Mutagenetix > Incidental Mutation

Incidental Mutation 'R1402:Kmt5c'

500218

Institutional Source

Beutler Lab

Gene Symbol

Kmt5c

Ensembl Gene

ENSMUSG00000059851

Gene Name

lysine methyltransferase 5C

Synonyms

Suv420h2, Suv4-20h2

MMRRC Submission

039464-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1402 (G1)

Quality Score

169

Status

Not validated

Chromosome

Chromosomal Location

4743114-4750513 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 4745252 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 81 (R81L)

Ref Sequence

ENSEMBL: ENSMUSP00000119323 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098853] [ENSMUST00000108582] [ENSMUST00000108583] [ENSMUST00000128018] [ENSMUST00000130215] [ENSMUST00000160480]

AlphaFold

Q6Q783

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098853
AA Change: R81L

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000096452
Gene: ENSMUSG00000059851
AA Change: R81L

Domain	Start	End	E-Value	Type
Blast:SET	6	50	1e-10	BLAST
SET	110	224	1.17e-14	SMART
low complexity region	268	281	N/A	INTRINSIC
low complexity region	327	343	N/A	INTRINSIC
low complexity region	411	427	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108582
AA Change: R81L

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000104223
Gene: ENSMUSG00000059851
AA Change: R81L

Domain	Start	End	E-Value	Type
Blast:SET	6	50	1e-10	BLAST
SET	110	224	1.17e-14	SMART
low complexity region	268	281	N/A	INTRINSIC
low complexity region	327	343	N/A	INTRINSIC
low complexity region	411	427	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108583
AA Change: R81L

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000104224
Gene: ENSMUSG00000059851
AA Change: R81L

Domain	Start	End	E-Value	Type
Blast:SET	6	50	1e-10	BLAST
SET	110	224	1.17e-14	SMART
low complexity region	268	281	N/A	INTRINSIC
low complexity region	327	343	N/A	INTRINSIC
low complexity region	411	427	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000128018

SMART Domains

Protein: ENSMUSP00000114445
Gene: ENSMUSG00000059851

Domain	Start	End	E-Value	Type
Blast:SET	1	32	4e-15	BLAST
PDB:4AU7\|B	1	54	5e-33	PDB
low complexity region	76	89	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129927

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130200

Predicted Effect

possibly damaging
Transcript: ENSMUST00000130215
AA Change: R81L

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000119323
Gene: ENSMUSG00000059851
AA Change: R81L

Domain	Start	End	E-Value	Type
PDB:4AU7\|B	1	164	1e-110	PDB
Blast:SET	32	133	5e-35	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135541

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136177

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152500

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157950

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152431

Predicted Effect

probably benign
Transcript: ENSMUST00000160480

SMART Domains

Protein: ENSMUSP00000124663
Gene: ENSMUSG00000059851

Domain	Start	End	E-Value	Type
PDB:4AU7\|B	1	36	2e-18	PDB
Blast:SET	6	36	3e-10	BLAST

