Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01723:Mettl9'

105177

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mettl9

Ensembl Gene

ENSMUSG00000030876

Gene Name

methyltransferase like 9

Synonyms

0610012D09Rik, Drev

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.131) question?

Stock #

IGL01723

Quality Score

Status

Chromosome

Chromosomal Location

120633668-120677552 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120651492 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 180 (I180T)

Ref Sequence

ENSEMBL: ENSMUSP00000033163 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033163] [ENSMUST00000207351]

AlphaFold

Q9EPL4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033163
AA Change: I180T

PolyPhen 2 Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000033163
Gene: ENSMUSG00000030876
AA Change: I180T

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	39	50	N/A	INTRINSIC
Pfam:DREV	56	317	1.4e-142	PFAM
Pfam:Methyltransf_23	123	289	2.7e-12	PFAM
Pfam:Methyltransf_12	150	236	9.1e-10	PFAM
Pfam:Methyltransf_11	150	238	9.4e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207332

Predicted Effect

probably benign
Transcript: ENSMUST00000207351
AA Change: I69T

PolyPhen 2 Score 0.200 (Sensitivity: 0.92; Specificity: 0.88)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208157

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	G	A	1: 71,353,327 (GRCm39)	A705V	probably benign	Het
Abcc10	A	T	17: 46,624,671 (GRCm39)	C728S	probably damaging	Het
Alms1	G	A	6: 85,605,076 (GRCm39)	R1773Q	probably benign	Het
C030048H21Rik	A	G	2: 26,144,780 (GRCm39)	S1316P	possibly damaging	Het
Cd86	A	G	16: 36,427,486 (GRCm39)	L281S	probably benign	Het
Cdon	C	T	9: 35,414,634 (GRCm39)	P1170S	probably benign	Het
Col11a2	T	A	17: 34,280,254 (GRCm39)		probably benign	Het
Cspg4b	A	T	13: 113,504,091 (GRCm39)	Q198L	possibly damaging	Het
Cyp2j12	A	G	4: 95,990,363 (GRCm39)	V401A	possibly damaging	Het
Cyp7a1	A	T	4: 6,272,442 (GRCm39)	I257N	probably damaging	Het
Ddhd2	A	T	8: 26,225,038 (GRCm39)	L593*	probably null	Het
Dnah8	T	C	17: 30,927,445 (GRCm39)	L1367S	probably damaging	Het
Dsg4	G	A	18: 20,599,567 (GRCm39)	V728M	probably damaging	Het
Dsp	G	A	13: 38,363,060 (GRCm39)	V447M	probably damaging	Het
Epx	C	T	11: 87,760,228 (GRCm39)	R462H	probably damaging	Het
Fgf18	T	C	11: 33,084,332 (GRCm39)	T41A	probably damaging	Het
Fh1	G	T	1: 175,429,108 (GRCm39)	A469D	probably damaging	Het
Hcn1	A	C	13: 118,112,591 (GRCm39)	S852R	probably damaging	Het
Hmcn1	A	T	1: 150,620,711 (GRCm39)	S1166R	probably benign	Het
Krt78	C	T	15: 101,860,233 (GRCm39)	G228S	possibly damaging	Het
Lrrn4	T	C	2: 132,711,981 (GRCm39)	E614G	possibly damaging	Het
Mgat2	A	G	12: 69,232,415 (GRCm39)	T330A	probably damaging	Het
Mtcl2	T	C	2: 156,872,534 (GRCm39)	M938V	probably benign	Het
Myh13	T	C	11: 67,260,045 (GRCm39)		probably benign	Het
Nipbl	G	A	15: 8,364,555 (GRCm39)	T1283I	possibly damaging	Het
Nxpe4	A	G	9: 48,309,898 (GRCm39)	D387G	probably benign	Het
Or1e23	T	A	11: 73,407,452 (GRCm39)	D191V	probably damaging	Het
Or5aq1	A	G	2: 86,965,822 (GRCm39)	V281A	probably benign	Het
Pcdhb5	T	G	18: 37,454,075 (GRCm39)	S152A	probably benign	Het
Pcnt	C	T	10: 76,254,333 (GRCm39)	R832H	possibly damaging	Het
Ptprd	A	C	4: 76,161,910 (GRCm39)	S108R	probably damaging	Het
Ryr3	C	T	2: 112,480,456 (GRCm39)		probably null	Het
Slc22a4	C	T	11: 53,879,671 (GRCm39)	V463M	probably benign	Het
Ttn	T	A	2: 76,560,746 (GRCm39)	L29218F	probably damaging	Het
Ttn	A	T	2: 76,560,748 (GRCm39)	L29218I	probably damaging	Het
Vmn2r44	T	A	7: 8,380,915 (GRCm39)	H326L	probably damaging	Het
Vps13d	A	T	4: 144,899,715 (GRCm39)	M188K	possibly damaging	Het

Other mutations in Mettl9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00491:Mettl9	APN	7	120,651,336 (GRCm39)	missense	probably damaging	1.00
PIT4402001:Mettl9	UTSW	7	120,656,440 (GRCm39)	missense	probably damaging	0.99
R0401:Mettl9	UTSW	7	120,675,536 (GRCm39)	missense	probably damaging	1.00
R1004:Mettl9	UTSW	7	120,675,460 (GRCm39)	missense	probably benign	0.00
R1734:Mettl9	UTSW	7	120,647,064 (GRCm39)	missense	probably damaging	1.00
R5574:Mettl9	UTSW	7	120,647,093 (GRCm39)	missense	probably benign	0.03
R7913:Mettl9	UTSW	7	120,675,524 (GRCm39)	missense	probably damaging	1.00
R8913:Mettl9	UTSW	7	120,675,539 (GRCm39)	missense	probably damaging	1.00
R9446:Mettl9	UTSW	7	120,675,531 (GRCm39)	missense	possibly damaging	0.77
Z1177:Mettl9	UTSW	7	120,656,553 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-01-21