Mutagenetix > Incidental Mutation

Incidental Mutation 'R7203:Kmt5b'

560836

Institutional Source

Beutler Lab

Gene Symbol

Kmt5b

Ensembl Gene

ENSMUSG00000045098

Gene Name

lysine methyltransferase 5B

Synonyms

C630029K18Rik, Suv420h1, Suv4-20h1

MMRRC Submission

045281-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7203 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3767421-3818303 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3814147 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 404 (K404E)

Ref Sequence

ENSEMBL: ENSMUSP00000109605 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113972] [ENSMUST00000113973] [ENSMUST00000113974] [ENSMUST00000113977] [ENSMUST00000176262]

AlphaFold

Q3U8K7

Predicted Effect

probably damaging
Transcript: ENSMUST00000113972
AA Change: K404E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000109605
Gene: ENSMUSG00000045098
AA Change: K404E

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 damaging
Transcript: ENSMUST00000113973
AA Change: K404E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000109606
Gene: ENSMUSG00000045098
AA Change: K404E

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 damaging
Transcript: ENSMUST00000113974
AA Change: K381E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000109607
Gene: ENSMUSG00000045098
AA Change: K381E

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 damaging
Transcript: ENSMUST00000113977
AA Change: K381E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000109610
Gene: ENSMUSG00000045098
AA Change: K381E

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 damaging
Transcript: ENSMUST00000176262
AA Change: K381E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000135563
Gene: ENSMUSG00000045098
AA Change: K381E

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

Coding Region Coverage

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

Validation Efficiency

100% (108/108)

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: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930544G11Rik	T	C	6: 65,953,333 (GRCm38)	V184A	probably benign	Het
4932415D10Rik	G	A	10: 82,293,414 (GRCm38)	T1254I	probably benign	Het
Aars2	A	G	17: 45,516,571 (GRCm38)	Y513C	probably damaging	Het
Ackr2	G	A	9: 121,908,967 (GRCm38)	C136Y	probably damaging	Het
Aldh1l1	A	G	6: 90,570,800 (GRCm38)	K414R	probably benign	Het
Arl9	A	G	5: 77,007,271 (GRCm38)	Y83C	possibly damaging	Het
Atp10a	G	T	7: 58,786,473 (GRCm38)	R337L	probably benign	Het
Atp6v1g3	A	T	1: 138,287,800 (GRCm38)	Q66L	probably damaging	Het
Atp7b	A	T	8: 21,997,335 (GRCm38)	N1321K	probably damaging	Het
Axdnd1	A	T	1: 156,382,389 (GRCm38)	M437K	probably damaging	Het
Bap1	C	A	14: 31,254,169 (GRCm38)	P147Q	probably damaging	Het
Bicd1	C	T	6: 149,512,905 (GRCm38)	T372I	possibly damaging	Het
Brix1	T	C	15: 10,483,292 (GRCm38)		probably null	Het
Btrc	A	G	19: 45,513,528 (GRCm38)		probably null	Het
C130050O18Rik	A	C	5: 139,414,374 (GRCm38)	I61L	probably benign	Het
Cfap161	A	G	7: 83,776,050 (GRCm38)	S278P	probably damaging	Het
Cgnl1	T	C	9: 71,724,533 (GRCm38)	D512G	possibly damaging	Het
Chat	T	C	14: 32,419,057 (GRCm38)	D461G	probably damaging	Het
Chl1	T	A	6: 103,691,674 (GRCm38)	V456D	probably benign	Het
Cib1	T	C	7: 80,232,372 (GRCm38)	T20A	possibly damaging	Het
Cubn	T	G	2: 13,351,003 (GRCm38)	H1806P	probably benign	Het
Dapk1	T	A	13: 60,696,335 (GRCm38)	V56E	possibly damaging	Het
Dennd4a	A	G	9: 64,896,474 (GRCm38)	N1032D	probably benign	Het
Dlg5	T	A	14: 24,138,655 (GRCm38)	E1756V	probably damaging	Het
Dnah1	T	C	14: 31,274,382 (GRCm38)	T2666A	probably benign	Het
Dnah11	A	T	12: 118,045,522 (GRCm38)	I2135N	possibly damaging	Het
Dnah6	T	A	6: 73,173,545 (GRCm38)	E745V	probably benign	Het
Dock8	A	T	19: 25,181,563 (GRCm38)	N1695I	probably damaging	Het
Esf1	C	T	2: 140,164,219 (GRCm38)	R336Q	possibly damaging	Het
Fam161a	A	G	11: 23,021,664 (GRCm38)		probably null	Het
Fam89a	T	C	8: 124,751,679 (GRCm38)	E44G	possibly damaging	Het
Fndc3b	A	T	3: 27,456,485 (GRCm38)	D829E	probably benign	Het
Fxr1	C	T	3: 34,046,540 (GRCm38)	T125I	possibly damaging	Het
Gfer	T	C	17: 24,695,862 (GRCm38)	D69G	probably damaging	Het
Gm16486	A	T	8: 70,716,948 (GRCm38)	E1229V	probably benign	Het
Gm2000	A	T	1: 156,366,087 (GRCm38)	I4F	probably damaging	Het
Gpatch2l	T	A	12: 86,288,937 (GRCm38)	S471T	probably benign	Het
Grm7	T	G	6: 111,358,569 (GRCm38)	I647S	possibly damaging	Het
Gsn	A	G	2: 35,298,795 (GRCm38)	I447V	probably benign	Het
H2al2c	C	T	Y: 2,599,234 (GRCm38)	L46F	possibly damaging	Het
Hao2	A	C	3: 98,877,282 (GRCm38)		probably null	Het
Ifitm10	T	C	7: 142,328,568 (GRCm38)	E155G	probably benign	Het
Igkv8-16	C	A	6: 70,386,810 (GRCm38)	W76L	probably benign	Het
Igsf21	A	T	4: 140,107,337 (GRCm38)	F75I	possibly damaging	Het
Ints14	T	A	9: 64,964,419 (GRCm38)	M13K	probably damaging	Het
Ipmk	A	T	10: 71,363,468 (GRCm38)	D53V	possibly damaging	Het
Itga8	A	G	2: 12,230,095 (GRCm38)	F451L	possibly damaging	Het
Jup	A	G	11: 100,381,734 (GRCm38)	F284S	probably damaging	Het
Kctd5	T	C	17: 24,073,235 (GRCm38)	D65G	probably benign	Het
Klrc1	A	T	6: 129,677,221 (GRCm38)	S148T	probably benign	Het
Krt9	A	C	11: 100,190,791 (GRCm38)	M304R	probably damaging	Het
Krtap5-1	A	T	7: 142,296,562 (GRCm38)	S143T	unknown	Het
Kyat3	A	G	3: 142,720,401 (GRCm38)	N68D	probably damaging	Het
Kynu	A	G	2: 43,681,353 (GRCm38)	D427G	probably damaging	Het
Leo1	A	G	9: 75,445,996 (GRCm38)		probably null	Het
Loxhd1	A	G	18: 77,414,196 (GRCm38)	D1737G	probably damaging	Het
Lpo	C	A	11: 87,809,251 (GRCm38)	L521F	possibly damaging	Het
Lrrk1	A	G	7: 66,270,825 (GRCm38)	S1477P	probably damaging	Het
Lrrtm1	C	A	6: 77,243,601 (GRCm38)	L14M	probably damaging	Het
Ly75	G	A	2: 60,323,852 (GRCm38)	R1084*	probably null	Het
Mcf2l	A	G	8: 13,010,456 (GRCm38)	D764G	probably benign	Het
Mrgprd	A	T	7: 145,322,349 (GRCm38)	D319V	probably benign	Het
Mut	A	T	17: 40,938,673 (GRCm38)	M180L	probably benign	Het
Myom3	T	C	4: 135,795,179 (GRCm38)	L897P	possibly damaging	Het
Ncapd2	A	T	6: 125,184,328 (GRCm38)	M247K	possibly damaging	Het
Nlrp2	T	C	7: 5,317,534 (GRCm38)	D868G	probably damaging	Het
Npy6r	A	G	18: 44,275,932 (GRCm38)	N140S	probably damaging	Het
Nsmce4a	T	C	7: 130,539,872 (GRCm38)	K196E	probably benign	Het
Nup88	T	C	11: 70,945,254 (GRCm38)	K532R	probably benign	Het
Olfr424	T	A	1: 174,137,114 (GRCm38)	Y123*	probably null	Het
Olfr947-ps1	A	T	9: 39,289,293 (GRCm38)	I199N	unknown	Het
Olfr974	T	A	9: 39,942,509 (GRCm38)	V83E	probably benign	Het
Pbxip1	A	T	3: 89,447,428 (GRCm38)	D418V	possibly damaging	Het
Pde2a	C	A	7: 101,509,944 (GRCm38)	R761S	possibly damaging	Het
Phf10	A	T	17: 14,946,313 (GRCm38)	C432S	probably damaging	Het
Pitpnm2	T	C	5: 124,121,459 (GRCm38)	D1271G	probably damaging	Het
Plin1	A	T	7: 79,723,444 (GRCm38)	L259Q	probably damaging	Het
Pmpca	G	C	2: 26,395,034 (GRCm38)	E424Q	possibly damaging	Het
Pou6f2	T	A	13: 18,239,794 (GRCm38)	Q132L	unknown	Het
Ppa2	A	T	3: 133,330,438 (GRCm38)	N118Y	possibly damaging	Het
Prickle2	T	C	6: 92,410,978 (GRCm38)	E537G	possibly damaging	Het
Prl3d1	A	G	13: 27,098,701 (GRCm38)	I141V	possibly damaging	Het
Prl8a1	A	T	13: 27,574,189 (GRCm38)	V179D	probably damaging	Het
Prr14l	A	G	5: 32,827,145 (GRCm38)	F1669L	probably benign	Het
Prrg4	T	A	2: 104,839,442 (GRCm38)	E110V	possibly damaging	Het
Rfx5	C	A	3: 94,958,876 (GRCm38)	H495Q	unknown	Het
Rgl2	C	T	17: 33,933,429 (GRCm38)	R367W	probably damaging	Het
Rpe65	A	G	3: 159,622,854 (GRCm38)	Y433C	probably damaging	Het
Rtn4rl1	C	T	11: 75,265,750 (GRCm38)	S336F	possibly damaging	Het
Scn2a	A	G	2: 65,748,319 (GRCm38)	D1446G	probably benign	Het
Sdk1	C	A	5: 142,046,176 (GRCm38)	T1002K	probably benign	Het
Slc9b2	T	C	3: 135,330,661 (GRCm38)	S409P	probably benign	Het
Sowahc	A	G	10: 59,222,278 (GRCm38)	T79A	probably benign	Het
Stk35	T	A	2: 129,801,593 (GRCm38)	C166S	probably benign	Het
Tarbp2	A	G	15: 102,522,487 (GRCm38)	H225R	probably benign	Het
Tdrd12	T	A	7: 35,489,223 (GRCm38)	K530*	probably null	Het
Terf2ip	A	G	8: 112,017,986 (GRCm38)	I312V	probably benign	Het
Tgfb1	T	C	7: 25,692,539 (GRCm38)		probably null	Het
Thbs2	T	C	17: 14,671,458 (GRCm38)	D939G	probably damaging	Het
Ube4b	A	T	4: 149,398,610 (GRCm38)	I67K	probably benign	Het
Ubn1	G	T	16: 5,077,216 (GRCm38)	V709F	possibly damaging	Het
Ugt2b5	T	C	5: 87,128,399 (GRCm38)	K339E	possibly damaging	Het
Vax2	T	C	6: 83,737,900 (GRCm38)	S266P	probably damaging	Het
Vmn2r108	A	G	17: 20,462,776 (GRCm38)	I722T	probably benign	Het
Vmn2r95	A	G	17: 18,441,315 (GRCm38)	K441R	probably benign	Het
Wapl	C	A	14: 34,736,691 (GRCm38)	D903E	probably benign	Het
Wee1	T	A	7: 110,134,794 (GRCm38)	V442D	probably benign	Het
Zan	T	C	5: 137,434,096 (GRCm38)	N2313S	unknown	Het