Coding Region Coverage

1x: 98.9%
3x: 96.3%
10x: 80.0%
20x: 46.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SUV420H2 and the related enzyme SUV420H1 (MIM 610881) function as histone methyltransferases that specifically trimethylate nucleosomal histone H4 (see MIM 602822) on lysine-20 (K20) (Schotta et al., 2004 [PubMed 15145825]).[supplied by OMIM, Dec 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit no apparent defects and develop normally. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aqp8	T	A	7: 123,065,862 (GRCm39)	V219E	probably damaging	Het
Bves	C	T	10: 45,223,961 (GRCm39)	T207M	probably damaging	Het
Dlg5	T	C	14: 24,226,676 (GRCm39)	S409G	probably benign	Het
Ehmt2	C	T	17: 35,125,757 (GRCm39)	T607I	probably benign	Het
Gm21738	T	A	14: 19,415,957 (GRCm38)	Y194F	probably benign	Het
Gm21738	T	C	14: 19,415,963 (GRCm38)	K192R	probably benign	Het
H2-T22	A	T	17: 36,351,161 (GRCm39)	I307N	possibly damaging	Het
Itih3	T	C	14: 30,630,665 (GRCm39)	D882G	probably damaging	Het
Nckap1	C	T	2: 80,348,286 (GRCm39)	S889N	probably benign	Het
Nr1i2	A	G	16: 38,073,245 (GRCm39)	S244P	probably damaging	Het
Pcx	A	G	19: 4,652,058 (GRCm39)	D101G	possibly damaging	Het
Prkch	T	C	12: 73,632,163 (GRCm39)	V76A	probably damaging	Het
Skic3	A	G	13: 76,279,533 (GRCm39)	Y655C	probably damaging	Het
Thsd1	A	G	8: 22,749,384 (GRCm39)	K691E	possibly damaging	Het
Tmprss11e	G	A	5: 86,863,477 (GRCm39)	T196I	probably damaging	Het
Trappc13	A	G	13: 104,286,624 (GRCm39)	V211A	probably damaging	Het
Vav1	C	A	17: 57,610,849 (GRCm39)	L472I	probably benign	Het
Wdr25	G	A	12: 108,992,465 (GRCm39)	E459K	probably damaging	Het
Zdbf2	A	T	1: 63,342,786 (GRCm39)	E388D	possibly damaging	Het
Zfp663	T	C	2: 165,195,890 (GRCm39)	K110E	probably benign	Het
Zfp78	C	A	7: 6,381,618 (GRCm39)	H223N	probably damaging	Het

Other mutations in Kmt5c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01340:Kmt5c	APN	7	4,745,140 (GRCm39)	nonsense	probably null
R0010:Kmt5c	UTSW	7	4,749,207 (GRCm39)	missense	probably benign	0.09
R0349:Kmt5c	UTSW	7	4,749,594 (GRCm39)	missense	probably damaging	0.98
R0400:Kmt5c	UTSW	7	4,749,243 (GRCm39)	missense	probably benign	0.02
R1402:Kmt5c	UTSW	7	4,745,252 (GRCm39)	missense	possibly damaging	0.62
R1599:Kmt5c	UTSW	7	4,744,899 (GRCm39)	missense	probably damaging	1.00
R1657:Kmt5c	UTSW	7	4,749,453 (GRCm39)	nonsense	probably null
R1799:Kmt5c	UTSW	7	4,745,729 (GRCm39)	critical splice donor site	probably null
R1892:Kmt5c	UTSW	7	4,745,714 (GRCm39)	nonsense	probably null
R3855:Kmt5c	UTSW	7	4,749,255 (GRCm39)	missense	probably damaging	1.00
R5982:Kmt5c	UTSW	7	4,749,790 (GRCm39)	missense	probably damaging	1.00
R6306:Kmt5c	UTSW	7	4,749,480 (GRCm39)	missense	probably benign	0.35
R6357:Kmt5c	UTSW	7	4,745,204 (GRCm39)	missense	possibly damaging	0.94
R6563:Kmt5c	UTSW	7	4,745,628 (GRCm39)	missense	probably damaging	1.00
R7106:Kmt5c	UTSW	7	4,745,705 (GRCm39)	missense	probably damaging	1.00
R7904:Kmt5c	UTSW	7	4,749,158 (GRCm39)	missense	probably damaging	0.99
R8706:Kmt5c	UTSW	7	4,749,153 (GRCm39)	missense	probably damaging	1.00
R8777:Kmt5c	UTSW	7	4,745,712 (GRCm39)	missense	possibly damaging	0.93
R8777-TAIL:Kmt5c	UTSW	7	4,745,712 (GRCm39)	missense	possibly damaging	0.93
R9050:Kmt5c	UTSW	7	4,745,281 (GRCm39)	missense	probably benign	0.09
Z1177:Kmt5c	UTSW	7	4,749,699 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2017-12-01