Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02111:Mettl17'

280154

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mettl17

Ensembl Gene

ENSMUSG00000004561

Gene Name

methyltransferase like 17

Synonyms

D14Ertd209e, Mett11d1, 2310032K15Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

IGL02111

Quality Score

Status

Chromosome

Chromosomal Location

52122299-52129325 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 52128843 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 371 (E371G)

Ref Sequence

ENSEMBL: ENSMUSP00000047720 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047726] [ENSMUST00000047899] [ENSMUST00000164252] [ENSMUST00000164902] [ENSMUST00000165100] [ENSMUST00000168217] [ENSMUST00000165568]

AlphaFold

Q3U2U7

Predicted Effect

probably benign
Transcript: ENSMUST00000047726

SMART Domains

Protein: ENSMUSP00000038707
Gene: ENSMUSG00000072572

Domain	Start	End	E-Value	Type
Pfam:Zip	5	306	1.1e-59	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000047899
AA Change: E371G

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

SMART Domains

Protein: ENSMUSP00000047720
Gene: ENSMUSG00000004561
AA Change: E371G

Domain	Start	End	E-Value	Type
low complexity region	8	21	N/A	INTRINSIC
low complexity region	63	76	N/A	INTRINSIC
Pfam:Rsm22	153	442	8e-65	PFAM
Pfam:Methyltransf_11	191	293	5.9e-7	PFAM
low complexity region	446	460	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000077846

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160668

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163603

Predicted Effect

probably benign
Transcript: ENSMUST00000164252

SMART Domains

Protein: ENSMUSP00000130038
Gene: ENSMUSG00000004561

Domain	Start	End	E-Value	Type
low complexity region	8	21	N/A	INTRINSIC
low complexity region	63	76	N/A	INTRINSIC
Pfam:Rsm22	153	235	2.1e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164801

Predicted Effect

probably damaging
Transcript: ENSMUST00000164902
AA Change: E371G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000130200
Gene: ENSMUSG00000004561
AA Change: E371G

Domain	Start	End	E-Value	Type
low complexity region	8	21	N/A	INTRINSIC
low complexity region	63	76	N/A	INTRINSIC
Pfam:Rsm22	153	467	1.7e-61	PFAM
Pfam:Methyltransf_11	191	294	3.6e-6	PFAM
low complexity region	471	485	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166408

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168413

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169019

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165150

Predicted Effect

probably benign
Transcript: ENSMUST00000165100

SMART Domains

Protein: ENSMUSP00000132354
Gene: ENSMUSG00000004561

Domain	Start	End	E-Value	Type
low complexity region	8	21	N/A	INTRINSIC
low complexity region	63	76	N/A	INTRINSIC
Pfam:Rsm22	153	235	2.1e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000168217

SMART Domains

Protein: ENSMUSP00000130565
Gene: ENSMUSG00000004561

Domain	Start	End	E-Value	Type
low complexity region	8	21	N/A	INTRINSIC
low complexity region	63	76	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000165568

