Mutagenetix > Incidental Mutation

Incidental Mutation 'R1599:Kmt5c'

176025

Institutional Source

Beutler Lab

Gene Symbol

Kmt5c

Ensembl Gene

ENSMUSG00000059851

Gene Name

lysine methyltransferase 5C

Synonyms

Suv420h2, Suv4-20h2

MMRRC Submission

039636-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1599 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4743114-4750513 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4744899 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 10 (E10G)

Ref Sequence

ENSEMBL: ENSMUSP00000119323 (fasta)

Gene Model

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

AlphaFold

Q6Q783

Predicted Effect

probably damaging
Transcript: ENSMUST00000098853
AA Change: E10G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000096452
Gene: ENSMUSG00000059851
AA Change: E10G

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 damaging
Transcript: ENSMUST00000108582
AA Change: E10G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104223
Gene: ENSMUSG00000059851
AA Change: E10G

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 damaging
Transcript: ENSMUST00000108583
AA Change: E10G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104224
Gene: ENSMUSG00000059851
AA Change: E10G

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

probably damaging
Transcript: ENSMUST00000130215
AA Change: E10G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000119323
Gene: ENSMUSG00000059851
AA Change: E10G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000160480
AA Change: E10G

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000124663
Gene: ENSMUSG00000059851
AA Change: E10G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157950

