	C	8: 95,632,554 (GRCm39)		probably benign	Het
Ccdc141	C	A	2: 76,869,794 (GRCm39)	D904Y	probably damaging	Het
Ccdc96	A	G	5: 36,642,591 (GRCm39)	K199R	probably benign	Het
Cdh10	G	A	15: 18,986,965 (GRCm39)	V399I	probably benign	Het
Cenpk	A	G	13: 104,370,733 (GRCm39)	T85A	probably benign	Het
Col6a2	A	C	10: 76,450,751 (GRCm39)	V60G	possibly damaging	Het
Cops7b	A	G	1: 86,526,753 (GRCm39)	D119G	probably benign	Het
Cstf2t	A	G	19: 31,061,676 (GRCm39)	E404G	possibly damaging	Het
Ctnna2	A	T	6: 77,630,052 (GRCm39)	V134E	probably damaging	Het
Cwh43	A	C	5: 73,574,085 (GRCm39)	M250L	probably benign	Het
Daam2	T	A	17: 49,776,449 (GRCm39)	K813*	probably null	Het
Dhcr24	G	A	4: 106,443,733 (GRCm39)		probably benign	Het
Dnah8	G	T	17: 30,920,955 (GRCm39)	R1182L	probably benign	Het
Doc2a	C	T	7: 126,447,830 (GRCm39)	P25S	probably damaging	Het
Dst	A	G	1: 34,317,116 (GRCm39)	S6823G	possibly damaging	Het
Espl1	T	A	15: 102,212,421 (GRCm39)	L509*	probably null	Het
Fbxw19	C	T	9: 109,315,134 (GRCm39)	V143I	probably benign	Het
Fbxw5	A	G	2: 25,394,538 (GRCm39)	T171A	possibly damaging	Het
Gfra2	C	T	14: 71,133,521 (GRCm39)	T117M	probably damaging	Het
Gm454	T	A	5: 138,202,403 (GRCm39)		noncoding transcript	Het
Ilrun	A	C	17: 28,005,207 (GRCm39)	Y117D	probably damaging	Het
Kcnq4	A	G	4: 120,574,705 (GRCm39)	S120P	probably damaging	Het
Krt84	A	T	15: 101,437,155 (GRCm39)	L336Q	probably damaging	Het
Lilra6	T	A	7: 3,917,774 (GRCm39)		probably benign	Het
Mbnl2	G	A	14: 120,562,736 (GRCm39)	R29H	probably damaging	Het
Mcm3ap	G	A	10: 76,338,539 (GRCm39)	G1389D	probably benign	Het
Muc6	A	G	7: 141,238,548 (GRCm39)	S30P	probably benign	Het
Myh7	T	A	14: 55,216,646 (GRCm39)	Q1237L	probably benign	Het
Myo9a	T	G	9: 59,802,619 (GRCm39)	D2035E	probably damaging	Het
Nat10	A	G	2: 103,578,572 (GRCm39)	S211P	probably damaging	Het
Ntm	T	C	9: 29,090,395 (GRCm39)	Y108C	probably damaging	Het
Or14c39	T	C	7: 86,344,434 (GRCm39)	Y257H	possibly damaging	Het
Or7g25	A	T	9: 19,160,248 (GRCm39)	L149*	probably null	Het
Pcdhb16	A	G	18: 37,613,422 (GRCm39)	D794G	probably benign	Het
Phlpp1	A	G	1: 106,267,345 (GRCm39)	T753A	probably benign	Het
Pierce1	T	C	2: 28,356,036 (GRCm39)		probably benign	Het
Pnldc1	T	C	17: 13,108,963 (GRCm39)	Q511R	possibly damaging	Het
Ppip5k2	A	G	1: 97,689,152 (GRCm39)	S38P	possibly damaging	Het
Pygb	A	G	2: 150,665,904 (GRCm39)	K593E	probably benign	Het
Rangap1	A	T	15: 81,589,664 (GRCm39)	F564I	probably damaging	Het
Rictor	A	T	15: 6,803,381 (GRCm39)	I498F	possibly damaging	Het
Rnase12	A	T	14: 51,294,613 (GRCm39)	V22D	probably benign	Het
Rpl7l1	T	A	17: 47,091,324 (GRCm39)	M93L	probably benign	Het
Smg1	T	C	7: 117,776,103 (GRCm39)	R1396G	possibly damaging	Het
Snx19	C	A	9: 30,347,133 (GRCm39)	T692N	probably damaging	Het
Spag6	A	G	2: 18,715,404 (GRCm39)	D61G	probably benign	Het
Spen	T	A	4: 141,206,647 (GRCm39)	N660I	unknown	Het
Sptan1	T	G	2: 29,918,684 (GRCm39)	C2246G	probably null	Het
Svopl	A	G	6: 38,013,642 (GRCm39)		probably benign	Het
Taf2	A	T	15: 54,928,078 (GRCm39)	N108K	probably benign	Het
Thbs4	T	C	13: 92,893,079 (GRCm39)	D703G	probably damaging	Het
Tle6	G	T	10: 81,434,457 (GRCm39)	N47K	possibly damaging	Het
Usp48	G	T	4: 137,343,722 (GRCm39)	V452L	probably benign	Het
Ust	A	T	10: 8,173,912 (GRCm39)	S198T	probably damaging	Het
Wnk2	T	A	13: 49,248,894 (GRCm39)	M386L	possibly damaging	Het
Ywhaq	T	C	12: 21,441,382 (GRCm39)		probably benign	Het
Zfp11	C	T	5: 129,735,302 (GRCm39)	G53E	possibly damaging	Het
Zfp316	A	G	5: 143,238,993 (GRCm39)	S1009P	probably damaging	Het
Zfp963	A	G	8: 70,197,156 (GRCm39)	Y29H	probably damaging	Het
Zmym4	A	G	4: 126,776,112 (GRCm39)		probably benign	Het
Zranb3	A	G	1: 128,019,607 (GRCm39)	I45T	probably 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
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
R5447:Mettl13	UTSW	1	162,363,449 (GRCm39)	missense	probably benign	0.01
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'- TCTGGCTGACAACTCTGCTTGAATG -3'
(R):5'- GCAGCACTATCCAGTGTGAGTGTG -3'

Sequencing Primer
(F):5'- GAATGCTTTCCATGCCAGCATAC -3'
(R):5'- ACACTCGAATTGCCCTCAGTC -3'

Posted On

2013-05-23