SMART Domains

Protein: ENSMUSP00000129973
Gene: ENSMUSG00000004561

Domain	Start	End	E-Value	Type
Pfam:Rsm22	100	269	1.5e-37	PFAM
Pfam:Methyltransf_11	138	240	2.1e-7	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg3	G	A	8: 95,761,627 (GRCm39)	R130Q	probably damaging	Het
Adipor2	A	T	6: 119,347,157 (GRCm39)	L42*	probably null	Het
Ankrd45	A	G	1: 160,990,921 (GRCm39)	K259E	probably damaging	Het
Apoc3	T	C	9: 46,145,772 (GRCm39)	K79R	possibly damaging	Het
Arhgap40	T	C	2: 158,381,764 (GRCm39)	Y416H	probably damaging	Het
Armc5	A	G	7: 127,843,255 (GRCm39)	T683A	probably benign	Het
Bora	T	C	14: 99,284,813 (GRCm39)	V21A	probably damaging	Het
Cacna1b	C	T	2: 24,497,003 (GRCm39)	S2189N	probably damaging	Het
Cct2	G	A	10: 116,889,017 (GRCm39)	T57I	probably damaging	Het
Cd200r1	A	T	16: 44,609,144 (GRCm39)	N34Y	probably damaging	Het
Cd300ld2	T	A	11: 114,903,219 (GRCm39)		probably benign	Het
Cntnap5a	G	A	1: 116,017,082 (GRCm39)	R225H	probably benign	Het
Cntnap5c	A	T	17: 58,409,103 (GRCm39)	D447V	probably damaging	Het
Cpne7	T	C	8: 123,852,392 (GRCm39)		probably benign	Het
Dap3	G	A	3: 88,836,725 (GRCm39)	T92I	probably benign	Het
Dnmbp	A	G	19: 43,855,994 (GRCm39)	L254P	probably damaging	Het
Egfem1	G	A	3: 29,705,045 (GRCm39)		probably null	Het
Fam120b	T	C	17: 15,622,847 (GRCm39)	L275P	possibly damaging	Het
Fam161a	A	T	11: 22,970,026 (GRCm39)	H68L	probably benign	Het
Fam193a	A	G	5: 34,568,001 (GRCm39)	E100G	possibly damaging	Het
Ftmt	A	T	18: 52,465,125 (GRCm39)	D147V	possibly damaging	Het
Gm10136	T	C	19: 28,981,122 (GRCm39)	K41E	probably benign	Het
Gm10797	C	T	10: 67,408,397 (GRCm39)		noncoding transcript	Het
Hsf1	A	G	15: 76,380,281 (GRCm39)		probably benign	Het
Ipo8	A	G	6: 148,701,278 (GRCm39)	V514A	probably damaging	Het
Itfg2	T	C	6: 128,387,344 (GRCm39)	H422R	probably benign	Het
Lrp4	G	T	2: 91,336,404 (GRCm39)	L1738F	probably damaging	Het
Matcap2	T	C	9: 22,335,475 (GRCm39)	I31T	probably benign	Het
Mfsd6	A	T	1: 52,747,503 (GRCm39)	L454Q	probably damaging	Het
Myh10	A	T	11: 68,680,938 (GRCm39)	E956V	probably damaging	Het
Ncoa1	A	T	12: 4,324,944 (GRCm39)	M1K	probably null	Het
Or2d3c	A	C	7: 106,525,823 (GRCm39)	V281G	probably damaging	Het
Or52e4	A	G	7: 104,706,152 (GRCm39)	D233G	probably benign	Het
Or5d36	T	A	2: 87,901,571 (GRCm39)	N52Y	probably benign	Het
Otop1	T	A	5: 38,435,045 (GRCm39)	C89S	probably benign	Het
Pitrm1	G	T	13: 6,623,181 (GRCm39)	R775L	probably benign	Het
Prpf19	A	G	19: 10,882,458 (GRCm39)	T512A	probably benign	Het
Prpf4b	T	A	13: 35,067,944 (GRCm39)	S258T	probably benign	Het
Rhbdl2	T	C	4: 123,716,630 (GRCm39)	Y196H	probably damaging	Het
Rnf187	T	C	11: 58,828,006 (GRCm39)	D148G	probably damaging	Het
Sbds	A	G	5: 130,279,782 (GRCm39)	I74T	probably damaging	Het
Sec63	T	C	10: 42,686,884 (GRCm39)	V468A	probably damaging	Het
Slc35b3	A	T	13: 39,139,758 (GRCm39)	M23K	probably damaging	Het
Slc6a9	A	T	4: 117,721,210 (GRCm39)	Y208F	probably benign	Het
Slfn8	A	T	11: 82,895,324 (GRCm39)	L494Q	probably damaging	Het
Sorcs1	T	G	19: 50,218,683 (GRCm39)	M600L	probably benign	Het
Supt7l	T	C	5: 31,673,022 (GRCm39)		probably null	Het
Tecrl	T	A	5: 83,502,639 (GRCm39)	Q70L	probably damaging	Het
Tedc2	A	T	17: 24,437,140 (GRCm39)		probably benign	Het
Tespa1	A	G	10: 130,191,353 (GRCm39)	D99G	probably damaging	Het
Tmem126b	G	T	7: 90,118,269 (GRCm39)	Q204K	probably damaging	Het
Tmem181c-ps	A	T	17: 6,887,766 (GRCm39)		noncoding transcript	Het
Tmem184a	G	T	5: 139,798,856 (GRCm39)	T31K	possibly damaging	Het
Tmprss11e	T	A	5: 86,867,660 (GRCm39)	I137F	possibly damaging	Het
Tmprss13	C	T	9: 45,247,403 (GRCm39)	T255I	probably damaging	Het
Top1mt	G	A	15: 75,537,555 (GRCm39)		probably benign	Het
Treh	C	T	9: 44,594,258 (GRCm39)	T168I	probably benign	Het
Ttn	A	T	2: 76,597,672 (GRCm39)	I11420N	probably benign	Het
Zp2	T	C	7: 119,731,641 (GRCm39)	K705E	possibly damaging	Het
Zw10	T	C	9: 48,980,054 (GRCm39)	I395T	probably damaging	Het

