Mutagenetix > Incidental Mutation

Incidental Mutation 'R8534:Kmt5a'

659148

Institutional Source

Beutler Lab

Gene Symbol

Kmt5a

Ensembl Gene

ENSMUSG00000049327

Gene Name

lysine methyltransferase 5A

Synonyms

2410195B05Rik, PR-SET7, Setd8

MMRRC Submission

068503-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8534 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

124577993-124600371 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 124598635 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 309 (D309E)

Ref Sequence

ENSEMBL: ENSMUSP00000052953 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031347] [ENSMUST00000059580] [ENSMUST00000100709] [ENSMUST00000198451] [ENSMUST00000199798]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000031347

SMART Domains

Protein: ENSMUSP00000031347
Gene: ENSMUSG00000029401

Domain	Start	End	E-Value	Type
PDB:4KP3\|D	1	97	3e-54	PDB
Pfam:RILP	123	180	3.4e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000059580
AA Change: D309E

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000052953
Gene: ENSMUSG00000049327
AA Change: D309E

Domain	Start	End	E-Value	Type
low complexity region	12	24	N/A	INTRINSIC
Blast:SET	87	197	2e-44	BLAST
SET	214	341	1.4e-26	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000100709
AA Change: D323E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000098275
Gene: ENSMUSG00000049327
AA Change: D323E

Domain	Start	End	E-Value	Type
low complexity region	4	49	N/A	INTRINSIC
Blast:SET	101	211	1e-44	BLAST
SET	228	355	1.4e-26	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000198451
AA Change: D254E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000143207
Gene: ENSMUSG00000049327
AA Change: D254E

Domain	Start	End	E-Value	Type
Blast:SET	32	142	3e-45	BLAST
SET	159	286	9e-29	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000199798

Meta Mutation Damage Score

0.0770

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (57/57)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a protein-lysine N-methyltransferase that can monomethylate Lys-20 of histone H4 to effect transcriptional repression of some genes. The encoded protein is required for cell proliferation and plays a role in chromatin condensation. [provided by RefSeq, May 2016]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit embryonic lethality. Mice homozygous for an allele lacking exon 7 die prior to implantation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	A	C	2: 19,545,153 (GRCm39)	L100R	probably damaging	Het
6820408C15Rik	A	G	2: 152,283,182 (GRCm39)	D282G	probably damaging	Het
Abcb11	G	T	2: 69,154,190 (GRCm39)	N125K	possibly damaging	Het
Acbd7	A	T	2: 3,341,750 (GRCm39)	D71V	probably damaging	Het
Adgrb1	A	T	15: 74,415,357 (GRCm39)	T646S	probably damaging	Het
Adgrv1	A	G	13: 81,534,887 (GRCm39)	Y5793H	probably benign	Het
Agmo	A	G	12: 37,302,538 (GRCm39)	D125G	probably damaging	Het
Ahrr	A	G	13: 74,368,799 (GRCm39)	S125P	probably damaging	Het
B020011L13Rik	C	A	1: 117,729,034 (GRCm39)	H180Q	probably benign	Het
Cbfa2t3	T	C	8: 123,365,653 (GRCm39)	D219G	probably damaging	Het
Ccdc187	A	G	2: 26,165,577 (GRCm39)	S860P	possibly damaging	Het
Ceacam5	A	T	7: 17,484,671 (GRCm39)	Q471L	probably benign	Het
Cyp2c54	A	C	19: 40,036,030 (GRCm39)	D293E	probably damaging	Het
Dnah1	G	T	14: 31,023,805 (GRCm39)	N962K	probably benign	Het
Dst	C	T	1: 34,229,388 (GRCm39)	T2002I	probably benign	Het
Elavl1	A	T	8: 4,339,864 (GRCm39)	N239K	probably benign	Het
Elmod3	A	G	6: 72,543,667 (GRCm39)	F375L	probably benign	Het
G6pc2	T	A	2: 69,050,469 (GRCm39)	N31K	probably benign	Het
Ggnbp2	C	T	11: 84,728,815 (GRCm39)		probably null	Het
Gm6569	G	T	15: 73,711,673 (GRCm39)		probably benign	Het
Insig1	C	T	5: 28,280,116 (GRCm39)	S236L	probably damaging	Het
Itih4	A	T	14: 30,622,979 (GRCm39)	N882I	probably benign	Het
Kndc1	C	A	7: 139,503,669 (GRCm39)	T991N	probably benign	Het
Lingo1	T	A	9: 56,528,353 (GRCm39)	T79S	probably benign	Het
Myh4	A	T	11: 67,134,335 (GRCm39)	E330V	probably benign	Het
Nlrx1	A	G	9: 44,174,070 (GRCm39)	V377A	probably benign	Het
Npy5r	C	A	8: 67,134,688 (GRCm39)	G35V	probably benign	Het
Or5b102	T	A	19: 13,041,432 (GRCm39)	I219N	probably damaging	Het
Or7g33	C	T	9: 19,448,605 (GRCm39)	G207D	possibly damaging	Het
Pabpn1l	T	C	8: 123,349,358 (GRCm39)	T20A	probably benign	Het
Pcf11	A	G	7: 92,302,432 (GRCm39)	V1226A	probably benign	Het
Per2	G	A	1: 91,351,659 (GRCm39)	T949M	probably benign	Het
Phc1	G	A	6: 122,315,539 (GRCm39)		probably benign	Het
Pias2	A	G	18: 77,185,083 (GRCm39)	I55V	possibly damaging	Het
Pik3r2	A	T	8: 71,227,312 (GRCm39)	S104T	probably benign	Het
Pip	T	C	6: 41,828,421 (GRCm39)	V85A	probably benign	Het
Pms2	T	C	5: 143,860,445 (GRCm39)	V86A	probably benign	Het
Potefam1	G	A	2: 111,058,380 (GRCm39)	P138S	possibly damaging	Het
Rab44	A	G	17: 29,363,547 (GRCm39)		probably null	Het
Rrbp1	A	G	2: 143,830,095 (GRCm39)	S691P	probably damaging	Het
Ruvbl2	A	T	7: 45,079,118 (GRCm39)		probably null	Het
Setbp1	T	C	18: 78,826,542 (GRCm39)	D1357G	possibly damaging	Het
Slc12a6	T	A	2: 112,174,312 (GRCm39)	I476N	probably damaging	Het
Slc1a1	C	T	19: 28,882,746 (GRCm39)	P337S	probably damaging	Het
Slc35b3	T	A	13: 39,128,566 (GRCm39)	T174S	probably benign	Het
Slc4a4	A	T	5: 89,283,581 (GRCm39)	I467F	probably damaging	Het
Slc50a1	G	A	3: 89,177,710 (GRCm39)		probably null	Het
Spink14	G	A	18: 44,164,079 (GRCm39)		probably null	Het
Spmap2l	T	A	5: 77,207,325 (GRCm39)	I361N	probably damaging	Het
Tmem59	T	C	4: 107,043,082 (GRCm39)		probably null	Het
Tnr	G	A	1: 159,746,585 (GRCm39)	E1235K	probably benign	Het
Trpm6	A	T	19: 18,869,459 (GRCm39)	R2015S	probably benign	Het
Tsnaxip1	A	G	8: 106,565,370 (GRCm39)	E132G	probably damaging	Het
Vps54	A	G	11: 21,227,706 (GRCm39)	N93S	probably benign	Het
Wdr17	T	G	8: 55,101,265 (GRCm39)	I994L	probably benign	Het
Zfat	G	T	15: 68,037,696 (GRCm39)	H926Q	probably damaging	Het
Zfp2	C	T	11: 50,791,627 (GRCm39)	E139K	possibly damaging	Het

