Incidental Mutation 'IGL02481:Nsd3'
| ID |
295199 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nsd3
|
| Ensembl Gene |
ENSMUSG00000054823 |
| Gene Name |
nuclear receptor binding SET domain protein 3 |
| Synonyms |
Whsc1l1, WHISTLE |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.361)
|
| Stock # |
IGL02481
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
26091617-26209694 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 26181143 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Threonine
at position 915
(P915T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117778
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084026]
[ENSMUST00000139966]
[ENSMUST00000142395]
[ENSMUST00000153597]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084026
AA Change: P915T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000081040
Gene: ENSMUSG00000054823
AA Change: P915T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
128 |
151 |
N/A |
INTRINSIC |
|
low complexity region
|
193 |
225 |
N/A |
INTRINSIC |
|
PWWP
|
278 |
341 |
1.6e-12 |
SMART |
|
low complexity region
|
680 |
701 |
N/A |
INTRINSIC |
|
PHD
|
713 |
756 |
4.49e-7 |
SMART |
|
PHD
|
761 |
808 |
5.82e-1 |
SMART |
|
PHD
|
809 |
861 |
3.06e0 |
SMART |
|
PHD
|
874 |
963 |
1e-4 |
SMART |
|
PWWP
|
968 |
1030 |
8.62e-18 |
SMART |
|
AWS
|
1103 |
1154 |
2.61e-17 |
SMART |
|
SET
|
1155 |
1278 |
2.17e-41 |
SMART |
|
PostSET
|
1279 |
1295 |
2.63e-3 |
SMART |
|
low complexity region
|
1309 |
1326 |
N/A |
INTRINSIC |
|
PHD
|
1332 |
1375 |
4.32e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139966
|
| SMART Domains |
Protein: ENSMUSP00000122096
Gene: ENSMUSG00000054823
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
128 |
151 |
N/A |
INTRINSIC |
|
low complexity region
|
193 |
225 |
N/A |
INTRINSIC |
|
PWWP
|
278 |
341 |
1.6e-12 |
SMART |
|
low complexity region
|
680 |
701 |
N/A |
INTRINSIC |
|
PHD
|
713 |
756 |
4.49e-7 |
SMART |
|
PHD
|
761 |
808 |
5.82e-1 |
SMART |
|
PHD
|
809 |
861 |
3.06e0 |
SMART |
|
PHD
|
874 |
914 |
5.24e-8 |
SMART |
|
PWWP
|
919 |
981 |
8.62e-18 |
SMART |
|
AWS
|
1054 |
1105 |
2.61e-17 |
SMART |
|
SET
|
1106 |
1229 |
2.17e-41 |
SMART |
|
PostSET
|
1230 |
1246 |
2.63e-3 |
SMART |
|
low complexity region
|
1260 |
1277 |
N/A |
INTRINSIC |
|
PHD
|
1283 |
1326 |
4.32e-9 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000142395
AA Change: P915T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117778
Gene: ENSMUSG00000054823
AA Change: P915T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
128 |
151 |
N/A |
INTRINSIC |
|
low complexity region
|
193 |
225 |
N/A |
INTRINSIC |
|
PWWP
|
278 |
341 |
1.6e-12 |
SMART |
|
low complexity region
|
680 |
701 |
N/A |
INTRINSIC |
|
PHD
|
713 |
756 |
4.49e-7 |
SMART |
|
PHD
|
761 |
808 |
5.82e-1 |
SMART |
|
PHD
|
809 |
861 |
3.06e0 |
SMART |
|
PHD
|
874 |
963 |
1e-4 |
SMART |
|
PWWP
|
968 |
1030 |
8.62e-18 |
SMART |
|
AWS
|
1103 |
1154 |
2.61e-17 |
SMART |
|
SET
|
1155 |
1278 |
2.17e-41 |
SMART |
|
PostSET
|
1279 |
1295 |
2.63e-3 |
SMART |
|
low complexity region
|
1309 |
1326 |
N/A |
INTRINSIC |
|
PHD
|
1332 |
1375 |
4.32e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153597
|
| SMART Domains |
Protein: ENSMUSP00000123028
Gene: ENSMUSG00000054823
| Domain | Start | End | E-Value | Type |
|---|
|
PWWP
|
17 |
79 |
8.62e-18 |
SMART |
|
AWS
|
152 |
203 |
2.61e-17 |
SMART |
|
SET
|
204 |
327 |
2.17e-41 |
SMART |
|
PostSET
|
328 |
344 |
2.63e-3 |
SMART |
|
low complexity region
|
358 |
375 |
N/A |
INTRINSIC |
|
PHD
|
381 |
424 |
4.32e-9 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210452
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210903
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the SET domain family of histone lysine N-methyltransferase proteins. This protein methylates histone H3 at lysine residues 4 and 27, which represses gene transcription. It acts in opposition to the histone demethylase Jmjd1c. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2015]
|
| Allele List at MGI |
All alleles(5) : Gene trapped(5)
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1b8 |
G |
A |
6: 34,340,729 (GRCm39) |
A209T |
probably damaging |
Het |
| Ccdc90b |
G |
A |
7: 92,223,854 (GRCm39) |
V117I |
probably benign |
Het |
| Cdkl2 |
A |
T |
5: 92,185,130 (GRCm39) |
I87N |
probably damaging |
Het |
| Cfap57 |
T |
A |
4: 118,438,302 (GRCm39) |
E863V |
probably damaging |
Het |
| Clca3a2 |
G |
A |
3: 144,790,701 (GRCm39) |
S457L |
possibly damaging |
Het |
| Crim1 |
C |
T |
17: 78,658,227 (GRCm39) |
T702I |
probably damaging |
Het |
| Cysltr1 |
C |
A |
X: 105,621,728 (GRCm39) |
V253L |
probably damaging |
Het |
| Dgcr6 |
G |
A |
16: 17,883,038 (GRCm39) |
A6T |
possibly damaging |
Het |
| Dis3l |
T |
C |
9: 64,226,362 (GRCm39) |
|
probably null |
Het |
| Dnm3 |
A |
G |
1: 161,838,471 (GRCm39) |
S826P |
probably damaging |
Het |
| Dspp |
A |
G |
5: 104,323,514 (GRCm39) |
N219S |
possibly damaging |
Het |
| Dzip3 |
T |
C |
16: 48,795,914 (GRCm39) |
|
probably benign |
Het |
| Erc2 |
T |
A |
14: 27,375,028 (GRCm39) |
L82Q |
probably damaging |
Het |
| Ercc6l |
T |
C |
X: 101,188,275 (GRCm39) |
T745A |
probably benign |
Het |
| Gata4 |
T |
C |
14: 63,437,910 (GRCm39) |
T414A |
probably benign |
Het |
| Gmps |
A |
G |
3: 63,921,773 (GRCm39) |
D592G |
probably damaging |
Het |
| Grin3a |
A |
G |
4: 49,702,868 (GRCm39) |
Y873H |
probably damaging |
Het |
| Gsr |
T |
C |
8: 34,175,569 (GRCm39) |
|
probably benign |
Het |
| Gtf2h1 |
T |
C |
7: 46,454,417 (GRCm39) |
L133P |
probably damaging |
Het |
| Ifna5 |
A |
C |
4: 88,754,327 (GRCm39) |
E189A |
probably benign |
Het |
| Irx5 |
A |
G |
8: 93,087,307 (GRCm39) |
Y413C |
probably damaging |
Het |
| Kcnk3 |
A |
G |
5: 30,779,727 (GRCm39) |
E259G |
probably damaging |
Het |
| Kcnt2 |
T |
C |
1: 140,282,299 (GRCm39) |
|
probably benign |
Het |
| Kif19a |
A |
G |
11: 114,679,979 (GRCm39) |
E772G |
probably benign |
Het |
| Klhdc7a |
T |
A |
4: 139,693,121 (GRCm39) |
T609S |
probably benign |
Het |
| Krt78 |
C |
A |
15: 101,856,853 (GRCm39) |
|
probably benign |
Het |
| Lca5 |
A |
T |
9: 83,305,170 (GRCm39) |
I212N |
probably damaging |
Het |
| Lgr6 |
T |
C |
1: 134,929,429 (GRCm39) |
|
probably benign |
Het |
| Madd |
T |
G |
2: 91,008,381 (GRCm39) |
T174P |
probably damaging |
Het |
| Mcm9 |
A |
G |
10: 53,502,033 (GRCm39) |
I184T |
probably damaging |
Het |
| Mlycd |
G |
A |
8: 120,137,073 (GRCm39) |
R431H |
probably damaging |
Het |
| Myh10 |
G |
A |
11: 68,692,994 (GRCm39) |
A1393T |
probably benign |
Het |
| Myof |
G |
T |
19: 37,926,361 (GRCm39) |
Y1144* |
probably null |
Het |
| Nbeal2 |
G |
A |
9: 110,455,063 (GRCm39) |
Q2578* |
probably null |
Het |
| Nlrp4f |
T |
A |
13: 65,342,548 (GRCm39) |
T366S |
probably benign |
Het |
| Nnat |
T |
C |
2: 157,403,167 (GRCm39) |
F36S |
possibly damaging |
Het |
| Or10ak12 |
C |
T |
4: 118,666,696 (GRCm39) |
V122M |
probably benign |
Het |
| Or10k2 |
A |
C |
8: 84,268,015 (GRCm39) |
M81L |
possibly damaging |
Het |
| Or1n1 |
A |
T |
2: 36,749,830 (GRCm39) |
C177S |
probably damaging |
Het |
| Or2g25 |
A |
G |
17: 37,970,363 (GRCm39) |
L287P |
probably damaging |
Het |
| Or4l1 |
G |
A |
14: 50,166,164 (GRCm39) |
T279I |
probably damaging |
Het |
| Pkd1l3 |
A |
G |
8: 110,341,414 (GRCm39) |
N89S |
unknown |
Het |
| Pkd2 |
T |
C |
5: 104,634,636 (GRCm39) |
F556L |
probably damaging |
Het |
| Psen2 |
T |
A |
1: 180,062,626 (GRCm39) |
M239L |
probably damaging |
Het |
| Rad50 |
A |
G |
11: 53,570,876 (GRCm39) |
I794T |
probably benign |
Het |
| Ralgps1 |
G |
A |
2: 33,230,741 (GRCm39) |
T14I |
probably benign |
Het |
| Rnpepl1 |
C |
T |
1: 92,843,629 (GRCm39) |
P250S |
probably damaging |
Het |
| Skic8 |
T |
C |
9: 54,635,545 (GRCm39) |
I19V |
probably damaging |
Het |
| Slc47a2 |
A |
G |
11: 61,227,067 (GRCm39) |
V167A |
possibly damaging |
Het |
| Tmem161b |
T |
A |
13: 84,432,112 (GRCm39) |
V41D |
probably damaging |
Het |
| Vmn2r88 |
A |
T |
14: 51,651,611 (GRCm39) |
E308D |
probably benign |
Het |
| Zfhx4 |
G |
A |
3: 5,476,903 (GRCm39) |
E3148K |
probably damaging |
Het |
|
| Other mutations in Nsd3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00435:Nsd3
|
APN |
8 |
26,166,728 (GRCm39) |
missense |
probably benign |
0.40 |
|
IGL00718:Nsd3
|
APN |
8 |
26,196,562 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL00727:Nsd3
|
APN |
8 |
26,131,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01324:Nsd3
|
APN |
8 |
26,152,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01614:Nsd3
|
APN |
8 |
26,156,095 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL01834:Nsd3
|
APN |
8 |
26,130,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02066:Nsd3
|
APN |
8 |
26,203,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02229:Nsd3
|
APN |
8 |
26,200,775 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02686:Nsd3
|
APN |
8 |
26,156,086 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03394:Nsd3
|
APN |
8 |
26,165,765 (GRCm39) |
splice site |
probably benign |
|
|
Pine
|
UTSW |
8 |
26,169,952 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
D3080:Nsd3
|
UTSW |
8 |
26,203,572 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL02802:Nsd3
|
UTSW |
8 |
26,130,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0136:Nsd3
|
UTSW |
8 |
26,149,870 (GRCm39) |
nonsense |
probably null |
|
|
R0195:Nsd3
|
UTSW |
8 |
26,170,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0207:Nsd3
|
UTSW |
8 |
26,173,273 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0471:Nsd3
|
UTSW |
8 |
26,138,450 (GRCm39) |
splice site |
probably benign |
|
|
R0511:Nsd3
|
UTSW |
8 |
26,168,732 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0524:Nsd3
|
UTSW |
8 |
26,190,605 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0581:Nsd3
|
UTSW |
8 |
26,200,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0589:Nsd3
|
UTSW |
8 |
26,131,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0645:Nsd3
|
UTSW |
8 |
26,199,096 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0664:Nsd3
|
UTSW |
8 |
26,204,267 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0738:Nsd3
|
UTSW |
8 |
26,168,725 (GRCm39) |
splice site |
probably null |
|
|
R1148:Nsd3
|
UTSW |
8 |
26,203,407 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1148:Nsd3
|
UTSW |
8 |
26,203,407 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1265:Nsd3
|
UTSW |
8 |
26,172,578 (GRCm39) |
missense |
probably benign |
|
|
R1298:Nsd3
|
UTSW |
8 |
26,169,952 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1424:Nsd3
|
UTSW |
8 |
26,190,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1493:Nsd3
|
UTSW |
8 |
26,203,407 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1528:Nsd3
|
UTSW |
8 |
26,188,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2051:Nsd3
|
UTSW |
8 |
26,181,116 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2199:Nsd3
|
UTSW |
8 |
26,156,073 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3414:Nsd3
|
UTSW |
8 |
26,190,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3522:Nsd3
|
UTSW |
8 |
