Mutagenetix > Incidental Mutation

Incidental Mutation 'R9496:Mettl16'

717229

Institutional Source

Beutler Lab

Gene Symbol

Mettl16

Ensembl Gene

ENSMUSG00000010554

Gene Name

methyltransferase 16, N6-methyladenosine

Synonyms

2810013M15Rik, 2610100D03Rik, A830095F14Rik, Mett10d

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9496 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

74661658-74716649 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 74707696 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 337 (S337P)

Ref Sequence

ENSEMBL: ENSMUSP00000010698 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010698] [ENSMUST00000092912] [ENSMUST00000141755]

AlphaFold

Q9CQG2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000010698
AA Change: S337P

PolyPhen 2 Score 0.510 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000010698
Gene: ENSMUSG00000010554
AA Change: S337P

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_10	1	268	2.9e-114	PFAM
Pfam:MTS	92	202	1.8e-7	PFAM
Pfam:Methyltransf_10	276	331	5.5e-21	PFAM
low complexity region	421	437	N/A	INTRINSIC
low complexity region	497	518	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000092912

SMART Domains

Protein: ENSMUSP00000090590
Gene: ENSMUSG00000010554

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_10	1	211	7.8e-97	PFAM
Pfam:PrmA	85	185	6.5e-7	PFAM
Pfam:MTS	92	200	1.4e-6	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000141755
AA Change: S297P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000114682
Gene: ENSMUSG00000010554
AA Change: S297P

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_10	1	291	4.8e-138	PFAM
low complexity region	381	397	N/A	INTRINSIC
low complexity region	457	478	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atg2a	A	T	19: 6,310,022 (GRCm39)	Q1735L	possibly damaging	Het
Brpf3	A	G	17: 29,040,453 (GRCm39)	D958G	probably benign	Het
Cacna1g	A	G	11: 94,356,711 (GRCm39)	F142L	probably benign	Het
Calcoco1	C	T	15: 102,619,876 (GRCm39)	A303T	probably benign	Het
Chat	C	A	14: 32,148,119 (GRCm39)	C306F	probably benign	Het
Ciita	T	G	16: 10,298,009 (GRCm39)	M1R	probably null	Het
Ckap2l	A	C	2: 129,112,595 (GRCm39)	S638A	probably benign	Het
Coro1c	C	T	5: 113,983,337 (GRCm39)	G397D	probably benign	Het
Cyb5r2	A	G	7: 107,353,954 (GRCm39)	V72A	probably damaging	Het
Cyp2t4	G	A	7: 26,854,717 (GRCm39)	V66M	possibly damaging	Het
Dcbld2	A	G	16: 58,271,164 (GRCm39)	T314A	probably benign	Het
Dcun1d4	T	G	5: 73,668,272 (GRCm39)	H37Q	probably damaging	Het
Dgkd	T	A	1: 87,857,464 (GRCm39)	S725R	probably benign	Het
Dhx29	T	C	13: 113,089,460 (GRCm39)	Y744H	probably damaging	Het
Ect2l	T	C	10: 18,004,885 (GRCm39)	N916S	probably damaging	Het
Ep400	T	C	5: 110,855,853 (GRCm39)	K1287E	unknown	Het
Epo	C	T	5: 137,482,401 (GRCm39)	V89I	probably benign	Het
Fbxw15	A	T	9: 109,397,291 (GRCm39)	I3N	probably benign	Het
Fcgr3	A	C	1: 170,879,386 (GRCm39)	Y219D	possibly damaging	Het
Fign	A	T	2: 63,809,253 (GRCm39)	C672*	probably null	Het
Fsip2	A	T	2: 82,793,062 (GRCm39)	R406S	probably benign	Het
Gli2	A	G	1: 118,764,425 (GRCm39)	V1242A	probably benign	Het
Gm10577	C	T	4: 100,877,745 (GRCm39)	C50Y	unknown	Het
Gm11568	GCTGCTGCCAGCCCTGCTGCCAGCCC	GCTGCTGCCAGCCCTGCTGCCAGCCCTGCTGCCAGCCC	11: 99,749,044 (GRCm39)		probably benign	Het
Grid1	T	C	14: 35,291,571 (GRCm39)	L826P	probably damaging	Het
Hmcn1	T	C	1: 150,579,971 (GRCm39)	D1922G	probably benign	Het
Itga2b	C	T	11: 102,358,629 (GRCm39)	C96Y	probably damaging	Het
Itih2	A	T	2: 10,106,984 (GRCm39)	I670N	probably benign	Het
Lypla1	A	T	1: 4,898,813 (GRCm39)		probably benign	Het
Myh11	G	A	16: 14,048,616 (GRCm39)	Q564*	probably null	Het
Myrf	A	G	19: 10,193,840 (GRCm39)	F529L	probably benign	Het
Nell2	T	G	15: 95,194,097 (GRCm39)	I539L	probably benign	Het
Nfxl1	A	T	5: 72,685,502 (GRCm39)	V646E	possibly damaging	Het
Nin	T	C	12: 70,102,762 (GRCm39)	T289A		Het
Obsl1	C	T	1: 75,467,484 (GRCm39)	C1430Y	probably damaging	Het
Otog	T	C	7: 45,890,505 (GRCm39)	L18P	unknown	Het
Pkd1l1	C	A	11: 8,783,773 (GRCm39)		probably null	Het
Pum1	T	C	4: 130,446,664 (GRCm39)		probably null	Het
Rhbdl1	A	T	17: 26,055,371 (GRCm39)		probably null	Het
Rmdn2	T	A	17: 79,975,425 (GRCm39)	L305I	possibly damaging	Het
Scn3a	A	G	2: 65,312,493 (GRCm39)		probably null	Het
Shtn1	G	T	19: 58,963,457 (GRCm39)	S619R	probably damaging	Het
Smpd1	G	A	7: 105,205,202 (GRCm39)		probably null	Het
Tepsin	A	G	11: 119,982,357 (GRCm39)	L571S	probably damaging	Het
Tm7sf3	C	T	6: 146,525,179 (GRCm39)	D89N	possibly damaging	Het
Tssk5	T	C	15: 76,258,856 (GRCm39)	D10G	probably benign	Het
Usp39	A	G	6: 72,302,759 (GRCm39)	Y432H	probably benign	Het
Vmn2r97	T	A	17: 19,149,227 (GRCm39)	V205D	probably damaging	Het
Vwa8	T	C	14: 79,258,122 (GRCm39)	V757A	probably benign	Het
Zc2hc1b	A	T	10: 13,044,540 (GRCm39)	F41Y	probably damaging	Het
Zfp1007	A	G	5: 109,823,924 (GRCm39)	S509P	probably damaging	Het
Zfp114	A	T	7: 23,880,463 (GRCm39)	S271C	possibly damaging	Het

Other mutations in Mettl16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00945:Mettl16	APN	11	74,708,192 (GRCm39)	missense	probably benign	0.11
IGL01538:Mettl16	APN	11	74,683,093 (GRCm39)	nonsense	probably null
IGL01893:Mettl16	APN	11	74,696,097 (GRCm39)	missense	possibly damaging	0.84
IGL02079:Mettl16	APN	11	74,708,450 (GRCm39)	missense	probably damaging	1.00
IGL03217:Mettl16	APN	11	74,708,529 (GRCm39)	missense	probably damaging	1.00
R2014:Mettl16	UTSW	11	74,708,195 (GRCm39)	missense	probably benign
R2117:Mettl16	UTSW	11	74,693,755 (GRCm39)	missense	probably benign
R4042:Mettl16	UTSW	11	74,683,118 (GRCm39)	missense	probably damaging	1.00
R4773:Mettl16	UTSW	11	74,708,127 (GRCm39)	missense	possibly damaging	0.49
R5031:Mettl16	UTSW	11	74,693,825 (GRCm39)	missense	probably benign
R5056:Mettl16	UTSW	11	74,707,766 (GRCm39)	missense	probably benign	0.34
R5951:Mettl16	UTSW	11	74,686,823 (GRCm39)	missense	possibly damaging	0.71
R5986:Mettl16	UTSW	11	74,683,063 (GRCm39)	missense	possibly damaging	0.51
R6012:Mettl16	UTSW	11	74,678,474 (GRCm39)	missense	probably damaging	1.00
R6314:Mettl16	UTSW	11	74,686,832 (GRCm39)	nonsense	probably null
R6450:Mettl16	UTSW	11	74,696,164 (GRCm39)	missense	probably benign	0.02
R7744:Mettl16	UTSW	11	74,693,829 (GRCm39)	missense	probably benign	0.08
R7959:Mettl16	UTSW	11	74,707,852 (GRCm39)	missense	probably benign	0.08
R8086:Mettl16	UTSW	11	74,696,091 (GRCm39)	missense	probably benign	0.03
R8160:Mettl16	UTSW	11	74,708,505 (GRCm39)	missense	probably damaging	0.99
R9180:Mettl16	UTSW	11	74,693,826 (GRCm39)	missense	probably benign	0.21
R9257:Mettl16	UTSW	11	74,708,127 (GRCm39)	missense	possibly damaging	0.49
R9327:Mettl16	UTSW	11	74,696,089 (GRCm39)	missense	probably benign	0.25
X0012:Mettl16	UTSW	11	74,707,851 (GRCm39)	missense	probably benign	0.02
X0028:Mettl16	UTSW	11	74,707,870 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GTGGTAAAGTTTTCTCCCAGAGC -3'
(R):5'- AGGGAATTCGCTTATGTTGCAC -3'

Sequencing Primer
(F):5'- CTGGCTTCAGCATCAGAAAGAACATG -3'
(R):5'- TCACGATGGTAAAGGCCAC -3'

Posted On

2022-07-18