Incidental Mutation 'IGL02596:Clptm1l'
| ID |
299876 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Clptm1l
|
| Ensembl Gene |
ENSMUSG00000021610 |
| Gene Name |
CLPTM1-like |
| Synonyms |
C130052I12Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02596
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
73604006-73620605 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 73613666 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 330
(R330C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022102
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022102]
|
| AlphaFold |
Q8BXA5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022102
AA Change: R330C
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000022102
Gene: ENSMUSG00000021610
AA Change: R330C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CLPTM1
|
10 |
423 |
3.2e-134 |
PFAM |
|
transmembrane domain
|
428 |
450 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221130
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221417
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222343
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a membrane protein whose overexpression in cisplatin-sensitive cells causes apoptosis. Polymorphisms in this gene have been reported to increase susceptibility to several cancers, including lung, pancreatic, and breast cancers. [provided by RefSeq, Nov 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310002L09Rik |
T |
G |
4: 73,950,667 (GRCm38) |
Q11H |
possibly damaging |
Het |
| Armcx5 |
T |
A |
X: 135,746,519 (GRCm38) |
I448K |
probably damaging |
Het |
| Atp4b |
T |
A |
8: 13,393,471 (GRCm38) |
Y69F |
possibly damaging |
Het |
| Ccdc7b |
T |
A |
8: 129,072,478 (GRCm38) |
V12E |
probably benign |
Het |
| Cdc5l |
C |
A |
17: 45,424,604 (GRCm38) |
|
probably benign |
Het |
| Cpq |
C |
T |
15: 33,213,014 (GRCm38) |
R60W |
probably damaging |
Het |
| Cpvl |
T |
C |
6: 53,932,010 (GRCm38) |
Y256C |
probably damaging |
Het |
| Cryzl2 |
A |
T |
1: 157,464,969 (GRCm38) |
D107V |
probably damaging |
Het |
| Cyp2e1 |
G |
A |
7: 140,770,118 (GRCm38) |
V239M |
probably damaging |
Het |
| Cyp2j7 |
T |
A |
4: 96,215,422 (GRCm38) |
D292V |
possibly damaging |
Het |
| Dcaf1 |
A |
G |
9: 106,863,021 (GRCm38) |
Y1202C |
probably damaging |
Het |
| Dnah3 |
T |
C |
7: 119,938,914 (GRCm38) |
N3616S |
probably benign |
Het |
| Enam |
A |
G |
5: 88,503,026 (GRCm38) |
D723G |
probably benign |
Het |
| Eps8l1 |
G |
A |
7: 4,470,872 (GRCm38) |
R226H |
probably damaging |
Het |
| Erich2 |
A |
G |
2: 70,512,803 (GRCm38) |
|
probably benign |
Het |
| Esyt3 |
A |
C |
9: 99,328,015 (GRCm38) |
L271V |
probably benign |
Het |
| Fer1l4 |
T |
C |
2: 156,039,132 (GRCm38) |
N838S |
probably benign |
Het |
| Gad1 |
T |
C |
2: 70,594,684 (GRCm38) |
Y441H |
probably damaging |
Het |
| Gja1 |
G |
T |
10: 56,388,252 (GRCm38) |
V236F |
possibly damaging |
Het |
| Gpr156 |
T |
C |
16: 37,978,724 (GRCm38) |
I100T |
probably benign |
Het |
| Hace1 |
A |
G |
10: 45,700,640 (GRCm38) |
T803A |
possibly damaging |
Het |
| Jagn1 |
G |
A |
6: 113,447,601 (GRCm38) |
V145I |
probably benign |
Het |
| Kdm4b |
C |
A |
17: 56,399,706 (GRCm38) |
T899K |
probably benign |
Het |
| Klk1b8 |
G |
A |
7: 43,952,763 (GRCm38) |
V40M |
probably damaging |
Het |
| Lyst |
G |
A |
13: 13,660,956 (GRCm38) |
C1741Y |
probably benign |
Het |
| Mast1 |
G |
T |
8: 84,917,771 (GRCm38) |
A843E |
probably benign |
Het |
| Mbd1 |
T |
A |
18: 74,276,797 (GRCm38) |
|
probably benign |
Het |
| Mdga1 |
A |
G |
17: 29,832,405 (GRCm38) |
|
probably benign |
Het |
| Mlh3 |
A |
G |
12: 85,240,958 (GRCm38) |
|
probably null |
Het |
| Or10ag53 |
C |
A |
2: 87,252,129 (GRCm38) |
T64K |
probably damaging |
Het |
| Or5b109 |
A |
T |
19: 13,234,399 (GRCm38) |
I50F |
probably damaging |
Het |
| Pwp1 |
A |
G |
10: 85,872,018 (GRCm38) |
|
probably null |
Het |
| Rbm12 |
C |
T |
2: 156,095,560 (GRCm38) |
|
probably benign |
Het |
| Slc12a7 |
T |
A |
13: 73,785,123 (GRCm38) |
V100E |
probably benign |
Het |
| Spata31e2 |
T |
A |
1: 26,684,002 (GRCm38) |
H699L |
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,325,104 (GRCm38) |
P658L |
unknown |
Het |
| Tgfb1i1 |
T |
A |
7: 128,248,896 (GRCm38) |
M1K |
probably null |
Het |
| Tubgcp6 |
T |
A |
15: 89,100,914 (GRCm38) |
E1657V |
probably damaging |
Het |
| Zfp770 |
A |
G |
2: 114,195,827 (GRCm38) |
V587A |
probably benign |
Het |
| Zxdc |
A |
G |
6: 90,373,709 (GRCm38) |
|
probably null |
Het |
|
| Other mutations in Clptm1l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01672:Clptm1l
|
APN |
13 |
73,607,873 (GRCm38) |
splice site |
probably null |
|
|
IGL01963:Clptm1l
|
APN |
13 |
73,617,569 (GRCm38) |
splice site |
probably benign |
|
|
IGL02169:Clptm1l
|
APN |
13 |
73,611,663 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL02554:Clptm1l
|
APN |
13 |
73,607,760 (GRCm38) |
missense |
probably benign |
0.07 |
|
IGL02720:Clptm1l
|
APN |
13 |
73,614,602 (GRCm38) |
splice site |
probably benign |
|
|
IGL03100:Clptm1l
|
APN |
13 |
73,612,390 (GRCm38) |
splice site |
probably benign |
|
|
P0023:Clptm1l
|
UTSW |
13 |
73,604,952 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R0308:Clptm1l
|
UTSW |
13 |
73,611,667 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R0725:Clptm1l
|
UTSW |
13 |
73,606,343 (GRCm38) |
missense |
probably benign |
|
|
R1572:Clptm1l
|
UTSW |
13 |
73,607,747 (GRCm38) |
missense |
probably benign |
|
|
R1589:Clptm1l
|
UTSW |
13 |
73,614,673 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2062:Clptm1l
|
UTSW |
13 |
73,607,723 (GRCm38) |
nonsense |
probably null |
|
|
R2064:Clptm1l
|
UTSW |
13 |
73,607,723 (GRCm38) |
nonsense |
probably null |
|
|
R2065:Clptm1l
|
UTSW |
13 |
73,607,723 (GRCm38) |
nonsense |
probably null |
|
|
R2067:Clptm1l
|
UTSW |
13 |
73,607,723 (GRCm38) |
nonsense |
probably null |
|
|
R2068:Clptm1l
|
UTSW |
13 |
73,607,723 (GRCm38) |
nonsense |
probably null |
|
|
R3003:Clptm1l
|
UTSW |
13 |
73,617,756 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R3712:Clptm1l
|
UTSW |
13 |
73,616,038 (GRCm38) |
missense |
probably benign |
0.21 |
|
R3808:Clptm1l
|
UTSW |
13 |
73,612,454 (GRCm38) |
missense |
probably benign |
0.13 |
|
R3966:Clptm1l
|
UTSW |
13 |
73,615,972 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4615:Clptm1l
|
UTSW |
13 |
73,607,738 (GRCm38) |
nonsense |
probably null |
|
|
R4801:Clptm1l
|
UTSW |
13 |
73,607,862 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R4802:Clptm1l
|
UTSW |
13 |
73,607,862 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R4957:Clptm1l
|
UTSW |
13 |
73,612,428 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4957:Clptm1l
|
UTSW |
13 |
73,611,196 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R5864:Clptm1l
|
UTSW |
13 |
73,606,284 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6502:Clptm1l
|
UTSW |
13 |
73,617,765 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6701:Clptm1l
|
UTSW |
13 |
73,608,906 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6720:Clptm1l
|
UTSW |
13 |
73,618,516 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7782:Clptm1l
|
UTSW |
13 |
73,604,320 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8292:Clptm1l
|
UTSW |
13 |
73,617,735 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R8329:Clptm1l
|
UTSW |
13 |
73,612,428 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9224:Clptm1l
|
UTSW |
13 |
73,604,225 (GRCm38) |
start gained |
probably benign |
|
|
R9528:Clptm1l
|
UTSW |
13 |
73,612,431 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
| Posted On |
2015-04-16 |
Incidental Mutation