Mutagenetix > Incidental Mutation

Incidental Mutation 'R9349:Mettl5'

707950

Institutional Source

Beutler Lab

Gene Symbol

Mettl5

Ensembl Gene

ENSMUSG00000051730

Gene Name

methyltransferase 5, N6-adenosine

Synonyms

2810410A08Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.659) question?

Stock #

R9349 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

69701542-69715959 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 69702113 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 185 (D185V)

Ref Sequence

ENSEMBL: ENSMUSP00000050907 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060447] [ENSMUST00000090852] [ENSMUST00000112260] [ENSMUST00000132186] [ENSMUST00000142127] [ENSMUST00000166411]

AlphaFold

Q8K1A0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000060447
AA Change: D185V

PolyPhen 2 Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000050907
Gene: ENSMUSG00000051730
AA Change: D185V

Domain	Start	End	E-Value	Type
low complexity region	2	10	N/A	INTRINSIC
Pfam:Cons_hypoth95	21	184	1.8e-12	PFAM
Pfam:UPF0020	25	170	3.8e-8	PFAM
Pfam:PrmA	35	127	8.4e-14	PFAM
Pfam:MTS	36	174	2.2e-16	PFAM
Pfam:Methyltransf_31	49	199	4e-15	PFAM
Pfam:Methyltransf_18	51	171	8.1e-11	PFAM
Pfam:Methyltransf_15	52	179	1.1e-9	PFAM
Pfam:Methyltransf_26	52	182	3.9e-8	PFAM
Pfam:Methyltransf_25	55	171	5.2e-8	PFAM
Pfam:Methyltransf_11	56	131	8e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000090852

SMART Domains

Protein: ENSMUSP00000088365
Gene: ENSMUSG00000068882

Domain	Start	End	E-Value	Type
LA	11	92	2.19e-42	SMART
RRM	112	183	1.6e-4	SMART
Pfam:RRM_3	230	333	2.2e-32	PFAM
low complexity region	375	386	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112260

SMART Domains

Protein: ENSMUSP00000107879
Gene: ENSMUSG00000068882

Domain	Start	End	E-Value	Type
LA	11	92	2.19e-42	SMART
RRM	112	183	1.6e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000132186

SMART Domains

Protein: ENSMUSP00000119773
Gene: ENSMUSG00000068882

Domain	Start	End	E-Value	Type
LA	11	92	2.19e-42	SMART
Pfam:RRM_1	113	154	2.6e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000132603

SMART Domains

Protein: ENSMUSP00000115666
Gene: ENSMUSG00000068882

Domain	Start	End	E-Value	Type
Pfam:RRM_3	46	149	2.5e-33	PFAM
low complexity region	190	201	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000142127

SMART Domains

Protein: ENSMUSP00000121474
Gene: ENSMUSG00000051730

Domain	Start	End	E-Value	Type
low complexity region	2	10	N/A	INTRINSIC
Pfam:Cons_hypoth95	21	141	8.7e-12	PFAM
Pfam:UPF0020	24	141	1.4e-11	PFAM
Pfam:Methyltransf_16	31	126	5e-7	PFAM
Pfam:PrmA	34	127	4e-15	PFAM
Pfam:MTS	35	141	1.4e-17	PFAM
Pfam:Methyltransf_31	49	142	5.2e-15	PFAM
Pfam:Methyltransf_18	51	141	1.4e-11	PFAM
Pfam:Methyltransf_15	52	140	4.5e-9	PFAM
Pfam:Methyltransf_26	52	140	1.3e-14	PFAM
Pfam:Methyltransf_25	55	142	4.7e-8	PFAM
Pfam:Methyltransf_11	56	134	3.8e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000166411

