Mutagenetix > Incidental Mutation

Incidental Mutation 'R8035:Mettl17'

618204

Institutional Source

Beutler Lab

Gene Symbol

Mettl17

Ensembl Gene

ENSMUSG00000004561

Gene Name

methyltransferase like 17

Synonyms

D14Ertd209e, Mett11d1, 2310032K15Rik

MMRRC Submission

067472-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R8035 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

52122299-52129325 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 52128947 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 406 (H406Y)

Ref Sequence

ENSEMBL: ENSMUSP00000047720 (fasta)

Gene Model

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

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: H406Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000047720
Gene: ENSMUSG00000004561
AA Change: H406Y

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

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

probably damaging
Transcript: ENSMUST00000164902
AA Change: H406Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000130200
Gene: ENSMUSG00000004561
AA Change: H406Y

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

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: 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

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

Coding Region Coverage

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

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	G	6: 128,530,243 (GRCm39)	V938A	probably damaging	Het
Acot7	A	G	4: 152,337,611 (GRCm39)	T254A	possibly damaging	Het
Ankle2	C	T	5: 110,402,318 (GRCm39)	R943C	probably damaging	Het
Arrdc2	T	C	8: 71,292,026 (GRCm39)	K7R	probably benign	Het
Arsi	T	A	18: 61,049,442 (GRCm39)	H108Q	probably damaging	Het
Asap3	T	C	4: 135,968,514 (GRCm39)	Y689H	probably benign	Het
Bnip3	G	A	7: 138,493,666 (GRCm39)	T181I	probably damaging	Het
C87436	T	C	6: 86,424,337 (GRCm39)	S290P	probably benign	Het
Ccdc168	A	G	1: 44,100,711 (GRCm39)	V129A	possibly damaging	Het
Ccdc6	A	G	10: 69,933,331 (GRCm39)	I68V	probably benign	Het
Ccr3	T	C	9: 123,829,012 (GRCm39)	F116L	probably benign	Het
Cdh9	G	T	15: 16,831,152 (GRCm39)	V330F	probably damaging	Het
Cdkn1a	T	C	17: 29,318,350 (GRCm39)	C155R	possibly damaging	Het
Ctr9	C	T	7: 110,633,664 (GRCm39)	A165V	probably damaging	Het
Cyp2b19	G	A	7: 26,470,675 (GRCm39)	G439R	probably damaging	Het
Fam161b	A	T	12: 84,395,430 (GRCm39)	D504E	probably damaging	Het
Fdps	G	T	3: 89,002,783 (GRCm39)	P122T	probably benign	Het
Fmn2	T	C	1: 174,547,437 (GRCm39)	Y1454H	probably damaging	Het
Gipc2	T	C	3: 151,799,866 (GRCm39)	E288G	probably damaging	Het
Gm21411	A	C	4: 146,982,167 (GRCm39)		probably null	Het
Hnrnpc	C	T	14: 52,321,719 (GRCm39)	D32N	possibly damaging	Het
Hspa12b	T	A	2: 130,982,859 (GRCm39)	I239N	probably damaging	Het
Hspb8	T	C	5: 116,553,485 (GRCm39)	N138D	probably damaging	Het
Igkv4-69	T	C	6: 69,260,921 (GRCm39)	I69V	possibly damaging	Het
Itih1	A	C	14: 30,664,482 (GRCm39)	D81E	probably benign	Het
Kdm3b	T	C	18: 34,941,781 (GRCm39)	L624S	probably damaging	Het
Klk6	A	G	7: 43,478,086 (GRCm39)	M153V	probably benign	Het
Lgals9	A	T	11: 78,854,302 (GRCm39)	Y327*	probably null	Het
Lims1	T	A	10: 58,246,263 (GRCm39)		probably benign	Het
Lrp1b	T	A	2: 40,750,667 (GRCm39)	I3080F		Het
Mars2	C	T	1: 55,277,456 (GRCm39)	T353I	possibly damaging	Het
Matn4	T	C	2: 164,238,960 (GRCm39)	N307S	probably damaging	Het
Mtor	T	A	4: 148,630,856 (GRCm39)	M2271K	probably benign	Het
Mtrex	T	C	13: 113,035,336 (GRCm39)	E539G	probably benign	Het
Myt1	T	C	2: 181,437,532 (GRCm39)	L81P	probably damaging	Het
Or56a3b	T	A	7: 104,770,757 (GRCm39)	L31H	probably damaging	Het
Or5b118	T	C	19: 13,449,263 (GRCm39)	F310L	probably benign	Het
Or6k4	A	T	1: 173,964,490 (GRCm39)	Y60F	probably damaging	Het
Or8b38	C	T	9: 37,972,961 (GRCm39)	T115I	probably damaging	Het
Pbrm1	A	G	14: 30,806,109 (GRCm39)	K1030R	probably damaging	Het
Rap1gds1	A	T	3: 138,721,311 (GRCm39)	D119E	probably damaging	Het
Rgs9	A	G	11: 109,164,150 (GRCm39)	I151T	probably benign	Het
Slc26a7	A	C	4: 14,621,338 (GRCm39)	M16R	possibly damaging	Het
Slx4ip	T	G	2: 136,885,945 (GRCm39)	Y88*	probably null	Het
Sppl2c	T	A	11: 104,078,192 (GRCm39)	W331R	probably benign	Het
Srcap	T	C	7: 127,141,784 (GRCm39)	S1855P	probably benign	Het
Svs5	A	G	2: 164,079,053 (GRCm39)	F285L	probably benign	Het
Tjp1	G	T	7: 64,992,450 (GRCm39)	A76E	probably benign	Het
Trip13	G	C	13: 74,061,373 (GRCm39)	A430G	probably benign	Het
Trpm6	A	G	19: 18,770,226 (GRCm39)	E337G	probably damaging	Het
Tut7	A	T	13: 59,937,004 (GRCm39)	N1214K	probably benign	Het
Vmn1r37	T	A	6: 66,708,377 (GRCm39)	M1K	probably null	Het
Wdr72	T	G	9: 74,086,783 (GRCm39)		probably benign	Het
Zfp583	T	C	7: 6,319,771 (GRCm39)	K414E	probably damaging	Het
Zfp940	A	C	7: 29,544,948 (GRCm39)	S320A	probably benign	Het
Zfp979	A	C	4: 147,697,763 (GRCm39)	C315W	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
IGL02111:Mettl17	APN	14	52,128,843 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- TTACAGCGTGAGAAAGGATTCG -3'
(R):5'- ACAGGTAAAAGGTCTCCCCAG -3'

Sequencing Primer
(F):5'- GATTCGGGCATGTACAGGG -3'
(R):5'- TCCCCAGGAGCTGACAC -3'

Posted On

2020-01-23