Mutagenetix > Incidental Mutation

Incidental Mutation 'R0400:Kmt5c'

38126

Institutional Source

Beutler Lab

Gene Symbol

Kmt5c

Ensembl Gene

ENSMUSG00000059851

Gene Name

lysine methyltransferase 5C

Synonyms

Suv420h2, Suv4-20h2

MMRRC Submission

038605-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0400 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4743114-4750513 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 4749243 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 100 (R100H)

Ref Sequence

ENSEMBL: ENSMUSP00000114445 (fasta)

Gene Model

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

AlphaFold

Q6Q783

Predicted Effect

probably benign
Transcript: ENSMUST00000098853
AA Change: R292H

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000096452
Gene: ENSMUSG00000059851
AA Change: R292H

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: ENSMUST00000108582
AA Change: R292H

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000104223
Gene: ENSMUSG00000059851
AA Change: R292H

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: ENSMUST00000108583
AA Change: R292H

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000104224
Gene: ENSMUSG00000059851
AA Change: R292H

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
AA Change: R100H

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000114445
Gene: ENSMUSG00000059851
AA Change: R100H

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

probably benign
Transcript: ENSMUST00000130215

SMART Domains

Protein: ENSMUSP00000119323
Gene: ENSMUSG00000059851

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: ENSMUST00000152431

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135541

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152500

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136177

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

Meta Mutation Damage Score

0.1237

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.8%

Validation Efficiency

97% (76/78)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	T	A	11: 30,376,360 (GRCm39)	H169L	probably benign	Het
9130230L23Rik	T	C	5: 66,147,699 (GRCm39)	D28G	unknown	Het
Abca12	T	A	1: 71,298,935 (GRCm39)		probably benign	Het
Acsl5	T	C	19: 55,282,143 (GRCm39)	V573A	probably damaging	Het
Agap1	A	G	1: 89,770,972 (GRCm39)		probably benign	Het
Arid2	A	G	15: 96,254,806 (GRCm39)		probably benign	Het
B430305J03Rik	T	A	3: 61,271,556 (GRCm39)		probably benign	Het
Brsk2	T	C	7: 141,552,290 (GRCm39)	L584P	probably damaging	Het
C2cd4c	A	G	10: 79,449,043 (GRCm39)	Y35H	probably damaging	Het
Cacul1	A	G	19: 60,551,591 (GRCm39)		probably benign	Het
Cers3	T	C	7: 66,414,078 (GRCm39)	V88A	probably benign	Het
Cnnm1	A	T	19: 43,456,803 (GRCm39)	H614L	probably damaging	Het
Col1a1	T	A	11: 94,832,195 (GRCm39)		probably benign	Het
Cyp1b1	T	A	17: 80,021,016 (GRCm39)	D242V	probably damaging	Het
Cyp4a31	T	C	4: 115,420,915 (GRCm39)	M1T	probably null	Het
Dbn1	C	T	13: 55,622,729 (GRCm39)	E585K	probably damaging	Het
Dclk2	A	T	3: 86,721,054 (GRCm39)		probably null	Het
Dnah17	A	G	11: 117,972,904 (GRCm39)	S2010P	probably damaging	Het
Dram2	T	C	3: 106,480,934 (GRCm39)	L246P	probably damaging	Het
Dus2	A	T	8: 106,775,309 (GRCm39)	T279S	probably benign	Het
Epn2	T	C	11: 61,423,522 (GRCm39)		probably null	Het
Esco2	C	A	14: 66,069,155 (GRCm39)	V52F	possibly damaging	Het
Fbp1	T	A	13: 63,012,882 (GRCm39)	T104S	probably benign	Het
Foxj2	A	T	6: 122,810,767 (GRCm39)	Q249L	possibly damaging	Het
Galnt7	T	C	8: 58,037,023 (GRCm39)	Y122C	probably damaging	Het
Gimd1	T	C	3: 132,340,588 (GRCm39)	Y35H	probably benign	Het
Gipc2	A	G	3: 151,871,305 (GRCm39)	F74L	probably damaging	Het
Glt1d1	T	A	5: 127,734,139 (GRCm39)		probably benign	Het
Hmcn2	A	G	2: 31,290,141 (GRCm39)	T2325A	probably damaging	Het
Iffo1	A	G	6: 125,130,434 (GRCm39)	K471R	probably damaging	Het
Ireb2	G	A	9: 54,803,782 (GRCm39)	R491H	probably benign	Het
Isg20	A	G	7: 78,566,473 (GRCm39)	N141D	possibly damaging	Het
Lrp1b	T	C	2: 40,640,926 (GRCm39)	D3506G	probably benign	Het
Lrrn4	A	C	2: 132,719,940 (GRCm39)	F287V	probably benign	Het
Maco1	T	C	4: 134,555,427 (GRCm39)	K349E	probably benign	Het
Mmrn1	A	C	6: 60,954,099 (GRCm39)	K793N	probably benign	Het
Muc16	A	G	9: 18,421,830 (GRCm39)	V8227A	possibly damaging	Het
Myh2	C	T	11: 67,083,424 (GRCm39)		probably benign	Het
Nalcn	T	A	14: 123,528,372 (GRCm39)		probably benign	Het
Nfia	T	C	4: 97,951,373 (GRCm39)	V400A	probably damaging	Het
Nxph4	T	A	10: 127,362,127 (GRCm39)	T255S	possibly damaging	Het
Olfm5	G	A	7: 103,803,386 (GRCm39)	T359I	probably damaging	Het
Or1e33	T	C	11: 73,738,867 (GRCm39)	Y28C	probably benign	Het
Or5t18	A	G	2: 86,636,995 (GRCm39)	M116T	probably damaging	Het
Or8b44	A	G	9: 38,410,207 (GRCm39)	M81V	possibly damaging	Het
Or8g21	G	T	9: 38,906,494 (GRCm39)	P79Q	probably damaging	Het
Pak5	T	C	2: 135,939,499 (GRCm39)	I545M	possibly damaging	Het
Pcdhb15	T	C	18: 37,608,948 (GRCm39)	F727L	probably benign	Het
Pds5b	T	A	5: 150,646,818 (GRCm39)	N202K	possibly damaging	Het
Phlpp1	T	A	1: 106,320,664 (GRCm39)	I1553N	probably benign	Het
Pink1	T	C	4: 138,045,229 (GRCm39)	T282A	probably damaging	Het
Prdm2	A	G	4: 142,838,240 (GRCm39)	F1706S	probably benign	Het
Pycr1	G	A	11: 120,532,352 (GRCm39)		probably benign	Het
Rigi	A	G	4: 40,235,257 (GRCm39)	Y78H	probably benign	Het
Skint9	A	G	4: 112,271,198 (GRCm39)	S71P	probably damaging	Het
Smad1	A	G	8: 80,098,399 (GRCm39)		probably benign	Het
Snapc5	A	T	9: 64,087,789 (GRCm39)	E33D	probably damaging	Het
Snrnp40	T	C	4: 130,256,443 (GRCm39)	L56P	probably damaging	Het
Stab2	A	C	10: 86,708,474 (GRCm39)	I1697S	probably damaging	Het
Tfap2a	G	T	13: 40,870,888 (GRCm39)		probably benign	Het
Tph2	A	G	10: 114,916,025 (GRCm39)		probably benign	Het
Triml1	A	G	8: 43,594,077 (GRCm39)	V118A	probably benign	Het
Ttbk2	T	A	2: 120,580,723 (GRCm39)	T538S	probably benign	Het
Ttn	A	G	2: 76,545,616 (GRCm39)	V32569A	possibly damaging	Het
U2af1	T	A	17: 31,867,166 (GRCm39)	Y158F	probably benign	Het
Usp7	A	T	16: 8,534,496 (GRCm39)		probably benign	Het
Vdr	A	G	15: 97,767,232 (GRCm39)	S179P	probably benign	Het
Vps13d	A	C	4: 144,792,397 (GRCm39)	S663A	probably benign	Het
Wdr62	T	A	7: 29,940,887 (GRCm39)	T844S	possibly damaging	Het
Wipi1	C	T	11: 109,467,956 (GRCm39)	R407Q	probably damaging	Het
Zbtb43	A	G	2: 33,343,909 (GRCm39)	C439R	probably damaging	Het
Zfp507	T	A	7: 35,491,171 (GRCm39)	H704L	probably damaging	Het
Zzef1	G	A	11: 72,786,068 (GRCm39)	R2080K	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
R1402:Kmt5c	UTSW	7	4,745,252 (GRCm39)	missense	possibly damaging	0.62
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

PCR Primer
(F):5'- GCAGTGCATCCTCAGGATTCACTC -3'
(R):5'- GCCTGCTTAGGGATGAAATCAGGAG -3'

Sequencing Primer
(F):5'- CCTCAGGATTCACTCTAAAGTGTG -3'
(R):5'- TAGGCGGGTAAGTTCCACAC -3'

Posted On

2013-05-23