Incidental Mutation 'R1298:Nsd3'
| ID |
158216 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nsd3
|
| Ensembl Gene |
ENSMUSG00000054823 |
| Gene Name |
nuclear receptor binding SET domain protein 3 |
| Synonyms |
Whsc1l1, WHISTLE |
| MMRRC Submission |
039364-MU
|
| Accession Numbers |
Genbank: NM_001081269, NM_001001735.1; MGI: 2142581; Ensemb: ENSMUST00000155861, ENSMUST00000146919, ENSMUST00000142395, ENSMUST00000139966, ENSMUST00000153597, ENSMUST00000084026, ENSMUST0000017135
|
| Essential gene? |
Possibly non essential
(E-score: 0.458)
|
| Stock # |
R1298 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
25601601-25719667 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 25679936 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 696
(V696E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117778
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084026]
[ENSMUST00000139966]
[ENSMUST00000142395]
[ENSMUST00000146919]
[ENSMUST00000155861]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000084026
AA Change: V696E
PolyPhen 2
Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000081040
Gene: ENSMUSG00000054823
AA Change: V696E
| 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 |
possibly damaging
Transcript: ENSMUST00000139966
AA Change: V696E
PolyPhen 2
Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000122096
Gene: ENSMUSG00000054823
AA Change: V696E
| 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 |
noncoding transcript
Transcript: ENSMUST00000141781
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000142395
AA Change: V696E
PolyPhen 2
Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000117778
Gene: ENSMUSG00000054823
AA Change: V696E
| 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: ENSMUST00000146919
|
| SMART Domains |
Protein: ENSMUSP00000115470
Gene: ENSMUSG00000054823
| 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
|
| SMART Domains |
Protein: ENSMUSP00000117596
Gene: ENSMUSG00000054823
| 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 |
noncoding transcript
Transcript: ENSMUST00000157551
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 94.1%
|
| Validation Efficiency |
100% (38/38) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alox5 |
A |
G |
6: 116,427,264 |
W145R |
probably damaging |
Het |
| Aspm |
T |
A |
1: 139,457,419 |
V267D |
probably benign |
Het |
| Bbs4 |
A |
T |
9: 59,339,813 |
W135R |
probably damaging |
Het |
| Cavin4 |
T |
C |
4: 48,672,593 |
V346A |
probably benign |
Het |
| Cdk18 |
A |
C |
1: 132,122,451 |
|
probably benign |
Het |
| Cyp2j11 |
C |
T |
4: 96,307,260 |
|
probably null |
Het |
| Dnah6 |
A |
T |
6: 73,159,135 |
I1007K |
probably damaging |
Het |
| Dnmt1 |
T |
C |
9: 20,941,456 |
E118G |
probably benign |
Het |
| Eef2 |
C |
CN |
10: 81,178,768 |
|
probably null |
Het |
| Gm14496 |
T |
C |
2: 181,996,092 |
F320L |
probably benign |
Het |
| Gm2046 |
T |
A |
12: 87,980,083 |
D98E |
probably benign |
Het |
| Gsdmc3 |
A |
T |
15: 63,860,281 |
L299M |
probably damaging |
Het |
| H6pd |
T |
C |
4: 149,982,514 |
I472V |
probably benign |
Het |
| Hao2 |
G |
T |
3: 98,883,669 |
T63K |
possibly damaging |
Het |
| Jag2 |
C |
T |
12: 112,916,319 |
|
probably benign |
Het |
| Mapre3 |
A |
G |
5: 30,864,867 |
Y211C |
probably damaging |
Het |
| Mycbp2 |
A |
G |
14: 103,155,898 |
S2966P |
probably damaging |
Het |
| Obscn |
A |
G |
11: 59,054,897 |
Y4163H |
possibly damaging |
Het |
| Olfr1120 |
G |
A |
2: 87,358,070 |
A209T |
probably benign |
Het |
| Olfr747 |
A |
T |
14: 50,680,880 |
Y251* |
probably null |
Het |
| Olfr788 |
G |
T |
10: 129,473,064 |
C124F |
probably damaging |
Het |
| Pde2a |
A |
G |
7: 101,507,202 |
E607G |
probably benign |
Het |
| Pinlyp |
T |
A |
7: 24,544,966 |
D51V |
probably damaging |
Het |
| Rcbtb2 |
T |
A |
14: 73,162,388 |
I87N |
probably damaging |
Het |
| Sfswap |
A |
G |
5: 129,541,378 |
I459V |
probably benign |
Het |
| Slitrk6 |
T |
C |
14: 110,751,865 |
N137D |
possibly damaging |
Het |
| Smg1 |
A |
T |
7: 118,168,211 |
|
probably benign |
Het |
| Sobp |
T |
A |
10: 43,022,335 |
H418L |
probably damaging |
Het |
| Spock1 |
A |
C |
13: 57,512,750 |
D180E |
probably benign |
Het |
| Upk3a |
G |
A |
15: 85,020,551 |
V167I |
probably benign |
Het |
| Vmn1r180 |
T |
C |
7: 23,953,147 |
V245A |
possibly damaging |
Het |
| Zbtb25 |
T |
C |
12: 76,350,001 |
E149G |
probably benign |
Het |
| Zgrf1 |
T |
C |
3: 127,583,889 |
C44R |
possibly damaging |
Het |
|
| Other mutations in Nsd3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00435:Nsd3
|
APN |
8 |
25676712 |
missense |
probably benign |
0.40 |
|
IGL00718:Nsd3
|
APN |
8 |
25706534 |
missense |
probably damaging |
0.97 |
|
IGL00727:Nsd3
|
APN |
8 |
25641158 |
missense |
probably damaging |
1.00 |
|
IGL01324:Nsd3
|
APN |
8 |
25662820 |
missense |
probably damaging |
1.00 |
|
IGL01614:Nsd3
|
APN |
8 |
25666079 |
missense |
possibly damaging |
0.65 |
|
IGL01834:Nsd3
|
APN |
8 |
25640652 |
missense |
probably damaging |
1.00 |
|
IGL02066:Nsd3
|
APN |
8 |
25713488 |
missense |
probably damaging |
1.00 |
|
IGL02229:Nsd3
|
APN |
8 |
25710748 |
missense |
probably damaging |
0.98 |
|
IGL02481:Nsd3
|
APN |
8 |
25691116 |
missense |
probably damaging |
1.00 |
|
IGL02686:Nsd3
|
APN |
8 |
25666070 |
missense |
probably damaging |
0.96 |
|
IGL03394:Nsd3
|
APN |
8 |
25675749 |
splice site |
probably benign |
|
|
Pine
|
UTSW |
8 |
25679936 |
missense |
possibly damaging |
0.87 |
|
D3080:Nsd3
|
UTSW |
8 |
25713545 |
missense |
possibly damaging |
0.77 |
|
IGL02802:Nsd3
|
UTSW |
8 |
25640906 |
missense |
probably damaging |
1.00 |
|
R0136:Nsd3
|
UTSW |
8 |
25659854 |
nonsense |
probably null |
|
|
R0195:Nsd3
|
UTSW |
8 |
25680693 |
missense |
probably damaging |
1.00 |
|
R0207:Nsd3
|
UTSW |
8 |
25683257 |
missense |
probably benign |
0.02 |
|
R0471:Nsd3
|
UTSW |
8 |
25648434 |
splice site |
probably benign |
|
|
R0511:Nsd3
|
UTSW |
8 |
25678716 |
missense |
possibly damaging |
0.81 |
|
R0524:Nsd3
|
UTSW |
8 |
25700577 |
missense |
possibly damaging |
0.90 |
|
R0581:Nsd3
|
UTSW |
8 |
25710691 |
missense |
probably damaging |
1.00 |
|
R0589:Nsd3
|
UTSW |
8 |
25641287 |
missense |
probably damaging |
1.00 |
|
R0645:Nsd3
|
UTSW |
8 |
25709069 |
missense |
probably benign |
0.08 |
|
R0664:Nsd3
|
UTSW |
8 |
25714240 |
missense |
probably damaging |
0.97 |
|
R0738:Nsd3
|
UTSW |
8 |
25678709 |
splice site |
probably null |
|
|
R1148:Nsd3
|
UTSW |
8 |
25713380 |
missense |
probably benign |
0.09 |
|
R1148:Nsd3
|
UTSW |
8 |
25713380 |
missense |
probably benign |
0.09 |
|
R1265:Nsd3
|
UTSW |
8 |
25682562 |
missense |
probably benign |
|
|
R1424:Nsd3
|
UTSW |
8 |
25700566 |
missense |
probably damaging |
1.00 |
|
R1493:Nsd3
|
UTSW |
8 |
25713380 |
missense |
probably benign |
0.09 |
|
R1528:Nsd3
|
UTSW |
8 |
25698767 |
missense |
probably damaging |
1.00 |
|
R2051:Nsd3
|
UTSW |
8 |
25691089 |
missense |
probably damaging |
0.99 |
|
R2199:Nsd3
|
UTSW |
8 |
25666057 |
missense |
probably damaging |
0.99 |
|
R3414:Nsd3
|
UTSW |
8 |
25700019 |
missense |
probably damaging |
1.00 |
|
R3522:Nsd3
|
UTSW |
8 |
25706614 |
missense |
probably benign |
|
|
R3623:Nsd3
|
UTSW |
8 |
25662819 |
missense |
probably damaging |
0.98 |
|
R3624:Nsd3
|
UTSW |
8 |
25662819 |
missense |
probably damaging |
0.98 |
|
R3798:Nsd3
|
UTSW |
8 |
25698845 |
missense |
probably damaging |
1.00 |
|
R4345:Nsd3
|
UTSW |
8 |
25641317 |
missense |
probably benign |
0.04 |
|
R4370:Nsd3
|
UTSW |
8 |
25648508 |
missense |
probably benign |
0.13 |
|
R4421:Nsd3
|
UTSW |
8 |
25641272 |
missense |
probably damaging |
0.99 |
|
R4583:Nsd3
|
UTSW |
8 |
25710676 |
missense |
probably benign |
0.20 |
|
R4664:Nsd3
|
UTSW |
8 |
25698866 |
missense |
probably damaging |
1.00 |
|
R4741:Nsd3
|
UTSW |
8 |
25673366 |
missense |
probably damaging |
1.00 |
|
R4876:Nsd3
|
UTSW |
8 |
25691134 |
missense |
possibly damaging |
0.94 |
|
R4888:Nsd3
|
UTSW |
8 |
25698911 |
missense |
probably damaging |
1.00 |
|
R5000:Nsd3
|
UTSW |
8 |
25682577 |
missense |
probably damaging |
1.00 |
|
R5132:Nsd3
|
UTSW |
8 |
25678839 |
missense |
possibly damaging |
0.73 |
|
R5632:Nsd3
|
UTSW |
8 |
25679969 |
missense |
probably benign |
0.00 |
|
R5760:Nsd3
|
UTSW |
8 |
25659756 |
missense |
probably damaging |
1.00 |
|
R5778:Nsd3
|
UTSW |
8 |
25659818 |
missense |
probably damaging |
1.00 |
|
R5779:Nsd3
|
UTSW |
8 |
25682669 |
nonsense |
probably null |
|
|
R5860:Nsd3
|
UTSW |
8 |
25666091 |
missense |
probably damaging |
0.98 |
|
R5911:Nsd3
|
UTSW |
8 |
25666076 |
missense |
probably damaging |
1.00 |
|
R6168:Nsd3
|
UTSW |
8 |
25691161 |
missense |
probably null |
1.00 |
|
R6467:Nsd3
|
UTSW |
8 |
25640630 |
missense |
probably damaging |
1.00 |
|
R6490:Nsd3
|
UTSW |
8 |
25714185 |
missense |
probably damaging |
1.00 |
|
R6519:Nsd3
|
UTSW |
8 |
25662939 |
missense |
probably damaging |
1.00 |
|
R6554:Nsd3
|
UTSW |
8 |
25662875 |
missense |
probably damaging |
0.99 |
|
R7038:Nsd3
|
UTSW |
8 |
25641263 |
missense |
probably damaging |
1.00 |
|
R7088:Nsd3
|
UTSW |
8 |
25666034 |
missense |
probably benign |
0.40 |
|
R7244:Nsd3
|
UTSW |
8 |
25666039 |
missense |
probably damaging |
0.96 |
|
R7308:Nsd3
|
UTSW |
8 |
25640724 |
missense |
probably damaging |
1.00 |
|
R7678:Nsd3
|
UTSW |
8 |
25659817 |
missense |
possibly damaging |
0.82 |
|
R7717:Nsd3
|
UTSW |
8 |
25682562 |
missense |
probably benign |
|
|
R8064:Nsd3
|
UTSW |
8 |
25700670 |
nonsense |
probably null |
|
|
R8242:Nsd3
|
UTSW |
8 |
25706539 |
nonsense |
probably null |
|
|
R8312:Nsd3
|
UTSW |
8 |
25663252 |
missense |
probably damaging |
1.00 |
|
R8547:Nsd3
|
UTSW |
8 |
25694784 |
missense |
probably damaging |
1.00 |
|
R8954:Nsd3
|
UTSW |
8 |
25673378 |
missense |
probably damaging |
1.00 |
|
R8995:Nsd3
|
UTSW |
8 |
25641153 |
missense |
probably damaging |
1.00 |
|
R9026:Nsd3
|
UTSW |
8 |
25682560 |
missense |
probably benign |
0.10 |
|
R9281:Nsd3
|
UTSW |
8 |
25662945 |
missense |
probably benign |
0.00 |
|
R9320:Nsd3
|
UTSW |
8 |
25709061 |
critical splice acceptor site |
probably null |
|
|
R9563:Nsd3
|
UTSW |
8 |
25714203 |
missense |
|
|
|
R9703:Nsd3
|
UTSW |
8 |
25641212 |
missense |
probably benign |
0.00 |
|
X0026:Nsd3
|
UTSW |
8 |
25700593 |
missense |
probably damaging |
1.00 |
|
Z1088:Nsd3
|
UTSW |
8 |
25641002 |
small deletion |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GACAACATCCCTGGGTTGAAGGAAG -3'
(R):5'- ATCCCATCAGGATAGGGAGAACCAC -3'
Sequencing Primer
(F):5'- CCTGGGTTGAAGGAAGGAAGG -3'
(R):5'- CAAATAGCCTTTAGACCTGTAGC -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation