Mutagenetix > Incidental Mutation

Incidental Mutation 'R0723:Mettl13'

63585

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

038905-MU

Accession Numbers

Essential gene?

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

Stock #

R0723 (G1)

Quality Score

165

Status

Validated

Chromosome

Chromosomal Location

162359694-162376098 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 162361999 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 648 (I648N)

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: I648N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000028017
Gene: ENSMUSG00000026694
AA Change: I648N

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

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

Meta Mutation Damage Score

0.5858

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.7%
20x: 96.0%

Validation Efficiency

99% (69/70)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	T	7: 40,642,480 (GRCm39)	T141S	probably benign	Het
Acbd5	T	G	2: 22,959,608 (GRCm39)	V54G	probably damaging	Het
Acin1	A	T	14: 54,902,908 (GRCm39)	S255T	probably damaging	Het
Adcy2	A	G	13: 69,147,248 (GRCm39)	L56P	probably damaging	Het
Akap6	G	T	12: 53,188,685 (GRCm39)	C2033F	probably damaging	Het
Ano5	A	G	7: 51,237,506 (GRCm39)	I777V	probably benign	Het
Arhgef28	A	G	13: 98,075,987 (GRCm39)	V1349A	probably benign	Het
Atosa	G	A	9: 74,916,733 (GRCm39)	G444E	probably damaging	Het
Bank1	T	C	3: 135,760,164 (GRCm39)		probably null	Het
C2cd5	T	C	6: 142,987,281 (GRCm39)		probably benign	Het
Cadps2	A	G	6: 23,287,697 (GRCm39)	V1161A	probably damaging	Het
Car8	A	T	4: 8,169,703 (GRCm39)	D268E	probably benign	Het
Ciao3	G	A	17: 26,000,795 (GRCm39)	V406M	probably damaging	Het
Ckap5	T	A	2: 91,385,676 (GRCm39)	S175T	probably damaging	Het
Clk4	T	A	11: 51,166,320 (GRCm39)	Y67*	probably null	Het
Copg2	T	C	6: 30,792,917 (GRCm39)	I473V	possibly damaging	Het
Cstdc1	T	C	2: 148,625,282 (GRCm39)	I72T	probably damaging	Het
Cyp2s1	C	T	7: 25,508,973 (GRCm39)	V43I	probably benign	Het
Ddx54	A	G	5: 120,761,703 (GRCm39)	D493G	probably benign	Het
Efemp2	T	C	19: 5,530,078 (GRCm39)	S140P	probably damaging	Het
Fat1	C	A	8: 45,479,786 (GRCm39)	T2944K	probably damaging	Het
Fgfr1	T	A	8: 26,047,784 (GRCm39)	D43E	probably damaging	Het
Fry	G	A	5: 150,419,825 (GRCm39)	A996T	probably damaging	Het
Fyb2	G	A	4: 104,873,063 (GRCm39)	V784I	probably benign	Het
Gm6507	T	A	6: 89,162,144 (GRCm39)		noncoding transcript	Het
Gm7964	T	C	7: 83,405,374 (GRCm39)		noncoding transcript	Het
Gucy2c	T	C	6: 136,704,799 (GRCm39)		probably null	Het
Hdac10	A	T	15: 89,010,621 (GRCm39)	L259Q	probably damaging	Het
Hoxd9	A	T	2: 74,529,172 (GRCm39)	D258V	probably damaging	Het
Hs3st3b1	T	C	11: 63,812,401 (GRCm39)	T105A	probably benign	Het
Hsd17b7	A	G	1: 169,783,595 (GRCm39)	L271P	probably damaging	Het
Ifnlr1	T	A	4: 135,428,524 (GRCm39)		probably benign	Het
Kif22	A	T	7: 126,633,078 (GRCm39)	M121K	probably damaging	Het
Kl	G	A	5: 150,876,566 (GRCm39)	D129N	probably damaging	Het
Mlh1	C	T	9: 111,100,540 (GRCm39)	R18H	probably damaging	Het
Mtmr14	T	C	6: 113,247,473 (GRCm39)		probably benign	Het
Myo15a	C	A	11: 60,369,803 (GRCm39)	N854K	possibly damaging	Het
Myo1h	T	C	5: 114,457,741 (GRCm39)	I84T	probably benign	Het
Myo9a	A	T	9: 59,778,383 (GRCm39)	S1380C	probably benign	Het
Myof	A	G	19: 37,969,708 (GRCm39)	V318A	probably damaging	Het
N4bp2l2	A	G	5: 150,585,897 (GRCm39)	S28P	probably damaging	Het
Nbr1	C	T	11: 101,467,145 (GRCm39)	Q570*	probably null	Het
Nhp2	C	T	11: 51,510,750 (GRCm39)	Q36*	probably null	Het
Or1e17	T	G	11: 73,831,096 (GRCm39)	V8G	probably benign	Het
Or8b37	G	T	9: 37,959,123 (GRCm39)	V202L	probably benign	Het
Poc1b	T	A	10: 98,965,457 (GRCm39)	W129R	probably damaging	Het
Potegl	T	C	2: 23,146,936 (GRCm39)		probably benign	Het
Rapgef2	C	T	3: 78,986,481 (GRCm39)	E1018K	probably benign	Het
Rgs12	T	C	5: 35,181,710 (GRCm39)		probably benign	Het
Rufy2	G	A	10: 62,833,873 (GRCm39)	V280I	probably benign	Het
Snx2	A	G	18: 53,343,444 (GRCm39)	I281V	probably benign	Het
Spag5	C	A	11: 78,210,410 (GRCm39)		probably benign	Het
Spata31g1	T	A	4: 42,971,691 (GRCm39)	N341K	probably damaging	Het
Stxbp5	A	T	10: 9,644,617 (GRCm39)	I961N	probably damaging	Het
Tet2	T	C	3: 133,173,045 (GRCm39)	E1739G	probably benign	Het
Tmod2	A	G	9: 75,502,337 (GRCm39)	F50S	possibly damaging	Het
Tnfsf13b	T	G	8: 10,057,166 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,616,679 (GRCm39)	K16525E	possibly damaging	Het
Txnrd2	T	C	16: 18,259,629 (GRCm39)		probably benign	Het
Ubr1	A	T	2: 120,711,582 (GRCm39)	Y1437*	probably null	Het
Vwf	C	A	6: 125,543,225 (GRCm39)	D170E	probably benign	Het
Wdr95	C	G	5: 149,497,513 (GRCm39)	I230M	probably damaging	Het
Xirp2	C	T	2: 67,342,559 (GRCm39)	S1600F	probably damaging	Het
Zfp12	A	G	5: 143,230,638 (GRCm39)	K322E	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
R0423:Mettl13	UTSW	1	162,371,954 (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'- TGGACAGAAAGCTGAGTTGCCTG -3'
(R):5'- ACTGTGGAAACCATCAAGGCTGAAG -3'

Sequencing Primer
(F):5'- CTGAGTTGCCTGGCCCC -3'
(R):5'- CCATCAAGGCTGAAGTTTTCTTACAC -3'

Posted On

2013-07-30