Incidental Mutation 'R7914:Suv39h2'
| ID |
647943 |
| 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 |
045962-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7914 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
3456852-3476068 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 3465453 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 301
(R301*)
|
| 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 null
Transcript: ENSMUST00000027956
AA Change: R301*
|
| SMART Domains |
Protein: ENSMUSP00000027956
Gene: ENSMUSG00000026646
AA Change: R301*
| 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 |
probably null
Transcript: ENSMUST00000100458
AA Change: R198*
|
| SMART Domains |
Protein: ENSMUSP00000098026
Gene: ENSMUSG00000026646
AA Change: R198*
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (39/39) |
| 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 |
|---|
| 1700017N19Rik |
G |
T |
10: 100,428,538 (GRCm39) |
V12F |
probably benign |
Het |
| Adnp2 |
T |
A |
18: 80,174,056 (GRCm39) |
R118W |
probably damaging |
Het |
| Apaf1 |
G |
A |
10: 90,896,095 (GRCm39) |
R337C |
probably damaging |
Het |
| Arhgef40 |
T |
C |
14: 52,225,032 (GRCm39) |
L59P |
probably damaging |
Het |
| B020011L13Rik |
A |
G |
1: 117,729,162 (GRCm39) |
E223G |
probably benign |
Het |
| Bcl6 |
T |
C |
16: 23,788,761 (GRCm39) |
R536G |
possibly damaging |
Het |
| Bltp1 |
A |
T |
3: 37,000,432 (GRCm39) |
N1204Y |
probably benign |
Het |
| Catsperg1 |
T |
C |
7: 28,894,851 (GRCm39) |
E582G |
probably benign |
Het |
| Ccdc136 |
A |
G |
6: 29,419,306 (GRCm39) |
N942S |
probably damaging |
Het |
| Ccdc81 |
A |
C |
7: 89,524,988 (GRCm39) |
M531R |
possibly damaging |
Het |
| Cep78 |
T |
C |
19: 15,953,672 (GRCm39) |
E283G |
probably benign |
Het |
| Cnot1 |
ACG |
A |
8: 96,472,275 (GRCm39) |
|
probably null |
Het |
| E230025N22Rik |
C |
A |
18: 36,828,605 (GRCm39) |
R24S |
possibly damaging |
Het |
| Epb41l1 |
T |
A |
2: 156,364,128 (GRCm39) |
M879K |
probably benign |
Het |
| Fam135a |
T |
C |
1: 24,065,760 (GRCm39) |
Y1226C |
probably damaging |
Het |
| Fbxo11 |
T |
C |
17: 88,320,031 (GRCm39) |
E151G |
|
Het |
| Herc6 |
A |
G |
6: 57,584,106 (GRCm39) |
T322A |
probably benign |
Het |
| Inka1 |
T |
C |
9: 107,862,761 (GRCm39) |
|
probably benign |
Het |
| Kalrn |
T |
A |
16: 33,849,122 (GRCm39) |
Q2110L |
probably benign |
Het |
| Kti12 |
A |
C |
4: 108,705,443 (GRCm39) |
E119A |
probably benign |
Het |
| Kti12 |
G |
T |
4: 108,705,444 (GRCm39) |
E119D |
probably benign |
Het |
| Lrrc19 |
T |
A |
4: 94,526,537 (GRCm39) |
H340L |
probably damaging |
Het |
| Mkks |
A |
T |
2: 136,722,876 (GRCm39) |
F94I |
probably damaging |
Het |
| Pcdhga3 |
T |
A |
18: 37,808,013 (GRCm39) |
F155L |
probably benign |
Het |
| Pdlim1 |
T |
A |
19: 40,240,445 (GRCm39) |
I53F |
probably damaging |
Het |
| Pttg1 |
A |
T |
11: 43,316,421 (GRCm39) |
L26Q |
probably benign |
Het |
| Rasa4 |
T |
A |
5: 136,130,510 (GRCm39) |
|
probably benign |
Het |
| Rsbn1l |
A |
G |
5: 21,110,896 (GRCm39) |
S481P |
probably damaging |
Het |
| Sae1 |
C |
A |
7: 16,121,648 (GRCm39) |
G10C |
unknown |
Het |
| Samd15 |
T |
C |
12: 87,248,559 (GRCm39) |
S415P |
probably damaging |
Het |
| Scn7a |
T |
A |
2: 66,530,294 (GRCm39) |
I684F |
probably damaging |
Het |
| Sec23b |
T |
A |
2: 144,406,565 (GRCm39) |
M120K |
probably benign |
Het |
| Slc20a1 |
G |
A |
2: 129,049,757 (GRCm39) |
D340N |
probably benign |
Het |
| Slf2 |
T |
A |
19: 44,947,499 (GRCm39) |
M821K |
possibly damaging |
Het |
| Tgfbi |
A |
G |
13: 56,777,502 (GRCm39) |
T329A |
probably damaging |
Het |
| Tmprss12 |
T |
C |
15: 100,183,111 (GRCm39) |
F151S |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,747,525 (GRCm39) |
D4508G |
probably benign |
Het |
| Tyk2 |
C |
A |
9: 21,032,851 (GRCm39) |
C304F |
probably benign |
Het |
| Vmn1r121 |
T |
A |
7: 20,831,589 (GRCm39) |
T284S |
probably benign |
Het |
| Vmn2r117 |
A |
G |
17: 23,679,100 (GRCm39) |
I708T |
possibly damaging |
Het |
| Vmn2r2 |
A |
T |
3: 64,041,526 (GRCm39) |
D396E |
probably benign |
Het |
| Zfc3h1 |
A |
G |
10: 115,239,062 (GRCm39) |
|
probably null |
Het |
| Zic4 |
T |
G |
9: 91,266,181 (GRCm39) |
V275G |
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 |
|
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 |
|
|
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'- GGATTTCTACATATCCGCAAATGAC -3'
(R):5'- TAACGAGTACAGGCCAGCTC -3'
Sequencing Primer
(F):5'- TCTACATATCCGCAAATGACAACATC -3'
(R):5'- TCCCGGGATCAGCATAAACAGTG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation