Mutagenetix > Incidental Mutation

Incidental Mutation 'R1797:Kmt5b'

202428

Institutional Source

Beutler Lab

Gene Symbol

Kmt5b

Ensembl Gene

ENSMUSG00000045098

Gene Name

lysine methyltransferase 5B

Synonyms

Suv420h1, C630029K18Rik, Suv4-20h1

MMRRC Submission

039827-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1797 (G1)

Quality Score

214

Status

Not validated

Chromosome

Chromosomal Location

3817421-3868303 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 3864833 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 632 (E632D)

Ref Sequence

ENSEMBL: ENSMUSP00000109606 (fasta)

Gene Model

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

AlphaFold

Q3U8K7

PDB Structure

A novel route to product specificity in the Suv4-20 family of histone H4K20 methyltransferases [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000113972
AA Change: E632D

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000109605
Gene: ENSMUSG00000045098
AA Change: E632D

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: E632D

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000109606
Gene: ENSMUSG00000045098
AA Change: E632D

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: E609D

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000109607
Gene: ENSMUSG00000045098
AA Change: E609D

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: E609D

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000109610
Gene: ENSMUSG00000045098
AA Change: E609D

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

noncoding transcript
Transcript: ENSMUST00000118575

Predicted Effect

probably benign
Transcript: ENSMUST00000176262
AA Change: E609D

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000135563
Gene: ENSMUSG00000045098
AA Change: E609D

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: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.6%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	T	C	11: 72,089,285 (GRCm39)	K200E	possibly damaging	Het
Abcc2	A	G	19: 43,803,225 (GRCm39)	E687G	possibly damaging	Het
Abcc2	A	T	19: 43,822,426 (GRCm39)	Q1421H	probably damaging	Het
Abcg3	C	T	5: 105,087,030 (GRCm39)	S534N	possibly damaging	Het
Acp1	A	G	12: 30,946,113 (GRCm39)		probably null	Het
Adam12	C	A	7: 133,569,590 (GRCm39)	R295L	probably benign	Het
Albfm1	A	T	5: 90,727,460 (GRCm39)	E359D	probably damaging	Het
Alg1	C	A	16: 5,057,007 (GRCm39)	H213Q	probably benign	Het
Ap4b1	T	A	3: 103,726,149 (GRCm39)	W410R	possibly damaging	Het
As3mt	A	G	19: 46,713,373 (GRCm39)	T307A	possibly damaging	Het
Cdc14a	T	C	3: 116,115,843 (GRCm39)	I289V	probably damaging	Het
Cdk17	A	G	10: 93,044,114 (GRCm39)	I18V	possibly damaging	Het
Cep131	C	T	11: 119,964,562 (GRCm39)		probably null	Het
Clca3a2	A	G	3: 144,503,398 (GRCm39)	Y851H	probably benign	Het
Cnih2	T	C	19: 5,144,314 (GRCm39)	K66E	probably benign	Het
Cpsf3	T	A	12: 21,356,851 (GRCm39)	N491K	probably benign	Het
Cux1	C	T	5: 136,304,169 (GRCm39)	E1253K	probably benign	Het
Dcc	A	C	18: 71,500,232 (GRCm39)	L1005R	probably damaging	Het
Ddx19b	A	T	8: 111,739,439 (GRCm39)	M200K	probably damaging	Het
Ech1	A	G	7: 28,531,288 (GRCm39)	Y292C	probably damaging	Het
Edc4	G	T	8: 106,617,717 (GRCm39)	A1121S	probably benign	Het
Eml6	T	A	11: 29,832,041 (GRCm39)	I210F	probably benign	Het
Fam135b	T	C	15: 71,324,290 (GRCm39)	T1226A	probably benign	Het
Flg2	C	T	3: 93,108,283 (GRCm39)	R104C	probably damaging	Het
Frzb	T	C	2: 80,276,872 (GRCm39)	I105V	possibly damaging	Het
Gli3	A	G	13: 15,888,097 (GRCm39)	D504G	probably damaging	Het
Gm42669	A	T	5: 107,655,683 (GRCm39)	K1161*	probably null	Het
Gm6665	T	C	18: 31,953,186 (GRCm39)	E63G	possibly damaging	Het
Gm9923	T	C	10: 72,145,593 (GRCm39)	V148A	probably benign	Het
Hoxc5	T	C	15: 102,922,866 (GRCm39)	I118T	probably benign	Het
Hsp90b1	A	G	10: 86,537,609 (GRCm39)	V232A	possibly damaging	Het
Impdh1	T	A	6: 29,207,168 (GRCm39)	I59F	probably damaging	Het
Iqch	G	A	9: 63,495,659 (GRCm39)	P111S	possibly damaging	Het
Itih1	G	T	14: 30,651,856 (GRCm39)	Q829K	probably damaging	Het
Kcnh2	C	T	5: 24,527,670 (GRCm39)	R894H	probably damaging	Het
L2hgdh	C	T	12: 69,746,340 (GRCm39)	M373I	probably benign	Het
Map3k4	C	T	17: 12,482,906 (GRCm39)	E604K	probably benign	Het
Mok	T	A	12: 110,774,479 (GRCm39)	Y420F	probably benign	Het
Nedd1	G	A	10: 92,534,601 (GRCm39)	T303I	possibly damaging	Het
Nipal4	T	A	11: 46,042,160 (GRCm39)	M174L	probably benign	Het
Or6c213	A	C	10: 129,574,578 (GRCm39)	I69M	probably benign	Het
Pag1	T	A	3: 9,758,946 (GRCm39)	T391S	probably benign	Het
Palm3	A	G	8: 84,755,432 (GRCm39)	R315G	probably benign	Het
Patj	C	T	4: 98,575,675 (GRCm39)	R1177W	probably damaging	Het
Pbld2	G	A	10: 62,910,903 (GRCm39)		probably null	Het
Phldb1	A	T	9: 44,627,842 (GRCm39)	M81K	probably damaging	Het
Pkn2	A	G	3: 142,515,289 (GRCm39)	F682L	probably damaging	Het
Plce1	T	C	19: 38,747,392 (GRCm39)		probably null	Het
Plekha8	T	A	6: 54,617,959 (GRCm39)	V518E	probably damaging	Het
Ppp1r3a	T	A	6: 14,717,981 (GRCm39)	M978L	probably benign	Het
Ppp4r4	T	A	12: 103,564,410 (GRCm39)	C592S	possibly damaging	Het
Prdx6b	T	A	2: 80,123,546 (GRCm39)	D118E	possibly damaging	Het
Ptprg	T	C	14: 12,199,743 (GRCm38)	V52A	probably damaging	Het
Rab27b	A	G	18: 70,122,617 (GRCm39)	M114T	probably damaging	Het
Ralgps1	A	G	2: 33,230,723 (GRCm39)		probably null	Het
Rasa3	G	A	8: 13,632,372 (GRCm39)	P506L	probably benign	Het
Rps6kb1	G	A	11: 86,393,634 (GRCm39)	R499*	probably null	Het
S1pr4	A	G	10: 81,335,024 (GRCm39)	M150T	probably damaging	Het
Scube2	T	C	7: 109,430,882 (GRCm39)	D439G	probably damaging	Het
Serpina1e	T	C	12: 103,917,150 (GRCm39)	K173R	probably benign	Het
Serpina3m	T	A	12: 104,355,774 (GRCm39)	I147N	probably damaging	Het
Sh3rf3	G	T	10: 58,922,489 (GRCm39)	G522*	probably null	Het
Smad1	A	T	8: 80,070,473 (GRCm39)	V355E	probably damaging	Het
Srsf11	A	G	3: 157,725,065 (GRCm39)	V211A	possibly damaging	Het
Stard9	C	A	2: 120,504,117 (GRCm39)	S221R	probably damaging	Het
Stt3a	C	T	9: 36,654,711 (GRCm39)		probably null	Het
Syne2	T	C	12: 76,010,557 (GRCm39)	V2488A	probably benign	Het
Tbc1d23	T	C	16: 56,993,463 (GRCm39)	T568A	possibly damaging	Het
Tnn	A	C	1: 159,968,258 (GRCm39)	V378G	probably damaging	Het
Trim50	T	C	5: 135,382,355 (GRCm39)	V69A	possibly damaging	Het
Ttll10	A	T	4: 156,132,024 (GRCm39)	D19E	probably damaging	Het
Ushbp1	G	A	8: 71,841,567 (GRCm39)	R421C	probably damaging	Het
Vmn2r2	T	C	3: 64,042,128 (GRCm39)	T196A	probably benign	Het
Wdr64	G	A	1: 175,639,585 (GRCm39)	S1028N	probably damaging	Het
Wwtr1	T	C	3: 57,369,996 (GRCm39)	Y373C	probably damaging	Het
Zeb1	A	T	18: 5,766,298 (GRCm39)	K216*	probably null	Het
Zfp39	T	C	11: 58,791,486 (GRCm39)	D67G	probably damaging	Het
Zfp40	A	G	17: 23,394,514 (GRCm39)	I691T	possibly damaging	Het
Zfp532	T	C	18: 65,758,215 (GRCm39)	V716A	probably benign	Het
Zfp616	T	A	11: 73,976,105 (GRCm39)	C791*	probably null	Het
Zfp932	G	A	5: 110,144,489 (GRCm39)		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
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
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'- TACTGGAACCTTGCCCAGAC -3'
(R):5'- ATCAGCTGTGCATCGTACC -3'

Sequencing Primer
(F):5'- AACCTTGCCCAGACAGTGGC -3'
(R):5'- CTGTGCATCGTACCTGGTGAC -3'

Posted On

2014-06-23