Mutagenetix > Incidental Mutation

Incidental Mutation 'R7131:Kmt5b'

552711

Institutional Source

Beutler Lab

Gene Symbol

Kmt5b

Ensembl Gene

ENSMUSG00000045098

Gene Name

lysine methyltransferase 5B

Synonyms

Suv420h1, C630029K18Rik, Suv4-20h1

MMRRC Submission

045216-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7131 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3817421-3868303 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 3865412 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 825 (D825E)

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: D825E

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

SMART Domains

Protein: ENSMUSP00000109605
Gene: ENSMUSG00000045098
AA Change: D825E

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: D825E

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

SMART Domains

Protein: ENSMUSP00000109606
Gene: ENSMUSG00000045098
AA Change: D825E

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: D802E

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

SMART Domains

Protein: ENSMUSP00000109607
Gene: ENSMUSG00000045098
AA Change: D802E

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: D802E

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

SMART Domains

Protein: ENSMUSP00000109610
Gene: ENSMUSG00000045098
AA Change: D802E

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: D802E

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

SMART Domains

Protein: ENSMUSP00000135563
Gene: ENSMUSG00000045098
AA Change: D802E

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: 99.0%

Validation Efficiency

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm4	A	G	4: 144,396,637 (GRCm39)	V365A	probably damaging	Het
Abca13	A	G	11: 9,241,893 (GRCm39)	N1252S	probably benign	Het
Abcc3	A	T	11: 94,255,857 (GRCm39)	F543I	probably damaging	Het
Adam15	T	A	3: 89,254,287 (GRCm39)	Q170L	possibly damaging	Het
Aldoc	A	G	11: 78,215,282 (GRCm39)	I19V	possibly damaging	Het
Aoc1l1	T	A	6: 48,953,306 (GRCm39)	Y410*	probably null	Het
Atrip	T	C	9: 108,889,488 (GRCm39)	I711M	probably benign	Het
Brwd1	A	C	16: 95,867,698 (GRCm39)	L149R	probably damaging	Het
Capn9	A	T	8: 125,303,017 (GRCm39)	D45V	probably damaging	Het
Card9	G	A	2: 26,248,847 (GRCm39)	R101C	probably damaging	Het
Ccdc87	A	G	19: 4,891,785 (GRCm39)	E759G	probably damaging	Het
Ccn1	T	C	3: 145,354,536 (GRCm39)	D125G	probably damaging	Het
Cep250	T	C	2: 155,806,997 (GRCm39)	M193T	probably damaging	Het
Cfap54	T	C	10: 92,656,966 (GRCm39)	K3029E	probably benign	Het
Chrna9	G	A	5: 66,134,484 (GRCm39)	G445D	possibly damaging	Het
Cluap1	C	T	16: 3,758,639 (GRCm39)	S367L	probably benign	Het
Col5a1	A	G	2: 27,819,498 (GRCm39)	D200G	unknown	Het
Crhr2	T	C	6: 55,069,112 (GRCm39)	N388D		Het
Cyp2b23	A	G	7: 26,380,838 (GRCm39)	L129P	probably benign	Het
Dctd	A	G	8: 48,565,075 (GRCm39)	S67G	probably benign	Het
Dhtkd1	C	G	2: 5,908,881 (GRCm39)	V738L	probably benign	Het
Dnah17	C	T	11: 117,970,484 (GRCm39)	D2173N	probably benign	Het
Dnah7c	G	T	1: 46,720,932 (GRCm39)	A2819S	probably benign	Het
Dnai7	A	T	6: 145,123,132 (GRCm39)	L578Q	probably null	Het
Dot1l	A	G	10: 80,628,175 (GRCm39)	H1071R	unknown	Het
Dync2h1	T	A	9: 7,075,786 (GRCm39)	D3027V	probably damaging	Het
Efl1	A	G	7: 82,307,272 (GRCm39)	Y56C	probably damaging	Het
Eif4e1b	A	T	13: 54,931,913 (GRCm39)	R29W	probably null	Het
Evc2	A	G	5: 37,567,602 (GRCm39)	R860G	probably damaging	Het
Fbxl12	G	A	9: 20,555,679 (GRCm39)		probably benign	Het
Fibp	T	A	19: 5,511,519 (GRCm39)	I129N	probably damaging	Het
Folh1	G	T	7: 86,375,320 (GRCm39)	H555Q	probably damaging	Het
Gcnt4	A	T	13: 97,083,027 (GRCm39)	T108S	probably damaging	Het
H1f7	T	A	15: 98,154,250 (GRCm39)	K300*	probably null	Het
Hecw2	A	T	1: 53,904,280 (GRCm39)	V1156E	probably damaging	Het
Herc3	C	G	6: 58,864,409 (GRCm39)	A681G	probably damaging	Het
Igkv13-84	T	A	6: 68,916,764 (GRCm39)	C20*	probably null	Het
Iho1	A	T	9: 108,294,619 (GRCm39)	D98E	probably benign	Het
Iqca1l	A	G	5: 24,753,954 (GRCm39)	V435A	possibly damaging	Het
Ivd	C	A	2: 118,700,255 (GRCm39)	T94K	probably damaging	Het
Kank2	C	T	9: 21,705,975 (GRCm39)	A348T	probably benign	Het
Kcnma1	T	C	14: 23,417,562 (GRCm39)	Y889C	probably damaging	Het
Kif13b	T	C	14: 65,010,517 (GRCm39)	V1272A	probably damaging	Het
Kmt2d	GCTGCTGCT	GCTGCTGCTCCTGCTGCT	15: 98,747,497 (GRCm39)		probably benign	Het
Krt39	C	T	11: 99,411,697 (GRCm39)	A130T	probably benign	Het
Krtap4-9	C	T	11: 99,676,283 (GRCm39)	T68I	unknown	Het
Lmbr1l	A	T	15: 98,804,204 (GRCm39)	V365E	probably benign	Het
Lonp1	C	T	17: 56,924,814 (GRCm39)	R531Q	probably damaging	Het
Mecom	T	A	3: 30,035,094 (GRCm39)	H194L	probably damaging	Het
Mlx	C	T	11: 100,980,068 (GRCm39)	H188Y	probably damaging	Het
Mrps10	T	C	17: 47,685,940 (GRCm39)	S77P	probably damaging	Het
Mst1	A	G	9: 107,962,130 (GRCm39)	E716G	probably null	Het
Mttp	C	T	3: 137,821,893 (GRCm39)	V210I	probably benign	Het
Mug2	T	C	6: 122,052,206 (GRCm39)	V988A	probably damaging	Het
Ndufb6	A	G	4: 40,279,336 (GRCm39)	M1T	probably null	Het
Neurog1	A	T	13: 56,399,563 (GRCm39)	N61K	probably benign	Het
Nlrp14	A	G	7: 106,784,021 (GRCm39)	D581G	possibly damaging	Het
Nlrp4a	C	A	7: 26,149,258 (GRCm39)	N288K	probably benign	Het
Notch3	T	A	17: 32,363,191 (GRCm39)	H1264L	probably benign	Het
Or1e25	A	T	11: 73,493,562 (GRCm39)	D52V	possibly damaging	Het
Or1e34	A	T	11: 73,778,780 (GRCm39)	C139*	probably null	Het
Or3a1c	A	G	11: 74,046,606 (GRCm39)	M209V	probably benign	Het
Patl2	A	T	2: 121,952,263 (GRCm39)		probably null	Het
Pfkfb4	A	G	9: 108,836,370 (GRCm39)	T133A	probably benign	Het
Pla2g4f	T	C	2: 120,135,035 (GRCm39)	E471G	probably null	Het
Postn	T	C	3: 54,270,056 (GRCm39)	V45A	probably damaging	Het
Ppan	T	A	9: 20,802,450 (GRCm39)	V257E	possibly damaging	Het
Ptcra	C	G	17: 47,074,522 (GRCm39)	A7P	probably damaging	Het
Ptprd	C	T	4: 75,984,577 (GRCm39)	R523H	probably damaging	Het
Pycr3	A	T	15: 75,790,544 (GRCm39)	I105N	possibly damaging	Het
Rfx1	C	A	8: 84,821,708 (GRCm39)	Q815K	probably damaging	Het
Rfx3	T	A	19: 27,746,028 (GRCm39)	K668*	probably null	Het
Ryr2	A	T	13: 11,655,213 (GRCm39)	D3661E	possibly damaging	Het
Ryr2	A	G	13: 11,683,697 (GRCm39)		probably null	Het
Sec23ip	T	A	7: 128,381,364 (GRCm39)	S974T	probably damaging	Het
Semp2l2a	A	T	8: 13,886,982 (GRCm39)	W370R	probably damaging	Het
Setbp1	A	G	18: 79,130,175 (GRCm39)	F19S	probably benign	Het
Setd1a	AAGCAGCAGCAGCAGCAGCAG	AAGCAGCAGCAGCAGCAG	7: 127,395,590 (GRCm39)		probably benign	Het
Sh3pxd2b	A	G	11: 32,372,072 (GRCm39)	K413R	probably damaging	Het
Slc39a12	T	C	2: 14,454,614 (GRCm39)	V544A	probably damaging	Het
Slc6a7	T	C	18: 61,135,274 (GRCm39)	Y418C	probably damaging	Het
Snx19	T	G	9: 30,339,189 (GRCm39)	I109S	probably damaging	Het
Spart	T	C	3: 55,029,220 (GRCm39)		probably null	Het
Sptbn2	A	T	19: 4,799,488 (GRCm39)	Q2097L	probably null	Het
Syne1	T	C	10: 5,178,221 (GRCm39)	K4751R	probably damaging	Het
Tigit	C	A	16: 43,482,615 (GRCm39)	G40C	probably damaging	Het
Tmem181a	T	A	17: 6,348,247 (GRCm39)	I264K	probably damaging	Het
Tom1	T	A	8: 75,783,877 (GRCm39)	I287N	possibly damaging	Het
Top2a	G	A	11: 98,895,008 (GRCm39)	P864L	possibly damaging	Het
Trmt44	A	T	5: 35,728,410 (GRCm39)	V290E	probably damaging	Het
Try4	T	C	6: 41,281,337 (GRCm39)	I93T	probably benign	Het
Usp24	T	A	4: 106,239,500 (GRCm39)	H1147Q	possibly damaging	Het
Uspl1	A	T	5: 149,130,745 (GRCm39)	R109S	probably benign	Het
Vav3	T	A	3: 109,571,662 (GRCm39)	F755I	probably damaging	Het
Vezt	A	T	10: 93,806,409 (GRCm39)	Y667*	probably null	Het
Vmn1r231	T	A	17: 21,110,140 (GRCm39)	L258F	possibly damaging	Het
Zfp207	T	C	11: 80,286,354 (GRCm39)	M489T	unknown	Het
Zfp462	A	G	4: 55,009,380 (GRCm39)	T449A	probably benign	Het
Zfp956	C	A	6: 47,932,781 (GRCm39)	Q19K	probably benign	Het
Zkscan8	A	T	13: 21,709,443 (GRCm39)	W152R	probably damaging	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
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
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'- TTGCCAAGCTCAGTAACGG -3'
(R):5'- AGAACAATGAGTGAGCGCTC -3'

Sequencing Primer
(F):5'- CCAAGCTCAGTAACGGGGTCAG -3'
(R):5'- GCTCATGCGTTCAGTCTTAGAG -3'

Posted On

2019-05-15