Other mutations in Kmt5b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01521:Kmt5b	APN	19	3,786,618 (GRCm38)	missense	possibly damaging	0.86
IGL02005:Kmt5b	APN	19	3,786,538 (GRCm38)	missense	possibly damaging	0.50
IGL02058:Kmt5b	APN	19	3,793,181 (GRCm38)	missense	probably damaging	1.00
IGL02069:Kmt5b	APN	19	3,807,335 (GRCm38)	missense	probably damaging	1.00
IGL02395:Kmt5b	APN	19	3,814,887 (GRCm38)	missense	probably benign	0.01
IGL02701:Kmt5b	APN	19	3,796,681 (GRCm38)	missense	probably benign	0.08
loony	UTSW	19	3,804,501 (GRCm38)	missense	possibly damaging	0.79
Tunes	UTSW	19	3,802,799 (GRCm38)	nonsense	probably null
P0047:Kmt5b	UTSW	19	3,793,223 (GRCm38)	splice site	probably benign
R0127:Kmt5b	UTSW	19	3,786,465 (GRCm38)	start codon destroyed	probably null	0.99
R1574:Kmt5b	UTSW	19	3,786,633 (GRCm38)	splice site	probably null
R1574:Kmt5b	UTSW	19	3,786,633 (GRCm38)	splice site	probably null
R1797:Kmt5b	UTSW	19	3,814,833 (GRCm38)	missense	probably benign	0.03
R2178:Kmt5b	UTSW	19	3,815,372 (GRCm38)	missense	possibly damaging	0.68
R2418:Kmt5b	UTSW	19	3,807,266 (GRCm38)	missense	probably benign	0.00
R4290:Kmt5b	UTSW	19	3,802,193 (GRCm38)	missense	possibly damaging	0.51
R4789:Kmt5b	UTSW	19	3,815,330 (GRCm38)	missense	probably benign	0.00
R4939:Kmt5b	UTSW	19	3,815,245 (GRCm38)	missense	possibly damaging	0.88
R5133:Kmt5b	UTSW	19	3,802,240 (GRCm38)	missense	probably damaging	1.00
R5392:Kmt5b	UTSW	19	3,802,127 (GRCm38)	missense	possibly damaging	0.84
R5568:Kmt5b	UTSW	19	3,786,538 (GRCm38)	missense	probably benign	0.00
R6029:Kmt5b	UTSW	19	3,802,104 (GRCm38)	missense	probably damaging	0.99
R6184:Kmt5b	UTSW	19	3,804,499 (GRCm38)	missense	probably damaging	1.00
R6649:Kmt5b	UTSW	19	3,807,295 (GRCm38)	missense	probably damaging	0.96
R7043:Kmt5b	UTSW	19	3,815,220 (GRCm38)	missense	possibly damaging	0.47
R7131:Kmt5b	UTSW	19	3,815,412 (GRCm38)	missense	probably benign	0.00
R7287:Kmt5b	UTSW	19	3,804,501 (GRCm38)	missense	possibly damaging	0.79
R7468:Kmt5b	UTSW	19	3,802,799 (GRCm38)	nonsense	probably null
R7850:Kmt5b	UTSW	19	3,815,043 (GRCm38)	missense	probably damaging	1.00
R8103:Kmt5b	UTSW	19	3,815,381 (GRCm38)	missense	probably benign	0.00
R8334:Kmt5b	UTSW	19	3,814,795 (GRCm38)	missense	probably benign	0.00
R8336:Kmt5b	UTSW	19	3,815,531 (GRCm38)	missense	probably damaging	1.00
R9192:Kmt5b	UTSW	19	3,804,442 (GRCm38)	missense	probably damaging	0.98
R9199:Kmt5b	UTSW	19	3,815,525 (GRCm38)	missense	probably damaging	1.00
R9683:Kmt5b	UTSW	19	3,815,587 (GRCm38)	makesense	probably null
Z1176:Kmt5b	UTSW	19	3,793,118 (GRCm38)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCAATATAGGGGAGCTGTTCTG -3'
(R):5'- CACGACTTTGGGCTCCTTAAG -3'

Sequencing Primer
(F):5'- AGCTGTTCTGGTGAGACTGTTCC -3'
(R):5'- GATGCGCTCTTCTGGTCCAG -3'

Posted On

2019-06-26