Mutagenetix > Incidental Mutation

Incidental Mutation 'R3888:Suv39h2'

312846

Institutional Source

Beutler Lab

Gene Symbol

Suv39h2

Ensembl Gene

ENSMUSG00000026646

Gene Name

suppressor of variegation 3-9 2

Synonyms

Suv39h histone methyltransferase, 4930507K23Rik, D2Ertd544e, KMT1B

MMRRC Submission

040800-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3888 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3455815-3475031 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 3464808 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 170 (T170I)

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 benign
Transcript: ENSMUST00000027956
AA Change: T170I

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000027956
Gene: ENSMUSG00000026646
AA Change: T170I

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: T67I

SMART Domains

Protein: ENSMUSP00000098026
Gene: ENSMUSG00000026646
AA Change: T67I

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

probably benign
Transcript: ENSMUST00000127540

SMART Domains

Protein: ENSMUSP00000125485
Gene: ENSMUSG00000026646

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149932

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.0%

Validation Efficiency

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933407L21Rik	T	A	1: 85,940,551		probably null	Het
Acbd6	A	G	1: 155,624,897	D201G	probably damaging	Het
Adam17	G	A	12: 21,325,587	R744C	probably damaging	Het
Adss	A	G	1: 177,767,769	Y402H	probably damaging	Het
Ano3	T	A	2: 110,885,000	K31I	probably damaging	Het
B930094E09Rik	G	A	18: 31,609,689	S59N	unknown	Het
Cmya5	T	G	13: 93,093,656	R1641S	probably benign	Het
Cps1	C	A	1: 67,165,500	T493K	possibly damaging	Het
Dmxl1	T	A	18: 49,878,259	M1161K	probably damaging	Het
Etl4	C	T	2: 20,529,961	Q76*	probably null	Het
Fn1	T	C	1: 71,640,306	Y511C	probably damaging	Het
Foxd2	T	C	4: 114,908,286	H179R	unknown	Het
Frem1	T	C	4: 82,913,607	R1991G	probably benign	Het
Gimap7	G	A	6: 48,723,845	E122K	probably benign	Het
Hps3	A	G	3: 20,003,223		probably null	Het
Kctd2	A	T	11: 115,427,519	K209N	probably damaging	Het
Lcor	T	A	19: 41,558,356	S126R	probably damaging	Het
Lct	T	C	1: 128,304,226	M629V	probably damaging	Het
Lrp5	G	A	19: 3,612,330	R173C	probably damaging	Het
Muc5ac	T	C	7: 141,791,224	V144A	possibly damaging	Het
Mypn	T	C	10: 63,192,510	Y258C	probably damaging	Het
Ntf3	T	C	6: 126,102,442	M21V	probably benign	Het
Olfr1243	T	A	2: 89,527,732	H226L	possibly damaging	Het
Olfr1447	A	T	19: 12,901,133	C216S	probably benign	Het
Olfr802	G	A	10: 129,682,218	H174Y	possibly damaging	Het
Olfr802	A	T	10: 129,682,219	D173E	probably benign	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Rbm45	A	G	2: 76,375,424	S207G	probably benign	Het
Robo3	G	A	9: 37,422,181	Q723*	probably null	Het
Rreb1	G	T	13: 37,893,965	R51L	probably damaging	Het
Slc12a6	T	A	2: 112,267,030	L70Q	possibly damaging	Het
Slc15a2	A	G	16: 36,782,304	F65S	probably damaging	Het
Slitrk5	T	A	14: 111,679,797	C284*	probably null	Het
Smim17	G	T	7: 6,429,280	G74C	probably damaging	Het
Snapc4	G	A	2: 26,365,498	Q1005*	probably null	Het
Thrb	A	G	14: 18,033,551	K424R	probably damaging	Het
Tm4sf4	C	T	3: 57,437,745	Q191*	probably null	Het
Trak1	G	T	9: 121,442,797		probably null	Het
Ttn	A	G	2: 76,710,274	S25796P	probably damaging	Het
Ugp2	T	C	11: 21,353,366	R80G	probably benign	Het
Utp15	C	T	13: 98,259,166	V103I	probably benign	Het
Wdr3	A	T	3: 100,153,906	S249T	probably benign	Het
Zeb1	T	A	18: 5,748,743	D86E	probably damaging	Het

Other mutations in Suv39h2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01380:Suv39h2	APN	2	3464259	splice site	probably benign
IGL03408:Suv39h2	APN	2	3459876	missense	probably damaging	1.00
R0060:Suv39h2	UTSW	2	3464916	missense	probably damaging	1.00
R0060:Suv39h2	UTSW	2	3464916	missense	probably damaging	1.00
R0511:Suv39h2	UTSW	2	3472579	missense	probably damaging	0.99
R1892:Suv39h2	UTSW	2	3459768	missense	probably damaging	1.00
R1919:Suv39h2	UTSW	2	3464316	missense	probably damaging	1.00
R5583:Suv39h2	UTSW	2	3474853	unclassified	probably benign
R6770:Suv39h2	UTSW	2	3472551	missense	possibly damaging	0.52
R6801:Suv39h2	UTSW	2	3464421	missense	probably benign	0.16
R7607:Suv39h2	UTSW	2	3474829	missense	unknown
R7914:Suv39h2	UTSW	2	3464416	nonsense	probably null
X0062:Suv39h2	UTSW	2	3464785	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AAGTCTAAAGGTGGGCCCTC -3'
(R):5'- GTGACTCTGTGCAGTTTGAATTAAG -3'

Sequencing Primer
(F):5'- CTCCAAGTCAACAGTGTTTTCAAC -3'
(R):5'- TGCAGTTTGAATTAAGAGAAGTGCC -3'

Posted On

2015-04-30