Incidental Mutation 'IGL01672:Clptm1l'
ID |
103549 |
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 # |
IGL01672
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
73752125-73768724 bp(+) (GRCm39) |
Type of Mutation |
splice site (5 bp from exon) |
DNA Base Change (assembly) |
G to A
at 73755992 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022102
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022102]
[ENSMUST00000022102]
|
AlphaFold |
Q8BXA5 |
Predicted Effect |
probably null
Transcript: ENSMUST00000022102
|
SMART Domains |
Protein: ENSMUSP00000022102 Gene: ENSMUSG00000021610
Domain | Start | End | E-Value | Type |
Pfam:CLPTM1
|
10 |
423 |
3.2e-134 |
PFAM |
transmembrane domain
|
428 |
450 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000022102
|
SMART Domains |
Protein: ENSMUSP00000022102 Gene: ENSMUSG00000021610
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: ENSMUST00000221417
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
A |
G |
6: 121,618,316 (GRCm39) |
E203G |
probably damaging |
Het |
Ano1 |
G |
T |
7: 144,209,412 (GRCm39) |
Q206K |
probably damaging |
Het |
Ap4e1 |
T |
A |
2: 126,894,109 (GRCm39) |
S620T |
probably damaging |
Het |
Arfip1 |
A |
T |
3: 84,455,339 (GRCm39) |
|
probably benign |
Het |
Atp8a2 |
A |
T |
14: 59,928,982 (GRCm39) |
M1024K |
probably benign |
Het |
Brap |
T |
C |
5: 121,816,908 (GRCm39) |
|
probably benign |
Het |
Calcrl |
T |
A |
2: 84,175,414 (GRCm39) |
T287S |
probably damaging |
Het |
Cpb1 |
T |
A |
3: 20,329,585 (GRCm39) |
Q47L |
probably null |
Het |
Cse1l |
T |
C |
2: 166,771,887 (GRCm39) |
I402T |
probably damaging |
Het |
Dnah17 |
A |
G |
11: 117,932,986 (GRCm39) |
S3591P |
probably damaging |
Het |
Dst |
T |
G |
1: 34,264,774 (GRCm39) |
I2322S |
probably damaging |
Het |
Dync2h1 |
G |
A |
9: 7,118,884 (GRCm39) |
R2194* |
probably null |
Het |
Ecpas |
A |
G |
4: 58,814,041 (GRCm39) |
V1355A |
probably benign |
Het |
Eno4 |
A |
G |
19: 58,931,977 (GRCm39) |
N30S |
possibly damaging |
Het |
Ero1a |
A |
C |
14: 45,529,887 (GRCm39) |
S349A |
probably benign |
Het |
Fat1 |
C |
T |
8: 45,493,737 (GRCm39) |
T3938I |
probably benign |
Het |
Focad |
T |
C |
4: 88,278,827 (GRCm39) |
|
probably null |
Het |
Gnai3 |
A |
T |
3: 108,016,775 (GRCm39) |
I343N |
probably damaging |
Het |
Golph3 |
T |
C |
15: 12,349,643 (GRCm39) |
V221A |
probably benign |
Het |
Gpr153 |
C |
A |
4: 152,364,370 (GRCm39) |
S142* |
probably null |
Het |
Itpr1 |
C |
A |
6: 108,357,993 (GRCm39) |
Y557* |
probably null |
Het |
Nat8f5 |
A |
G |
6: 85,794,934 (GRCm39) |
Y9H |
probably damaging |
Het |
Nbas |
T |
C |
12: 13,429,650 (GRCm39) |
V1045A |
possibly damaging |
Het |
Nol8 |
T |
C |
13: 49,828,883 (GRCm39) |
V1047A |
possibly damaging |
Het |
Or2t48 |
A |
C |
11: 58,419,948 (GRCm39) |
L288R |
probably benign |
Het |
Or5p1 |
T |
A |
7: 107,916,725 (GRCm39) |
V208E |
probably benign |
Het |
Osbpl1a |
G |
A |
18: 12,899,881 (GRCm39) |
T178I |
probably damaging |
Het |
Palld |
T |
A |
8: 62,330,536 (GRCm39) |
I114F |
probably benign |
Het |
Pcca |
A |
T |
14: 122,927,557 (GRCm39) |
Y440F |
probably benign |
Het |
Pclo |
T |
C |
5: 14,728,549 (GRCm39) |
|
probably benign |
Het |
Piwil1 |
T |
C |
5: 128,827,037 (GRCm39) |
M599T |
possibly damaging |
Het |
Pkd1l2 |
T |
A |
8: 117,807,471 (GRCm39) |
Y189F |
possibly damaging |
Het |
Plscr3 |
A |
G |
11: 69,738,508 (GRCm39) |
K91R |
possibly damaging |
Het |
Rars1 |
A |
T |
11: 35,699,380 (GRCm39) |
C638S |
probably damaging |
Het |
Relb |
T |
A |
7: 19,345,619 (GRCm39) |
H406L |
probably benign |
Het |
Ros1 |
G |
T |
10: 51,977,899 (GRCm39) |
T1449K |
possibly damaging |
Het |
Samd3 |
A |
T |
10: 26,146,067 (GRCm39) |
N364I |
possibly damaging |
Het |
Scn2a |
T |
A |
2: 65,582,278 (GRCm39) |
I1542N |
probably damaging |
Het |
Sdk1 |
T |
A |
5: 142,170,930 (GRCm39) |
M1931K |
probably benign |
Het |
Sphk2 |
T |
C |
7: 45,361,077 (GRCm39) |
D309G |
possibly damaging |
Het |
Stil |
T |
C |
4: 114,889,986 (GRCm39) |
S825P |
probably damaging |
Het |
Swt1 |
C |
T |
1: 151,270,359 (GRCm39) |
|
probably null |
Het |
Virma |
C |
T |
4: 11,527,792 (GRCm39) |
R1228C |
probably damaging |
Het |
Xirp2 |
T |
A |
2: 67,338,846 (GRCm39) |
H362Q |
probably benign |
Het |
Zfp451 |
C |
A |
1: 33,801,247 (GRCm39) |
M1056I |
probably benign |
Het |
Zfp458 |
T |
A |
13: 67,405,300 (GRCm39) |
M380L |
probably benign |
Het |
|
Other mutations in Clptm1l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01963:Clptm1l
|
APN |
13 |
73,765,688 (GRCm39) |
splice site |
probably benign |
|
IGL02169:Clptm1l
|
APN |
13 |
73,759,782 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02554:Clptm1l
|
APN |
13 |
73,755,879 (GRCm39) |
missense |
probably benign |
0.07 |
IGL02596:Clptm1l
|
APN |
13 |
73,761,785 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02720:Clptm1l
|
APN |
13 |
73,762,721 (GRCm39) |
splice site |
probably benign |
|
IGL03100:Clptm1l
|
APN |
13 |
73,760,509 (GRCm39) |
splice site |
probably benign |
|
P0023:Clptm1l
|
UTSW |
13 |
73,753,071 (GRCm39) |
missense |
possibly damaging |
0.67 |
R0308:Clptm1l
|
UTSW |
13 |
73,759,786 (GRCm39) |
missense |
possibly damaging |
0.67 |
R0725:Clptm1l
|
UTSW |
13 |
73,754,462 (GRCm39) |
missense |
probably benign |
|
R1572:Clptm1l
|
UTSW |
13 |
73,755,866 (GRCm39) |
missense |
probably benign |
|
R1589:Clptm1l
|
UTSW |
13 |
73,762,792 (GRCm39) |
critical splice donor site |
probably null |
|
R2062:Clptm1l
|
UTSW |
13 |
73,755,842 (GRCm39) |
nonsense |
probably null |
|
R2064:Clptm1l
|
UTSW |
13 |
73,755,842 (GRCm39) |
nonsense |
probably null |
|
R2065:Clptm1l
|
UTSW |
13 |
73,755,842 (GRCm39) |
nonsense |
probably null |
|
R2067:Clptm1l
|
UTSW |
13 |
73,755,842 (GRCm39) |
nonsense |
probably null |
|
R2068:Clptm1l
|
UTSW |
13 |
73,755,842 (GRCm39) |
nonsense |
probably null |
|
R3003:Clptm1l
|
UTSW |
13 |
73,765,875 (GRCm39) |
missense |
possibly damaging |
0.51 |
R3712:Clptm1l
|
UTSW |
13 |
73,764,157 (GRCm39) |
missense |
probably benign |
0.21 |
R3808:Clptm1l
|
UTSW |
13 |
73,760,573 (GRCm39) |
missense |
probably benign |
0.13 |
R3966:Clptm1l
|
UTSW |
13 |
73,764,091 (GRCm39) |
missense |
probably damaging |
1.00 |
R4615:Clptm1l
|
UTSW |
13 |
73,755,857 (GRCm39) |
nonsense |
probably null |
|
R4801:Clptm1l
|
UTSW |
13 |
73,755,981 (GRCm39) |
missense |
possibly damaging |
0.81 |
R4802:Clptm1l
|
UTSW |
13 |
73,755,981 (GRCm39) |
missense |
possibly damaging |
0.81 |
R4957:Clptm1l
|
UTSW |
13 |
73,760,547 (GRCm39) |
missense |
probably damaging |
1.00 |
R4957:Clptm1l
|
UTSW |
13 |
73,759,315 (GRCm39) |
missense |
possibly damaging |
0.52 |
R5864:Clptm1l
|
UTSW |
13 |
73,754,403 (GRCm39) |
missense |
probably damaging |
0.99 |
R6502:Clptm1l
|
UTSW |
13 |
73,765,884 (GRCm39) |
critical splice donor site |
probably null |
|
R6701:Clptm1l
|
UTSW |
13 |
73,757,025 (GRCm39) |
missense |
probably benign |
0.00 |
R6720:Clptm1l
|
UTSW |
13 |
73,766,635 (GRCm39) |
missense |
probably damaging |
1.00 |
R7782:Clptm1l
|
UTSW |
13 |
73,752,439 (GRCm39) |
missense |
probably damaging |
1.00 |
R8292:Clptm1l
|
UTSW |
13 |
73,765,854 (GRCm39) |
missense |
probably damaging |
0.96 |
R8329:Clptm1l
|
UTSW |
13 |
73,760,547 (GRCm39) |
missense |
probably damaging |
1.00 |
R9224:Clptm1l
|
UTSW |
13 |
73,752,344 (GRCm39) |
start gained |
probably benign |
|
R9528:Clptm1l
|
UTSW |
13 |
73,760,550 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
Posted On |
2014-01-21 |