Incidental Mutation 'IGL02866:Pwwp3b'
| ID |
362335 |
| 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 # |
IGL02866
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
X |
| Chromosomal Location |
138110791-138139084 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 138135753 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 97
(V97A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129943
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113041]
[ENSMUST00000113042]
[ENSMUST00000113043]
[ENSMUST00000113045]
[ENSMUST00000166444]
[ENSMUST00000169886]
[ENSMUST00000170671]
|
| AlphaFold |
Q4VA55 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113041
AA Change: V97A
PolyPhen 2
Score 0.118 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000108664
Gene: ENSMUSG00000042515
AA Change: V97A
| 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 benign
Transcript: ENSMUST00000113042
AA Change: V97A
PolyPhen 2
Score 0.118 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000108665
Gene: ENSMUSG00000042515
AA Change: V97A
| 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 benign
Transcript: ENSMUST00000113043
AA Change: V97A
PolyPhen 2
Score 0.118 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000108666
Gene: ENSMUSG00000042515
AA Change: V97A
| 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 benign
Transcript: ENSMUST00000113045
AA Change: V97A
PolyPhen 2
Score 0.118 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000108668
Gene: ENSMUSG00000042515
AA Change: V97A
| 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 benign
Transcript: ENSMUST00000166444
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169886
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170671
AA Change: V97A
PolyPhen 2
Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts19 |
A |
T |
18: 59,181,914 (GRCm39) |
M1118L |
possibly damaging |
Het |
| Ckmt2 |
A |
T |
13: 92,006,400 (GRCm39) |
L315* |
probably null |
Het |
| Dusp28 |
T |
A |
1: 92,835,378 (GRCm39) |
I154N |
probably benign |
Het |
| Ect2l |
A |
T |
10: 18,035,565 (GRCm39) |
I420N |
probably damaging |
Het |
| Erap1 |
C |
A |
13: 74,816,118 (GRCm39) |
N82K |
probably damaging |
Het |
| Gsdma3 |
A |
G |
11: 98,520,585 (GRCm39) |
D72G |
possibly damaging |
Het |
| Hectd1 |
T |
A |
12: 51,837,396 (GRCm39) |
S720C |
probably damaging |
Het |
| Jakmip2 |
T |
G |
18: 43,685,266 (GRCm39) |
E674A |
probably benign |
Het |
| Kcnt2 |
T |
C |
1: 140,352,986 (GRCm39) |
S232P |
probably damaging |
Het |
| Kmo |
T |
C |
1: 175,481,154 (GRCm39) |
S291P |
probably damaging |
Het |
| Kpnb1 |
A |
G |
11: 97,068,112 (GRCm39) |
V286A |
probably damaging |
Het |
| Ldah |
T |
A |
12: 8,288,602 (GRCm39) |
V83D |
probably benign |
Het |
| Mrgprb5 |
T |
A |
7: 47,817,914 (GRCm39) |
I274F |
probably damaging |
Het |
| Mycbp2 |
A |
G |
14: 103,367,428 (GRCm39) |
I988T |
probably damaging |
Het |
| Myh3 |
A |
G |
11: 66,979,849 (GRCm39) |
E596G |
probably benign |
Het |
| Ndufs1 |
T |
C |
1: 63,186,300 (GRCm39) |
I52V |
probably benign |
Het |
| Nhsl1 |
G |
T |
10: 18,403,355 (GRCm39) |
D1363Y |
probably damaging |
Het |
| Or14c41 |
T |
A |
7: 86,234,901 (GRCm39) |
C139* |
probably null |
Het |
| Or51f1e |
C |
A |
7: 102,747,590 (GRCm39) |
T214K |
probably damaging |
Het |
| Or5b98 |
A |
G |
19: 12,931,719 (GRCm39) |
I255M |
possibly damaging |
Het |
| Or6c66 |
A |
C |
10: 129,461,575 (GRCm39) |
Y118* |
probably null |
Het |
| Pcdhb19 |
T |
C |
18: 37,632,163 (GRCm39) |
S653P |
possibly damaging |
Het |
| Plcb3 |
A |
G |
19: 6,935,044 (GRCm39) |
L869P |
probably damaging |
Het |
| Prkdc |
T |
A |
16: 15,649,191 (GRCm39) |
F3722I |
probably damaging |
Het |
| Ptprd |
T |
C |
4: 75,968,674 (GRCm39) |
K206R |
probably damaging |
Het |
| Robo3 |
C |
A |
9: 37,333,602 (GRCm39) |
R703L |
possibly damaging |
Het |
| Tob1 |
A |
T |
11: 94,104,883 (GRCm39) |
M140L |
possibly damaging |
Het |
| Ubc |
A |
T |
5: 125,464,486 (GRCm39) |
D280E |
probably benign |
Het |
| Wasf3 |
C |
A |
5: 146,405,131 (GRCm39) |
Q364K |
probably benign |
Het |
|
| Other mutations in Pwwp3b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00330:Pwwp3b
|
APN |
X |
138,136,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2015-12-18 |
Incidental Mutation