Incidental Mutation 'IGL02662:Tpd52'
| ID |
302602 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tpd52
|
| Ensembl Gene |
ENSMUSG00000027506 |
| Gene Name |
tumor protein D52 |
| Synonyms |
mD52 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
IGL02662
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
8991590-9069824 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 9009775 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123147
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063496]
[ENSMUST00000091354]
[ENSMUST00000091355]
[ENSMUST00000094381]
[ENSMUST00000120143]
[ENSMUST00000121038]
[ENSMUST00000124956]
[ENSMUST00000145905]
[ENSMUST00000134788]
[ENSMUST00000155450]
|
| AlphaFold |
Q62393 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000063496
|
| SMART Domains |
Protein: ENSMUSP00000066826
Gene: ENSMUSG00000027506
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPD52
|
7 |
180 |
2.8e-69 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000091354
|
| SMART Domains |
Protein: ENSMUSP00000088913
Gene: ENSMUSG00000027506
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
42 |
N/A |
INTRINSIC |
|
Pfam:TPD52
|
46 |
210 |
4.7e-71 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000091355
|
| SMART Domains |
Protein: ENSMUSP00000088914
Gene: ENSMUSG00000027506
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPD52
|
7 |
185 |
7.5e-70 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000094381
|
| SMART Domains |
Protein: ENSMUSP00000091943
Gene: ENSMUSG00000027506
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
42 |
N/A |
INTRINSIC |
|
Pfam:TPD52
|
48 |
232 |
1.3e-74 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000120143
|
| SMART Domains |
Protein: ENSMUSP00000112830
Gene: ENSMUSG00000027506
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPD52
|
7 |
171 |
2.4e-71 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000121038
|
| SMART Domains |
Protein: ENSMUSP00000113368
Gene: ENSMUSG00000027506
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPD52
|
1 |
148 |
2.3e-67 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000124956
|
| SMART Domains |
Protein: ENSMUSP00000119077
Gene: ENSMUSG00000027506
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPD52
|
1 |
77 |
8.8e-38 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000145905
|
| SMART Domains |
Protein: ENSMUSP00000123147
Gene: ENSMUSG00000027506
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPD52
|
4 |
168 |
8.3e-72 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000134788
|
| SMART Domains |
Protein: ENSMUSP00000119899
Gene: ENSMUSG00000027506
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
10 |
29 |
N/A |
INTRINSIC |
|
Pfam:TPD52
|
56 |
206 |
1e-67 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129736
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155450
|
| SMART Domains |
Protein: ENSMUSP00000120317
Gene: ENSMUSG00000027506
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
10 |
29 |
N/A |
INTRINSIC |
|
transmembrane domain
|
36 |
55 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy8 |
A |
G |
15: 64,618,744 (GRCm39) |
|
probably null |
Het |
| Ap5z1 |
G |
A |
5: 142,462,644 (GRCm39) |
|
probably null |
Het |
| Cdhr5 |
T |
G |
7: 140,854,416 (GRCm39) |
I120L |
possibly damaging |
Het |
| Chd5 |
C |
T |
4: 152,456,588 (GRCm39) |
S975F |
probably damaging |
Het |
| Cts3 |
G |
T |
13: 61,715,871 (GRCm39) |
Q132K |
probably damaging |
Het |
| Cylc2 |
T |
A |
4: 51,216,698 (GRCm39) |
|
probably benign |
Het |
| Defb39 |
A |
G |
8: 19,102,891 (GRCm39) |
V68A |
probably benign |
Het |
| Dgki |
A |
G |
6: 36,839,421 (GRCm39) |
|
probably benign |
Het |
| Dhtkd1 |
G |
A |
2: 5,904,783 (GRCm39) |
