Mutagenetix > Incidental Mutation

Incidental Mutation 'R8901:Mettl13'

679943

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

068758-MU

Accession Numbers

Essential gene?

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

Stock #

R8901 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

162359694-162376098 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 162373814 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 95 (V95I)

Ref Sequence

ENSEMBL: ENSMUSP00000135822 (fasta)

Gene Model

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

AlphaFold

Q91YR5

Predicted Effect

probably benign
Transcript: ENSMUST00000028017
AA Change: V146I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000028017
Gene: ENSMUSG00000026694
AA Change: V146I

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

possibly damaging
Transcript: ENSMUST00000159316
AA Change: V95I

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000135822
Gene: ENSMUSG00000026694
AA Change: V95I

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

Meta Mutation Damage Score

0.0581

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.8%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adprm	T	C	11: 66,932,564 (GRCm39)	N115S	probably damaging	Het
Agbl5	T	C	5: 31,048,435 (GRCm39)	V169A	possibly damaging	Het
Ajuba	T	C	14: 54,807,830 (GRCm39)		probably benign	Het
Ankrd27	G	A	7: 35,332,243 (GRCm39)		probably benign	Het
Brat1	T	A	5: 140,698,608 (GRCm39)	M260K	probably benign	Het
Btbd6	G	T	12: 112,940,220 (GRCm39)		probably benign	Het
Cenpf	C	T	1: 189,394,248 (GRCm39)	G503S	probably benign	Het
Ces1e	C	T	8: 93,937,103 (GRCm39)	D323N	probably damaging	Het
Chrna5	T	C	9: 54,911,737 (GRCm39)	F75S	probably damaging	Het
Clmn	A	T	12: 104,747,211 (GRCm39)	S779T	probably benign	Het
Cntnap5c	T	A	17: 58,637,156 (GRCm39)	M1011K	probably benign	Het
Col11a2	A	T	17: 34,262,254 (GRCm39)	I164F	probably damaging	Het
Daw1	A	C	1: 83,183,643 (GRCm39)	K231T	possibly damaging	Het
Dnah5	T	G	15: 28,365,715 (GRCm39)	M2637R	possibly damaging	Het
Dsp	G	A	13: 38,365,155 (GRCm39)	V513M	probably damaging	Het
Eea1	T	G	10: 95,825,431 (GRCm39)	I42R	probably damaging	Het
Ehd4	A	T	2: 119,932,805 (GRCm39)	I207N	probably damaging	Het
F11	T	C	8: 45,701,851 (GRCm39)	T320A	probably benign	Het
Fhdc1	T	A	3: 84,352,874 (GRCm39)	M784L	probably benign	Het
Gm21411	G	A	4: 146,982,171 (GRCm39)	Q10*	probably null	Het
Gnao1	T	C	8: 94,694,687 (GRCm39)	M70T	probably benign	Het
Gtf2i	A	G	5: 134,324,389 (GRCm39)	F25S	probably damaging	Het
H2-T3	A	T	17: 36,498,252 (GRCm39)	D220E	probably damaging	Het
Hnrnpul2	T	G	19: 8,801,809 (GRCm39)	L339R	probably damaging	Het
Impg2	A	T	16: 56,072,528 (GRCm39)	D320V	probably damaging	Het
Itga2b	A	T	11: 102,351,630 (GRCm39)	L565Q	probably damaging	Het
Jph3	A	T	8: 122,457,561 (GRCm39)	Q67L	probably damaging	Het
Khnyn	T	C	14: 56,124,043 (GRCm39)	F99S	probably damaging	Het
Lhcgr	A	T	17: 89,063,030 (GRCm39)	L214Q	probably damaging	Het
Lix1l	C	A	3: 96,508,745 (GRCm39)		probably benign	Het
Nod2	C	T	8: 89,390,437 (GRCm39)	T226M	probably damaging	Het
Nwd2	T	C	5: 63,963,685 (GRCm39)	W1090R	probably damaging	Het
Or2y1c	A	T	11: 49,361,035 (GRCm39)	D19V	probably damaging	Het
Pla2r1	C	A	2: 60,332,400 (GRCm39)	V481F		Het
Polr1b	T	A	2: 128,967,595 (GRCm39)	V996E	probably damaging	Het
Ppfia3	T	A	7: 44,991,141 (GRCm39)	R1027W	probably damaging	Het
Pramel21	A	T	4: 143,343,677 (GRCm39)	I326F	probably benign	Het
Rap1gds1	T	C	3: 138,663,305 (GRCm39)	D298G	probably damaging	Het
Rlf	T	C	4: 121,004,010 (GRCm39)	T1767A	possibly damaging	Het
Scn3a	C	T	2: 65,352,252 (GRCm39)	V353M	probably benign	Het
Setd1b	T	C	5: 123,299,114 (GRCm39)		probably benign	Het
Slc25a42	A	G	8: 70,646,799 (GRCm39)	V19A	probably benign	Het
Smarcal1	T	C	1: 72,624,939 (GRCm39)	S29P	possibly damaging	Het
Sntb2	T	C	8: 107,737,975 (GRCm39)	F508L	possibly damaging	Het
Speer4a3	CTTT	C	5: 26,155,857 (GRCm39)		probably benign	Het
Syt15	G	T	14: 33,948,028 (GRCm39)	R291L	probably damaging	Het
Tas2r114	T	A	6: 131,666,914 (GRCm39)	N38I	probably damaging	Het
Tg	T	A	15: 66,557,184 (GRCm39)	N948K	probably damaging	Het
Tmem115	A	G	9: 107,411,993 (GRCm39)		probably benign	Het
Ttll8	C	T	15: 88,818,146 (GRCm39)	D175N	probably benign	Het
Txk	T	A	5: 72,858,050 (GRCm39)	Y398F	probably damaging	Het
Wdr36	C	A	18: 32,980,013 (GRCm39)	T246K	probably damaging	Het
Wdr43	A	T	17: 71,932,461 (GRCm39)	R113S	probably benign	Het
Ybx1	T	C	4: 119,138,785 (GRCm39)	Y239C	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
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
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'- TGAACTTAGTCATGACGAAGGC -3'
(R):5'- TCGACATCAGCGAGGTTGTC -3'

Sequencing Primer
(F):5'- CTTAGTCATGACGAAGGCAAAGAC -3'
(R):5'- CATCAGCGAGGTTGTCATCAAG -3'

Posted On

2021-08-31