Incidental Mutation 'P0023:Clptm1l'
| ID |
15498 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clptm1l
|
| Ensembl Gene |
ENSMUSG00000021610 |
| Gene Name |
CLPTM1-like |
| Synonyms |
C130052I12Rik |
| MMRRC Submission |
038276-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
P0023 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
73752125-73768724 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 73753071 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 62
(R62L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022102
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022102]
|
| AlphaFold |
Q8BXA5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022102
AA Change: R62L
PolyPhen 2
Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000022102
Gene: ENSMUSG00000021610
AA Change: R62L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CLPTM1
|
10 |
423 |
3.2e-134 |
PFAM |
|
transmembrane domain
|
428 |
450 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 85.1%
- 3x: 76.2%
- 10x: 34.8%
- 20x: 2.4%
|
| Validation Efficiency |
97% (62/64) |
| 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: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr3 |
A |
T |
1: 125,322,803 (GRCm39) |
|
probably null |
Het |
| Chp2 |
A |
G |
7: 121,821,361 (GRCm39) |
N185S |
probably benign |
Het |
| Cited2 |
A |
G |
10: 17,600,463 (GRCm39) |
D257G |
probably damaging |
Het |
| Cmya5 |
C |
T |
13: 93,225,854 (GRCm39) |
S3078N |
probably benign |
Het |
| Dcaf1 |
T |
A |
9: 106,737,650 (GRCm39) |
F1169I |
probably benign |
Het |
| Efhc1 |
G |
A |
1: 21,025,751 (GRCm39) |
V86I |
probably benign |
Het |
| Fanci |
A |
C |
7: 79,052,048 (GRCm39) |
D107A |
probably benign |
Het |
| Fyb1 |
A |
T |
15: 6,681,335 (GRCm39) |
K74M |
probably damaging |
Het |
| Gapvd1 |
A |
G |
2: 34,596,700 (GRCm39) |
|
probably benign |
Het |
| Gm11992 |
T |
C |
11: 9,002,846 (GRCm39) |
Y70H |
probably damaging |
Het |
| Lrba |
A |
G |
3: 86,325,242 (GRCm39) |
E1900G |
probably damaging |
Het |
| Lrpprc |
G |
A |
17: 85,033,766 (GRCm39) |
T1037M |
probably benign |
Het |
| Or8b50 |
A |
G |
9: 38,517,941 (GRCm39) |
Y60C |
probably damaging |
Het |
| Piezo2 |
A |
G |
18: 63,519,271 (GRCm39) |
|
probably benign |
Het |
| Pld1 |
T |
C |
3: 28,102,274 (GRCm39) |
S342P |
probably damaging |
Het |
| Prkag3 |
A |
G |
1: 74,779,898 (GRCm39) |
L479P |
probably damaging |
Het |
| Rsf1 |
T |
C |
7: 97,311,478 (GRCm39) |
I736T |
probably damaging |
Het |
| Tet2 |
C |
A |
3: 133,192,654 (GRCm39) |
M593I |
probably benign |
Het |
| Ttpal |
T |
C |
2: 163,453,729 (GRCm39) |
Y167H |
probably 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 |
|
|
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 |
|
|
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 |
2012-12-21 |
Incidental Mutation