Incidental Mutation 'R0589:Nsd3'
ID |
55873 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nsd3
|
Ensembl Gene |
ENSMUSG00000054823 |
Gene Name |
nuclear receptor binding SET domain protein 3 |
Synonyms |
Whsc1l1, WHISTLE |
MMRRC Submission |
038779-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.303)
|
Stock # |
R0589 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
26091617-26209694 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 26131303 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 223
(S223P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147926
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084026]
[ENSMUST00000136107]
[ENSMUST00000139966]
[ENSMUST00000142395]
[ENSMUST00000143445]
[ENSMUST00000146919]
[ENSMUST00000155861]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000084026
AA Change: S223P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000081040 Gene: ENSMUSG00000054823 AA Change: S223P
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: ENSMUST00000136107
AA Change: S223P
PolyPhen 2
Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000139966
AA Change: S223P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000122096 Gene: ENSMUSG00000054823 AA Change: S223P
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 benign
Transcript: ENSMUST00000142395
AA Change: S223P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000117778 Gene: ENSMUSG00000054823 AA Change: S223P
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 damaging
Transcript: ENSMUST00000143445
AA Change: S223P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146919
AA Change: S223P
PolyPhen 2
Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000115470 Gene: ENSMUSG00000054823 AA Change: S223P
Domain | Start | End | E-Value | Type |
low complexity region
|
128 |
151 |
N/A |
INTRINSIC |
low complexity region
|
193 |
225 |
N/A |
INTRINSIC |
Pfam:PWWP
|
278 |
388 |
1.6e-25 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155861
AA Change: S223P
PolyPhen 2
Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000117596 Gene: ENSMUSG00000054823 AA Change: S223P
Domain | Start | End | E-Value | Type |
low complexity region
|
128 |
151 |
N/A |
INTRINSIC |
low complexity region
|
193 |
225 |
N/A |
INTRINSIC |
Pfam:PWWP
|
278 |
388 |
1.6e-25 |
PFAM |
|
Meta Mutation Damage Score |
0.0602 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 94.1%
|
Validation Efficiency |
98% (62/63) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
G |
T |
11: 109,833,094 (GRCm39) |
A1202E |
probably damaging |
Het |
Abcc12 |
A |
T |
8: 87,287,101 (GRCm39) |
I155N |
possibly damaging |
Het |
Atf4 |
T |
A |
15: 80,140,640 (GRCm39) |
H47Q |
probably damaging |
Het |
Atm |
T |
A |
9: 53,401,492 (GRCm39) |
D1459V |
possibly damaging |
Het |
Bicral |
A |
G |
17: 47,112,522 (GRCm39) |
S893P |
probably benign |
Het |
Camk2a |
G |
A |
18: 61,097,036 (GRCm39) |
|
probably null |
Het |
Cebpz |
G |
A |
17: 79,244,308 (GRCm39) |
T51I |
probably damaging |
Het |
Cers5 |
A |
T |
15: 99,638,837 (GRCm39) |
D208E |
probably damaging |
Het |
Cimip2b |
T |
C |
4: 43,427,355 (GRCm39) |
|
probably benign |
Het |
Cyp1a2 |
T |
C |
9: 57,586,345 (GRCm39) |
D391G |
possibly damaging |
Het |
Dct |
G |
T |
14: 118,280,682 (GRCm39) |
F111L |
probably benign |
Het |
Ddb1 |
T |
G |
19: 10,599,080 (GRCm39) |
I529S |
probably benign |
Het |
Dhx9 |
G |
T |
1: 153,348,037 (GRCm39) |
Q361K |
probably damaging |
Het |
Dnai3 |
A |
G |
3: 145,768,086 (GRCm39) |
S592P |
probably benign |
Het |
Erbin |
G |
T |
13: 104,022,795 (GRCm39) |
R15S |
probably damaging |
Het |
F13b |
T |
C |
1: 139,434,671 (GRCm39) |
S146P |
possibly damaging |
Het |
Ggnbp2 |
A |
T |
11: 84,727,277 (GRCm39) |
C520S |
probably damaging |
Het |
Gpx3 |
A |
G |
11: 54,800,329 (GRCm39) |
I208V |
probably benign |
Het |
Grk3 |
A |
G |
5: 113,076,629 (GRCm39) |
|
probably benign |
Het |
Heatr9 |
T |
C |
11: 83,405,516 (GRCm39) |
|
probably benign |
Het |
Heg1 |
T |
G |
16: 33,552,077 (GRCm39) |
I762R |
probably damaging |
Het |
Ints11 |
A |
T |
4: 155,971,343 (GRCm39) |
T264S |
probably damaging |
Het |
Ints14 |
T |
C |
9: 64,887,113 (GRCm39) |
L348P |
probably damaging |
Het |
Maco1 |
C |
A |
4: 134,555,528 (GRCm39) |
C315F |
probably benign |
Het |
Marf1 |
C |
A |
16: 13,959,919 (GRCm39) |
|
probably benign |
Het |
Med13 |
A |
G |
11: 86,174,075 (GRCm39) |
Y1808H |
probably damaging |
Het |
Mef2a |
G |
T |
7: 66,884,896 (GRCm39) |
S406* |
probably null |
Het |
Mrpl45 |
A |
T |
11: 97,214,714 (GRCm39) |
T134S |
probably benign |
Het |
Myh8 |
A |
G |
11: 67,189,453 (GRCm39) |
I1210V |
probably benign |
Het |
Or2j6 |
T |
G |
7: 139,980,813 (GRCm39) |
S49R |
possibly damaging |
Het |
Or4c115 |
A |
G |
2: 88,927,606 (GRCm39) |
F222L |
probably benign |
Het |
Or5be3 |
A |
T |
2: 86,864,459 (GRCm39) |
Y35* |
probably null |
Het |
P3h3 |
T |
A |
6: 124,818,644 (GRCm39) |
E731D |
probably damaging |
Het |
Pcdhac2 |
A |
G |
18: 37,279,527 (GRCm39) |
R836G |
probably benign |
Het |
Pdzd2 |
A |
G |
15: 12,376,385 (GRCm39) |
V1250A |
probably benign |
Het |
Pgbd1 |
G |
A |
13: 21,618,600 (GRCm39) |
T19I |
possibly damaging |
Het |
Phtf2 |
T |
A |
5: 21,018,249 (GRCm39) |
R31* |
probably null |
Het |
Plod2 |
T |
A |
9: 92,475,799 (GRCm39) |
V294D |
probably benign |
Het |
Rassf5 |
C |
T |
1: 131,172,720 (GRCm39) |
G50R |
probably damaging |
Het |
Rexo5 |
A |
G |
7: 119,444,606 (GRCm39) |
T694A |
probably benign |
Het |
Rtcb |
A |
C |
10: 85,787,315 (GRCm39) |
S82A |
probably damaging |
Het |
Rufy4 |
T |
C |
1: 74,172,042 (GRCm39) |
L255P |
probably damaging |
Het |
Slc35c1 |
A |
G |
2: 92,284,859 (GRCm39) |
F252L |
probably damaging |
Het |
Slco6d1 |
A |
T |
1: 98,427,472 (GRCm39) |
|
probably benign |
Het |
Sox10 |
T |
G |
15: 79,047,485 (GRCm39) |
|
probably benign |
Het |
Stard9 |
A |
G |
2: 120,529,028 (GRCm39) |
M1762V |
probably benign |
Het |
Stat3 |
A |
T |
11: 100,798,909 (GRCm39) |
Y94N |
probably damaging |
Het |
Tasor |
T |
C |
14: 27,183,107 (GRCm39) |
I522T |
probably benign |
Het |
Tecta |
T |
A |
9: 42,256,930 (GRCm39) |
Y1582F |
probably benign |
Het |
Tex44 |
A |
G |
1: 86,355,453 (GRCm39) |
D454G |
probably damaging |
Het |
Tle6 |
A |
G |
10: 81,431,253 (GRCm39) |
|
probably benign |
Het |
Tmod2 |
T |
C |
9: 75,484,041 (GRCm39) |
E303G |
probably damaging |
Het |
Trem1 |
A |
G |
17: 48,544,245 (GRCm39) |
D90G |
possibly damaging |
Het |
Trhde |
A |
T |
10: 114,284,229 (GRCm39) |
D751E |
probably benign |
Het |
Ttn |
A |
T |
2: 76,795,589 (GRCm39) |
|
probably null |
Het |
Vars2 |
T |
C |
17: 35,970,068 (GRCm39) |
T774A |
probably benign |
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 |
IGL02481:Nsd3
|
APN |
8 |
26,181,143 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGACCTTCCTCCGCTCACAAATGG -3'
(R):5'- TTTCCAGGCACCTTGCCAATGG -3'
Sequencing Primer
(F):5'- cctcctcttcctcctcctc -3'
(R):5'- TGGCAAGAACTCACTAGAAATATTC -3'
|
Posted On |
2013-07-11 |