Incidental Mutation 'R3888:Suv39h2'
| ID |
312846 |
| 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 |
040800-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3888 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
3456852-3476068 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 3465845 bp (GRCm39)
|
| 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: 85,868,273 (GRCm39) |
|
probably null |
Het |
| Acbd6 |
A |
G |
1: 155,500,643 (GRCm39) |
D201G |
probably damaging |
Het |
| Adam17 |
G |
A |
12: 21,375,588 (GRCm39) |
R744C |
probably damaging |
Het |
| Adss2 |
A |
G |
1: 177,595,335 (GRCm39) |
Y402H |
probably damaging |
Het |
| Ano3 |
T |
A |
2: 110,715,345 (GRCm39) |
K31I |
probably damaging |
Het |
| B930094E09Rik |
G |
A |
18: 31,742,742 (GRCm39) |
S59N |
unknown |
Het |
| Cmya5 |
T |
G |
13: 93,230,164 (GRCm39) |
R1641S |
probably benign |
Het |
| Cps1 |
C |
A |
1: 67,204,659 (GRCm39) |
T493K |
possibly damaging |
Het |
| Dmxl1 |
T |
A |
18: 50,011,326 (GRCm39) |
M1161K |
probably damaging |
Het |
| Etl4 |
C |
T |
2: 20,534,772 (GRCm39) |
Q76* |
probably null |
Het |
| Fn1 |
T |
C |
1: 71,679,465 (GRCm39) |
Y511C |
probably damaging |
Het |
| Foxd2 |
T |
C |
4: 114,765,483 (GRCm39) |
H179R |
unknown |
Het |
| Frem1 |
T |
C |
4: 82,831,844 (GRCm39) |
R1991G |
probably benign |
Het |
| Gimap7 |
G |
A |
6: 48,700,779 (GRCm39) |
E122K |
probably benign |
Het |
| Hps3 |
A |
G |
3: 20,057,387 (GRCm39) |
|
probably null |
Het |
| Kctd2 |
A |
T |
11: 115,318,345 (GRCm39) |
K209N |
probably damaging |
Het |
| Lcor |
T |
A |
19: 41,546,795 (GRCm39) |
S126R |
probably damaging |
Het |
| Lct |
T |
C |
1: 128,231,963 (GRCm39) |
M629V |
probably damaging |
Het |
| Lrp5 |
G |
A |
19: 3,662,330 (GRCm39) |
R173C |
probably damaging |
Het |
| Muc5ac |
T |
C |
7: 141,344,961 (GRCm39) |
V144A |
possibly damaging |
Het |
| Mypn |
T |
C |
10: 63,028,289 (GRCm39) |
Y258C |
probably damaging |
Het |
| Ntf3 |
T |
C |
6: 126,079,405 (GRCm39) |
M21V |
probably benign |
Het |
| Or4a71 |
T |
A |
2: 89,358,076 (GRCm39) |
H226L |
possibly damaging |
Het |
| Or5b97 |
A |
T |
19: 12,878,497 (GRCm39) |
C216S |
probably benign |
Het |
| Or6c1 |
A |
T |
10: 129,518,088 (GRCm39) |
D173E |
probably benign |
Het |
| Or6c1 |
G |
A |
10: 129,518,087 (GRCm39) |
H174Y |
possibly damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rbm45 |
A |
G |
2: 76,205,768 (GRCm39) |
S207G |
probably benign |
Het |
| Robo3 |
G |
A |
9: 37,333,477 (GRCm39) |
Q723* |
probably null |
Het |
| Rreb1 |
G |
T |
13: 38,077,941 (GRCm39) |
R51L |
probably damaging |
Het |
| Slc12a6 |
T |
A |
2: 112,097,375 (GRCm39) |
L70Q |
possibly damaging |
Het |
| Slc15a2 |
A |
G |
16: 36,602,666 (GRCm39) |
F65S |
probably damaging |
Het |
| Slitrk5 |
T |
A |
14: 111,917,229 (GRCm39) |
C284* |
probably null |
Het |
| Smim17 |
G |
T |
7: 6,432,279 (GRCm39) |
G74C |
probably damaging |
Het |
| Snapc4 |
G |
A |
2: 26,255,510 (GRCm39) |
Q1005* |
probably null |
Het |
| Thrb |
A |
G |
14: 18,033,551 (GRCm38) |
K424R |
probably damaging |
Het |
| Tm4sf4 |
C |
T |
3: 57,345,166 (GRCm39) |
Q191* |
probably null |
Het |
| Trak1 |
G |
T |
9: 121,271,863 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
G |
2: 76,540,618 (GRCm39) |
S25796P |
probably damaging |
Het |
| Ugp2 |
T |
C |
11: 21,303,366 (GRCm39) |
R80G |
probably benign |
Het |
| Utp15 |
C |
T |
13: 98,395,674 (GRCm39) |
V103I |
probably benign |
Het |
| Wdr3 |
A |
T |
3: 100,061,222 (GRCm39) |
S249T |
probably benign |
Het |
| Zeb1 |
T |
A |
18: 5,748,743 (GRCm39) |
D86E |
probably 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 |
|
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 |
|
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 |
|
|
| 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 |
Incidental Mutation