26,196,642 (GRCm39) |
missense |
probably benign |
|
|
R3623:Nsd3
|
UTSW |
8 |
26,152,835 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3624:Nsd3
|
UTSW |
8 |
26,152,835 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3798:Nsd3
|
UTSW |
8 |
26,188,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4345:Nsd3
|
UTSW |
8 |
26,131,333 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4370:Nsd3
|
UTSW |
8 |
26,138,524 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4421:Nsd3
|
UTSW |
8 |
26,131,288 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4583:Nsd3
|
UTSW |
8 |
26,200,703 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4664:Nsd3
|
UTSW |
8 |
26,188,894 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4741:Nsd3
|
UTSW |
8 |
26,163,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4876:Nsd3
|
UTSW |
8 |
26,181,161 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4888:Nsd3
|
UTSW |
8 |
26,188,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5000:Nsd3
|
UTSW |
8 |
26,172,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5132:Nsd3
|
UTSW |
8 |
26,168,855 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5632:Nsd3
|
UTSW |
8 |
26,169,985 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5760:Nsd3
|
UTSW |
8 |
26,149,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5778:Nsd3
|
UTSW |
8 |
26,149,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5779:Nsd3
|
UTSW |
8 |
26,172,685 (GRCm39) |
nonsense |
probably null |
|
|
R5860:Nsd3
|
UTSW |
8 |
26,156,107 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5911:Nsd3
|
UTSW |
8 |
26,156,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6168:Nsd3
|
UTSW |
8 |
26,181,188 (GRCm39) |
missense |
probably null |
1.00 |
|
R6467:Nsd3
|
UTSW |
8 |
26,130,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6490:Nsd3
|
UTSW |
8 |
26,204,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6519:Nsd3
|
UTSW |
8 |
26,152,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6554:Nsd3
|
UTSW |
8 |
26,152,891 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7038:Nsd3
|
UTSW |
8 |
26,131,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7088:Nsd3
|
UTSW |
8 |
26,156,050 (GRCm39) |
missense |
probably benign |
0.40 |
|
R7244:Nsd3
|
UTSW |
8 |
26,156,055 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7308:Nsd3
|
UTSW |
8 |
26,130,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7678:Nsd3
|
UTSW |
8 |
26,149,833 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7717:Nsd3
|
UTSW |
8 |
26,172,578 (GRCm39) |
missense |
probably benign |
|
|
R8064:Nsd3
|
UTSW |
8 |
26,190,698 (GRCm39) |
nonsense |
probably null |
|
|
R8242:Nsd3
|
UTSW |
8 |
26,196,567 (GRCm39) |
nonsense |
probably null |
|
|
R8312:Nsd3
|
UTSW |
8 |
26,153,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8547:Nsd3
|
UTSW |
8 |
26,184,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8954:Nsd3
|
UTSW |
8 |
26,163,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8995:Nsd3
|
UTSW |
8 |
26,131,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9026:Nsd3
|
UTSW |
8 |
26,172,576 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9281:Nsd3
|
UTSW |
8 |
26,152,961 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9320:Nsd3
|
UTSW |
8 |
26,199,088 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9563:Nsd3
|
UTSW |
8 |
26,204,230 (GRCm39) |
missense |
|
|
|
R9703:Nsd3
|
UTSW |
8 |
26,131,228 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0026:Nsd3
|
UTSW |
8 |
26,190,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Nsd3
|
UTSW |
8 |
26,131,018 (GRCm39) |
small deletion |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation