Incidental Mutation 'IGL03394:Tpd52l2'
| ID |
421181 |
| 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 # |
IGL03394
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
181138935-181159759 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 181156879 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 172
(V172I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068888
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000844]
[ENSMUST00000069712]
[ENSMUST00000108799]
[ENSMUST00000108800]
[ENSMUST00000149163]
[ENSMUST00000184849]
[ENSMUST00000184588]
|
| AlphaFold |
Q9CYZ2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000844
AA Change: V178I
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000000844
Gene: ENSMUSG00000000827
AA Change: V178I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPD52
|
28 |
199 |
6.2e-55 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069712
AA Change: V172I
PolyPhen 2
Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000068888
Gene: ENSMUSG00000000827
AA Change: V172I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPD52
|
27 |
193 |
5.8e-57 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108799
AA Change: V201I
PolyPhen 2
Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000104427
Gene: ENSMUSG00000000827
AA Change: V201I
| 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: V158I
PolyPhen 2
Score 0.238 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000104428
Gene: ENSMUSG00000000827
AA Change: V158I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPD52
|
27 |
179 |
2.9e-59 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130261
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141825
|
| SMART Domains |
Protein: ENSMUSP00000123627
Gene: ENSMUSG00000000827
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPD52
|
12 |
161 |
3e-57 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149163
AA Change: V192I
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000117690
Gene: ENSMUSG00000000827
AA Change: V192I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPD52
|
28 |
213 |
5.2e-54 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184849
AA Change: V157I
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000138837
Gene: ENSMUSG00000000827
AA Change: V157I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPD52
|
9 |
170 |
2.4e-54 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157753
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
A |
G |
17: 46,635,277 (GRCm39) |
L242P |
probably damaging |
Het |
| Adam22 |
T |
C |
5: 8,217,379 (GRCm39) |
I139V |
probably benign |
Het |
| Ahr |
G |
T |
12: 35,553,751 (GRCm39) |
Y789* |
probably null |
Het |
| Ankrd27 |
C |
A |
7: 35,306,523 (GRCm39) |
|
probably null |
Het |
| Ano1 |
T |
C |
7: 144,149,176 (GRCm39) |
|
probably null |
Het |
| Ap4e1 |
T |
A |
2: 126,905,317 (GRCm39) |
M996K |
probably benign |
Het |
| Bglap |
T |
C |
3: 88,291,312 (GRCm39) |
K42E |
probably benign |
Het |
| Ccdc30 |
A |
T |
4: 119,216,779 (GRCm39) |
S220R |
probably damaging |
Het |
| Clic5 |
A |
G |
17: 44,548,105 (GRCm39) |
N50S |
probably benign |
Het |
| Csnk2a1-ps3 |
A |
T |
1: 156,352,792 (GRCm39) |
Q331L |
probably benign |
Het |
| Cyp20a1 |
T |
G |
1: 60,405,840 (GRCm39) |
D211E |
probably damaging |
Het |
| Dctn1 |
G |
A |
6: 83,168,266 (GRCm39) |
V408I |
possibly damaging |
Het |
| Exoc6 |
T |
C |
19: 37,588,020 (GRCm39) |
I551T |
probably benign |
Het |
| Fat4 |
C |
T |
3: 38,946,168 (GRCm39) |
T1687M |
probably damaging |
Het |
| Fat4 |
T |
A |
3: 39,063,513 (GRCm39) |
C4490S |
probably damaging |
Het |
| Fras1 |
T |
A |
5: 96,815,336 (GRCm39) |
I1351N |
probably damaging |
Het |
| Igkv2-116 |
T |
C |
6: 68,129,327 (GRCm39) |
|
noncoding transcript |
Het |
| Iws1 |
T |
G |
18: 32,221,301 (GRCm39) |
|
probably benign |
Het |
| Mlh1 |
A |
T |
9: 111,097,311 (GRCm39) |
I61N |
probably damaging |
Het |
| Mtmr7 |
C |
T |
8: 41,061,972 (GRCm39) |
V38M |
probably damaging |
Het |
| Myh7 |
G |
T |
14: 55,212,818 (GRCm39) |
A1409D |
probably damaging |
Het |
| Myt1 |
A |
T |
2: 181,439,638 (GRCm39) |
I387F |
probably damaging |
Het |
| Nars2 |
A |
G |
7: 96,689,220 (GRCm39) |
N381D |
possibly damaging |
Het |
| Nsd3 |
T |
C |
8: 26,165,765 (GRCm39) |
|
probably benign |
Het |
| Nup107 |
A |
G |
10: 117,617,933 (GRCm39) |
S162P |
probably damaging |
Het |
| Oog2 |
T |
C |
4: 143,920,576 (GRCm39) |
F3S |
probably benign |
Het |
| Or8b1b |
A |
G |
9: 38,375,517 (GRCm39) |
Y60C |
probably damaging |
Het |
| Oxgr1 |
T |
C |
14: 120,260,022 (GRCm39) |
M62V |
possibly damaging |
Het |
| Pcgf1 |
A |
G |
6: 83,056,121 (GRCm39) |
Y75C |
probably damaging |
Het |
| Ppp3cc |
C |
A |
14: 70,462,477 (GRCm39) |
E396* |
probably null |
Het |
| Ptx4 |
T |
A |
17: 25,343,649 (GRCm39) |
C300S |
probably damaging |
Het |
| Rassf4 |
C |
T |
6: 116,618,708 (GRCm39) |
V192I |
probably damaging |
Het |
| Rundc3b |
T |
C |
5: 8,598,261 (GRCm39) |
T203A |
possibly damaging |
Het |
| Serpinb3c |
T |
C |
1: 107,199,603 (GRCm39) |
D306G |
probably benign |
Het |
| Sipa1l2 |
T |
C |
8: 126,218,398 (GRCm39) |
E313G |
possibly damaging |
Het |
| Snx5 |
G |
A |
2: 144,095,674 (GRCm39) |
A329V |
probably damaging |
Het |
| Stx1b |
T |
C |
7: 127,407,056 (GRCm39) |
D213G |
probably damaging |
Het |
| Trim50 |
A |
T |
5: 135,392,807 (GRCm39) |
I241F |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,580,760 (GRCm39) |
H23378Y |
probably benign |
Het |
| Vmn1r193 |
T |
A |
13: 22,403,939 (GRCm39) |
M18L |
probably benign |
Het |
| Vmn1r226 |
A |
G |
17: 20,908,446 (GRCm39) |
N226S |
probably benign |
Het |
| Vmn2r14 |
T |
A |
5: 109,367,702 (GRCm39) |
Q430L |
probably null |
Het |
| Xirp2 |
T |
A |
2: 67,345,538 (GRCm39) |
V2593D |
probably damaging |
Het |
| Zfp169 |
A |
T |
13: 48,643,400 (GRCm39) |
F576I |
possibly damaging |
Het |
| Zfp667 |
T |
C |
7: 6,292,438 (GRCm39) |
|
probably null |
Het |
| Zzef1 |
A |
G |
11: 72,777,601 (GRCm39) |
|
probably null |
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 |
|
IGL02475:Tpd52l2
|
APN |
2 |
181,141,667 (GRCm39) |
missense |
probably benign |
0.11 |
|
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 |
2016-08-02 |
Incidental Mutation