Incidental Mutation 'R5957:Nsd2'
| ID |
471220 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nsd2
|
| Ensembl Gene |
ENSMUSG00000057406 |
| Gene Name |
nuclear receptor binding SET domain protein 2 |
| Synonyms |
5830445G22Rik, Whsc1, Whsc1l, C130020C13Rik, 9430010A17Rik, D030027O06Rik, D930023B08Rik |
| MMRRC Submission |
043246-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.780)
|
| Stock # |
R5957 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
33820725-33897975 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 33855603 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 407
(M407K)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058096]
[ENSMUST00000066854]
[ENSMUST00000075812]
[ENSMUST00000114397]
[ENSMUST00000114399]
[ENSMUST00000137191]
[ENSMUST00000139845]
|
| AlphaFold |
Q8BVE8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058096
AA Change: M426K
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000058940
Gene: ENSMUSG00000057406
AA Change: M426K
| 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
AA Change: M426K
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000067205
Gene: ENSMUSG00000057406
AA Change: M426K
| 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
AA Change: M426K
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000075210
Gene: ENSMUSG00000057406
AA Change: M426K
| 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: ENSMUST00000114397
AA Change: M426K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000110039
Gene: ENSMUSG00000057406
AA Change: M426K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
23 |
N/A |
INTRINSIC |
|
Pfam:PWWP
|
220 |
332 |
4.7e-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: ENSMUST00000114399
AA Change: M426K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000110041
Gene: ENSMUSG00000057406
AA Change: M426K
| 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: ENSMUST00000137191
AA Change: M426K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000122310
Gene: ENSMUSG00000057406
AA Change: M426K
| 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
AA Change: M426K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000123460
Gene: ENSMUSG00000057406
AA Change: M426K
| 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 damaging
Transcript: ENSMUST00000141416
AA Change: M407K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000117233
Gene: ENSMUSG00000057406
AA Change: M407K
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.0%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
G |
3: 138,070,161 |
T1704A |
probably benign |
Het |
| Adgrg7 |
T |
A |
16: 56,773,427 |
N142I |
probably damaging |
Het |
| Aldh18a1 |
A |
T |
19: 40,570,537 |
Y286* |
probably null |
Het |
| Armc4 |
T |
C |
18: 7,285,706 |
E219G |
probably benign |
Het |
| Arpp21 |
T |
C |
9: 112,185,686 |
T17A |
probably benign |
Het |
| Atp5s |
T |
C |
12: 69,743,784 |
V185A |
probably benign |
Het |
| Bnip2 |
T |
C |
9: 69,999,238 |
I147T |
probably damaging |
Het |
| Ccr8 |
T |
C |
9: 120,093,827 |
Y3H |
probably damaging |
Het |
| Cenps |
C |
A |
4: 149,130,201 |
|
probably benign |
Het |
| Cul7 |
G |
A |
17: 46,657,757 |
G553S |
probably damaging |
Het |
| Cyp21a1 |
A |
G |
17: 34,803,176 |
I206T |
probably benign |
Het |
| Dennd4b |
A |
G |
3: 90,270,965 |
D488G |
probably damaging |
Het |
| Dip2b |
T |
C |
15: 100,209,694 |
L1195P |
probably benign |
Het |
| Dock5 |
T |
A |
14: 67,857,994 |
H77L |
probably benign |
Het |
| Fbxw13 |
C |
T |
9: 109,192,666 |
|
probably null |
Het |
| Fmnl3 |
G |
A |
15: 99,325,910 |
R302W |
probably damaging |
Het |
| Gbf1 |
G |
T |
19: 46,246,221 |
|
probably null |
Het |
| Gm12794 |
T |
C |
4: 101,941,701 |
F290L |
probably benign |
Het |
| Gm4846 |
T |
C |
1: 166,486,953 |
I374V |
probably benign |
Het |
| Gsk3b |
C |
A |
16: 38,193,953 |
P258T |
probably damaging |
Het |
| Igsf5 |
T |
C |
16: 96,364,049 |
V8A |
probably benign |
Het |
| Il22 |
T |
A |
10: 118,205,166 |
L59Q |
probably damaging |
Het |
| Ildr1 |
T |
C |
16: 36,725,534 |
*517Q |
probably null |
Het |
| Iqca |
T |
A |
1: 90,080,948 |
D450V |
probably damaging |
Het |
| Itga5 |
T |
C |
15: 103,351,429 |
D647G |
probably benign |
Het |
| Myh7 |
T |
G |
14: 54,989,078 |
N408T |
probably damaging |
Het |
| Mylk3 |
T |
C |
8: 85,328,637 |
M564V |
probably damaging |
Het |
| Oprd1 |
C |
T |
4: 132,144,163 |
V75I |
probably benign |
Het |
| Poli |
G |
A |
18: 70,517,440 |
H310Y |
probably benign |
Het |
| Ptch1 |
C |
T |
13: 63,525,115 |
R755H |
probably damaging |
Het |
| Pygl |
A |
T |
12: 70,199,720 |
M351K |
probably damaging |
Het |
| Serpinb9b |
T |
C |
13: 33,039,848 |
L341P |
possibly damaging |
Het |
| Slc47a1 |
A |
G |
11: 61,344,342 |
V555A |
probably benign |
Het |
| Slc8a2 |
C |
A |
7: 16,145,284 |
T565K |
possibly damaging |
Het |
| Snx14 |
T |
C |
9: 88,403,274 |
I446V |
possibly damaging |
Het |
| Syde1 |
T |
C |
10: 78,590,117 |
Y72C |
probably damaging |
Het |
| Trim37 |
C |
T |
11: 87,145,551 |
R138C |
probably damaging |
Het |
| Tubgcp5 |
T |
A |
7: 55,814,962 |
S530R |
probably benign |
Het |
| Vps13c |
T |
C |
9: 67,954,971 |
S2957P |
probably damaging |
Het |
| Wdr41 |
T |
C |
13: 94,997,187 |
|
probably null |
Het |
| Zyg11b |
T |
C |
4: 108,245,013 |
K504E |
probably damaging |
Het |
|
| Other mutations in Nsd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00391:Nsd2
|
APN |
5 |
33855733 |
missense |
probably damaging |
1.00 |
|
IGL00420:Nsd2
|
APN |
5 |
33883003 |
missense |
possibly damaging |
0.82 |
|
IGL01343:Nsd2
|
APN |
5 |
33843578 |
missense |
probably damaging |
1.00 |
|
IGL01403:Nsd2
|
APN |
5 |
33885378 |
splice site |
probably benign |
|
|
IGL01446:Nsd2
|
APN |
5 |
33861186 |
splice site |
probably benign |
|
|
IGL01571:Nsd2
|
APN |
5 |
33864687 |
missense |
probably benign |
0.32 |
|
IGL01862:Nsd2
|
APN |
5 |
33843736 |
missense |
probably null |
1.00 |
|
IGL02040:Nsd2
|
APN |
5 |
33867571 |
splice site |
probably benign |
|
|
IGL02528:Nsd2
|
APN |
5 |
33879051 |
unclassified |
probably benign |
|
|
IGL02553:Nsd2
|
APN |
5 |
33846198 |
missense |
probably damaging |
1.00 |
|
IGL02799:Nsd2
|
APN |
5 |
33864788 |
splice site |
probably benign |
|
|
IGL02932:Nsd2
|
APN |
5 |
33880128 |
missense |
probably damaging |
1.00 |
|
Badminton
|
UTSW |
5 |
33882147 |
nonsense |
probably null |
|
|
Game
|
UTSW |
5 |
33885472 |
missense |
probably damaging |
1.00 |
|
Match
|
UTSW |
5 |
33879110 |
missense |
probably damaging |
1.00 |
|
Navratilova
|
UTSW |
5 |
33885490 |
missense |
probably damaging |
0.97 |
|
Racquet
|
UTSW |
5 |
33882845 |
missense |
probably damaging |
1.00 |
|
serve
|
UTSW |
5 |
33879111 |
missense |
possibly damaging |
0.95 |
|
Tennis
|
UTSW |
5 |
33843513 |
missense |
probably damaging |
1.00 |
|
R0136:Nsd2
|
UTSW |
5 |
33855536 |
missense |
possibly damaging |
0.89 |
|
R0372:Nsd2
|
UTSW |
5 |
33891551 |
missense |
probably damaging |
0.98 |
|
R0521:Nsd2
|
UTSW |
5 |
33843338 |
missense |
probably damaging |
1.00 |
|
R0548:Nsd2
|
UTSW |
5 |
33893538 |
missense |
probably damaging |
1.00 |
|
R0726:Nsd2
|
UTSW |
5 |
33861028 |
unclassified |
probably benign |
|
|
R1018:Nsd2
|
UTSW |
5 |
33843241 |
missense |
probably damaging |
1.00 |
|
R1638:Nsd2
|
UTSW |
5 |
33882120 |
missense |
possibly damaging |
0.87 |
|
R1649:Nsd2
|
UTSW |
5 |
33854640 |
missense |
probably damaging |
0.98 |
|
R1675:Nsd2
|
UTSW |
5 |
33861149 |
missense |
probably benign |
0.04 |
|
R1900:Nsd2
|
UTSW |
5 |
33846169 |
missense |
probably benign |
|
|
R2001:Nsd2
|
UTSW |
5 |
33843402 |
missense |
probably damaging |
1.00 |
|
R2167:Nsd2
|
UTSW |
5 |
33882919 |
missense |
probably damaging |
1.00 |
|
R2261:Nsd2
|
UTSW |
5 |
33885527 |
missense |
probably damaging |
1.00 |
|
R2966:Nsd2
|
UTSW |
5 |
33846122 |
missense |
probably benign |
0.01 |
|
R3931:Nsd2
|
UTSW |
5 |
33846117 |
missense |
probably benign |
0.01 |
|
R4429:Nsd2
|
UTSW |
5 |
33843202 |
missense |
probably damaging |
1.00 |
|
R4596:Nsd2
|
UTSW |
5 |
33882918 |
missense |
probably damaging |
1.00 |
|
R4958:Nsd2
|
UTSW |
5 |
33892022 |
missense |
probably damaging |
1.00 |
|
R5346:Nsd2
|
UTSW |
5 |
33879136 |
missense |
possibly damaging |
0.94 |
|
R6054:Nsd2
|
UTSW |
5 |
33882161 |
missense |
probably damaging |
1.00 |
|
R6124:Nsd2
|
UTSW |
5 |
33843266 |
missense |
probably benign |
0.08 |
|
R6302:Nsd2
|
UTSW |
5 |
33867577 |
missense |
possibly damaging |
0.93 |
|
R6390:Nsd2
|
UTSW |
5 |
33881181 |
missense |
probably damaging |
1.00 |
|
R6496:Nsd2
|
UTSW |
5 |
33843513 |
missense |
probably damaging |
1.00 |
|
R6828:Nsd2
|
UTSW |
5 |
33893568 |
missense |
probably damaging |
0.98 |
|
R6925:Nsd2
|
UTSW |
5 |
33879110 |
missense |
probably damaging |
1.00 |
|
R7148:Nsd2
|
UTSW |
5 |
33885511 |
missense |
possibly damaging |
0.57 |
|
R7311:Nsd2
|
UTSW |
5 |
33892036 |
missense |
probably damaging |
1.00 |
|
R7337:Nsd2
|
UTSW |
5 |
33885472 |
missense |
probably damaging |
1.00 |
|
R7466:Nsd2
|
UTSW |
5 |
33882147 |
nonsense |
probably null |
|
|
R7567:Nsd2
|
UTSW |
5 |
33846226 |
missense |
probably damaging |
0.99 |
|
R7704:Nsd2
|
UTSW |
5 |
33871467 |
makesense |
probably null |
|
|
R7822:Nsd2
|
UTSW |
5 |
33843594 |
missense |
probably damaging |
0.97 |
|
R7939:Nsd2
|
UTSW |
5 |
33855589 |
missense |
probably benign |
0.22 |
|
R8127:Nsd2
|
UTSW |
5 |
33885490 |
missense |
probably damaging |
0.97 |
|
R8485:Nsd2
|
UTSW |
5 |
33882845 |
missense |
probably damaging |
1.00 |
|
R8782:Nsd2
|
UTSW |
5 |
33843141 |
start codon destroyed |
probably benign |
|
|
R8783:Nsd2
|
UTSW |
5 |
33879111 |
missense |
possibly damaging |
0.95 |
|
R8845:Nsd2
|
UTSW |
5 |
33882541 |
missense |
probably damaging |
1.00 |
|
R9034:Nsd2
|
UTSW |
5 |
33880134 |
missense |
possibly damaging |
0.92 |
|
R9183:Nsd2
|
UTSW |
5 |
33871452 |
missense |
probably damaging |
0.99 |
|
R9283:Nsd2
|
UTSW |
5 |
33843714 |
missense |
probably benign |
0.34 |
|
R9438:Nsd2
|
UTSW |
5 |
33843288 |
missense |
probably damaging |
0.99 |
|
R9486:Nsd2
|
UTSW |
5 |
33861149 |
missense |
probably benign |
0.04 |
|
R9792:Nsd2
|
UTSW |
5 |
33846145 |
missense |
possibly damaging |
0.89 |
|
R9793:Nsd2
|
UTSW |
5 |
33846145 |
missense |
possibly damaging |
0.89 |
|
R9795:Nsd2
|
UTSW |
5 |
33846145 |
missense |
possibly damaging |
0.89 |
|
X0020:Nsd2
|
UTSW |
5 |
33854757 |
missense |
probably damaging |
1.00 |
|
Z1088:Nsd2
|
UTSW |
5 |
33855738 |
critical splice donor site |
probably null |
|
|
Z1177:Nsd2
|
UTSW |
5 |
33855520 |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCATTGTTACAGAACCTTTGGG -3'
(R):5'- AGGATTCTGCAGAGGGACATTC -3'
Sequencing Primer
(F):5'- ACCTTTGGGAGAAATGGTGGACTC -3'
(R):5'- TGGAAATCCTGTGGCATGAC -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation