Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02632:Mettl22'

301373

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mettl22

Ensembl Gene

ENSMUSG00000039345

Gene Name

methyltransferase 22, Kin17 lysine

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02632

Quality Score

Status

Chromosome

Chromosomal Location

8288623-8308069 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 8302117 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000114563 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046470] [ENSMUST00000142899] [ENSMUST00000150790]

AlphaFold

Q8R1C6

Predicted Effect

probably benign
Transcript: ENSMUST00000046470

SMART Domains

Protein: ENSMUSP00000044108
Gene: ENSMUSG00000039345

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_16	154	337	4.3e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000104369

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133208

Predicted Effect

probably benign
Transcript: ENSMUST00000142899

SMART Domains

Protein: ENSMUSP00000120894
Gene: ENSMUSG00000039345

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_16	116	209	9.9e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000150790

SMART Domains

Protein: ENSMUSP00000114563
Gene: ENSMUSG00000039345

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_16	1	118	2.9e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151233

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the non-histone lysine methyltransferases. It interacts with its substrate, Kin17, which is involved in DNA repair and replication and mRNA processing. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	T	C	8: 41,208,237 (GRCm39)	V501A	possibly damaging	Het
Alpl	T	G	4: 137,481,217 (GRCm39)	N145T	probably damaging	Het
Aqp5	T	A	15: 99,491,216 (GRCm39)		probably benign	Het
Atp1a2	T	A	1: 172,108,181 (GRCm39)	D640V	possibly damaging	Het
Atp5po	T	C	16: 91,725,830 (GRCm39)	E49G	probably benign	Het
Card14	A	G	11: 119,229,730 (GRCm39)	D747G	probably benign	Het
Cfap47	A	T	X: 78,540,279 (GRCm39)	L553H	probably damaging	Het
Cpz	A	T	5: 35,669,155 (GRCm39)	D325E	possibly damaging	Het
Crim1	T	C	17: 78,680,103 (GRCm39)	I948T	probably benign	Het
Dpysl3	A	T	18: 43,526,090 (GRCm39)	S2T	possibly damaging	Het
Fat4	T	C	3: 39,056,913 (GRCm39)	V4203A	probably benign	Het
Gapvd1	G	A	2: 34,574,186 (GRCm39)		probably benign	Het
Gpatch2	A	G	1: 186,958,178 (GRCm39)	R155G	probably damaging	Het
Grpr	A	T	X: 162,298,090 (GRCm39)	V318E	probably damaging	Het
Hipk1	T	C	3: 103,667,861 (GRCm39)	T569A	probably benign	Het
Il3ra	G	A	14: 14,350,807 (GRCm38)		probably null	Het
Llgl2	A	G	11: 115,735,698 (GRCm39)	H98R	probably damaging	Het
Loxhd1	A	G	18: 77,493,628 (GRCm39)	D663G	probably damaging	Het
Lrrc71	T	C	3: 87,650,647 (GRCm39)	N205S	probably damaging	Het
Mamdc2	C	T	19: 23,308,340 (GRCm39)	E521K	probably benign	Het
Mapre2	A	G	18: 23,991,217 (GRCm39)	M162V	probably benign	Het
Mib2	T	C	4: 155,740,036 (GRCm39)	D739G	probably damaging	Het
Mroh2b	T	C	15: 4,960,583 (GRCm39)	F772S	probably damaging	Het
Mtss1	C	T	15: 58,815,864 (GRCm39)	M565I	probably damaging	Het
Myt1l	T	G	12: 29,964,292 (GRCm39)	S1077A	unknown	Het
Nalcn	T	C	14: 123,555,265 (GRCm39)	T873A	probably benign	Het
Nwd1	T	A	8: 73,394,082 (GRCm39)	H448Q	possibly damaging	Het
Odad2	A	G	18: 7,214,727 (GRCm39)		probably benign	Het
Or14j3	T	C	17: 37,901,232 (GRCm39)	E4G	probably benign	Het
Or51m1	A	G	7: 103,578,914 (GRCm39)	I295V	possibly damaging	Het
Or5j3	T	C	2: 86,128,904 (GRCm39)	V248A	probably damaging	Het
Palld	C	T	8: 61,968,279 (GRCm39)	E1096K	probably damaging	Het
Pdcd2	A	G	17: 15,742,054 (GRCm39)	V292A	probably damaging	Het
Pde2a	A	G	7: 101,153,863 (GRCm39)	Y477C	probably damaging	Het
Pramel16	A	G	4: 143,676,507 (GRCm39)	I199T	possibly damaging	Het
Rcbtb1	T	C	14: 59,462,131 (GRCm39)	L254P	probably damaging	Het
Rnf123	G	A	9: 107,945,501 (GRCm39)	R390*	probably null	Het
Rsl1	A	C	13: 67,330,227 (GRCm39)	H225P	probably damaging	Het
Sec14l2	T	C	11: 4,061,222 (GRCm39)	I80V	probably benign	Het
Sema6a	G	T	18: 47,423,222 (GRCm39)	D261E	probably damaging	Het
Serpinb9b	T	A	13: 33,223,806 (GRCm39)	S333T	probably benign	Het
Slc24a4	T	C	12: 102,200,941 (GRCm39)	V277A	probably benign	Het
Snap91	T	A	9: 86,721,575 (GRCm39)	H88L	possibly damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Tmprss15	T	A	16: 78,782,790 (GRCm39)	N758I	probably damaging	Het
Ube3b	C	T	5: 114,536,902 (GRCm39)	A300V	probably benign	Het
Vmn2r82	G	A	10: 79,192,542 (GRCm39)	V40I	probably benign	Het
Vsig4	G	T	X: 95,291,378 (GRCm39)	Q265K	probably benign	Het
Wdr91	T	C	6: 34,865,977 (GRCm39)	D525G	probably damaging	Het

Other mutations in Mettl22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01720:Mettl22	APN	16	8,302,117 (GRCm39)	splice site	probably benign
IGL02178:Mettl22	APN	16	8,296,146 (GRCm39)	missense	probably benign	0.01
R0535:Mettl22	UTSW	16	8,302,210 (GRCm39)	splice site	probably benign
R0840:Mettl22	UTSW	16	8,300,021 (GRCm39)	missense	probably damaging	0.99
R1473:Mettl22	UTSW	16	8,291,825 (GRCm39)	missense	probably damaging	1.00
R2422:Mettl22	UTSW	16	8,305,225 (GRCm39)	missense	probably damaging	0.99
R5166:Mettl22	UTSW	16	8,296,115 (GRCm39)	missense	probably benign	0.03
R5236:Mettl22	UTSW	16	8,306,597 (GRCm39)	nonsense	probably null
R6488:Mettl22	UTSW	16	8,305,225 (GRCm39)	missense	probably damaging	0.99
R6492:Mettl22	UTSW	16	8,306,755 (GRCm39)	splice site	probably null
R7179:Mettl22	UTSW	16	8,295,924 (GRCm39)	missense	probably benign	0.00
R7770:Mettl22	UTSW	16	8,303,764 (GRCm39)	missense	possibly damaging	0.93
R8159:Mettl22	UTSW	16	8,306,633 (GRCm39)	missense	probably benign	0.24
R8275:Mettl22	UTSW	16	8,303,792 (GRCm39)	missense	possibly damaging	0.94
R8810:Mettl22	UTSW	16	8,303,792 (GRCm39)	missense	probably damaging	1.00
R8815:Mettl22	UTSW	16	8,300,178 (GRCm39)	missense	probably benign	0.00
R9109:Mettl22	UTSW	16	8,305,231 (GRCm39)	missense	probably damaging	0.97

Posted On

2015-04-16