Other mutations in Mettl17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00497:Mettl17	APN	14	52,126,292 (GRCm39)	missense	probably damaging	1.00
IGL00915:Mettl17	APN	14	52,124,746 (GRCm39)	missense	probably benign	0.00
IGL02573:Mettl17	APN	14	52,125,504 (GRCm39)	critical splice donor site	probably null
R1075:Mettl17	UTSW	14	52,127,063 (GRCm39)	missense	probably benign	0.18
R1116:Mettl17	UTSW	14	52,127,055 (GRCm39)	missense	probably benign	0.07
R1481:Mettl17	UTSW	14	52,128,160 (GRCm39)	missense	probably benign
R1690:Mettl17	UTSW	14	52,128,918 (GRCm39)	missense	probably damaging	1.00
R1786:Mettl17	UTSW	14	52,126,192 (GRCm39)	splice site	probably benign
R1956:Mettl17	UTSW	14	52,126,254 (GRCm39)	missense	probably damaging	1.00
R4419:Mettl17	UTSW	14	52,124,729 (GRCm39)	missense	possibly damaging	0.66
R4602:Mettl17	UTSW	14	52,126,246 (GRCm39)	missense	probably damaging	1.00
R4831:Mettl17	UTSW	14	52,122,440 (GRCm39)	missense	probably benign	0.38
R6017:Mettl17	UTSW	14	52,129,074 (GRCm39)	unclassified	probably benign
R6171:Mettl17	UTSW	14	52,126,236 (GRCm39)	missense	probably damaging	1.00
R8035:Mettl17	UTSW	14	52,128,947 (GRCm39)	missense	probably damaging	1.00
R8543:Mettl17	UTSW	14	52,126,257 (GRCm39)	missense	probably benign	0.36
R8726:Mettl17	UTSW	14	52,128,187 (GRCm39)	critical splice donor site	probably null
R8739:Mettl17	UTSW	14	52,128,848 (GRCm39)	missense	possibly damaging	0.89
R8865:Mettl17	UTSW	14	52,122,308 (GRCm39)	unclassified	probably benign
R9408:Mettl17	UTSW	14	52,125,491 (GRCm39)	missense	probably damaging	1.00
R9497:Mettl17	UTSW	14	52,129,029 (GRCm39)	missense	unknown
R9559:Mettl17	UTSW	14	52,129,009 (GRCm39)	critical splice donor site	probably null

Posted On

2015-04-16