Incidental Mutation 'IGL01963:Clptm1l'
| ID |
182477 |
| 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 # |
IGL01963
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
73752125-73768724 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 73765688 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022102
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022102]
|
| AlphaFold |
Q8BXA5 |
| Predicted Effect |
probably benign
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: 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610042L04Rik |
G |
A |
14: 4,350,856 (GRCm38) |
G130D |
probably damaging |
Het |
| Abca8b |
T |
A |
11: 109,862,589 (GRCm39) |
D392V |
probably damaging |
Het |
| Cep43 |
A |
T |
17: 8,411,109 (GRCm39) |
D354V |
probably damaging |
Het |
| Creb3l1 |
G |
A |
2: 91,823,678 (GRCm39) |
T178I |
probably benign |
Het |
| Ctsd |
A |
G |
7: 141,930,336 (GRCm39) |
|
probably null |
Het |
| Dcstamp |
A |
T |
15: 39,623,755 (GRCm39) |
I401F |
possibly damaging |
Het |
| Dnah5 |
A |
G |
15: 28,370,682 (GRCm39) |
D2874G |
probably benign |
Het |
| Fcsk |
A |
G |
8: 111,620,034 (GRCm39) |
F281S |
probably damaging |
Het |
| Fli1 |
T |
A |
9: 32,335,503 (GRCm39) |
K310* |
probably null |
Het |
| Fndc4 |
C |
T |
5: 31,452,556 (GRCm39) |
|
probably null |
Het |
| Gc |
G |
A |
5: 89,569,981 (GRCm39) |
|
probably benign |
Het |
| Krtap26-1 |
A |
G |
16: 88,444,556 (GRCm39) |
C22R |
probably damaging |
Het |
| Obscn |
C |
T |
11: 58,911,367 (GRCm39) |
G6422S |
probably benign |
Het |
| Or10d5 |
C |
A |
9: 39,861,536 (GRCm39) |
C177F |
probably damaging |
Het |
| Or10j2 |
T |
A |
1: 173,097,919 (GRCm39) |
M59K |
probably damaging |
Het |
| Or5b21 |
T |
A |
19: 12,839,746 (GRCm39) |
F202L |
probably benign |
Het |
| Pgr |
C |
T |
9: 8,922,669 (GRCm39) |
P613L |
probably damaging |
Het |
| Pnpla8 |
C |
A |
12: 44,342,816 (GRCm39) |
A524E |
possibly damaging |
Het |
| Psma2 |
A |
T |
13: 14,793,948 (GRCm39) |
I105F |
probably damaging |
Het |
| Ptprg |
A |
G |
14: 12,220,661 (GRCm38) |
R458G |
probably damaging |
Het |
| Rbm44 |
A |
G |
1: 91,090,830 (GRCm39) |
I755V |
probably benign |
Het |
| Rev3l |
A |
G |
10: 39,698,733 (GRCm39) |
K1077E |
possibly damaging |
Het |
| Rps20 |
A |
C |
4: 3,834,494 (GRCm39) |
|
probably benign |
Het |
| Sel1l3 |
A |
C |
5: 53,357,680 (GRCm39) |
V104G |
probably damaging |
Het |
| Sirpb1c |
T |
C |
3: 15,892,937 (GRCm39) |
N89S |
probably benign |
Het |
| Slc25a16 |
G |
A |
10: 62,766,220 (GRCm39) |
|
probably null |
Het |
| Sulf1 |
C |
T |
1: 12,888,731 (GRCm39) |
R339C |
probably damaging |
Het |
| Tedc2 |
C |
T |
17: 24,436,926 (GRCm39) |
A270T |
probably benign |
Het |
| Trem3 |
T |
C |
17: 48,554,880 (GRCm39) |
S2P |
possibly damaging |
Het |
| Vps37a |
G |
T |
8: 40,993,771 (GRCm39) |
Q255H |
probably damaging |
Het |
| Zfp352 |
C |
T |
4: 90,112,391 (GRCm39) |
A177V |
possibly damaging |
Het |
|
| Other mutations in Clptm1l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01672:Clptm1l
|
APN |
13 |
73,755,992 (GRCm39) |
splice site |
probably null |
|
|
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 |
2014-05-07 |
Incidental Mutation