Incidental Mutation 'R1366:Tpd52'
| ID |
156028 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tpd52
|
| Ensembl Gene |
ENSMUSG00000027506 |
| Gene Name |
tumor protein D52 |
| Synonyms |
mD52 |
| MMRRC Submission |
039431-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R1366 (G1)
|
| Quality Score |
182 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
8991590-9069824 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 9028993 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 17
(D17G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091943
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063496]
[ENSMUST00000091354]
[ENSMUST00000091355]
[ENSMUST00000094381]
[ENSMUST00000120143]
[ENSMUST00000121038]
[ENSMUST00000124956]
[ENSMUST00000134788]
[ENSMUST00000155450]
[ENSMUST00000145905]
|
| AlphaFold |
Q62393 |
| Predicted Effect |
probably benign
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 damaging
Transcript: ENSMUST00000091354
AA Change: D17G
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000088913
Gene: ENSMUSG00000027506
AA Change: D17G
| 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 benign
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 damaging
Transcript: ENSMUST00000094381
AA Change: D17G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000091943
Gene: ENSMUSG00000027506
AA Change: D17G
| 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 benign
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 benign
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 benign
Transcript: ENSMUST00000124956
|
| SMART Domains |
Protein: ENSMUSP00000119077
Gene: ENSMUSG00000027506
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPD52
|
1 |
77 |
8.8e-38 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129736
|
| Predicted Effect |
probably benign
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 |
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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145905
|
| SMART Domains |
Protein: ENSMUSP00000123147
Gene: ENSMUSG00000027506
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPD52
|
4 |
168 |
8.3e-72 |
PFAM |
|
| Meta Mutation Damage Score |
0.0853 |
| Coding Region Coverage |
- 1x: 98.6%
- 3x: 97.1%
- 10x: 92.3%
- 20x: 80.8%
|
| Validation Efficiency |
93% (43/46) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
A |
T |
5: 77,036,651 (GRCm39) |
S297T |
probably benign |
Het |
| Acsm1 |
T |
C |
7: 119,257,511 (GRCm39) |
|
probably benign |
Het |
| Ankar |
T |
A |
1: 72,737,808 (GRCm39) |
N125Y |
probably damaging |
Het |
| Ccdc121 |
T |
A |
5: 31,644,861 (GRCm39) |
C205S |
probably benign |
Het |
| Chd1l |
T |
C |
3: 97,488,465 (GRCm39) |
D517G |
probably damaging |
Het |
| Cir1 |
A |
T |
2: 73,136,757 (GRCm39) |
|
probably benign |
Het |
| Cpxm1 |
G |
A |
2: 130,238,042 (GRCm39) |
R136W |
probably damaging |
Het |
| Dnah10 |
A |
T |
5: 124,830,390 (GRCm39) |
E761D |
probably benign |
Het |
| Fam186a |
T |
A |
15: 99,841,270 (GRCm39) |
E1658V |
possibly damaging |
Het |
| Fam98a |
A |
G |
17: 75,846,381 (GRCm39) |
|
probably benign |
Het |
| Fanca |
G |
A |
8: 124,031,020 (GRCm39) |
|
probably benign |
Het |
| Frmd6 |
T |
C |
12: 70,934,663 (GRCm39) |
|
probably benign |
Het |
| Gmpr2 |
T |
C |
14: 55,914,200 (GRCm39) |
|
probably benign |
Het |
| Hck |
G |
A |
2: 152,980,215 (GRCm39) |
G348D |
probably damaging |
Het |
| Ifnab |
T |
A |
4: 88,609,337 (GRCm39) |
Q43L |
possibly damaging |
Het |
| Ilkap |
A |
G |
1: 91,314,937 (GRCm39) |
I142T |
possibly damaging |
Het |
| Lamc3 |
T |
C |
2: 31,818,859 (GRCm39) |
S1206P |
probably damaging |
Het |
| Mfsd13a |
C |
T |
19: 46,354,943 (GRCm39) |
T40I |
probably benign |
Het |
| Mid1 |
A |
C |
X: 168,769,090 (GRCm39) |
N215H |
probably damaging |
Het |
| Mkrn1 |
T |
C |
6: 39,382,851 (GRCm39) |
T134A |
probably benign |
Het |
| Mmp9 |
T |
A |
2: 164,795,262 (GRCm39) |
V628E |
probably damaging |
Het |
| Msi2 |
A |
T |
11: 88,607,406 (GRCm39) |
V67D |
probably damaging |
Het |
| Ncapd3 |
T |
A |
9: 26,969,236 (GRCm39) |
V630E |
probably damaging |
Het |
| Nkain1 |
A |
G |
4: 130,537,316 (GRCm38) |
V73A |
probably damaging |
Het |
| Nphp4 |
T |
A |
4: 152,587,383 (GRCm39) |
D245E |
probably damaging |
Het |
| Or14j3 |
T |
C |
17: 37,900,655 (GRCm39) |
I196M |
probably benign |
Het |
| Or7a41 |
T |
G |
10: 78,870,876 (GRCm39) |
M82R |
probably damaging |
Het |
| Or9g8 |
G |
A |
2: 85,607,348 (GRCm39) |
C140Y |
probably benign |
Het |
| Pkd1l1 |
T |
C |
11: 8,891,038 (GRCm39) |
|
probably benign |
Het |
| Plcxd1 |
A |
C |
5: 110,250,096 (GRCm39) |
I184L |
probably damaging |
Het |
| Prl3b1 |
G |
A |
13: 27,427,848 (GRCm39) |
A53T |
probably benign |
Het |
| Rasl10b |
G |
A |
11: 83,308,665 (GRCm39) |
|
probably null |
Het |
| Scube2 |
A |
G |
7: 109,403,821 (GRCm39) |
Y890H |
probably damaging |
Het |
| Slco6c1 |
T |
A |
1: 97,055,928 (GRCm39) |
|
probably null |
Het |
| Tnfaip2 |
T |
G |
12: 111,415,756 (GRCm39) |
F485V |
probably benign |
Het |
| Ube4b |
T |
C |
4: 149,419,606 (GRCm39) |
D1034G |
probably damaging |
Het |
| Vmn2r118 |
G |
A |
17: 55,900,237 (GRCm39) |
Q556* |
probably null |
Het |
| Zftraf1 |
T |
C |
15: 76,533,169 (GRCm39) |
R190G |
probably damaging |
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 |
|
|
IGL02662:Tpd52
|
APN |
3 |
9,009,775 (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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TATTTGACCCCAAGACCCTCCGTG -3'
(R):5'- CAGTGAATTAGCGACAGGTGGTGAC -3'
Sequencing Primer
(F):5'- CAGACGGTGCCAACTTTAAAATTC -3'
(R):5'- CTCCTAAGGGAGGAGTCACTAC -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation