Incidental Mutation 'PIT4791001:Tpd52l2'
| ID |
556957 |
| Institutional Source |
Beutler Lab
|
| 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 # |
PIT4791001 (G1)
|
| Quality Score |
181.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
181138935-181159759 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 181141681 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 21
(F21L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117690
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000844]
[ENSMUST00000069649]
[ENSMUST00000069712]
[ENSMUST00000108799]
[ENSMUST00000108800]
[ENSMUST00000149163]
[ENSMUST00000184588]
[ENSMUST00000184849]
|
| AlphaFold |
Q9CYZ2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000844
AA Change: F21L
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000000844
Gene: ENSMUSG00000000827
AA Change: F21L
| 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: F21L
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000068888
Gene: ENSMUSG00000000827
AA Change: F21L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPD52
|
27 |
193 |
5.8e-57 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108799
AA Change: F21L
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000104427
Gene: ENSMUSG00000000827
AA Change: F21L
| 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: F21L
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000104428
Gene: ENSMUSG00000000827
AA Change: F21L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPD52
|
27 |
179 |
2.9e-59 |
PFAM |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000123627
Gene: ENSMUSG00000000827
AA Change: F14L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPD52
|
12 |
161 |
3e-57 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149163
AA Change: F21L
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000117690
Gene: ENSMUSG00000000827
AA Change: F21L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPD52
|
28 |
213 |
5.2e-54 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184588
|
| 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 |
|
| Coding Region Coverage |
- 1x: 93.5%
- 3x: 90.8%
- 10x: 83.3%
- 20x: 68.6%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ago2 |
G |
A |
15: 72,993,089 (GRCm39) |
T472I |
possibly damaging |
Het |
| Ambp |
T |
A |
4: 63,072,298 (GRCm39) |
|
probably benign |
Het |
| As3mt |
T |
A |
19: 46,708,788 (GRCm39) |
F261I |
probably damaging |
Het |
| Atxn1l |
A |
G |
8: 110,458,579 (GRCm39) |
L561P |
probably damaging |
Het |
| Cnr2 |
A |
G |
4: 135,644,263 (GRCm39) |
T114A |
probably damaging |
Het |
| Dchs1 |
A |
G |
7: 105,408,178 (GRCm39) |
Y1885H |
probably damaging |
Het |
| Dcn |
A |
G |
10: 97,343,604 (GRCm39) |
N188S |
probably benign |
Het |
| Dennd6b |
A |
C |
15: 89,070,955 (GRCm39) |
|
probably null |
Het |
| Dstyk |
A |
G |
1: 132,377,665 (GRCm39) |
T424A |
probably benign |
Het |
| Gabrr3 |
A |
G |
16: 59,250,298 (GRCm39) |
|
probably null |
Het |
| Gnai3 |
A |
G |
3: 108,025,621 (GRCm39) |
S153P |
probably benign |
Het |
| Igkv2-112 |
T |
A |
6: 68,197,599 (GRCm39) |
S90R |
probably damaging |
Het |
| Lxn |
T |
C |
3: 67,365,979 (GRCm39) |
D173G |
probably damaging |
Het |
| Mcm3ap |
T |
A |
10: 76,342,307 (GRCm39) |
I1600N |
probably damaging |
Het |
| Myof |
A |
T |
19: 37,971,406 (GRCm39) |
|
probably null |
Het |
| Nrxn1 |
T |
C |
17: 90,762,931 (GRCm39) |
|
probably benign |
Het |
| Oaz3 |
A |
G |
3: 94,340,852 (GRCm39) |
Y232H |
unknown |
Het |
| Or5aq1b |
A |
T |
2: 86,902,046 (GRCm39) |
M144K |
possibly damaging |
Het |
| Pkdcc |
C |
T |
17: 83,527,577 (GRCm39) |
R252* |
probably null |
Het |
| Plcl1 |
A |
G |
1: 55,741,090 (GRCm39) |
N907S |
probably benign |
Het |
| Plscr1 |
T |
A |
9: 92,145,150 (GRCm39) |
Y53* |
probably null |
Het |
| Pm20d2 |
T |
C |
4: 33,174,756 (GRCm39) |
T377A |
probably benign |
Het |
| Ptchd3 |
T |
A |
11: 121,722,875 (GRCm39) |
V321D |
probably damaging |
Het |
| Ranbp3l |
T |
C |
15: 9,060,829 (GRCm39) |
I366T |
probably damaging |
Het |
| Sardh |
T |
C |
2: 27,087,660 (GRCm39) |
E737G |
probably damaging |
Het |
| Scart2 |
T |
C |
7: 139,853,975 (GRCm39) |
F326S |
possibly damaging |
Het |
| Scn1a |
T |
C |
2: 66,103,626 (GRCm39) |
E1878G |
probably benign |
Het |
| Slit3 |
T |
C |
11: 35,552,072 (GRCm39) |
V872A |
possibly damaging |
Het |
| Sugp2 |
C |
T |
8: 70,713,195 (GRCm39) |
Q1054* |
probably null |
Het |
| Syne3 |
T |
C |
12: 104,929,438 (GRCm39) |
T261A |
probably benign |
Het |
| Tgif2 |
T |
C |
2: 156,695,232 (GRCm39) |
S126P |
probably benign |
Het |
| Ticrr |
T |
C |
7: 79,319,386 (GRCm39) |
V457A |
possibly damaging |
Het |
| Tm7sf2 |
T |
C |
19: 6,113,635 (GRCm39) |
I299V |
probably benign |
Het |
| Tnks1bp1 |
A |
G |
2: 84,892,902 (GRCm39) |
E943G |
probably benign |
Het |
| Tpm2 |
A |
G |
4: 43,519,263 (GRCm39) |
L176P |
probably benign |
Het |
| Trim34a |
C |
A |
7: 103,909,691 (GRCm39) |
T293K |
probably benign |
Het |
| Ttc23 |
A |
T |
7: 67,312,135 (GRCm39) |
D14V |
probably damaging |
Het |
| Twsg1 |
T |
C |
17: 66,236,706 (GRCm39) |
E108G |
probably benign |
Het |
| Txndc15 |
C |
T |
13: 55,869,507 (GRCm39) |
A220V |
probably benign |
Het |
| Vmn1r183 |
A |
G |
7: 23,754,266 (GRCm39) |
Q23R |
probably damaging |
Het |
| Vmn1r31 |
A |
G |
6: 58,449,028 (GRCm39) |
V279A |
probably damaging |
Het |
| Vmo1 |
A |
C |
11: 70,404,661 (GRCm39) |
C113W |
probably damaging |
Het |
| Zfp984 |
A |
G |
4: 147,840,603 (GRCm39) |
S83P |
probably benign |
Het |
| Zik1 |
A |
C |
7: 10,226,256 (GRCm39) |
L37R |
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 |
|
IGL02475:Tpd52l2
|
APN |
2 |
181,141,667 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL03394:Tpd52l2
|
APN |
2 |
181,156,879 (GRCm39) |
missense |
probably benign |
0.39 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTCATGTGCCCAAGAAATAGC -3'
(R):5'- ACAGCTCTGTCACTGCATATG -3'
Sequencing Primer
(F):5'- GTGCCCAAGAAATAGCTGTTCTC -3'
(R):5'- ATGCTGTGTTCTACTCTCTGTATAAC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation