Mutagenetix > Incidental Mutation

Incidental Mutation 'R0060:Suv39h2'

17311

Institutional Source

Beutler Lab

Gene Symbol

Suv39h2

Ensembl Gene

ENSMUSG00000026646

Gene Name

suppressor of variegation 3-9 2

Synonyms

4930507K23Rik, D2Ertd544e, Suv39h histone methyltransferase, KMT1B

MMRRC Submission

038353-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0060 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

3456852-3476068 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3465953 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 134 (Y134C)

Ref Sequence

ENSEMBL: ENSMUSP00000027956 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027956] [ENSMUST00000060618] [ENSMUST00000061852] [ENSMUST00000100463] [ENSMUST00000115066] [ENSMUST00000127540]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000027956
AA Change: Y134C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000027956
Gene: ENSMUSG00000026646
AA Change: Y134C

Domain	Start	End	E-Value	Type
low complexity region	2	47	N/A	INTRINSIC
CHROMO	117	169	2.44e-11	SMART
Pfam:Pre-SET	212	309	4.4e-18	PFAM
SET	317	446	4.05e-41	SMART
PostSET	461	477	7.05e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000060618

SMART Domains

Protein: ENSMUSP00000054169
Gene: ENSMUSG00000026646

Domain	Start	End	E-Value	Type
low complexity region	2	47	N/A	INTRINSIC
SET	70	226	6.61e-23	SMART
PostSET	241	257	7.05e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000061852

SMART Domains

Protein: ENSMUSP00000054300
Gene: ENSMUSG00000026648

Domain	Start	End	E-Value	Type
Lactamase_B	10	193	7.78e0	SMART
Pfam:DRMBL	239	345	1.6e-22	PFAM
low complexity region	383	400	N/A	INTRINSIC
low complexity region	463	477	N/A	INTRINSIC
low complexity region	593	601	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000100458
AA Change: Y31C

SMART Domains

Protein: ENSMUSP00000098026
Gene: ENSMUSG00000026646
AA Change: Y31C

Domain	Start	End	E-Value	Type
CHROMO	6	67	2e-7	SMART
Pfam:Pre-SET	110	207	1.3e-17	PFAM
SET	215	344	4.05e-41	SMART
PostSET	359	375	7.05e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000100463

SMART Domains

Protein: ENSMUSP00000098031
Gene: ENSMUSG00000026648

Domain	Start	End	E-Value	Type
Lactamase_B	10	193	7.78e0	SMART
Pfam:DRMBL	239	345	6.5e-23	PFAM
low complexity region	476	484	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115066

SMART Domains

Protein: ENSMUSP00000110718
Gene: ENSMUSG00000026648

Domain	Start	End	E-Value	Type
Blast:Lactamase_B	25	70	1e-19	BLAST
Pfam:DRMBL	109	215	1.1e-22	PFAM
low complexity region	253	270	N/A	INTRINSIC
low complexity region	333	347	N/A	INTRINSIC
low complexity region	463	471	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000127540
AA Change: I85M

SMART Domains

Protein: ENSMUSP00000125485
Gene: ENSMUSG00000026646
AA Change: I85M

Domain	Start	End	E-Value	Type
low complexity region	2	47	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149932

Meta Mutation Damage Score

0.6580

Coding Region Coverage

1x: 90.4%
3x: 88.3%
10x: 83.8%
20x: 78.1%

Validation Efficiency

94% (74/79)

MGI Phenotype

PHENOTYPE: Less than 5% of mice either heterozygous or homozygous for a reporter/null allele develop late-onset B cell lymphomas. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	A	C	11: 58,313,008 (GRCm39)		probably benign	Het
4930432E11Rik	A	G	7: 29,273,595 (GRCm39)		noncoding transcript	Het
A630091E08Rik	A	G	7: 98,192,875 (GRCm39)		noncoding transcript	Het
Abca8a	T	C	11: 109,961,306 (GRCm39)	T539A	probably damaging	Het
Adam34	A	T	8: 44,128,920 (GRCm39)		probably benign	Het
Ankrd60	A	T	2: 173,414,406 (GRCm39)	M1K	probably null	Het
Cald1	T	C	6: 34,692,394 (GRCm39)		probably benign	Het
Capn7	T	C	14: 31,087,561 (GRCm39)		probably benign	Het
Cd109	G	A	9: 78,610,389 (GRCm39)	E1145K	probably damaging	Het
Celsr1	A	T	15: 85,806,399 (GRCm39)	V2353D	probably damaging	Het
Cep135	A	T	5: 76,769,197 (GRCm39)	I616F	probably benign	Het
Cep162	T	A	9: 87,119,878 (GRCm39)		probably benign	Het
Cep350	C	T	1: 155,804,372 (GRCm39)	D904N	probably damaging	Het
Cep85	T	C	4: 133,894,611 (GRCm39)	D65G	probably damaging	Het
Cfdp1	T	C	8: 112,566,986 (GRCm39)		probably benign	Het
Chl1	T	A	6: 103,688,019 (GRCm39)		probably benign	Het
Colec10	G	A	15: 54,302,542 (GRCm39)		probably benign	Het
Crxos	A	G	7: 15,632,448 (GRCm39)	T40A	possibly damaging	Het
Dnhd1	A	G	7: 105,317,721 (GRCm39)	D472G	probably damaging	Het
Dpp6	C	A	5: 27,803,817 (GRCm39)	N254K	probably damaging	Het
Eps8l3	T	C	3: 107,786,857 (GRCm39)	L11S	probably damaging	Het
Flad1	G	A	3: 89,309,552 (GRCm39)	R515*	probably null	Het
Fzd5	T	C	1: 64,774,835 (GRCm39)	T309A	probably benign	Het
Gm19685	T	C	17: 61,075,418 (GRCm39)			Het
Gsdme	A	G	6: 50,198,009 (GRCm39)	I317T	possibly damaging	Het
H2bc1	A	T	13: 24,117,928 (GRCm39)	I71N	possibly damaging	Het
Incenp	A	G	19: 9,862,823 (GRCm39)		probably benign	Het
Itgad	T	C	7: 127,802,158 (GRCm39)	S979P	probably damaging	Het
Kat2b	T	C	17: 53,961,571 (GRCm39)	V557A	probably damaging	Het
Lamc1	A	T	1: 153,117,614 (GRCm39)		probably benign	Het
Lgi4	G	A	7: 30,762,996 (GRCm39)	G157D	probably damaging	Het
Mga	T	C	2: 119,791,442 (GRCm39)		probably null	Het
Nubpl	T	C	12: 52,357,470 (GRCm39)		probably benign	Het
Or2b4	T	C	17: 38,116,891 (GRCm39)	L285P	probably damaging	Het
Or5be3	T	C	2: 86,864,118 (GRCm39)	Y149C	probably damaging	Het
Or8c20	C	T	9: 38,260,808 (GRCm39)	S143F	probably benign	Het
Peak1	A	T	9: 56,135,107 (GRCm39)	I78K	probably damaging	Het
Prune2	T	A	19: 16,981,097 (GRCm39)	F85I	probably damaging	Het
Rbm11	G	T	16: 75,395,667 (GRCm39)	D113Y	probably damaging	Het
Rif1	C	T	2: 52,001,129 (GRCm39)	R1528C	probably damaging	Het
Sema4d	A	G	13: 51,859,293 (GRCm39)		probably benign	Het
Slc30a4	T	A	2: 122,527,104 (GRCm39)	T381S	probably benign	Het
Slf2	G	T	19: 44,936,443 (GRCm39)	G696V	probably damaging	Het
Tmem273	C	A	14: 32,528,726 (GRCm39)		probably benign	Het
Tmem89	T	A	9: 108,744,485 (GRCm39)	V126D	probably damaging	Het
Trf	T	C	9: 103,098,121 (GRCm39)	T46A	probably benign	Het
Trmt6	C	T	2: 132,648,689 (GRCm39)	R415Q	possibly damaging	Het
Trp53bp1	T	C	2: 121,035,006 (GRCm39)	K1625E	probably damaging	Het
Usp6nl	T	A	2: 6,445,701 (GRCm39)	D559E	probably benign	Het
Wdr75	A	G	1: 45,855,777 (GRCm39)	D476G	probably benign	Het
Wrap53	A	C	11: 69,454,256 (GRCm39)	L261V	possibly damaging	Het
Zcchc4	T	A	5: 52,964,420 (GRCm39)	I292N	possibly damaging	Het

Other mutations in Suv39h2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01380:Suv39h2	APN	2	3,465,296 (GRCm39)	splice site	probably benign
IGL03408:Suv39h2	APN	2	3,460,913 (GRCm39)	missense	probably damaging	1.00
R0060:Suv39h2	UTSW	2	3,465,953 (GRCm39)	missense	probably damaging	1.00
R0511:Suv39h2	UTSW	2	3,473,616 (GRCm39)	missense	probably damaging	0.99
R1892:Suv39h2	UTSW	2	3,460,805 (GRCm39)	missense	probably damaging	1.00
R1919:Suv39h2	UTSW	2	3,465,353 (GRCm39)	missense	probably damaging	1.00
R3888:Suv39h2	UTSW	2	3,465,845 (GRCm39)	missense	probably benign	0.09
R5583:Suv39h2	UTSW	2	3,475,890 (GRCm39)	unclassified	probably benign
R6770:Suv39h2	UTSW	2	3,473,588 (GRCm39)	missense	possibly damaging	0.52
R6801:Suv39h2	UTSW	2	3,465,458 (GRCm39)	missense	probably benign	0.16
R7607:Suv39h2	UTSW	2	3,475,866 (GRCm39)	missense	unknown
R7914:Suv39h2	UTSW	2	3,465,453 (GRCm39)	nonsense	probably null
R9557:Suv39h2	UTSW	2	3,475,451 (GRCm39)	missense
R9781:Suv39h2	UTSW	2	3,463,631 (GRCm39)	missense	probably benign	0.01
X0062:Suv39h2	UTSW	2	3,465,822 (GRCm39)	missense	probably benign

Posted On

2013-01-20