Incidental Mutation 'R4741:Nsd3'
ID |
358084 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nsd3
|
Ensembl Gene |
ENSMUSG00000054823 |
Gene Name |
nuclear receptor binding SET domain protein 3 |
Synonyms |
Whsc1l1, WHISTLE |
MMRRC Submission |
042026-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.361)
|
Stock # |
R4741 (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 T
at 26163382 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 591
(I591F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117596
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084026]
[ENSMUST00000136107]
[ENSMUST00000139966]
[ENSMUST00000142395]
[ENSMUST00000146919]
[ENSMUST00000155861]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000084026
AA Change: I591F
PolyPhen 2
Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000081040 Gene: ENSMUSG00000054823 AA Change: I591F
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: ENSMUST00000136107
AA Change: I591F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000139966
AA Change: I591F
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000122096 Gene: ENSMUSG00000054823 AA Change: I591F
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: I591F
PolyPhen 2
Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000117778 Gene: ENSMUSG00000054823 AA Change: I591F
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: ENSMUST00000146919
AA Change: I591F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000115470 Gene: ENSMUSG00000054823 AA Change: I591F
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 damaging
Transcript: ENSMUST00000155861
AA Change: I591F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000117596 Gene: ENSMUSG00000054823 AA Change: I591F
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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.1%
|
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 |
Angptl2 |
T |
C |
2: 33,136,200 (GRCm39) |
Y462H |
probably benign |
Het |
Arhgef12 |
A |
G |
9: 42,883,449 (GRCm39) |
I1360T |
possibly damaging |
Het |
Armc10 |
T |
G |
5: 21,856,834 (GRCm39) |
L111R |
probably damaging |
Het |
Atm |
T |
C |
9: 53,364,907 (GRCm39) |
K2628E |
probably benign |
Het |
Best3 |
A |
T |
10: 116,859,901 (GRCm39) |
N387I |
probably benign |
Het |
Bltp1 |
A |
G |
3: 36,996,524 (GRCm39) |
T1079A |
probably damaging |
Het |
Brpf3 |
T |
C |
17: 29,036,758 (GRCm39) |
F721S |
possibly damaging |
Het |
Cacna1c |
A |
G |
6: 118,590,271 (GRCm39) |
S1411P |
probably damaging |
Het |
Cldn8 |
G |
A |
16: 88,359,296 (GRCm39) |
H210Y |
probably benign |
Het |
Clip2 |
T |
A |
5: 134,545,123 (GRCm39) |
T344S |
probably benign |
Het |
Csmd1 |
A |
C |
8: 15,960,447 (GRCm39) |
W3323G |
probably damaging |
Het |
Doc2a |
A |
T |
7: 126,450,617 (GRCm39) |
T298S |
possibly damaging |
Het |
Dpp9 |
T |
C |
17: 56,512,286 (GRCm39) |
N234S |
probably benign |
Het |
Dtx2 |
C |
T |
5: 136,055,371 (GRCm39) |
R353C |
probably benign |
Het |
Epm2aip1 |
A |
G |
9: 111,101,681 (GRCm39) |
H218R |
probably benign |
Het |
F2rl1 |
G |
A |
13: 95,650,651 (GRCm39) |
T77M |
probably damaging |
Het |
Fsd2 |
A |
G |
7: 81,201,643 (GRCm39) |
|
probably null |
Het |
Grin2a |
T |
C |
16: 9,481,376 (GRCm39) |
Y475C |
probably damaging |
Het |
H2-Ob |
T |
A |
17: 34,461,545 (GRCm39) |
S95T |
possibly damaging |
Het |
Hddc3 |
A |
G |
7: 79,995,464 (GRCm39) |
T160A |
probably benign |
Het |
Hp |
A |
T |
8: 110,302,104 (GRCm39) |
C281* |
probably null |
Het |
Ighg1 |
T |
C |
12: 113,290,178 (GRCm39) |
|
probably benign |
Het |
Ints7 |
A |
G |
1: 191,351,747 (GRCm39) |
I819V |
probably benign |
Het |
Jam2 |
G |
A |
16: 84,609,840 (GRCm39) |
V151M |
probably damaging |
Het |
Jmjd1c |
A |
G |
10: 67,060,718 (GRCm39) |
I737V |
possibly damaging |
Het |
Krt74 |
C |
T |
15: 101,669,876 (GRCm39) |
|
noncoding transcript |
Het |
Lnpep |
T |
C |
17: 17,791,920 (GRCm39) |
Y407C |
probably damaging |
Het |
Lrp4 |
T |
G |
2: 91,341,912 (GRCm39) |
C1842G |
probably damaging |
Het |
Mug2 |
T |
A |
6: 122,056,572 (GRCm39) |
N1172K |
probably benign |
Het |
Npy6r |
A |
T |
18: 44,408,791 (GRCm39) |
T71S |
probably damaging |
Het |
Oog2 |
A |
C |
4: 143,921,715 (GRCm39) |
E208D |
possibly damaging |
Het |
Otogl |
A |
G |
10: 107,615,121 (GRCm39) |
I1928T |
probably benign |
Het |
Papss1 |
T |
C |
3: 131,324,860 (GRCm39) |
L418P |
probably damaging |
Het |
Pcdhb13 |
T |
A |
18: 37,576,571 (GRCm39) |
D316E |
probably benign |
Het |
Pcdhgb2 |
T |
A |
18: 37,824,737 (GRCm39) |
|
probably null |
Het |
Ptcd3 |
T |
A |
6: 71,879,933 (GRCm39) |
L108F |
probably damaging |
Het |
Ralgps1 |
T |
C |
2: 33,226,599 (GRCm39) |
S31G |
probably benign |
Het |
Rnf225 |
A |
T |
7: 12,661,857 (GRCm39) |
H12L |
probably benign |
Het |
Ryr3 |
T |
A |
2: 112,633,613 (GRCm39) |
M2047L |
probably damaging |
Het |
Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
Serpinb3b |
G |
T |
1: 107,082,200 (GRCm39) |
Q355K |
probably benign |
Het |
Slc8a2 |
T |
A |
7: 15,868,233 (GRCm39) |
F155Y |
probably damaging |
Het |
Taf1c |
A |
G |
8: 120,330,134 (GRCm39) |
|
probably benign |
Het |
Tln2 |
A |
G |
9: 67,293,837 (GRCm39) |
|
probably null |
Het |
Tmpo |
A |
G |
10: 90,998,506 (GRCm39) |
V427A |
probably benign |
Het |
Vmn1r17 |
A |
T |
6: 57,338,337 (GRCm39) |
Y9* |
probably null |
Het |
Vmn2r63 |
C |
T |
7: 42,577,544 (GRCm39) |
M331I |
probably benign |
Het |
Zdhhc1 |
CGGGGG |
CGGGGGG |
8: 106,210,376 (GRCm39) |
|
probably null |
Het |
Zfand5 |
C |
T |
19: 21,253,845 (GRCm39) |
T16I |
probably damaging |
Het |
Zfp352 |
A |
T |
4: 90,113,177 (GRCm39) |
K439M |
possibly damaging |
Het |
Zfp786 |
G |
A |
6: 47,797,625 (GRCm39) |
H438Y |
probably damaging |
Het |
Zfp808 |
T |
A |
13: 62,319,763 (GRCm39) |
C331S |
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 |
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 |
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'- AGCTTAGTCACGACTTTTAGGAGC -3'
(R):5'- ACAGCGGTTTGAGAAGTCGC -3'
Sequencing Primer
(F):5'- AGTCTGGTCGGATCGTAA -3'
(R):5'- TTTGAGAAGTCGCCACCG -3'
|
Posted On |
2015-11-11 |