Incidental Mutation 'IGL03408:Suv39h2'
| ID |
421663 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Suv39h2
|
| Ensembl Gene |
ENSMUSG00000026646 |
| Gene Name |
suppressor of variegation 3-9 2 |
| Synonyms |
4930507K23Rik, D2Ertd544e, Suv39h histone methyltransferase, KMT1B |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03408
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
3456852-3476068 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 3460913 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 183
(N183S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054169
(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: N403S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027956
Gene: ENSMUSG00000026646
AA Change: N403S
| 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 damaging
Transcript: ENSMUST00000060618
AA Change: N183S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000054169
Gene: ENSMUSG00000026646
AA Change: N183S
| 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: N300S
|
| SMART Domains |
Protein: ENSMUSP00000098026
Gene: ENSMUSG00000026646
AA Change: N300S
| 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 |
probably benign
Transcript: ENSMUST00000129657
|
| SMART Domains |
Protein: ENSMUSP00000116883
Gene: ENSMUSG00000026648
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DRMBL
|
1 |
96 |
1.6e-21 |
PFAM |
|
| Coding Region Coverage |
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
T |
1: 71,303,954 (GRCm39) |
F2108I |
probably damaging |
Het |
| Aco2 |
T |
C |
15: 81,783,424 (GRCm39) |
|
probably null |
Het |
| Ccdc186 |
T |
C |
19: 56,787,163 (GRCm39) |
K602E |
probably benign |
Het |
| Ccdc85a |
T |
A |
11: 28,526,528 (GRCm39) |
H360L |
probably damaging |
Het |
| Cited2 |
A |
G |
10: 17,600,148 (GRCm39) |
H152R |
possibly damaging |
Het |
| Cluh |
C |
A |
11: 74,556,779 (GRCm39) |
R940S |
probably benign |
Het |
| Corin |
T |
A |
5: 72,500,304 (GRCm39) |
Y432F |
probably benign |
Het |
| Creb1 |
A |
G |
1: 64,615,491 (GRCm39) |
|
probably null |
Het |
| Dhx15 |
A |
T |
5: 52,317,654 (GRCm39) |
D568E |
probably damaging |
Het |
| Efcab3 |
T |
A |
11: 104,601,447 (GRCm39) |
S253R |
probably benign |
Het |
| Esam |
G |
T |
9: 37,445,949 (GRCm39) |
R162S |
possibly damaging |
Het |
| Fat3 |
T |
A |
9: 15,909,253 (GRCm39) |
K2250* |
probably null |
Het |
| Fbxl17 |
G |
A |
17: 63,387,541 (GRCm39) |
R133* |
probably null |
Het |
| Gzmc |
C |
T |
14: 56,471,473 (GRCm39) |
G23R |
probably damaging |
Het |
| Idh3a |
A |
G |
9: 54,504,206 (GRCm39) |
N189D |
probably benign |
Het |
| Il31ra |
A |
T |
13: 112,662,422 (GRCm39) |
D462E |
probably benign |
Het |
| Inava |
T |
C |
1: 136,142,143 (GRCm39) |
Y652C |
probably benign |
Het |
| Inpp5j |
G |
A |
11: 3,452,809 (GRCm39) |
A147V |
possibly damaging |
Het |
| Kalrn |
G |
A |
16: 34,134,546 (GRCm39) |
A412V |
probably damaging |
Het |
| Lrp1b |
A |
G |
2: 40,748,594 (GRCm39) |
V2968A |
probably damaging |
Het |
| Morc1 |
G |
A |
16: 48,262,775 (GRCm39) |
G42R |
probably damaging |
Het |
| Notch4 |
T |
C |
17: 34,784,542 (GRCm39) |
L85P |
probably benign |
Het |
| Or4c52 |
G |
A |
2: 89,845,915 (GRCm39) |
V214M |
probably benign |
Het |
| Or5p73 |
A |
T |
7: 108,064,554 (GRCm39) |
N8Y |
probably damaging |
Het |
| Parp4 |
T |
A |
14: 56,839,865 (GRCm39) |
H524Q |
probably damaging |
Het |
| Pole |
T |
C |
5: 110,442,426 (GRCm39) |
F285L |
probably damaging |
Het |
| Scn9a |
A |
G |
2: 66,357,091 (GRCm39) |
M1070T |
probably benign |
Het |
| Slc25a32 |
G |
A |
15: 38,963,425 (GRCm39) |
A132V |
probably benign |
Het |
| Sult2a2 |
T |
G |
7: 13,472,154 (GRCm39) |
I117S |
probably damaging |
Het |
| Trhr2 |
G |
A |
8: 123,085,534 (GRCm39) |
T150M |
probably damaging |
Het |
| Usp34 |
T |
A |
11: 23,396,957 (GRCm39) |
F614I |
possibly damaging |
Het |
| Vmn2r17 |
A |
G |
5: 109,577,238 (GRCm39) |
|
probably benign |
Het |
| Wfdc2 |
T |
A |
2: 164,405,283 (GRCm39) |
C61* |
probably null |
Het |
| Zfp384 |
T |
C |
6: 125,012,676 (GRCm39) |
S377P |
probably damaging |
Het |
| Zfp945 |
A |
T |
17: 23,071,511 (GRCm39) |
Y150* |
probably null |
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 |
|
|
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 |
|
|
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 |
2016-08-02 |
Incidental Mutation