Incidental Mutation 'R3003:Clptm1l'
ID |
257372 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Clptm1l
|
Ensembl Gene |
ENSMUSG00000021610 |
Gene Name |
CLPTM1-like |
Synonyms |
C130052I12Rik |
MMRRC Submission |
040532-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3003 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
73752125-73768724 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 73765875 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 471
(T471I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022102
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022102]
|
AlphaFold |
Q8BXA5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022102
AA Change: T471I
PolyPhen 2
Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000022102 Gene: ENSMUSG00000021610 AA Change: T471I
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 |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
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: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc1 |
T |
C |
16: 14,254,393 (GRCm39) |
V568A |
probably damaging |
Het |
Acd |
C |
T |
8: 106,426,913 (GRCm39) |
|
probably null |
Het |
Acly |
T |
C |
11: 100,395,053 (GRCm39) |
K469E |
possibly damaging |
Het |
Adh6b |
G |
T |
3: 138,063,532 (GRCm39) |
L248F |
possibly damaging |
Het |
Atg9b |
G |
T |
5: 24,596,217 (GRCm39) |
D192E |
probably damaging |
Het |
Ccdc180 |
A |
G |
4: 45,899,988 (GRCm39) |
D182G |
probably benign |
Het |
Cep112 |
A |
G |
11: 108,331,329 (GRCm39) |
E178G |
probably damaging |
Het |
Csmd1 |
A |
G |
8: 16,246,184 (GRCm39) |
F1072L |
probably damaging |
Het |
Eprs1 |
T |
C |
1: 185,156,588 (GRCm39) |
|
probably null |
Het |
Il27ra |
G |
T |
8: 84,758,660 (GRCm39) |
S499* |
probably null |
Het |
Klk1b11 |
T |
C |
7: 43,426,419 (GRCm39) |
I51T |
probably damaging |
Het |
Lct |
T |
C |
1: 128,231,963 (GRCm39) |
M629V |
probably damaging |
Het |
Mprip |
A |
G |
11: 59,618,381 (GRCm39) |
T91A |
possibly damaging |
Het |
Pfpl |
T |
C |
19: 12,407,690 (GRCm39) |
I647T |
possibly damaging |
Het |
Plxnc1 |
A |
T |
10: 94,629,080 (GRCm39) |
F1565I |
probably damaging |
Het |
Prr5 |
G |
T |
15: 84,656,031 (GRCm39) |
C344F |
probably damaging |
Het |
Rnf17 |
T |
C |
14: 56,738,004 (GRCm39) |
W1262R |
probably damaging |
Het |
Rptor |
G |
A |
11: 119,763,197 (GRCm39) |
R927Q |
possibly damaging |
Het |
Slitrk5 |
A |
G |
14: 111,917,014 (GRCm39) |
K213E |
probably damaging |
Het |
Smarcd1 |
C |
A |
15: 99,610,065 (GRCm39) |
P432Q |
probably damaging |
Het |
Stat4 |
A |
G |
1: 52,142,145 (GRCm39) |
D664G |
probably damaging |
Het |
Suz12 |
T |
A |
11: 79,910,587 (GRCm39) |
W313R |
probably damaging |
Het |
Sycp2 |
T |
C |
2: 177,999,916 (GRCm39) |
Y1020C |
probably benign |
Het |
Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
Tmem81 |
A |
G |
1: 132,435,752 (GRCm39) |
N186S |
probably benign |
Het |
Tut4 |
G |
A |
4: 108,370,125 (GRCm39) |
E714K |
probably damaging |
Het |
Vmn2r98 |
A |
G |
17: 19,286,125 (GRCm39) |
M208V |
probably benign |
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 |
|
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGCCAGCAGAGGTCTTTTG -3'
(R):5'- TGAGAACCTTTATCCTGTGTGG -3'
Sequencing Primer
(F):5'- CCCCAGCAGAATGTATGTTTG -3'
(R):5'- AGAACCTTTATCCTGTGTGGTTTGTG -3'
|
Posted On |
2015-01-11 |