Mutagenetix > Incidental Mutation

Incidental Mutation 'R1116:Mettl17'

97337

Institutional Source

Beutler Lab

Gene Symbol

Mettl17

Ensembl Gene

ENSMUSG00000004561

Gene Name

methyltransferase like 17

Synonyms

2310032K15Rik, Mett11d1, D14Ertd209e

MMRRC Submission

039189-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R1116 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

51884842-51893039 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 51889598 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 281 (V281A)

Ref Sequence

ENSEMBL: ENSMUSP00000130200 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047726] [ENSMUST00000047899] [ENSMUST00000164252] [ENSMUST00000164902] [ENSMUST00000165100] [ENSMUST00000165568] [ENSMUST00000167984] [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 benign
Transcript: ENSMUST00000047899
AA Change: V281A

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000047720
Gene: ENSMUSG00000004561
AA Change: V281A

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 benign
Transcript: ENSMUST00000164902
AA Change: V281A

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000130200
Gene: ENSMUSG00000004561
AA Change: V281A

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

noncoding transcript
Transcript: ENSMUST00000165150

Predicted Effect

probably benign
Transcript: ENSMUST00000165568
AA Change: V228A

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000129973
Gene: ENSMUSG00000004561
AA Change: V228A

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

noncoding transcript
Transcript: ENSMUST00000169019

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170887

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168413

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166408

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168409

Predicted Effect

probably benign
Transcript: ENSMUST00000167984

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

Meta Mutation Damage Score

0.4789

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 92.8%

Validation Efficiency

100% (49/49)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230019H11Rik	A	T	10: 3,120,180		noncoding transcript	Het
Abi3bp	T	C	16: 56,686,429		probably benign	Het
Acacb	C	T	5: 114,210,956	P1028S	probably damaging	Het
Acad10	A	G	5: 121,630,751	F717S	probably damaging	Het
Adgrg6	A	T	10: 14,438,428	Y705N	probably benign	Het
Adm	A	G	7: 110,628,294	I6V	probably benign	Het
Agps	T	G	2: 75,861,925		probably benign	Het
Atr	C	T	9: 95,867,636	Q501*	probably null	Het
Cacna2d3	A	G	14: 29,064,321		probably benign	Het
Ccnt1	G	A	15: 98,544,338	R350W	probably damaging	Het
Cfap74	G	A	4: 155,433,996	E564K	probably benign	Het
Clip1	T	C	5: 123,579,491	E1250G	probably damaging	Het
Cryz	A	C	3: 154,621,603		probably benign	Het
Dnah1	C	A	14: 31,307,867	V494F	probably benign	Het
Dpep3	G	T	8: 105,978,829	D96E	probably damaging	Het
Dyrk3	G	A	1: 131,129,182	A418V	probably damaging	Het
Ehf	T	A	2: 103,267,009	N231I	probably damaging	Het
Eif4g3	T	C	4: 138,091,775		probably null	Het
Ergic3	G	A	2: 156,016,787	V278M	probably benign	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Fam178b	A	T	1: 36,578,588	C82*	probably null	Het
Gm1647	C	T	3: 69,156,872	Q31*	probably null	Het
Got1	T	A	19: 43,502,974	K346*	probably null	Het
Grid2ip	G	A	5: 143,382,914	G656D	possibly damaging	Het
Grm2	A	G	9: 106,647,927	Y530H	probably damaging	Het
Hyou1	T	C	9: 44,384,681	I381T	probably damaging	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
March11	T	C	15: 26,409,295	L360P	probably damaging	Het
Micu2	A	T	14: 57,954,200	D131E	probably benign	Het
Mug1	G	C	6: 121,870,645	V661L	probably benign	Het
Myo18b	A	T	5: 112,803,279	D1488E	probably damaging	Het
Nkg7	G	A	7: 43,437,454	V51I	probably benign	Het
Nlgn1	A	C	3: 25,433,874	S766A	probably benign	Het
Olfr462	T	A	11: 87,889,408	M163L	probably benign	Het
Otog	T	C	7: 46,300,601		probably benign	Het
Pax2	T	C	19: 44,757,424	S11P	probably damaging	Het
Pck2	A	G	14: 55,545,366	D392G	probably benign	Het
Plxnd1	A	T	6: 115,967,005		probably null	Het
Prkdc	A	G	16: 15,783,079	D2868G	probably benign	Het
Prl3d2	T	C	13: 27,126,002	L149P	probably damaging	Het
Purg	A	T	8: 33,386,745	H137L	probably benign	Het
Slc38a8	A	T	8: 119,496,133	L150Q	probably damaging	Het
Tifab	T	A	13: 56,176,212	R139S	possibly damaging	Het
Txndc16	T	C	14: 45,162,985	H353R	probably benign	Het
Upk2	A	G	9: 44,453,789		probably null	Het
Zdhhc25	G	A	15: 88,600,620	V53I	probably benign	Het
Zfp738	T	A	13: 67,670,243		probably null	Het
Zfp810	C	T	9: 22,279,085	E176K	probably benign	Het
Zfp846	T	A	9: 20,593,263	W140R	possibly damaging	Het

Other mutations in Mettl17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00497:Mettl17	APN	14	51888835	missense	probably damaging	1.00
IGL00915:Mettl17	APN	14	51887289	missense	probably benign	0.00
IGL02111:Mettl17	APN	14	51891386	missense	probably damaging	1.00
IGL02573:Mettl17	APN	14	51888047	critical splice donor site	probably null
R1075:Mettl17	UTSW	14	51889606	missense	probably benign	0.18
R1481:Mettl17	UTSW	14	51890703	missense	probably benign
R1690:Mettl17	UTSW	14	51891461	missense	probably damaging	1.00
R1786:Mettl17	UTSW	14	51888735	splice site	probably benign
R1956:Mettl17	UTSW	14	51888797	missense	probably damaging	1.00
R4419:Mettl17	UTSW	14	51887272	missense	possibly damaging	0.66
R4602:Mettl17	UTSW	14	51888789	missense	probably damaging	1.00
R4831:Mettl17	UTSW	14	51884983	missense	probably benign	0.38
R6017:Mettl17	UTSW	14	51891617	unclassified	probably benign
R6171:Mettl17	UTSW	14	51888779	missense	probably damaging	1.00
R8035:Mettl17	UTSW	14	51891490	missense	probably damaging	1.00
R8543:Mettl17	UTSW	14	51888800	missense	probably benign	0.36
R8726:Mettl17	UTSW	14	51890730	critical splice donor site	probably null
R8739:Mettl17	UTSW	14	51891391	missense	possibly damaging	0.89
R8865:Mettl17	UTSW	14	51884851	unclassified	probably benign
R9408:Mettl17	UTSW	14	51888034	missense	probably damaging	1.00
R9497:Mettl17	UTSW	14	51891572	missense	unknown
R9559:Mettl17	UTSW	14	51891552	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- CAATGTGGCACACAAGACAGCAATG -3'
(R):5'- TGGATACCCTAAGGAAGCACCCAG -3'

Sequencing Primer
(F):5'- acacctgtaatctcagcactc -3'
(R):5'- GGAAGCACCCAGACATCTATAAAGG -3'

Posted On

2014-01-05