P867L |
probably damaging |
Het |
| Gata5 |
C |
T |
2: 179,969,544 (GRCm39) |
|
probably benign |
Het |
| Glt28d2 |
T |
A |
3: 85,779,423 (GRCm39) |
I17F |
probably damaging |
Het |
| Gstm2 |
T |
C |
3: 107,892,378 (GRCm39) |
Y82C |
possibly damaging |
Het |
| Hs6st1 |
T |
A |
1: 36,142,893 (GRCm39) |
L276* |
probably null |
Het |
| Iqgap1 |
T |
C |
7: 80,392,827 (GRCm39) |
D712G |
probably benign |
Het |
| Kdm4c |
T |
C |
4: 74,323,058 (GRCm39) |
S997P |
probably damaging |
Het |
| Ksr1 |
G |
A |
11: 78,927,551 (GRCm39) |
T289I |
probably damaging |
Het |
| Lingo4 |
T |
C |
3: 94,309,124 (GRCm39) |
|
probably benign |
Het |
| Ncapd2 |
A |
G |
6: 125,153,694 (GRCm39) |
S674P |
probably damaging |
Het |
| Nek1 |
G |
A |
8: 61,557,218 (GRCm39) |
V841I |
probably benign |
Het |
| Or10a48 |
T |
C |
7: 108,424,952 (GRCm39) |
T85A |
probably benign |
Het |
| Or8i2 |
T |
C |
2: 86,852,346 (GRCm39) |
T181A |
probably benign |
Het |
| Pigx |
A |
G |
16: 31,906,201 (GRCm39) |
V40A |
probably damaging |
Het |
| Pla2g2d |
T |
G |
4: 138,506,006 (GRCm39) |
M5R |
possibly damaging |
Het |
| Ppa2 |
G |
T |
3: 133,073,644 (GRCm39) |
R234I |
probably damaging |
Het |
| Rbms1 |
A |
C |
2: 60,592,650 (GRCm39) |
L221R |
probably damaging |
Het |
| Rnasel |
C |
A |
1: 153,629,857 (GRCm39) |
N124K |
probably damaging |
Het |
| Serpinb9h |
A |
G |
13: 33,588,513 (GRCm39) |
N366S |
possibly damaging |
Het |
| Sigirr |
T |
A |
7: 140,674,707 (GRCm39) |
|
probably benign |
Het |
| Tas2r136 |
A |
T |
6: 132,754,671 (GRCm39) |
V152E |
probably damaging |
Het |
| Tlnrd1 |
C |
T |
7: 83,532,027 (GRCm39) |
V135M |
possibly damaging |
Het |
| Tlnrd1 |
A |
G |
7: 83,531,744 (GRCm39) |
L229S |
probably damaging |
Het |
| Top1mt |
A |
G |
15: 75,540,554 (GRCm39) |
V239A |
probably damaging |
Het |
| Trim16 |
T |
A |
11: 62,731,383 (GRCm39) |
L331Q |
possibly damaging |
Het |
| Ttll4 |
A |
G |
1: 74,726,390 (GRCm39) |
|
probably null |
Het |
| Vmn1r27 |
T |
A |
6: 58,192,272 (GRCm39) |
D244V |
probably damaging |
Het |
| Vmn2r72 |
A |
C |
7: 85,387,391 (GRCm39) |
D724E |
probably benign |
Het |
| Zfp563 |
T |
C |
17: 33,321,253 (GRCm39) |
W18R |
probably damaging |
Het |
| Zswim8 |
T |
C |
14: 20,763,142 (GRCm39) |
V347A |
probably benign |
Het |
|
| Other mutations in Tpd52 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00926:Tpd52
|
APN |
3 |
9,012,692 (GRCm39) |
splice site |
probably null |
|
|
IGL02994:Tpd52
|
APN |
3 |
9,012,590 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0319:Tpd52
|
UTSW |
3 |
9,018,749 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0960:Tpd52
|
UTSW |
3 |
9,008,650 (GRCm39) |
splice site |
probably null |
|
|
R1366:Tpd52
|
UTSW |
3 |
9,028,993 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1828:Tpd52
|
UTSW |
3 |
9,012,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1869:Tpd52
|
UTSW |
3 |
9,018,862 (GRCm39) |
splice site |
probably null |
|
|
R2872:Tpd52
|
UTSW |
3 |
9,068,466 (GRCm39) |
nonsense |
probably null |
|
|
R2872:Tpd52
|
UTSW |
3 |
9,068,466 (GRCm39) |
nonsense |
probably null |
|
|
R4761:Tpd52
|
UTSW |
3 |
9,028,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4907:Tpd52
|
UTSW |
3 |
9,009,668 (GRCm39) |
splice site |
probably null |
|
|
R4997:Tpd52
|
UTSW |
3 |
9,000,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5384:Tpd52
|
UTSW |
3 |
8,996,255 (GRCm39) |
splice site |
probably null |
|
|
R5385:Tpd52
|
UTSW |
3 |
8,996,255 (GRCm39) |
splice site |
probably null |
|
|
R5441:Tpd52
|
UTSW |
3 |
9,068,466 (GRCm39) |
nonsense |
probably null |
|
|
R7154:Tpd52
|
UTSW |
3 |
9,028,916 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Tpd52
|
UTSW |
3 |
8,996,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation