Mutagenetix > Incidental Mutations

Incidental Mutation 'R5163:Mettl14'

397088

Institutional Source

Beutler Lab

Gene Symbol

Mettl14

Ensembl Gene

ENSMUSG00000028114

Gene Name

methyltransferase like 14

Synonyms

G430022H21Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5163 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

123368297-123386108 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 123374825 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 189 (I189V)

Ref Sequence

ENSEMBL: ENSMUSP00000087848 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029759] [ENSMUST00000090371] [ENSMUST00000174006] [ENSMUST00000174323]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029759
AA Change: I189V

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000029759
Gene: ENSMUSG00000028114
AA Change: I189V

Domain	Start	End	E-Value	Type
low complexity region	4	23	N/A	INTRINSIC
coiled coil region	65	90	N/A	INTRINSIC
Pfam:MT-A70	186	363	2.7e-66	PFAM
low complexity region	397	406	N/A	INTRINSIC
low complexity region	408	452	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000090371
AA Change: I189V

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000087848
Gene: ENSMUSG00000028114
AA Change: I189V

Domain	Start	End	E-Value	Type
low complexity region	4	23	N/A	INTRINSIC
coiled coil region	65	90	N/A	INTRINSIC
Pfam:MT-A70	186	289	3e-33	PFAM
low complexity region	310	319	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172687
AA Change: *223W

Predicted Effect

probably benign
Transcript: ENSMUST00000174006
AA Change: I3V

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000133741
Gene: ENSMUSG00000028114
AA Change: I3V

Domain	Start	End	E-Value	Type
low complexity region	4	13	N/A	INTRINSIC
Pfam:MT-A70	28	146	6e-45	PFAM
low complexity region	180	189	N/A	INTRINSIC
low complexity region	191	202	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000174323
AA Change: I189V

PolyPhen 2 Score 0.695 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000134198
Gene: ENSMUSG00000028114
AA Change: I189V

Domain	Start	End	E-Value	Type
low complexity region	4	23	N/A	INTRINSIC
coiled coil region	65	90	N/A	INTRINSIC
Pfam:MT-A70	186	360	7.3e-63	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,164,546	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,164,547	E685V	possibly damaging	Het
Bcor	C	T	X: 12,040,486	R1551Q	probably damaging	Het
Btbd19	T	G	4: 117,121,431	I152L	probably damaging	Het
Ercc6l2	A	G	13: 63,899,031		probably benign	Het
Fat4	A	G	3: 38,980,797	D2866G	probably damaging	Het
Fkbp10	C	T	11: 100,423,099	A311V	probably benign	Het
Fnbp1l	T	C	3: 122,544,663	N511S	probably benign	Het
Gkn3	C	T	6: 87,383,525	A163T	probably damaging	Het
Gltp	A	G	5: 114,674,061	I147T	probably benign	Het
Gpr37	A	T	6: 25,669,615	I410N	possibly damaging	Het
Hivep2	G	A	10: 14,139,425	G1779R	probably damaging	Het
Ifna14	T	C	4: 88,571,362	Y146C	probably damaging	Het
Loxhd1	A	G	18: 77,361,736	D662G	possibly damaging	Het
Lrrc6	T	C	15: 66,442,218	D311G	probably benign	Het
Lrrc9	A	T	12: 72,449,389	I13F	probably damaging	Het
Map2k3	T	A	11: 60,943,491	I95N	probably damaging	Het
Mark1	A	G	1: 184,905,610	I594T	probably damaging	Het
Msh2	C	A	17: 87,723,413	A906E	probably benign	Het
Odf4	C	A	11: 68,922,846	C133F	probably damaging	Het
Olfr976	T	C	9: 39,956,920	N5S	probably damaging	Het
Opa1	A	T	16: 29,597,620	Q106L	probably damaging	Het
Pax4	T	G	6: 28,446,270	S75R	probably damaging	Het
Ppfibp1	T	A	6: 147,022,131		probably null	Het
Ptpn20	T	C	14: 33,631,111	I269T	probably benign	Het
Ptprq	T	C	10: 107,524,331	Q2161R	probably damaging	Het
Rab22a	A	G	2: 173,661,487	D31G	probably damaging	Het
Rap1gds1	A	T	3: 138,959,056	M296K	probably damaging	Het
Rfx1	A	G	8: 84,093,211	T692A	probably damaging	Het
Sf3b2	A	G	19: 5,275,137	V769A	probably damaging	Het
Skint5	A	T	4: 113,795,565	F621I	unknown	Het
Spink5	A	C	18: 43,999,857	R513S	possibly damaging	Het
Srrm2	C	T	17: 23,819,550		probably benign	Het
Srrt	A	G	5: 137,296,773		probably null	Het
Sun3	T	C	11: 9,023,295	Q134R	possibly damaging	Het
Tpo	A	G	12: 30,105,980	V174A	probably benign	Het
Ucp1	A	G	8: 83,294,203	R183G	possibly damaging	Het
Vmn2r66	A	G	7: 85,006,809	V333A	probably benign	Het
Wdr60	C	T	12: 116,255,866	R152H	possibly damaging	Het
Zfp108	G	T	7: 24,260,738	K251N	probably benign	Het
Zfp936	A	G	7: 43,190,240	Q377R	probably damaging	Het
Zkscan2	T	C	7: 123,499,867	E34G	probably benign	Het
Zufsp	T	A	10: 33,949,443	E14D	probably damaging	Het

Other mutations in Mettl14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00718:Mettl14	APN	3	123371339	missense	probably damaging	1.00
IGL00846:Mettl14	APN	3	123371363	missense	probably damaging	1.00
IGL01614:Mettl14	APN	3	123373960	splice site	probably benign
IGL02219:Mettl14	APN	3	123374891	splice site	probably benign
IGL02960:Mettl14	APN	3	123374885	missense	probably damaging	1.00
R0147:Mettl14	UTSW	3	123371394	missense	probably damaging	1.00
R0148:Mettl14	UTSW	3	123371394	missense	probably damaging	1.00
R0266:Mettl14	UTSW	3	123382826	missense	probably benign	0.05
R0468:Mettl14	UTSW	3	123371412	missense	probably damaging	1.00
R0543:Mettl14	UTSW	3	123374762	missense	possibly damaging	0.65
R1181:Mettl14	UTSW	3	123374002	missense	probably damaging	1.00
R1463:Mettl14	UTSW	3	123374073	splice site	probably benign
R4256:Mettl14	UTSW	3	123383605	missense	probably damaging	1.00
R4679:Mettl14	UTSW	3	123369414	utr 3 prime	probably benign
R4845:Mettl14	UTSW	3	123371355	missense	probably damaging	1.00
R6476:Mettl14	UTSW	3	123374037	missense	probably damaging	1.00
R7499:Mettl14	UTSW	3	123374854	missense	probably benign	0.30
R7682:Mettl14	UTSW	3	123383604	missense	possibly damaging	0.86
R7808:Mettl14	UTSW	3	123372585	missense	possibly damaging	0.46
R8044:Mettl14	UTSW	3	123369660	missense	probably benign	0.14

Predicted Primers

PCR Primer
(F):5'- AAGTGTACTCATAACCCCGC -3'
(R):5'- TCTCCATGTCCTAAGGAAGACATTAG -3'

Sequencing Primer
(F):5'- CCGCTTTCTGGACAAATAAGCGTG -3'
(R):5'- AGTCTGCAGTAAACAAAAGATGTAC -3'

Posted On

2016-06-21