SMART Domains

Protein: ENSMUSP00000130313
Gene: ENSMUSG00000068882

Domain	Start	End	E-Value	Type
LA	11	92	2.19e-42	SMART
RRM	112	183	1.6e-4	SMART
Pfam:RRM_3	230	333	1.9e-35	PFAM
low complexity region	375	386	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A230072I06Rik	A	G	8: 12,329,665 (GRCm39)	Q40R	unknown	Het
A730015C16Rik	C	T	4: 108,705,053 (GRCm39)	V89I	unknown	Het
Adam19	G	T	11: 46,022,570 (GRCm39)	E508*	probably null	Het
Arhgef33	C	T	17: 80,644,736 (GRCm39)	Q22*	probably null	Het
Arih2	C	G	9: 108,488,938 (GRCm39)	R260P	probably damaging	Het
Astn2	T	A	4: 66,184,492 (GRCm39)	T202S	unknown	Het
Bpifb5	T	A	2: 154,067,005 (GRCm39)	L86Q	possibly damaging	Het
Brpf3	G	A	17: 29,040,276 (GRCm39)	S899N	probably benign	Het
Ccl20	T	C	1: 83,095,586 (GRCm39)	F49S		Het
Ctse	A	G	1: 131,592,111 (GRCm39)	T146A	probably benign	Het
Dhx35	T	C	2: 158,671,444 (GRCm39)	S292P	possibly damaging	Het
Fut7	C	T	2: 25,314,993 (GRCm39)	P84S	possibly damaging	Het
Gm9736	A	C	10: 77,586,393 (GRCm39)	S266A	unknown	Het
Gsdma	T	A	11: 98,566,771 (GRCm39)	L366Q	probably benign	Het
Ifna15	T	A	4: 88,476,283 (GRCm39)	D67V	probably benign	Het
Igkv2-112	G	A	6: 68,197,678 (GRCm39)	V117I	probably benign	Het
Kcnh2	C	T	5: 24,538,003 (GRCm39)	G120E	probably damaging	Het
Kcnip1	T	G	11: 33,601,548 (GRCm39)	Y29S	probably benign	Het
Lrrc37a	T	G	11: 103,388,454 (GRCm39)	M2324L	unknown	Het
Mmp1b	T	A	9: 7,369,271 (GRCm39)	M359L	probably benign	Het
Ndufa5	G	A	6: 24,522,749 (GRCm39)	T31I	probably benign	Het
Ngly1	T	A	14: 16,281,801 (GRCm38)	C352*	probably null	Het
Or14c45	A	G	7: 86,176,373 (GRCm39)	H136R	probably benign	Het
Or51a39	A	T	7: 102,362,875 (GRCm39)	C248*	probably null	Het
Pcdhac1	C	T	18: 37,224,021 (GRCm39)	A278V	possibly damaging	Het
Ppp2r3c	T	A	12: 55,345,268 (GRCm39)	K73N	probably benign	Het
Rasgrf1	T	C	9: 89,884,460 (GRCm39)	V975A	probably damaging	Het
Rps27rt	C	T	9: 114,811,673 (GRCm39)	V35M	probably benign	Het
Slc22a8	A	G	19: 8,571,469 (GRCm39)	N67D	probably benign	Het
Slc39a6	C	A	18: 24,718,493 (GRCm39)	M521I	probably benign	Het
Snx31	C	T	15: 36,555,430 (GRCm39)	S39N	probably damaging	Het
Speer1b	C	T	5: 11,823,221 (GRCm39)	T130I	possibly damaging	Het
Sv2a	T	C	3: 96,096,795 (GRCm39)		probably null	Het
Thg1l	G	A	11: 45,846,273 (GRCm39)	A7V	probably benign	Het
Ttc39c	C	T	18: 12,822,932 (GRCm39)	Q147*	probably null	Het
Ube2u	A	G	4: 100,407,194 (GRCm39)	N352D	unknown	Het
Uhrf1	T	C	17: 56,617,737 (GRCm39)	V153A	possibly damaging	Het
Wdfy4	A	G	14: 32,875,996 (GRCm39)	S143P		Het

Other mutations in Mettl5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01573:Mettl5	APN	2	69,711,659 (GRCm39)	missense	probably damaging	0.96
R1355:Mettl5	UTSW	2	69,711,764 (GRCm39)	splice site	probably null
R1370:Mettl5	UTSW	2	69,711,764 (GRCm39)	splice site	probably null
R1416:Mettl5	UTSW	2	69,701,633 (GRCm39)	missense	possibly damaging	0.79
R1463:Mettl5	UTSW	2	69,715,590 (GRCm39)	splice site	probably benign
R1842:Mettl5	UTSW	2	69,715,686 (GRCm39)	missense	unknown
R1886:Mettl5	UTSW	2	69,711,149 (GRCm39)	missense	probably damaging	1.00
R2989:Mettl5	UTSW	2	69,711,659 (GRCm39)	missense	probably damaging	0.99
R4290:Mettl5	UTSW	2	69,711,176 (GRCm39)	missense	probably benign	0.00
R5646:Mettl5	UTSW	2	69,711,663 (GRCm39)	nonsense	probably null
R6313:Mettl5	UTSW	2	69,702,071 (GRCm39)	splice site	probably null
R9623:Mettl5	UTSW	2	69,711,717 (GRCm39)	missense	possibly damaging	0.88
R9668:Mettl5	UTSW	2	69,711,723 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CGTTTCACAAAGAACTTCAACTAAAA -3'
(R):5'- TTCTCCATGACTTCAAATTTTGGTA -3'

Sequencing Primer
(F):5'- GAGTATAAGCCCTTCTTCCCACAG -3'
(R):5'- AGGATATGTCCAAAGTGAGA -3'

Posted On

2022-04-18