Mutagenetix > Incidental Mutation

Incidental Mutation 'R8103:Kmt5b'

630622

Institutional Source

Beutler Lab

Gene Symbol

Kmt5b

Ensembl Gene

ENSMUSG00000045098

Gene Name

lysine methyltransferase 5B

Synonyms

Suv420h1, C630029K18Rik, Suv4-20h1

MMRRC Submission

067534-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8103 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3817421-3868303 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3865381 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 815 (D815G)

Ref Sequence

ENSEMBL: ENSMUSP00000109605 (fasta)

Gene Model

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

AlphaFold

Q3U8K7

Predicted Effect

probably benign
Transcript: ENSMUST00000113972
AA Change: D815G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000109605
Gene: ENSMUSG00000045098
AA Change: D815G

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 benign
Transcript: ENSMUST00000113973
AA Change: D815G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000109606
Gene: ENSMUSG00000045098
AA Change: D815G

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 benign
Transcript: ENSMUST00000113974
AA Change: D792G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000109607
Gene: ENSMUSG00000045098
AA Change: D792G

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 benign
Transcript: ENSMUST00000113977
AA Change: D792G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000109610
Gene: ENSMUSG00000045098
AA Change: D792G

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 benign
Transcript: ENSMUST00000176262
AA Change: D792G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000135563
Gene: ENSMUSG00000045098
AA Change: D792G

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: 99.8%
3x: 99.6%
10x: 98.7%
20x: 95.4%

