Incidental Mutation 'IGL00330:Pwwp3b'
| ID |
5636 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pwwp3b
|
| Ensembl Gene |
ENSMUSG00000042515 |
| Gene Name |
PWWP domain containing 3B |
| Synonyms |
Mum1l1, 9430086K21Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
IGL00330
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
X |
| Chromosomal Location |
138110791-138139084 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 138136443 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 327
(D327G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108668
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113041]
[ENSMUST00000113042]
[ENSMUST00000113043]
[ENSMUST00000113045]
[ENSMUST00000166444]
[ENSMUST00000169886]
[ENSMUST00000170671]
|
| AlphaFold |
Q4VA55 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113041
AA Change: D327G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000108664
Gene: ENSMUSG00000042515
AA Change: D327G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
195 |
205 |
N/A |
INTRINSIC |
|
low complexity region
|
320 |
334 |
N/A |
INTRINSIC |
|
low complexity region
|
341 |
363 |
N/A |
INTRINSIC |
|
SCOP:d1khca_
|
371 |
404 |
3e-3 |
SMART |
|
PDB:3PMI|D
|
371 |
502 |
7e-58 |
PDB |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113042
AA Change: D327G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000108665
Gene: ENSMUSG00000042515
AA Change: D327G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
195 |
205 |
N/A |
INTRINSIC |
|
low complexity region
|
320 |
334 |
N/A |
INTRINSIC |
|
low complexity region
|
341 |
363 |
N/A |
INTRINSIC |
|
SCOP:d1khca_
|
371 |
404 |
3e-3 |
SMART |
|
PDB:3PMI|D
|
371 |
502 |
7e-58 |
PDB |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113043
AA Change: D327G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000108666
Gene: ENSMUSG00000042515
AA Change: D327G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
195 |
205 |
N/A |
INTRINSIC |
|
low complexity region
|
320 |
334 |
N/A |
INTRINSIC |
|
low complexity region
|
341 |
363 |
N/A |
INTRINSIC |
|
SCOP:d1khca_
|
371 |
404 |
3e-3 |
SMART |
|
PDB:3PMI|D
|
371 |
502 |
7e-58 |
PDB |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113045
AA Change: D327G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000108668
Gene: ENSMUSG00000042515
AA Change: D327G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
195 |
205 |
N/A |
INTRINSIC |
|
low complexity region
|
320 |
334 |
N/A |
INTRINSIC |
|
low complexity region
|
341 |
363 |
N/A |
INTRINSIC |
|
SCOP:d1khca_
|
371 |
404 |
3e-3 |
SMART |
|
PDB:3PMI|D
|
371 |
502 |
7e-58 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126339
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166444
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169886
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170671
|
| 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 which contains a mutated melanoma-associated antigen 1 domain. Proteins which contain mutated antigens are expressed at high levels on certain types of cancers. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A130010J15Rik |
T |
G |
1: 192,857,087 (GRCm39) |
D146E |
probably benign |
Het |
| Alpi |
A |
T |
1: 87,027,442 (GRCm39) |
L308Q |
probably damaging |
Het |
| Bhmt2 |
A |
T |
13: 93,803,279 (GRCm39) |
|
probably benign |
Het |
| Bsn |
T |
C |
9: 107,992,539 (GRCm39) |
E1071G |
probably damaging |
Het |
| Car3 |
A |
T |
3: 14,933,439 (GRCm39) |
N128Y |
probably benign |
Het |
| Cdkl2 |
C |
T |
5: 92,165,236 (GRCm39) |
|
probably null |
Het |
| Cimip2b |
G |
A |
4: 43,428,158 (GRCm39) |
R100W |
possibly damaging |
Het |
| Cul9 |
T |
C |
17: 46,821,767 (GRCm39) |
|
probably benign |
Het |
| Gpr149 |
T |
G |
3: 62,438,094 (GRCm39) |
I688L |
probably damaging |
Het |
| Kcnq4 |
G |
A |
4: 120,555,213 (GRCm39) |
Q657* |
probably null |
Het |
| Kif14 |
G |
A |
1: 136,396,756 (GRCm39) |
S354N |
probably benign |
Het |
| Kif19a |
G |
A |
11: 114,670,411 (GRCm39) |
G107D |
probably damaging |
Het |
| Loxhd1 |
A |
C |
18: 77,483,146 (GRCm39) |
R1242S |
probably damaging |
Het |
| Ms4a6c |
T |
C |
19: 11,455,676 (GRCm39) |
Y162H |
probably benign |
Het |
| Msrb2 |
G |
T |
2: 19,376,510 (GRCm39) |
R6L |
unknown |
Het |
| Myh2 |
A |
G |
11: 67,084,266 (GRCm39) |
N1630D |
probably benign |
Het |
| Myrf |
A |
G |
19: 10,201,877 (GRCm39) |
V200A |
probably benign |
Het |
| Ncor2 |
A |
G |
5: 125,119,807 (GRCm39) |
|
probably null |
Het |
| Nrg1 |
T |
A |
8: 32,308,117 (GRCm39) |
Q621L |
probably damaging |
Het |
| Or11h6 |
G |
A |
14: 50,880,625 (GRCm39) |
A296T |
probably benign |
Het |
| Or5bw2 |
A |
T |
7: 6,573,667 (GRCm39) |
I226F |
possibly damaging |
Het |
| Pfkp |
A |
G |
13: 6,669,586 (GRCm39) |
F211S |
probably damaging |
Het |
| Pramex1 |
T |
C |
X: 134,515,258 (GRCm39) |
N273S |
probably benign |
Het |
| Prss1l |
T |
C |
6: 41,371,707 (GRCm39) |
L51P |
probably damaging |
Het |
| Rnh1 |
G |
A |
7: 140,746,644 (GRCm39) |
A49V |
possibly damaging |
Het |
| Serhl |
C |
T |
15: 82,988,574 (GRCm39) |
S167F |
probably benign |
Het |
| Skint1 |
T |
C |
4: 111,878,777 (GRCm39) |
|
probably null |
Het |
| Taar7b |
A |
C |
10: 23,876,740 (GRCm39) |
I302L |
probably benign |
Het |
| Tasor2 |
A |
G |
13: 3,624,832 (GRCm39) |
F1706S |
probably benign |
Het |
| Zfp106 |
G |
A |
2: 120,369,978 (GRCm39) |
P15S |
probably benign |
Het |
| Zfp385b |
T |
C |
2: 77,307,122 (GRCm39) |
Q167R |
probably damaging |
Het |
| Zfp800 |
T |
A |
6: 28,243,037 (GRCm39) |
T643S |
probably benign |
Het |
|
| Other mutations in Pwwp3b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02866:Pwwp3b
|
APN |
X |
138,135,753 (GRCm39) |
missense |
probably benign |
0.25 |
|
R0883:Pwwp3b
|
UTSW |
X |
138,136,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2860:Pwwp3b
|
UTSW |
X |
138,137,429 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R2861:Pwwp3b
|
UTSW |
X |
138,137,429 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R2862:Pwwp3b
|
UTSW |
X |
138,137,429 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R3853:Pwwp3b
|
UTSW |
X |
138,137,403 (GRCm39) |
splice site |
probably null |
|
|
| Posted On |
2012-04-20 |
Incidental Mutation