Mutagenetix > Incidental Mutation

Incidental Mutation 'R7468:Kmt5b'

578997

Institutional Source

Beutler Lab

Gene Symbol

Kmt5b

Ensembl Gene

ENSMUSG00000045098

Gene Name

lysine methyltransferase 5B

Synonyms

Suv420h1, C630029K18Rik, Suv4-20h1

MMRRC Submission

045542-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7468 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3817421-3868303 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 3852799 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 186 (Y186*)

Ref Sequence

ENSEMBL: ENSMUSP00000109601 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005518] [ENSMUST00000052699] [ENSMUST00000113968] [ENSMUST00000113970] [ENSMUST00000113972] [ENSMUST00000113973] [ENSMUST00000113974] [ENSMUST00000113977] [ENSMUST00000152935] [ENSMUST00000176262] [ENSMUST00000176926]

AlphaFold

Q3U8K7

Predicted Effect

probably null
Transcript: ENSMUST00000005518
AA Change: Y186*

SMART Domains

Protein: ENSMUSP00000005518
Gene: ENSMUSG00000045098
AA Change: Y186*

Domain	Start	End	E-Value	Type
Blast:SET	58	126	4e-37	BLAST
SET	199	315	3.46e-17	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000052699
AA Change: Y186*

SMART Domains

Protein: ENSMUSP00000060162
Gene: ENSMUSG00000045098
AA Change: Y186*

Domain	Start	End	E-Value	Type
Blast:SET	58	126	1e-36	BLAST
SET	199	315	3.46e-17	SMART
low complexity region	368	379	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000113968
AA Change: Y186*

SMART Domains

Protein: ENSMUSP00000109601
Gene: ENSMUSG00000045098
AA Change: Y186*

Domain	Start	End	E-Value	Type
Blast:SET	58	126	4e-37	BLAST
SET	199	315	3.46e-17	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000113970
AA Change: Y186*

SMART Domains

Protein: ENSMUSP00000109603
Gene: ENSMUSG00000045098
AA Change: Y186*

Domain	Start	End	E-Value	Type
Blast:SET	58	126	1e-36	BLAST
SET	199	315	3.46e-17	SMART
low complexity region	368	379	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000113972
AA Change: Y186*

SMART Domains

Protein: ENSMUSP00000109605
Gene: ENSMUSG00000045098
AA Change: Y186*

Domain	Start	End	E-Value	Type
Blast:SET	58	126	1e-34	BLAST
SET	199	315	3.46e-17	SMART
low complexity region	368	379	N/A	INTRINSIC
low complexity region	397	408	N/A	INTRINSIC
low complexity region	439	452	N/A	INTRINSIC
low complexity region	536	547	N/A	INTRINSIC
low complexity region	814	846	N/A	INTRINSIC
low complexity region	863	874	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000113973
AA Change: Y186*

SMART Domains

Protein: ENSMUSP00000109606
Gene: ENSMUSG00000045098
AA Change: Y186*

Domain	Start	End	E-Value	Type
Blast:SET	58	126	1e-34	BLAST
SET	199	315	3.46e-17	SMART
low complexity region	368	379	N/A	INTRINSIC
low complexity region	397	408	N/A	INTRINSIC
low complexity region	439	452	N/A	INTRINSIC
low complexity region	536	547	N/A	INTRINSIC
low complexity region	814	846	N/A	INTRINSIC
low complexity region	863	874	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000113974
AA Change: Y163*

SMART Domains

Protein: ENSMUSP00000109607
Gene: ENSMUSG00000045098
AA Change: Y163*

Domain	Start	End	E-Value	Type
Blast:SET	58	107	6e-21	BLAST
SET	176	292	3.46e-17	SMART
low complexity region	345	356	N/A	INTRINSIC
low complexity region	374	385	N/A	INTRINSIC
low complexity region	416	429	N/A	INTRINSIC
low complexity region	513	524	N/A	INTRINSIC
low complexity region	791	823	N/A	INTRINSIC
low complexity region	840	851	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000113977
AA Change: Y163*

SMART Domains

Protein: ENSMUSP00000109610
Gene: ENSMUSG00000045098
AA Change: Y163*

Domain	Start	End	E-Value	Type
Blast:SET	58	107	6e-21	BLAST
SET	176	292	3.46e-17	SMART
low complexity region	345	356	N/A	INTRINSIC
low complexity region	374	385	N/A	INTRINSIC
low complexity region	416	429	N/A	INTRINSIC
low complexity region	513	524	N/A	INTRINSIC
low complexity region	791	823	N/A	INTRINSIC
low complexity region	840	851	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000152935
AA Change: Y144*

SMART Domains

Protein: ENSMUSP00000115984
Gene: ENSMUSG00000045098
AA Change: Y144*

Domain	Start	End	E-Value	Type
Blast:SET	16	84	9e-39	BLAST
PDB:3S8P\|B	22	212	1e-139	PDB
Blast:SET	157	212	4e-32	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000176262
AA Change: Y163*

SMART Domains

Protein: ENSMUSP00000135563
Gene: ENSMUSG00000045098
AA Change: Y163*

Domain	Start	End	E-Value	Type
Blast:SET	58	107	6e-21	BLAST
SET	176	292	3.46e-17	SMART
low complexity region	345	356	N/A	INTRINSIC
low complexity region	374	385	N/A	INTRINSIC
low complexity region	416	429	N/A	INTRINSIC
low complexity region	513	524	N/A	INTRINSIC
low complexity region	791	823	N/A	INTRINSIC
low complexity region	840	851	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000176926
AA Change: Y186*

SMART Domains

Protein: ENSMUSP00000135756
Gene: ENSMUSG00000045098
AA Change: Y186*

Domain	Start	End	E-Value	Type
Blast:SET	58	126	3e-36	BLAST
SET	199	315	3.46e-17	SMART
low complexity region	368	379	N/A	INTRINSIC

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (86/88)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains a SET domain. SET domains appear to be protein-protein interaction domains that mediate interactions with a family of proteins that display similarity with dual-specificity phosphatases (dsPTPases). The function of this gene has not been determined. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a knock-out allele are born at sub-Mendelian ratios, are smaller than control littermates, and die within a few hours of birth, probably due to alveolar defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl2	T	G	1: 156,450,104 (GRCm39)	N90K	possibly damaging	Het
Acox1	T	C	11: 116,069,001 (GRCm39)	T415A	possibly damaging	Het
Acy1	T	C	9: 106,314,921 (GRCm39)	M1V	probably null	Het
Akap13	G	A	7: 75,380,213 (GRCm39)	R462H	probably damaging	Het
Alpk3	C	A	7: 80,750,746 (GRCm39)	Y1505*	probably null	Het
Ankrd17	T	C	5: 90,390,902 (GRCm39)	N2256S	probably benign	Het
Ankrd22	C	A	19: 34,126,692 (GRCm39)	C46F	possibly damaging	Het
Arhgef5	A	T	6: 43,257,605 (GRCm39)	K1291*	probably null	Het
Arl9	T	A	5: 77,158,276 (GRCm39)	Y119*	probably null	Het
Asb14	T	C	14: 26,622,805 (GRCm39)	V89A	probably benign	Het
Banp	T	G	8: 122,676,588 (GRCm39)		probably null	Het
Btn2a2	T	C	13: 23,666,933 (GRCm39)	N224S	probably benign	Het
C1ra	C	T	6: 124,499,403 (GRCm39)	Q530*	probably null	Het
C2cd6	A	C	1: 59,107,844 (GRCm39)	S273A	probably benign	Het
Cd1d2	A	T	3: 86,895,583 (GRCm39)		probably null	Het
Cdc42bpb	T	C	12: 111,306,307 (GRCm39)	D132G	probably damaging	Het
Cfap45	C	A	1: 172,362,877 (GRCm39)	Y289*	probably null	Het
Chrdl2	T	C	7: 99,659,332 (GRCm39)		probably null	Het
Cilk1	A	G	9: 78,065,221 (GRCm39)	K377R	probably benign	Het
Cst5	C	T	2: 149,247,496 (GRCm39)	L71F	probably benign	Het
Dcaf11	T	C	14: 55,802,966 (GRCm39)	F292L	possibly damaging	Het
Dgcr8	A	G	16: 18,077,487 (GRCm39)	F641S	probably damaging	Het
Dnm3	G	A	1: 162,149,198 (GRCm39)		probably null	Het
Efcab3	G	T	11: 104,640,526 (GRCm39)	S1088I	probably benign	Het
Eral1	T	C	11: 77,966,219 (GRCm39)	K320E	probably damaging	Het
Eva1a	A	G	6: 82,069,002 (GRCm39)	T110A	possibly damaging	Het
Fbxo42	A	G	4: 140,926,917 (GRCm39)	D399G	possibly damaging	Het
Frs2	T	C	10: 116,910,007 (GRCm39)	T452A	possibly damaging	Het
Git2	T	A	5: 114,871,958 (GRCm39)	D542V	probably damaging	Het
Grk2	T	A	19: 4,356,063 (GRCm39)		probably benign	Het
Gsg1l2	A	G	11: 67,676,110 (GRCm39)	N158S	possibly damaging	Het
Hc	T	C	2: 34,918,063 (GRCm39)	N740S	probably benign	Het
Hectd1	T	C	12: 51,791,588 (GRCm39)		probably null	Het
Hemk1	A	G	9: 107,208,288 (GRCm39)		probably null	Het
Hormad2	G	T	11: 4,362,245 (GRCm39)	Y126*	probably null	Het
Hr	A	G	14: 70,795,652 (GRCm39)	E399G	possibly damaging	Het
Ilf3	C	A	9: 21,314,707 (GRCm39)	H780N	unknown	Het
Inpp5e	A	T	2: 26,298,161 (GRCm39)	S147T	probably benign	Het
Irag2	C	A	6: 145,119,427 (GRCm39)		probably null	Het
Jmjd6	T	C	11: 116,733,275 (GRCm39)	D134G	probably damaging	Het
Kif23	G	T	9: 61,844,457 (GRCm39)	Y120*	probably null	Het
Klk12	T	A	7: 43,422,780 (GRCm39)	Y236N	probably damaging	Het
Krtap9-5	A	G	11: 99,840,132 (GRCm39)	T278A	unknown	Het
Lca5	T	A	9: 83,305,509 (GRCm39)	D99V	probably damaging	Het
Leng9	A	G	7: 4,151,800 (GRCm39)	V292A	probably benign	Het
Lime1	A	G	2: 181,025,135 (GRCm39)	R231G	probably benign	Het
Mctp2	T	A	7: 71,861,438 (GRCm39)	E402D	probably damaging	Het
Mrpl28	T	A	17: 26,343,589 (GRCm39)	S116R	probably damaging	Het
Muc15	A	T	2: 110,561,862 (GRCm39)	R99S	probably benign	Het
Myh2	G	A	11: 67,083,368 (GRCm39)	A1444T	probably benign	Het
Mynn	T	A	3: 30,657,825 (GRCm39)	Y48N	probably damaging	Het
Myo1b	A	T	1: 51,836,639 (GRCm39)	V274E	possibly damaging	Het
Nemp1	T	A	10: 127,528,923 (GRCm39)	M209K	possibly damaging	Het
Nlrc4	G	T	17: 74,752,507 (GRCm39)	D625E	probably benign	Het
Or10al6	C	T	17: 38,082,910 (GRCm39)	A122V	probably damaging	Het
Or11a4	T	C	17: 37,536,276 (GRCm39)	F87L	probably benign	Het
Or4p4	T	C	2: 88,482,622 (GRCm39)	L42P	probably damaging	Het
Otog	T	C	7: 45,913,543 (GRCm39)	V792A	probably benign	Het
Paqr8	T	C	1: 21,005,442 (GRCm39)	Y199H	probably damaging	Het
Popdc3	A	G	10: 45,191,117 (GRCm39)	D76G	probably damaging	Het
Ppme1	T	C	7: 99,991,069 (GRCm39)	N210D	probably benign	Het
Prdm15	A	C	16: 97,636,842 (GRCm39)	Y158*	probably null	Het
Prrg2	A	T	7: 44,709,687 (GRCm39)	L70Q	probably benign	Het
Psmg4	C	T	13: 34,361,966 (GRCm39)	R85W	probably damaging	Het
Rab11fip4	A	T	11: 79,580,478 (GRCm39)	T437S	probably benign	Het
Rap2a	T	A	14: 120,716,338 (GRCm39)	M67K	probably damaging	Het
Rnf123	A	T	9: 107,946,208 (GRCm39)	H322Q	probably benign	Het
Rxfp2	A	T	5: 149,990,801 (GRCm39)	T521S	possibly damaging	Het
Scrn2	T	G	11: 96,923,992 (GRCm39)	V292G	possibly damaging	Het
Serpina3n	C	A	12: 104,377,656 (GRCm39)	P303H	probably benign	Het
Spop	C	T	11: 95,376,727 (GRCm39)	T260M	probably damaging	Het
Surf2	G	A	2: 26,809,354 (GRCm39)	G224D	probably benign	Het
Synm	T	G	7: 67,382,971 (GRCm39)	N669T	unknown	Het
Tmprss13	T	C	9: 45,239,721 (GRCm39)	S10P	unknown	Het
Trav9d-1	T	A	14: 53,029,970 (GRCm39)	S25T	probably benign	Het
Trpc3	A	T	3: 36,678,565 (GRCm39)	I840K	probably damaging	Het
Tsbp1	T	A	17: 34,636,539 (GRCm39)		probably null	Het
Tssc4	C	A	7: 142,622,999 (GRCm39)		probably benign	Het
Ttc39d	G	T	17: 80,523,579 (GRCm39)	R79S	possibly damaging	Het
Txlnb	T	A	10: 17,675,082 (GRCm39)	S78R	probably damaging	Het
Vmn1r142	T	A	7: 21,862,784 (GRCm39)	Q226L	possibly damaging	Het
Vmn1r230	T	C	17: 21,067,146 (GRCm39)	S112P	probably damaging	Het
Wrnip1	T	C	13: 33,000,360 (GRCm39)	F456L	possibly damaging	Het
Zc3h8	G	T	2: 128,775,215 (GRCm39)	H148Q	probably benign	Het
Zcchc3	A	G	2: 152,256,615 (GRCm39)	V28A	probably benign	Het
Zdbf2	T	A	1: 63,346,669 (GRCm39)	C1683S	probably benign	Het
Zfp874a	T	C	13: 67,573,723 (GRCm39)		probably null	Het
Zmym4	A	G	4: 126,776,029 (GRCm39)	S1260P	probably benign	Het

Other mutations in Kmt5b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01521:Kmt5b	APN	19	3,836,618 (GRCm39)	missense	possibly damaging	0.86
IGL02005:Kmt5b	APN	19	3,836,538 (GRCm39)	missense	possibly damaging	0.50
IGL02058:Kmt5b	APN	19	3,843,181 (GRCm39)	missense	probably damaging	1.00
IGL02069:Kmt5b	APN	19	3,857,335 (GRCm39)	missense	probably damaging	1.00
IGL02395:Kmt5b	APN	19	3,864,887 (GRCm39)	missense	probably benign	0.01
IGL02701:Kmt5b	APN	19	3,846,681 (GRCm39)	missense	probably benign	0.08
loony	UTSW	19	3,854,501 (GRCm39)	missense	possibly damaging	0.79
Tunes	UTSW	19	3,852,799 (GRCm39)	nonsense	probably null
P0047:Kmt5b	UTSW	19	3,843,223 (GRCm39)	splice site	probably benign
R0127:Kmt5b	UTSW	19	3,836,465 (GRCm39)	start codon destroyed	probably null	0.99
R1574:Kmt5b	UTSW	19	3,836,633 (GRCm39)	splice site	probably null
R1574:Kmt5b	UTSW	19	3,836,633 (GRCm39)	splice site	probably null
R1797:Kmt5b	UTSW	19	3,864,833 (GRCm39)	missense	probably benign	0.03
R2178:Kmt5b	UTSW	19	3,865,372 (GRCm39)	missense	possibly damaging	0.68
R2418:Kmt5b	UTSW	19	3,857,266 (GRCm39)	missense	probably benign	0.00
R4290:Kmt5b	UTSW	19	3,852,193 (GRCm39)	missense	possibly damaging	0.51
R4789:Kmt5b	UTSW	19	3,865,330 (GRCm39)	missense	probably benign	0.00
R4939:Kmt5b	UTSW	19	3,865,245 (GRCm39)	missense	possibly damaging	0.88
R5133:Kmt5b	UTSW	19	3,852,240 (GRCm39)	missense	probably damaging	1.00
R5392:Kmt5b	UTSW	19	3,852,127 (GRCm39)	missense	possibly damaging	0.84
R5568:Kmt5b	UTSW	19	3,836,538 (GRCm39)	missense	probably benign	0.00
R6029:Kmt5b	UTSW	19	3,852,104 (GRCm39)	missense	probably damaging	0.99
R6184:Kmt5b	UTSW	19	3,854,499 (GRCm39)	missense	probably damaging	1.00
R6649:Kmt5b	UTSW	19	3,857,295 (GRCm39)	missense	probably damaging	0.96
R7043:Kmt5b	UTSW	19	3,865,220 (GRCm39)	missense	possibly damaging	0.47
R7131:Kmt5b	UTSW	19	3,865,412 (GRCm39)	missense	probably benign	0.00
R7203:Kmt5b	UTSW	19	3,864,147 (GRCm39)	missense	probably damaging	1.00
R7287:Kmt5b	UTSW	19	3,854,501 (GRCm39)	missense	possibly damaging	0.79
R7850:Kmt5b	UTSW	19	3,865,043 (GRCm39)	missense	probably damaging	1.00
R8103:Kmt5b	UTSW	19	3,865,381 (GRCm39)	missense	probably benign	0.00
R8334:Kmt5b	UTSW	19	3,864,795 (GRCm39)	missense	probably benign	0.00
R8336:Kmt5b	UTSW	19	3,865,531 (GRCm39)	missense	probably damaging	1.00
R9192:Kmt5b	UTSW	19	3,854,442 (GRCm39)	missense	probably damaging	0.98
R9199:Kmt5b	UTSW	19	3,865,525 (GRCm39)	missense	probably damaging	1.00
R9683:Kmt5b	UTSW	19	3,865,587 (GRCm39)	makesense	probably null
Z1176:Kmt5b	UTSW	19	3,843,118 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCAGCAAAGCCAAGCCATTG -3'
(R):5'- TTTGAGCTTGGCACTGCAC -3'

Sequencing Primer
(F):5'- GCCAAGCCATTGAGTATTTACACTG -3'
(R):5'- TGGCTCACCCTAACCATGG -3'

Posted On

2019-10-07