Other mutations in Kmt5a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01087:Kmt5a	APN	5	124,589,443 (GRCm39)	splice site	probably benign
IGL01839:Kmt5a	APN	5	124,589,417 (GRCm39)	missense	probably benign	0.08
R0540:Kmt5a	UTSW	5	124,589,373 (GRCm39)	missense	probably damaging	1.00
R0743:Kmt5a	UTSW	5	124,585,282 (GRCm39)	missense	probably damaging	1.00
R1470:Kmt5a	UTSW	5	124,585,334 (GRCm39)	missense	probably damaging	0.97
R1470:Kmt5a	UTSW	5	124,585,334 (GRCm39)	missense	probably damaging	0.97
R1496:Kmt5a	UTSW	5	124,597,948 (GRCm39)	frame shift	probably null
R1676:Kmt5a	UTSW	5	124,597,948 (GRCm39)	frame shift	probably null
R6596:Kmt5a	UTSW	5	124,588,759 (GRCm39)	missense	probably benign	0.06
R7582:Kmt5a	UTSW	5	124,597,982 (GRCm39)	missense	probably benign	0.04
R8786:Kmt5a	UTSW	5	124,584,074 (GRCm39)	missense	probably benign	0.00
R9201:Kmt5a	UTSW	5	124,597,912 (GRCm39)	missense	probably damaging	1.00
R9377:Kmt5a	UTSW	5	124,578,064 (GRCm39)	start gained	probably benign
R9655:Kmt5a	UTSW	5	124,589,393 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAAGAGCTCTGTGCAATGGTAG -3'
(R):5'- CCTTTGAGGGCACTTTGTCC -3'

Sequencing Primer
(F):5'- AAGTAGCCTCTGGGATTAACCTGTC -3'
(R):5'- GGGCACTTTGTCCTTTGAAG -3'

Posted On

2021-01-18