Validation Efficiency

100% (83/83)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	T	C	10: 78,903,668 (GRCm39)	D216G	probably benign	Het
Abcg5	A	T	17: 84,965,956 (GRCm39)	I640K	possibly damaging	Het
Acadvl	T	C	11: 69,905,168 (GRCm39)	K128R	probably benign	Het
Angptl7	T	A	4: 148,581,018 (GRCm39)	N259I	probably damaging	Het
Ankrd35	A	G	3: 96,586,997 (GRCm39)	K104R	possibly damaging	Het
Antxr1	T	C	6: 87,165,198 (GRCm39)	N413S	probably damaging	Het
Arhgap26	A	G	18: 39,504,177 (GRCm39)	T376A		Het
Atf6b	T	G	17: 34,872,949 (GRCm39)	S622A	probably damaging	Het
Atp5pd	T	A	11: 115,306,851 (GRCm39)	Y115F	possibly damaging	Het
Axin2	T	C	11: 108,822,369 (GRCm39)	L307P	probably damaging	Het
B4galnt4	C	T	7: 140,644,564 (GRCm39)	T153M	possibly damaging	Het
Brd8	A	G	18: 34,740,231 (GRCm39)	V604A	probably benign	Het
Ccser2	T	C	14: 36,618,240 (GRCm39)	Y765C	probably damaging	Het
Cdh26	A	G	2: 178,110,006 (GRCm39)	D433G	probably damaging	Het
Cep85l	T	G	10: 53,175,420 (GRCm39)		probably null	Het
Ciao3	A	G	17: 25,996,395 (GRCm39)	T135A	probably benign	Het
Col23a1	T	A	11: 51,461,014 (GRCm39)		probably null	Het
Col7a1	A	G	9: 108,804,452 (GRCm39)	D2261G	unknown	Het
Comp	C	A	8: 70,833,936 (GRCm39)	N650K	probably damaging	Het
Copb1	A	G	7: 113,834,202 (GRCm39)	M476T	possibly damaging	Het
Dapk1	T	A	13: 60,897,009 (GRCm39)	S743T	probably damaging	Het
Ddx39a	A	G	8: 84,451,105 (GRCm39)		probably null	Het
Dgkb	A	G	12: 38,186,580 (GRCm39)	H243R	probably damaging	Het
Dsg1c	T	G	18: 20,416,171 (GRCm39)	Y691D	probably damaging	Het
Duox2	C	T	2: 122,117,535 (GRCm39)	S933N	probably benign	Het
Ece1	T	C	4: 137,641,133 (GRCm39)	S19P	probably benign	Het
Edem1	G	A	6: 108,829,524 (GRCm39)	E548K	probably damaging	Het
Eif4a3l2	C	T	6: 116,528,468 (GRCm39)	T115I	probably damaging	Het
Fpr-rs6	A	G	17: 20,402,839 (GRCm39)	V174A	possibly damaging	Het
Fyco1	A	T	9: 123,658,453 (GRCm39)	N574K	probably benign	Het
Glb1l2	T	A	9: 26,676,980 (GRCm39)	M551L	probably benign	Het
Gm7694	G	T	1: 170,130,284 (GRCm39)	P38Q	probably damaging	Het
Grip1	A	G	10: 119,814,440 (GRCm39)	T324A	probably benign	Het
Htr3b	A	G	9: 48,857,849 (GRCm39)	V131A	possibly damaging	Het
Igfbp1	T	C	11: 7,148,106 (GRCm39)	C50R	probably damaging	Het
Il5ra	A	G	6: 106,692,611 (GRCm39)	I378T	possibly damaging	Het
Ints11	T	C	4: 155,972,687 (GRCm39)	L504P	possibly damaging	Het
Iqca1	A	T	1: 89,987,330 (GRCm39)	I74N		Het
Kbtbd12	C	T	6: 88,595,663 (GRCm39)	A56T	probably damaging	Het
Kcnq5	T	C	1: 21,549,620 (GRCm39)	N369S	possibly damaging	Het
Lnpk	T	C	2: 74,352,599 (GRCm39)	Q361R	probably benign	Het
Mep1b	T	C	18: 21,222,442 (GRCm39)	I277T	possibly damaging	Het
Naip6	G	A	13: 100,437,851 (GRCm39)	T385I	probably benign	Het
Npepl1	A	T	2: 173,953,002 (GRCm39)	I95F	probably benign	Het
Nxpe4	T	C	9: 48,304,020 (GRCm39)	F36L	probably benign	Het
Optn	C	A	2: 5,045,013 (GRCm39)	C243F	probably damaging	Het
Or10al7	A	T	17: 38,365,903 (GRCm39)	C185S	probably damaging	Het
Or1e33	C	T	11: 73,738,735 (GRCm39)	C72Y	probably damaging	Het
Paqr7	T	C	4: 134,234,821 (GRCm39)	V226A	probably benign	Het
Pcdh12	T	A	18: 38,415,212 (GRCm39)	I638F	probably damaging	Het
Pfas	T	C	11: 68,883,119 (GRCm39)	T722A	probably damaging	Het
Pkhd1	T	A	1: 20,270,981 (GRCm39)	I3191F	probably damaging	Het
Plxnc1	T	A	10: 94,706,944 (GRCm39)	H531L	probably benign	Het
Pom121l2	A	G	13: 22,166,544 (GRCm39)	T272A	probably benign	Het
Pparg	T	C	6: 115,450,102 (GRCm39)	V367A	possibly damaging	Het
Psen2	A	T	1: 180,068,356 (GRCm39)	M99K	probably damaging	Het
Ranbp10	T	C	8: 106,499,179 (GRCm39)	T536A	probably benign	Het
Rbfox2	G	T	15: 76,983,654 (GRCm39)	P284T	probably damaging	Het
Rbmyf9	C	T	Y: 3,776,675 (GRCm39)	T104I	possibly damaging	Het
Rere	G	A	4: 150,701,796 (GRCm39)	R25H	probably damaging	Het
Rhpn1	T	A	15: 75,581,115 (GRCm39)	L119Q	probably null	Het
Rlig1	C	A	10: 100,413,110 (GRCm39)	V178F	probably benign	Het
Rreb1	A	G	13: 38,125,677 (GRCm39)	T1328A	probably benign	Het
Septin11	A	T	5: 93,309,007 (GRCm39)		probably null	Het
Skida1	T	A	2: 18,052,549 (GRCm39)	Q201L	probably benign	Het
Sptan1	T	A	2: 29,910,055 (GRCm39)	I1805N	probably damaging	Het
Stard13	T	A	5: 150,970,435 (GRCm39)	Q853L	possibly damaging	Het
Susd1	T	A	4: 59,365,916 (GRCm39)		probably null	Het
Szt2	T	A	4: 118,245,061 (GRCm39)	Q1158H	possibly damaging	Het
Tbcc	A	C	17: 47,202,046 (GRCm39)	D144A	probably benign	Het
Tsn	A	G	1: 118,232,437 (GRCm39)	I146T	probably benign	Het
Umad1	A	T	6: 8,427,121 (GRCm39)	T99S	probably damaging	Het
Vcan	T	A	13: 89,805,777 (GRCm39)	E3261V	probably damaging	Het
Vcan	C	A	13: 89,851,439 (GRCm39)	E1174*	probably null	Het
Vmn2r100	C	A	17: 19,751,415 (GRCm39)		probably null	Het
Vmn2r65	A	G	7: 84,595,919 (GRCm39)	I255T	probably damaging	Het
Vps35l	T	C	7: 118,342,855 (GRCm39)	S47P	probably benign	Het
Wdr70	A	G	15: 8,006,612 (GRCm39)	L313P	possibly damaging	Het
Ythdf2	C	A	4: 131,932,089 (GRCm39)	R357L	probably damaging	Het
Zfp523	T	C	17: 28,420,267 (GRCm39)	C262R	probably damaging	Het
Zfp553	T	C	7: 126,835,936 (GRCm39)	V497A	probably benign	Het
Zhx1	A	G	15: 57,916,662 (GRCm39)	L528S	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
R7468:Kmt5b	UTSW	19	3,852,799 (GRCm39)	nonsense	probably null
R7850:Kmt5b	UTSW	19	3,865,043 (GRCm39)	missense	probably damaging	1.00
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'- AAGCTCAGTAACGGGGTCAG -3'
(R):5'- CTCCAGAACAATGAGTGAGCG -3'

Sequencing Primer
(F):5'- TAACGGGGTCAGCGCAG -3'
(R):5'- TGAGTGAGCGCTCATGC -3'

Posted On

2020-06-30