Mutagenetix > Incidental Mutation

Incidental Mutation 'R7106:Kmt5c'

551175

Institutional Source

Beutler Lab

Gene Symbol

Kmt5c

Ensembl Gene

ENSMUSG00000059851

Gene Name

lysine methyltransferase 5C

Synonyms

Suv420h2, Suv4-20h2

MMRRC Submission

045198-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7106 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4743114-4750513 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4745705 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 122 (K122E)

Ref Sequence

ENSEMBL: ENSMUSP00000096452 (fasta)

Gene Model

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

AlphaFold

Q6Q783

PDB Structure

The structure of the Suv4-20h2 ternary complex with histone H4 [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000098853
AA Change: K122E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000096452
Gene: ENSMUSG00000059851
AA Change: K122E

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: K122E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104223
Gene: ENSMUSG00000059851
AA Change: K122E

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: K122E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104224
Gene: ENSMUSG00000059851
AA Change: K122E

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

probably damaging
Transcript: ENSMUST00000130215
AA Change: K122E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000119323
Gene: ENSMUSG00000059851
AA Change: K122E

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

Predicted Effect

silent
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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (62/62)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldob	T	C	4: 49,541,258 (GRCm39)	Y138C	probably damaging	Het
Ano7	A	C	1: 93,302,705 (GRCm39)		probably null	Het
Arvcf	T	A	16: 18,217,799 (GRCm39)	V497E	probably damaging	Het
Atad2	A	G	15: 57,980,162 (GRCm39)		probably null	Het
Brinp1	C	T	4: 68,747,615 (GRCm39)	A163T	probably benign	Het
Catsperd	C	A	17: 56,965,070 (GRCm39)		probably null	Het
Ccm2l	A	G	2: 152,912,571 (GRCm39)	H70R	possibly damaging	Het
Cgnl1	G	A	9: 71,633,015 (GRCm39)	T112I	probably benign	Het
Chid1	T	C	7: 141,102,573 (GRCm39)	H220R	probably benign	Het
Clca3a1	A	G	3: 144,733,190 (GRCm39)	V106A	probably damaging	Het
Cldn23	A	C	8: 36,293,069 (GRCm39)	S140A	probably benign	Het
Dennd2c	T	C	3: 103,038,893 (GRCm39)	S14P	possibly damaging	Het
Det1	T	C	7: 78,493,212 (GRCm39)	D264G	probably damaging	Het
Dmwd	T	C	7: 18,814,454 (GRCm39)	V368A	probably damaging	Het
Dnah11	T	C	12: 117,924,884 (GRCm39)	K3362E	probably benign	Het
Dnah8	T	C	17: 30,960,152 (GRCm39)	F2208L	probably damaging	Het
Dnaja3	T	C	16: 4,523,798 (GRCm39)	I477T	probably benign	Het
Dnmt3a	A	G	12: 3,947,591 (GRCm39)	K482E	probably damaging	Het
Dock7	A	G	4: 98,855,563 (GRCm39)	I1493T	unknown	Het
Ehbp1l1	A	G	19: 5,768,765 (GRCm39)	V846A	probably benign	Het
Fbxl4	T	A	4: 22,427,140 (GRCm39)		probably null	Het
Fgd2	T	A	17: 29,595,944 (GRCm39)	L534*	probably null	Het
Fgfr3	T	C	5: 33,888,758 (GRCm39)	V349A	probably damaging	Het
Gal3st1	A	T	11: 3,948,509 (GRCm39)	I239F	probably damaging	Het
Gpatch3	C	A	4: 133,305,514 (GRCm39)	H250N	probably benign	Het
Guca1b	A	T	17: 47,702,236 (GRCm39)	K230*	probably null	Het
Itga3	G	T	11: 94,946,699 (GRCm39)	L737I	probably benign	Het
Kpna4	G	A	3: 68,986,797 (GRCm39)	Q531*	probably null	Het
Lctl	A	G	9: 64,040,119 (GRCm39)	E410G	probably benign	Het
Lhx1	T	C	11: 84,412,903 (GRCm39)	N128D	probably benign	Het
Lifr	A	G	15: 7,202,405 (GRCm39)	N349D	probably benign	Het
Map2	G	A	1: 66,449,903 (GRCm39)	A209T	possibly damaging	Het
Mif4gd	G	A	11: 115,502,737 (GRCm39)	A25V	probably damaging	Het
Mug2	T	C	6: 122,059,680 (GRCm39)	S1353P	probably damaging	Het
Myh9	A	G	15: 77,659,321 (GRCm39)	C931R	probably benign	Het
Nelfe	T	G	17: 35,071,395 (GRCm39)		probably null	Het
Nrf1	A	G	6: 30,102,183 (GRCm39)	S161G	probably benign	Het
Pik3c2a	G	A	7: 116,017,368 (GRCm39)	Q130*	probably null	Het
Prex2	T	A	1: 11,207,017 (GRCm39)	M525K	probably benign	Het
Psme2	A	G	14: 55,825,694 (GRCm39)	S165P	probably benign	Het
Rapgef2	A	G	3: 78,973,915 (GRCm39)	F1477S	probably benign	Het
Rasef	A	T	4: 73,645,864 (GRCm39)	C502S	probably damaging	Het
Rpap2	T	A	5: 107,780,988 (GRCm39)	L565*	probably null	Het
Sav1	A	G	12: 70,031,390 (GRCm39)	I44T	probably damaging	Het
Selp	T	A	1: 163,953,991 (GRCm39)	I97N	probably benign	Het
Serpina1d	A	G	12: 103,731,980 (GRCm39)	F293S	probably benign	Het
Sin3b	T	C	8: 73,450,765 (GRCm39)	F65L	possibly damaging	Het
Sorcs3	G	C	19: 48,694,402 (GRCm39)	G559R	probably damaging	Het
Susd2	A	T	10: 75,473,887 (GRCm39)	D689E	probably damaging	Het
Tas1r2	A	T	4: 139,389,360 (GRCm39)	M448L	probably benign	Het
Tbc1d30	A	T	10: 121,137,897 (GRCm39)	I181N	possibly damaging	Het
Tcea3	A	G	4: 135,998,679 (GRCm39)	T318A	probably damaging	Het
Tomm70a	T	C	16: 56,961,121 (GRCm39)	V358A	probably damaging	Het
Tpp1	A	C	7: 105,399,118 (GRCm39)	S153A	possibly damaging	Het
Trip13	C	T	13: 74,062,651 (GRCm39)	V387I	probably benign	Het
Ttn	T	C	2: 76,627,832 (GRCm39)	I14704V	probably benign	Het
Uimc1	C	A	13: 55,198,628 (GRCm39)	C516F	possibly damaging	Het
Vit	A	G	17: 78,894,228 (GRCm39)	N210S	probably benign	Het
Vmn1r22	G	T	6: 57,877,296 (GRCm39)	T227K	probably damaging	Het
Vmn2r5	A	G	3: 64,399,104 (GRCm39)	I625T	probably benign	Het
Zfp27	AATCCGCTTGTGCA	AA	7: 29,594,446 (GRCm39)		probably benign	Het
Zfp384	T	C	6: 125,001,222 (GRCm39)	L98P	probably benign	Het
Zfp809	G	T	9: 22,147,520 (GRCm39)	K51N	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
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
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'- TCTCTCCATCTAGCTGGCAG -3'
(R):5'- TATAGGGCTCTGAGCGATGC -3'

Sequencing Primer
(F):5'- AGCTGGCAGATTCTAGATCTCTCAG -3'
(R):5'- AGCGATGCCTCCCAGTCTTTG -3'

Posted On

2019-05-15