Incidental Mutation 'R1493:Nsd3'
ID |
165554 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nsd3
|
Ensembl Gene |
ENSMUSG00000054823 |
Gene Name |
nuclear receptor binding SET domain protein 3 |
Synonyms |
Whsc1l1, WHISTLE |
MMRRC Submission |
039544-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.303)
|
Stock # |
R1493 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
26091617-26209694 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 26203407 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 1307
(D1307G)
|
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 benign
Transcript: ENSMUST00000084026
AA Change: D1307G
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000081040 Gene: ENSMUSG00000054823 AA Change: D1307G
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
AA Change: D1258G
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000122096 Gene: ENSMUSG00000054823 AA Change: D1258G
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: D1307G
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000117778 Gene: ENSMUSG00000054823 AA Change: D1307G
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
AA Change: D345G
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000123028 Gene: ENSMUSG00000054823 AA Change: D345G
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.2%
- 20x: 92.9%
|
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2810021J22Rik |
T |
C |
11: 58,767,544 (GRCm39) |
S14P |
probably damaging |
Het |
Abca15 |
A |
T |
7: 119,981,513 (GRCm39) |
D989V |
probably benign |
Het |
Abcg8 |
T |
C |
17: 85,004,107 (GRCm39) |
S472P |
probably damaging |
Het |
Ablim2 |
T |
C |
5: 35,966,605 (GRCm39) |
F178S |
probably damaging |
Het |
Adprm |
A |
G |
11: 66,932,702 (GRCm39) |
V69A |
possibly damaging |
Het |
Ankrd27 |
C |
T |
7: 35,307,790 (GRCm39) |
S343L |
probably benign |
Het |
Arfgef3 |
A |
G |
10: 18,506,627 (GRCm39) |
S833P |
probably damaging |
Het |
Arhgap42 |
T |
G |
9: 9,030,798 (GRCm39) |
E339D |
probably benign |
Het |
Axdnd1 |
T |
A |
1: 156,174,271 (GRCm39) |
M799L |
probably benign |
Het |
Cars2 |
A |
T |
8: 11,567,817 (GRCm39) |
|
probably null |
Het |
Cd7 |
T |
C |
11: 120,928,967 (GRCm39) |
T95A |
probably damaging |
Het |
Cep290 |
A |
T |
10: 100,398,043 (GRCm39) |
T2200S |
probably benign |
Het |
Cep44 |
A |
G |
8: 56,985,870 (GRCm39) |
S299P |
probably damaging |
Het |
Cfap58 |
C |
T |
19: 47,976,943 (GRCm39) |
H731Y |
probably damaging |
Het |
Ehbp1 |
T |
A |
11: 21,956,866 (GRCm39) |
E1204V |
probably damaging |
Het |
Fgd5 |
A |
G |
6: 91,964,612 (GRCm39) |
K124E |
probably benign |
Het |
Folh1 |
T |
C |
7: 86,410,938 (GRCm39) |
D268G |
probably damaging |
Het |
Gm4559 |
A |
T |
7: 141,828,050 (GRCm39) |
C17* |
probably null |
Het |
Helz |
A |
G |
11: 107,504,751 (GRCm39) |
I413V |
probably benign |
Het |
Hexd |
A |
G |
11: 121,112,093 (GRCm39) |
I438V |
probably benign |
Het |
Hrh1 |
G |
A |
6: 114,457,838 (GRCm39) |
G373D |
probably damaging |
Het |
Hs3st5 |
G |
A |
10: 36,708,870 (GRCm39) |
G135D |
probably damaging |
Het |
Iqcf6 |
T |
C |
9: 106,504,641 (GRCm39) |
Y102H |
probably benign |
Het |
Kmt2a |
A |
T |
9: 44,758,202 (GRCm39) |
S1124R |
probably damaging |
Het |
Map3k5 |
A |
G |
10: 19,904,859 (GRCm39) |
D387G |
probably damaging |
Het |
Morc2a |
A |
G |
11: 3,628,557 (GRCm39) |
N337D |
probably benign |
Het |
Musk |
C |
T |
4: 58,354,003 (GRCm39) |
A352V |
probably benign |
Het |
Myef2l |
A |
G |
3: 10,153,944 (GRCm39) |
K238E |
probably damaging |
Het |
Nans |
G |
A |
4: 46,500,761 (GRCm39) |
E218K |
probably damaging |
Het |
Niban1 |
T |
A |
1: 151,581,841 (GRCm39) |
V479D |
probably damaging |
Het |
Ninl |
T |
G |
2: 150,822,015 (GRCm39) |
D29A |
probably damaging |
Het |
Nod1 |
A |
G |
6: 54,921,041 (GRCm39) |
F426L |
probably damaging |
Het |
Notch4 |
T |
A |
17: 34,786,656 (GRCm39) |
C265* |
probably null |
Het |
Or51h1 |
T |
C |
7: 102,308,220 (GRCm39) |
L64P |
probably damaging |
Het |
Or52e18 |
T |
A |
7: 104,609,709 (GRCm39) |
T77S |
probably damaging |
Het |
Orai3 |
G |
A |
7: 127,373,077 (GRCm39) |
V193M |
possibly damaging |
Het |
Prkag1 |
T |
C |
15: 98,711,551 (GRCm39) |
Y271C |
probably benign |
Het |
Rfc4 |
T |
C |
16: 22,936,758 (GRCm39) |
I116V |
probably damaging |
Het |
Ric1 |
T |
C |
19: 29,557,249 (GRCm39) |
Y445H |
probably benign |
Het |
Rnmt |
G |
A |
18: 68,446,778 (GRCm39) |
D268N |
probably damaging |
Het |
Rsph1 |
C |
T |
17: 31,484,873 (GRCm39) |
G139D |
probably damaging |
Het |
Sez6l2 |
C |
A |
7: 126,560,984 (GRCm39) |
P483Q |
probably damaging |
Het |
Sgo2b |
A |
G |
8: 64,379,889 (GRCm39) |
L981P |
probably damaging |
Het |
Shmt2 |
A |
G |
10: 127,354,812 (GRCm39) |
|
probably null |
Het |
Sorbs3 |
T |
C |
14: 70,430,076 (GRCm39) |
T353A |
possibly damaging |
Het |
Stk25 |
T |
C |
1: 93,553,322 (GRCm39) |
T260A |
probably benign |
Het |
Tasor |
A |
G |
14: 27,171,926 (GRCm39) |
S425G |
probably damaging |
Het |
Thap12 |
A |
G |
7: 98,364,645 (GRCm39) |
H271R |
probably benign |
Het |
Tmprss13 |
A |
G |
9: 45,247,405 (GRCm39) |
T256A |
probably benign |
Het |
Tpo |
A |
T |
12: 30,181,808 (GRCm39) |
I29N |
possibly damaging |
Het |
Trpc2 |
A |
T |
7: 101,739,783 (GRCm39) |
N569I |
probably damaging |
Het |
Unc13c |
T |
C |
9: 73,546,350 (GRCm39) |
T1607A |
probably benign |
Het |
Vldlr |
A |
G |
19: 27,218,691 (GRCm39) |
N514S |
probably benign |
Het |
Vps18 |
A |
G |
2: 119,127,613 (GRCm39) |
Y812C |
probably damaging |
Het |
Zfp692 |
A |
T |
11: 58,204,866 (GRCm39) |
I409F |
probably damaging |
Het |
Zfp735 |
G |
A |
11: 73,601,305 (GRCm39) |
C83Y |
possibly damaging |
Het |
Zic1 |
A |
G |
9: 91,246,809 (GRCm39) |
S88P |
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 |
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 |
R1424:Nsd3
|
UTSW |
8 |
26,190,594 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- GTTGACAGGCTGCTGTACTCACTG -3'
(R):5'- ACCACATGAGGTACACGTCATTTGC -3'
Sequencing Primer
(F):5'- ACATGCAGAGATGCACAGGT -3'
(R):5'- GCAATGTATCCCAAATCAGTGGTG -3'
|
Posted On |
2014-03-28 |