Incidental Mutation 'IGL02475:Tpd52l2'
| ID |
294889 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tpd52l2
|
| Ensembl Gene |
ENSMUSG00000000827 |
| Gene Name |
tumor protein D52-like 2 |
| Synonyms |
2810411G23Rik, D54 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02475
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
181138935-181159759 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 181141667 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 17
(V17M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104428
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000844]
[ENSMUST00000069649]
[ENSMUST00000069712]
[ENSMUST00000108799]
[ENSMUST00000108800]
[ENSMUST00000149163]
[ENSMUST00000184849]
[ENSMUST00000184588]
|
| AlphaFold |
Q9CYZ2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000844
AA Change: V17M
PolyPhen 2
Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000000844
Gene: ENSMUSG00000000827
AA Change: V17M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPD52
|
28 |
199 |
6.2e-55 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069649
|
| SMART Domains |
Protein: ENSMUSP00000066520
Gene: ENSMUSG00000055882
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Abhydrolase_1
|
174 |
339 |
2.9e-11 |
PFAM |
|
Pfam:Abhydrolase_5
|
174 |
341 |
2.1e-13 |
PFAM |
|
Pfam:Hydrolase_4
|
180 |
308 |
5.1e-9 |
PFAM |
|
low complexity region
|
345 |
357 |
N/A |
INTRINSIC |
|
low complexity region
|
435 |
452 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069712
AA Change: V17M
PolyPhen 2
Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000068888
Gene: ENSMUSG00000000827
AA Change: V17M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPD52
|
27 |
193 |
5.8e-57 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108799
AA Change: V17M
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000104427
Gene: ENSMUSG00000000827
AA Change: V17M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPD52
|
18 |
121 |
1.9e-38 |
PFAM |
|
Pfam:TPD52
|
115 |
220 |
1.3e-33 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108800
AA Change: V17M
PolyPhen 2
Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000104428
Gene: ENSMUSG00000000827
AA Change: V17M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPD52
|
27 |
179 |
2.9e-59 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129390
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000141825
AA Change: V10M
|
| SMART Domains |
Protein: ENSMUSP00000123627
Gene: ENSMUSG00000000827
AA Change: V10M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPD52
|
12 |
161 |
3e-57 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149163
AA Change: V17M
PolyPhen 2
Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000117690
Gene: ENSMUSG00000000827
AA Change: V17M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPD52
|
28 |
213 |
5.2e-54 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184849
|
| SMART Domains |
Protein: ENSMUSP00000138837
Gene: ENSMUSG00000000827
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPD52
|
9 |
170 |
2.4e-54 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183956
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155589
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184588
|
| 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 member of the tumor protein D52-like family. These proteins are characterized by an N-terminal coiled-coil motif that is used to form homo- and heteromeric complexes with other tumor protein D52-like proteins. Expression of this gene may be a marker for breast cancer and acute lymphoblastic leukemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 12. [provided by RefSeq, Aug 2011]
PHENOTYPE: Female mice homozygous for a knock-out allele exhibit decreased body length and absent or minimal hepatic lipidosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001J03Rik |
A |
T |
5: 146,119,343 (GRCm39) |
|
probably benign |
Het |
| 5730409E04Rik |
A |
G |
4: 126,505,742 (GRCm39) |
E90G |
probably damaging |
Het |
| Abhd6 |
T |
A |
14: 8,039,849 (GRCm38) |
I27N |
probably damaging |
Het |
| Akap6 |
A |
T |
12: 53,186,277 (GRCm39) |
E1230D |
probably benign |
Het |
| Bcl2l12 |
A |
G |
7: 44,646,317 (GRCm39) |
V31A |
possibly damaging |
Het |
| Cep350 |
G |
A |
1: 155,738,341 (GRCm39) |
R2501W |
probably damaging |
Het |
| Cnga3 |
A |
G |
1: 37,297,072 (GRCm39) |
|
probably null |
Het |
| Crcp |
T |
C |
5: 130,088,699 (GRCm39) |
|
probably benign |
Het |
| Creb5 |
G |
A |
6: 53,670,909 (GRCm39) |
S304N |
probably damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,219,296 (GRCm39) |
D38G |
probably benign |
Het |
| Fam171a1 |
A |
G |
2: 3,224,527 (GRCm39) |
I293V |
possibly damaging |
Het |
| Fbxw10 |
T |
C |
11: 62,748,561 (GRCm39) |
V396A |
possibly damaging |
Het |
| Gm10340 |
G |
A |
14: 14,832,274 (GRCm39) |
|
probably benign |
Het |
| Grik3 |
A |
G |
4: 125,544,310 (GRCm39) |
T344A |
probably benign |
Het |
| Itga7 |
T |
C |
10: 128,769,958 (GRCm39) |
F34S |
probably damaging |
Het |
| Musk |
T |
C |
4: 58,353,936 (GRCm39) |
|
probably benign |
Het |
| Neb |
G |
T |
2: 52,182,831 (GRCm39) |
N1038K |
probably damaging |
Het |
| Nf1 |
T |
C |
11: 79,426,493 (GRCm39) |
Y1636H |
probably damaging |
Het |
| Ngef |
G |
T |
1: 87,406,872 (GRCm39) |
T632K |
possibly damaging |
Het |
| Nme1nme2 |
A |
G |
11: 93,846,400 (GRCm39) |
V16A |
probably damaging |
Het |
| Nts |
A |
G |
10: 102,326,108 (GRCm39) |
|
probably benign |
Het |
| Olfml2b |
A |
G |
1: 170,509,743 (GRCm39) |
D697G |
probably damaging |
Het |
| Or5ac23 |
A |
T |
16: 59,149,088 (GRCm39) |
H261Q |
probably benign |
Het |
| Or5m8 |
T |
C |
2: 85,822,376 (GRCm39) |
F72L |
probably benign |
Het |
| Or9i1 |
T |
A |
19: 13,839,663 (GRCm39) |
C169S |
probably damaging |
Het |
| Otof |
T |
C |
5: 30,534,026 (GRCm39) |
R1428G |
probably damaging |
Het |
| Pgghg |
T |
C |
7: 140,525,633 (GRCm39) |
S479P |
|
Het |
| Rnaseh2b |
T |
A |
14: 62,584,064 (GRCm39) |
F37I |
probably damaging |
Het |
| Rtn4 |
T |
A |
11: 29,683,801 (GRCm39) |
I1031N |
probably damaging |
Het |
| Rxfp2 |
A |
G |
5: 149,987,151 (GRCm39) |
E344G |
probably benign |
Het |
| Scel |
A |
G |
14: 103,774,444 (GRCm39) |
R89G |
possibly damaging |
Het |
| Sirt4 |
T |
C |
5: 115,621,055 (GRCm39) |
E39G |
probably benign |
Het |
| Slc6a12 |
T |
A |
6: 121,331,334 (GRCm39) |
|
probably null |
Het |
| Snapc3 |
C |
A |
4: 83,368,333 (GRCm39) |
H277N |
probably benign |
Het |
| Susd2 |
A |
G |
10: 75,473,333 (GRCm39) |
|
probably null |
Het |
| Tagap1 |
T |
C |
17: 7,223,826 (GRCm39) |
Q290R |
probably benign |
Het |
| Tenm3 |
A |
T |
8: 48,732,233 (GRCm39) |
|
probably benign |
Het |
| Tmem54 |
A |
T |
4: 129,002,073 (GRCm39) |
H40L |
probably damaging |
Het |
| Tnks1bp1 |
T |
C |
2: 84,889,721 (GRCm39) |
S683P |
probably damaging |
Het |
| Tnpo2 |
A |
G |
8: 85,777,131 (GRCm39) |
D547G |
probably benign |
Het |
| Trip11 |
T |
A |
12: 101,861,942 (GRCm39) |
T208S |
probably benign |
Het |
| Ttc17 |
C |
A |
2: 94,194,721 (GRCm39) |
D551Y |
probably damaging |
Het |
| Ttll12 |
A |
T |
15: 83,471,302 (GRCm39) |
W222R |
probably damaging |
Het |
| Xkr8 |
A |
T |
4: 132,455,512 (GRCm39) |
I287N |
probably damaging |
Het |
| Zdhhc2 |
G |
T |
8: 40,926,066 (GRCm39) |
G354C |
probably null |
Het |
| Zfp13 |
C |
T |
17: 23,795,072 (GRCm39) |
A493T |
probably benign |
Het |
|
| Other mutations in Tpd52l2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00516:Tpd52l2
|
APN |
2 |
181,154,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00593:Tpd52l2
|
APN |
2 |
181,141,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03394:Tpd52l2
|
APN |
2 |
181,156,879 (GRCm39) |
missense |
probably benign |
0.39 |
|
PIT4791001:Tpd52l2
|
UTSW |
2 |
181,141,681 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0276:Tpd52l2
|
UTSW |
2 |
181,143,852 (GRCm39) |
splice site |
probably null |
|
|
R0615:Tpd52l2
|
UTSW |
2 |
181,143,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4910:Tpd52l2
|
UTSW |
2 |
181,157,005 (GRCm39) |
unclassified |
probably benign |
|
|
R5201:Tpd52l2
|
UTSW |
2 |
181,156,879 (GRCm39) |
missense |
probably benign |
0.39 |
|
R5527:Tpd52l2
|
UTSW |
2 |
181,143,847 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5806:Tpd52l2
|
UTSW |
2 |
181,144,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5809:Tpd52l2
|
UTSW |
2 |
181,153,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5839:Tpd52l2
|
UTSW |
2 |
181,141,691 (GRCm39) |
missense |
probably benign |
0.41 |
|
R8702:Tpd52l2
|
UTSW |
2 |
181,143,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8866:Tpd52l2
|
UTSW |
2 |
181,154,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9194:Tpd52l2
|
UTSW |
2 |
181,141,683 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
| Posted On |
2015-04-16 |
Incidental Mutation