Incidental Mutation 'IGL01403:Nsd2'
| ID |
79731 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nsd2
|
| Ensembl Gene |
ENSMUSG00000057406 |
| Gene Name |
nuclear receptor binding SET domain protein 2 |
| Synonyms |
9430010A17Rik, 5830445G22Rik, D030027O06Rik, D930023B08Rik, C130020C13Rik, Whsc1, Whsc1l |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.809)
|
| Stock # |
IGL01403
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
33978069-34055319 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 34042722 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144255
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058096]
[ENSMUST00000066854]
[ENSMUST00000075812]
[ENSMUST00000137191]
[ENSMUST00000139845]
[ENSMUST00000202525]
|
| AlphaFold |
Q8BVE8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058096
|
| SMART Domains |
Protein: ENSMUSP00000058940
Gene: ENSMUSG00000057406
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
23 |
N/A |
INTRINSIC |
|
PWWP
|
220 |
285 |
3.84e-15 |
SMART |
|
low complexity region
|
397 |
408 |
N/A |
INTRINSIC |
|
HMG
|
452 |
522 |
7.64e-9 |
SMART |
|
low complexity region
|
532 |
545 |
N/A |
INTRINSIC |
|
low complexity region
|
629 |
643 |
N/A |
INTRINSIC |
|
PHD
|
669 |
711 |
1.36e-6 |
SMART |
|
RING
|
670 |
710 |
1.5e1 |
SMART |
|
PHD
|
716 |
763 |
6.81e-1 |
SMART |
|
RING
|
717 |
762 |
5.25e-2 |
SMART |
|
PHD
|
833 |
873 |
2.35e-10 |
SMART |
|
PWWP
|
878 |
940 |
2.67e-23 |
SMART |
|
AWS
|
1011 |
1062 |
3.74e-27 |
SMART |
|
SET
|
1063 |
1186 |
4.48e-43 |
SMART |
|
PostSET
|
1187 |
1203 |
7.56e-4 |
SMART |
|
low complexity region
|
1215 |
1236 |
N/A |
INTRINSIC |
|
PHD
|
1241 |
1284 |
1.98e-8 |
SMART |
|
low complexity region
|
1347 |
1360 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066854
|
| SMART Domains |
Protein: ENSMUSP00000067205
Gene: ENSMUSG00000057406
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
23 |
N/A |
INTRINSIC |
|
PWWP
|
220 |
285 |
3.84e-15 |
SMART |
|
low complexity region
|
397 |
408 |
N/A |
INTRINSIC |
|
HMG
|
452 |
522 |
7.64e-9 |
SMART |
|
low complexity region
|
532 |
545 |
N/A |
INTRINSIC |
|
low complexity region
|
630 |
644 |
N/A |
INTRINSIC |
|
PHD
|
670 |
712 |
1.36e-6 |
SMART |
|
RING
|
671 |
711 |
1.5e1 |
SMART |
|
PHD
|
717 |
764 |
6.81e-1 |
SMART |
|
RING
|
718 |
763 |
5.25e-2 |
SMART |
|
PHD
|
834 |
874 |
2.35e-10 |
SMART |
|
PWWP
|
879 |
941 |
2.67e-23 |
SMART |
|
AWS
|
1012 |
1063 |
3.74e-27 |
SMART |
|
SET
|
1064 |
1187 |
4.48e-43 |
SMART |
|
PostSET
|
1188 |
1204 |
7.56e-4 |
SMART |
|
low complexity region
|
1216 |
1237 |
N/A |
INTRINSIC |
|
PHD
|
1242 |
1285 |
1.98e-8 |
SMART |
|
low complexity region
|
1348 |
1361 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075812
|
| SMART Domains |
Protein: ENSMUSP00000075210
Gene: ENSMUSG00000057406
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
23 |
N/A |
INTRINSIC |
|
PWWP
|
220 |
285 |
3.84e-15 |
SMART |
|
low complexity region
|
397 |
408 |
N/A |
INTRINSIC |
|
HMG
|
452 |
522 |
7.64e-9 |
SMART |
|
low complexity region
|
532 |
545 |
N/A |
INTRINSIC |
|
low complexity region
|
630 |
644 |
N/A |
INTRINSIC |
|
PHD
|
670 |
712 |
1.36e-6 |
SMART |
|
RING
|
671 |
711 |
1.5e1 |
SMART |
|
PHD
|
717 |
764 |
6.81e-1 |
SMART |
|
RING
|
718 |
763 |
5.25e-2 |
SMART |
|
PHD
|
834 |
874 |
2.35e-10 |
SMART |
|
PWWP
|
879 |
941 |
2.67e-23 |
SMART |
|
AWS
|
1012 |
1063 |
3.74e-27 |
SMART |
|
SET
|
1064 |
1187 |
4.48e-43 |
SMART |
|
PostSET
|
1188 |
1204 |
7.56e-4 |
SMART |
|
low complexity region
|
1216 |
1237 |
N/A |
INTRINSIC |
|
PHD
|
1242 |
1285 |
1.98e-8 |
SMART |
|
low complexity region
|
1348 |
1361 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133870
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137191
|
| SMART Domains |
Protein: ENSMUSP00000122310
Gene: ENSMUSG00000057406
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
23 |
N/A |
INTRINSIC |
|
Pfam:PWWP
|
220 |
332 |
4.9e-26 |
PFAM |
|
low complexity region
|
397 |
408 |
N/A |
INTRINSIC |
|
HMG
|
452 |
522 |
7.64e-9 |
SMART |
|
low complexity region
|
532 |
545 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139845
|
| SMART Domains |
Protein: ENSMUSP00000123460
Gene: ENSMUSG00000057406
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
23 |
N/A |
INTRINSIC |
|
Pfam:PWWP
|
220 |
332 |
4.9e-26 |
PFAM |
|
low complexity region
|
397 |
408 |
N/A |
INTRINSIC |
|
HMG
|
452 |
522 |
7.64e-9 |
SMART |
|
low complexity region
|
532 |
545 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141416
|
| SMART Domains |
Protein: ENSMUSP00000117233
Gene: ENSMUSG00000057406
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PWWP
|
202 |
314 |
1.1e-25 |
PFAM |
|
low complexity region
|
379 |
390 |
N/A |
INTRINSIC |
|
HMG
|
434 |
504 |
4.7e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202525
|
| SMART Domains |
Protein: ENSMUSP00000144255
Gene: ENSMUSG00000057406
| Domain | Start | End | E-Value | Type |
|---|
|
PHD
|
11 |
53 |
8.5e-9 |
SMART |
|
RING
|
12 |
52 |
7.3e-2 |
SMART |
|
PHD
|
58 |
105 |
4.4e-3 |
SMART |
|
RING
|
59 |
104 |
2.6e-4 |
SMART |
|
PHD
|
175 |
215 |
1.5e-12 |
SMART |
|
low complexity region
|
248 |
259 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200981
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains four domains present in other developmental proteins: a PWWP domain, an HMG box, a SET domain, and a PHD-type zinc finger. It is expressed ubiquitously in early development. Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4. This gene maps to the 165 kb WHS critical region and has also been involved in the chromosomal translocation t(4;14)(p16.3;q32.3) in multiple myelomas. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. Some transcript variants are nonsense-mediated mRNA (NMD) decay candidates, hence not represented as reference sequences. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display reduced fetal size, failed sternum ossification, cleft palate, atrial and ventricular septal defects, stunted growth and postnatal death. Some heterozygotes show severe growth defects, malocclusion, delayed sternum ossification and hypoplasia of the septum secundum. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
A |
T |
12: 118,836,602 (GRCm39) |
L1103Q |
probably damaging |
Het |
| Adam12 |
T |
A |
7: 133,521,339 (GRCm39) |
Q605L |
probably benign |
Het |
| Adk |
A |
G |
14: 21,284,983 (GRCm39) |
K102R |
probably damaging |
Het |
| Afdn |
C |
T |
17: 14,124,132 (GRCm39) |
P1761S |
probably damaging |
Het |
| Ascc1 |
A |
G |
10: 59,848,280 (GRCm39) |
|
probably benign |
Het |
| Aspdh |
A |
G |
7: 44,115,983 (GRCm39) |
|
probably null |
Het |
| Bbx |
T |
C |
16: 50,022,876 (GRCm39) |
I753V |
probably benign |
Het |
| Ccdc33 |
T |
C |
9: 58,024,668 (GRCm39) |
Y186C |
probably damaging |
Het |
| Ccdc78 |
T |
A |
17: 26,007,218 (GRCm39) |
|
probably null |
Het |
| Ckmt1 |
T |
C |
2: 121,193,447 (GRCm39) |
|
probably benign |
Het |
| Csf1r |
A |
G |
18: 61,247,897 (GRCm39) |
T322A |
probably benign |
Het |
| Dnah7b |
T |
C |
1: 46,155,460 (GRCm39) |
|
probably benign |
Het |
| Dr1 |
A |
G |
5: 108,417,576 (GRCm39) |
N41D |
possibly damaging |
Het |
| Ehmt1 |
G |
A |
2: 24,729,638 (GRCm39) |
T633I |
possibly damaging |
Het |
| Fgf7 |
T |
A |
2: 125,877,860 (GRCm39) |
Y76N |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,468,848 (GRCm39) |
W5038R |
probably damaging |
Het |
| Ighv14-1 |
A |
G |
12: 113,895,862 (GRCm39) |
V21A |
probably damaging |
Het |
| Igkv5-37 |
T |
A |
6: 69,940,420 (GRCm39) |
I75F |
probably damaging |
Het |
| Inhbc |
T |
A |
10: 127,205,968 (GRCm39) |
I100F |
probably damaging |
Het |
| Irs3 |
A |
G |
5: 137,643,581 (GRCm39) |
F68L |
probably damaging |
Het |
| Itpr3 |
T |
A |
17: 27,337,569 (GRCm39) |
C2460S |
probably damaging |
Het |
| Krt34 |
A |
G |
11: 99,929,116 (GRCm39) |
C365R |
possibly damaging |
Het |
| Krt81 |
G |
A |
15: 101,361,269 (GRCm39) |
H104Y |
probably benign |
Het |
| Ly6g |
A |
G |
15: 75,030,497 (GRCm39) |
N82S |
probably damaging |
Het |
| Mrpl58 |
A |
T |
11: 115,297,404 (GRCm39) |
I72F |
probably damaging |
Het |
| Myo9a |
G |
A |
9: 59,778,846 (GRCm39) |
R1534H |
probably damaging |
Het |
| Npat |
T |
A |
9: 53,466,429 (GRCm39) |
F239L |
probably benign |
Het |
| Nuggc |
T |
C |
14: 65,860,635 (GRCm39) |
V427A |
probably benign |
Het |
| Or52b1 |
G |
A |
7: 104,978,605 (GRCm39) |
R265C |
probably benign |
Het |
| Or5p55 |
A |
G |
7: 107,566,828 (GRCm39) |
T75A |
possibly damaging |
Het |
| Pde4a |
A |
T |
9: 21,116,412 (GRCm39) |
I467F |
probably damaging |
Het |
| Pkhd1l1 |
T |
A |
15: 44,347,229 (GRCm39) |
C198* |
probably null |
Het |
| Pla2r1 |
A |
G |
2: 60,254,632 (GRCm39) |
V1312A |
probably damaging |
Het |
| Pola2 |
T |
C |
19: 6,009,121 (GRCm39) |
H79R |
probably benign |
Het |
| Potefam1 |
T |
C |
2: 111,059,515 (GRCm39) |
|
probably benign |
Het |
| Pramel15 |
A |
T |
4: 144,103,703 (GRCm39) |
M141K |
probably benign |
Het |
| Psen2 |
A |
T |
1: 180,062,548 (GRCm39) |
|
probably benign |
Het |
| Rnf213 |
A |
G |
11: 119,334,126 (GRCm39) |
K3112E |
probably damaging |
Het |
| Slc6a4 |
G |
T |
11: 76,922,498 (GRCm39) |
V630L |
probably benign |
Het |
| Smg1 |
A |
T |
7: 117,757,355 (GRCm39) |
|
probably benign |
Het |
| Tmc8 |
A |
G |
11: 117,681,900 (GRCm39) |
T510A |
possibly damaging |
Het |
| Usp18 |
T |
A |
6: 121,245,627 (GRCm39) |
H334Q |
possibly damaging |
Het |
| Vmn2r103 |
T |
C |
17: 20,013,229 (GRCm39) |
Y117H |
probably benign |
Het |
| Vps13b |
T |
A |
15: 35,709,625 (GRCm39) |
D1857E |
probably benign |
Het |
|
| Other mutations in Nsd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00391:Nsd2
|
APN |
5 |
34,013,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00420:Nsd2
|
APN |
5 |
34,040,347 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL01343:Nsd2
|
APN |
5 |
34,000,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01446:Nsd2
|
APN |
5 |
34,018,530 (GRCm39) |
splice site |
probably benign |
|
|
IGL01571:Nsd2
|
APN |
5 |
34,022,031 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL01862:Nsd2
|
APN |
5 |
34,001,080 (GRCm39) |
missense |
probably null |
1.00 |
|
IGL02040:Nsd2
|
APN |
5 |
34,024,915 (GRCm39) |
splice site |
probably benign |
|
|
IGL02528:Nsd2
|
APN |
5 |
34,036,395 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02553:Nsd2
|
APN |
5 |
34,003,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02799:Nsd2
|
APN |
5 |
34,022,132 (GRCm39) |
splice site |
probably benign |
|
|
IGL02932:Nsd2
|
APN |
5 |
34,037,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Badminton
|
UTSW |
5 |
34,039,491 (GRCm39) |
nonsense |
probably null |
|
|
Game
|
UTSW |
5 |
34,042,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Match
|
UTSW |
5 |
34,036,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Navratilova
|
UTSW |
5 |
34,042,834 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Racquet
|
UTSW |
5 |
34,040,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
serve
|
UTSW |
5 |
34,036,455 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Tennis
|
UTSW |
5 |
34,000,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0136:Nsd2
|
UTSW |
5 |
34,012,880 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0372:Nsd2
|
UTSW |
5 |
34,048,895 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0521:Nsd2
|
UTSW |
5 |
34,000,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0548:Nsd2
|
UTSW |
5 |
34,050,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0726:Nsd2
|
UTSW |
5 |
34,018,372 (GRCm39) |
unclassified |
probably benign |
|
|
R1018:Nsd2
|
UTSW |
5 |
34,000,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1638:Nsd2
|
UTSW |
5 |
34,039,464 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1649:Nsd2
|
UTSW |
5 |
34,011,984 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1675:Nsd2
|
UTSW |
5 |
34,018,493 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1900:Nsd2
|
UTSW |
5 |
34,003,513 (GRCm39) |
missense |
probably benign |
|
|
R2001:Nsd2
|
UTSW |
5 |
34,000,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2167:Nsd2
|
UTSW |
5 |
34,040,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2261:Nsd2
|
UTSW |
5 |
34,042,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2966:Nsd2
|
UTSW |
5 |
34,003,466 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3931:Nsd2
|
UTSW |
5 |
34,003,461 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4429:Nsd2
|
UTSW |
5 |
34,000,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4596:Nsd2
|
UTSW |
5 |
34,040,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4958:Nsd2
|
UTSW |
5 |
34,049,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5346:Nsd2
|
UTSW |
5 |
34,036,480 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5957:Nsd2
|
UTSW |
5 |
34,012,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6054:Nsd2
|
UTSW |
5 |
34,039,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6124:Nsd2
|
UTSW |
5 |
34,000,610 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6302:Nsd2
|
UTSW |
5 |
34,024,921 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6390:Nsd2
|
UTSW |
5 |
34,038,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6496:Nsd2
|
UTSW |
5 |
34,000,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6828:Nsd2
|
UTSW |
5 |
34,050,912 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6925:Nsd2
|
UTSW |
5 |
34,036,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7148:Nsd2
|
UTSW |
5 |
34,042,855 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R7311:Nsd2
|
UTSW |
5 |
34,049,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7337:Nsd2
|
UTSW |
5 |
34,042,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7466:Nsd2
|
UTSW |
5 |
34,039,491 (GRCm39) |
nonsense |
probably null |
|
|
R7567:Nsd2
|
UTSW |
5 |
34,003,570 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7704:Nsd2
|
UTSW |
5 |
34,028,811 (GRCm39) |
makesense |
probably null |
|
|
R7822:Nsd2
|
UTSW |
5 |
34,000,938 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7939:Nsd2
|
UTSW |
5 |
34,012,933 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8127:Nsd2
|
UTSW |
5 |
34,042,834 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8485:Nsd2
|
UTSW |
5 |
34,040,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8782:Nsd2
|
UTSW |
5 |
34,000,485 (GRCm39) |
start codon destroyed |
probably benign |
|
|
R8783:Nsd2
|
UTSW |
5 |
34,036,455 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8845:Nsd2
|
UTSW |
5 |
34,039,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9034:Nsd2
|
UTSW |
5 |
34,037,478 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9183:Nsd2
|
UTSW |
5 |
34,028,796 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9283:Nsd2
|
UTSW |
5 |
34,001,058 (GRCm39) |
missense |
probably benign |
0.34 |
|
R9438:Nsd2
|
UTSW |
5 |
34,000,632 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9486:Nsd2
|
UTSW |
5 |
34,018,493 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9792:Nsd2
|
UTSW |
5 |
34,003,489 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9793:Nsd2
|
UTSW |
5 |
34,003,489 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9795:Nsd2
|
UTSW |
5 |
34,003,489 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
X0020:Nsd2
|
UTSW |
5 |
34,012,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Nsd2
|
UTSW |
5 |
34,013,082 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1177:Nsd2
|
UTSW |
5 |
34,012,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-11-05 |
Incidental Mutation