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135541

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136177

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152500

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152431

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.2%
20x: 88.9%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	G	12: 71,197,033 (GRCm39)	E202G	probably damaging	Het
Adam23	A	G	1: 63,610,092 (GRCm39)	D698G	possibly damaging	Het
Adam3	T	C	8: 25,215,377 (GRCm39)	D20G	possibly damaging	Het
Adamts12	T	C	15: 11,071,797 (GRCm39)	S114P	probably damaging	Het
Adgrg6	T	A	10: 14,343,057 (GRCm39)	R297*	probably null	Het
Ahdc1	A	T	4: 132,792,247 (GRCm39)	S1163C	possibly damaging	Het
Axl	A	G	7: 25,463,394 (GRCm39)	Y619H	probably damaging	Het
Bcl11a	G	T	11: 24,113,887 (GRCm39)	C410F	probably damaging	Het
Brca2	C	A	5: 150,472,178 (GRCm39)	S2359*	probably null	Het
Calca	A	G	7: 114,233,707 (GRCm39)	S75P	probably damaging	Het
Ccn2	A	T	10: 24,473,297 (GRCm39)	R279W	probably benign	Het
Ccpg1	T	A	9: 72,906,407 (GRCm39)	Y54*	probably null	Het
Cfap161	A	T	7: 83,425,287 (GRCm39)	M268K	possibly damaging	Het
Cfap61	T	A	2: 145,854,083 (GRCm39)	V365E	probably benign	Het
Cgnl1	T	C	9: 71,548,709 (GRCm39)	I1000V	probably benign	Het
Chd2	A	T	7: 73,122,799 (GRCm39)	D978E	probably benign	Het
Cyth1	G	A	11: 118,068,047 (GRCm39)	T297M	probably damaging	Het
Dennd1b	T	G	1: 139,095,468 (GRCm39)	D505E	probably benign	Het
Dgkd	A	G	1: 87,809,608 (GRCm39)	T99A	possibly damaging	Het
Fam161a	A	T	11: 22,971,093 (GRCm39)	M180L	probably benign	Het
Gar1	G	T	3: 129,624,253 (GRCm39)	R80S	probably benign	Het
Gm28042	T	C	2: 119,866,944 (GRCm39)	S419P	probably benign	Het
Gm5591	A	C	7: 38,219,794 (GRCm39)	C360G	probably benign	Het
Golga2	A	G	2: 32,193,185 (GRCm39)	H427R	probably benign	Het
Gpt2	A	G	8: 86,238,863 (GRCm39)	Y232C	probably damaging	Het
Hnrnpll	T	A	17: 80,361,054 (GRCm39)	H118L	unknown	Het
Ice2	T	A	9: 69,318,724 (GRCm39)	C303S	probably null	Het
Ikzf3	C	A	11: 98,357,919 (GRCm39)	G473C	probably damaging	Het
Kansl3	A	T	1: 36,406,951 (GRCm39)	D38E	probably damaging	Het
Kcna6	A	T	6: 126,716,282 (GRCm39)	D202E	probably benign	Het
Klhl21	G	A	4: 152,096,757 (GRCm39)	G341D	probably damaging	Het
Klhl29	A	T	12: 5,143,538 (GRCm39)	V497D	probably damaging	Het
Kmt2b	G	A	7: 30,270,000 (GRCm39)	L2449F	probably damaging	Het
Lama3	C	T	18: 12,583,457 (GRCm39)	Q682*	probably null	Het
Lamb3	T	C	1: 193,002,801 (GRCm39)	V82A	probably damaging	Het
Larp4b	C	T	13: 9,172,186 (GRCm39)	T2I	probably damaging	Het
Man2a1	T	C	17: 64,986,826 (GRCm39)	Y613H	possibly damaging	Het
Mcm3	G	A	1: 20,890,422 (GRCm39)	T4I	probably benign	Het
Mki67	C	T	7: 135,301,663 (GRCm39)	A1124T	probably benign	Het
Mlh3	A	T	12: 85,315,143 (GRCm39)	L348I	probably damaging	Het
Mmrn1	G	A	6: 60,922,021 (GRCm39)	M159I	probably benign	Het
Muc5ac	A	T	7: 141,352,640 (GRCm39)	Q709L	possibly damaging	Het
Naip2	C	T	13: 100,298,489 (GRCm39)	A516T	possibly damaging	Het
Nosip	A	G	7: 44,723,430 (GRCm39)	N32S	probably benign	Het
Npat	T	C	9: 53,473,704 (GRCm39)	Y499H	possibly damaging	Het
Nt5c1b	T	A	12: 10,440,024 (GRCm39)	I522N	probably damaging	Het
Or1j18	G	T	2: 36,625,001 (GRCm39)	V223F	probably benign	Het
Or2r3	T	A	6: 42,448,176 (GRCm39)	K312M	probably damaging	Het
Or52d3	A	G	7: 104,228,855 (GRCm39)	M1V	probably null	Het
Or7g32	T	A	9: 19,389,517 (GRCm39)	T7S	probably damaging	Het
Pappa2	A	G	1: 158,684,742 (GRCm39)	F799S	probably damaging	Het
Pate5	T	C	9: 35,750,333 (GRCm39)	N113S	probably benign	Het
Pcdha1	C	T	18: 37,318,290 (GRCm39)	T941M	probably damaging	Het
Pilrb2	A	T	5: 137,866,859 (GRCm39)	F215I	possibly damaging	Het
Pkd1l3	G	T	8: 110,363,016 (GRCm39)	M1092I	probably benign	Het
Ppp1r21	G	T	17: 88,880,055 (GRCm39)	V491L	probably benign	Het
Prickle2	T	C	6: 92,387,855 (GRCm39)	T516A	probably benign	Het
Prr27	G	T	5: 87,991,084 (GRCm39)	R232L	probably benign	Het
Rab3gap2	C	T	1: 184,983,223 (GRCm39)	T454I	probably benign	Het
Rgs11	C	A	17: 26,427,223 (GRCm39)	H385N	probably damaging	Het
S1pr5	T	A	9: 21,155,230 (GRCm39)	T399S	probably benign	Het
Sacs	G	A	14: 61,441,087 (GRCm39)	M1044I	probably benign	Het
Sec31b	T	A	19: 44,511,592 (GRCm39)	Q603L	possibly damaging	Het
Setx	G	A	2: 29,030,385 (GRCm39)	E275K	probably benign	Het
Sh3tc1	G	A	5: 35,864,856 (GRCm39)	P444S	probably benign	Het
Shoc1	A	T	4: 59,072,349 (GRCm39)	N622K	possibly damaging	Het
Strn3	T	A	12: 51,699,549 (GRCm39)	N208Y	possibly damaging	Het
Tmem87a	T	C	2: 120,224,868 (GRCm39)	N131S	probably damaging	Het
Tmprss13	T	A	9: 45,249,616 (GRCm39)	W318R	probably damaging	Het
Trabd2b	T	C	4: 114,266,178 (GRCm39)	V64A	probably damaging	Het
Trafd1	A	T	5: 121,517,720 (GRCm39)	N24K	probably damaging	Het
Ttc41	T	C	10: 86,612,437 (GRCm39)	S1237P	probably benign	Het
Ttll1	A	G	15: 83,381,555 (GRCm39)	V238A	probably benign	Het
Vps50	T	C	6: 3,565,537 (GRCm39)	S492P	probably benign	Het
Zic1	T	C	9: 91,243,741 (GRCm39)	I409V	probably benign	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
R1402:Kmt5c	UTSW	7	4,745,252 (GRCm39)	missense	possibly damaging	0.62
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'- TGTGCTGACATTCGAGAAAGTGTCC -3'
(R):5'- CCGTTGCCTTAGGAAAGCTTCCAG -3'

Sequencing Primer
(F):5'- TCGAGAAAGTGTCCATGTCC -3'
(R):5'- TTCCAGGGACTTCCAGGC -3'

Posted On

2014-04-24