Incidental Mutation 'R1424:Nsd3'
ID |
247308 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nsd3
|
Ensembl Gene |
ENSMUSG00000054823 |
Gene Name |
nuclear receptor binding SET domain protein 3 |
Synonyms |
Whsc1l1, WHISTLE |
MMRRC Submission |
039480-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.361)
|
Stock # |
R1424 (G1)
|
Quality Score |
47 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
26091617-26209694 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 26190594 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 175
(N175S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123028
(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: N1126S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000081040 Gene: ENSMUSG00000054823 AA Change: N1126S
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 |
noncoding transcript
Transcript: ENSMUST00000129959
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000139966
AA Change: N1077S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000122096 Gene: ENSMUSG00000054823 AA Change: N1077S
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: N1126S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000117778 Gene: ENSMUSG00000054823 AA Change: N1126S
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 |
noncoding transcript
Transcript: ENSMUST00000147935
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000153597
AA Change: N175S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000123028 Gene: ENSMUSG00000054823 AA Change: N175S
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 |
|
Meta Mutation Damage Score |
0.4862 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.1%
- 20x: 88.6%
|
Validation Efficiency |
97% (57/59) |
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 |
4930447C04Rik |
C |
A |
12: 72,939,669 (GRCm39) |
E415* |
probably null |
Het |
Abcb10 |
C |
T |
8: 124,688,791 (GRCm39) |
G495D |
probably damaging |
Het |
Acad12 |
C |
T |
5: 121,742,385 (GRCm39) |
A408T |
probably benign |
Het |
Acox2 |
T |
A |
14: 8,230,247 (GRCm38) |
H632L |
probably benign |
Het |
Anxa5 |
A |
T |
3: 36,506,441 (GRCm39) |
|
probably null |
Het |
Ap1m2 |
A |
T |
9: 21,209,500 (GRCm39) |
I392N |
possibly damaging |
Het |
Casp2 |
T |
C |
6: 42,253,725 (GRCm39) |
|
probably benign |
Het |
Cel |
C |
T |
2: 28,449,636 (GRCm39) |
A243T |
probably damaging |
Het |
Depp1 |
A |
G |
6: 116,628,966 (GRCm39) |
N103S |
possibly damaging |
Het |
Dgka |
A |
T |
10: 128,569,202 (GRCm39) |
S177T |
possibly damaging |
Het |
Dnajc6 |
A |
G |
4: 101,496,544 (GRCm39) |
T836A |
possibly damaging |
Het |
Dock3 |
T |
C |
9: 106,790,392 (GRCm39) |
S1444G |
probably damaging |
Het |
Dtl |
T |
C |
1: 191,293,649 (GRCm39) |
D176G |
probably benign |
Het |
Eif4g1 |
T |
C |
16: 20,497,692 (GRCm39) |
I230T |
probably benign |
Het |
Fam227a |
T |
A |
15: 79,518,309 (GRCm39) |
I328F |
probably benign |
Het |
Fam98a |
A |
G |
17: 75,847,173 (GRCm39) |
L179S |
probably damaging |
Het |
Fgb |
A |
T |
3: 82,954,070 (GRCm39) |
I56N |
probably damaging |
Het |
Fmo1 |
C |
T |
1: 162,657,635 (GRCm39) |
R502Q |
probably damaging |
Het |
Fndc3a |
C |
T |
14: 72,811,811 (GRCm39) |
A340T |
probably damaging |
Het |
Gli3 |
C |
A |
13: 15,900,899 (GRCm39) |
Q1429K |
probably benign |
Het |
Gm3443 |
A |
T |
19: 21,534,959 (GRCm39) |
I75F |
possibly damaging |
Het |
Gtpbp6 |
C |
T |
5: 110,252,155 (GRCm39) |
|
probably null |
Het |
Gtsf1 |
A |
T |
15: 103,318,070 (GRCm39) |
Y156* |
probably null |
Het |
Hmcn1 |
T |
C |
1: 150,522,545 (GRCm39) |
T3452A |
probably benign |
Het |
Kcnj10 |
T |
A |
1: 172,196,822 (GRCm39) |
V112E |
probably damaging |
Het |
Lama3 |
C |
A |
18: 12,653,048 (GRCm39) |
T256K |
probably benign |
Het |
Lrrc8d |
G |
A |
5: 105,974,782 (GRCm39) |
V63M |
unknown |
Het |
Matn3 |
G |
T |
12: 9,011,132 (GRCm39) |
A348S |
possibly damaging |
Het |
Mmp16 |
A |
G |
4: 18,112,121 (GRCm39) |
|
probably null |
Het |
Or11h4 |
A |
T |
14: 50,974,521 (GRCm39) |
F33I |
probably benign |
Het |
Or1d2 |
C |
A |
11: 74,255,780 (GRCm39) |
P95Q |
probably benign |
Het |
Or4c35 |
C |
T |
2: 89,808,415 (GRCm39) |
Q98* |
probably null |
Het |
Or4k5 |
C |
A |
14: 50,385,922 (GRCm39) |
M136I |
possibly damaging |
Het |
Pcdhb12 |
T |
A |
18: 37,571,132 (GRCm39) |
N759K |
probably benign |
Het |
Pcsk2 |
T |
C |
2: 143,415,348 (GRCm39) |
|
probably benign |
Het |
Polq |
G |
A |
16: 36,906,890 (GRCm39) |
D2284N |
probably damaging |
Het |
Prdm12 |
C |
T |
2: 31,533,823 (GRCm39) |
R147C |
probably damaging |
Het |
Ptprz1 |
A |
G |
6: 23,000,382 (GRCm39) |
D824G |
probably benign |
Het |
Rere |
C |
T |
4: 150,701,495 (GRCm39) |
R1292C |
probably damaging |
Het |
Rptor |
T |
A |
11: 119,671,419 (GRCm39) |
L294* |
probably null |
Het |
Sbf2 |
A |
T |
7: 109,914,233 (GRCm39) |
C1650S |
probably damaging |
Het |
Sdk1 |
C |
T |
5: 142,147,621 (GRCm39) |
T1751I |
probably damaging |
Het |
Sh3bp1 |
T |
C |
15: 78,787,899 (GRCm39) |
|
probably null |
Het |
Shank2 |
T |
A |
7: 143,606,109 (GRCm39) |
D97E |
probably damaging |
Het |
Tab2 |
A |
C |
10: 7,795,812 (GRCm39) |
S149R |
possibly damaging |
Het |
Taok1 |
G |
T |
11: 77,440,190 (GRCm39) |
R606S |
probably benign |
Het |
Tas2r121 |
A |
G |
6: 132,677,645 (GRCm39) |
L109P |
probably damaging |
Het |
Tmem117 |
A |
G |
15: 94,829,689 (GRCm39) |
M175V |
probably benign |
Het |
Tmprss11b |
T |
C |
5: 86,812,832 (GRCm39) |
K155E |
probably benign |
Het |
Tmtc2 |
G |
T |
10: 105,249,229 (GRCm39) |
T168N |
probably benign |
Het |
Top2b |
G |
A |
14: 16,383,177 (GRCm38) |
R55H |
probably damaging |
Het |
Tsga10ip |
C |
T |
19: 5,440,942 (GRCm39) |
|
probably null |
Het |
Tuba8 |
A |
G |
6: 121,197,470 (GRCm39) |
N44S |
probably benign |
Het |
Ube2o |
A |
G |
11: 116,434,558 (GRCm39) |
V590A |
probably benign |
Het |
Ush2a |
T |
G |
1: 188,275,075 (GRCm39) |
|
probably null |
Het |
Vmn2r23 |
T |
A |
6: 123,690,229 (GRCm39) |
Y368* |
probably null |
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 |
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 |
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'- TGAGACTTGACATCAAGCTTCAGCC -3'
(R):5'- CCCTGTGAGAAGTGAGAAGTCCAAC -3'
Sequencing Primer
(F):5'- CTCGTCTATTCTGGAGAAATCACG -3'
(R):5'- GTGAGAAGTCCAACTTTAAGTAGC -3'
|
Posted On |
2014-11-07 |