Incidental Mutation 'IGL01981:Cpxm1'
| ID |
183490 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cpxm1
|
| Ensembl Gene |
ENSMUSG00000027408 |
| Gene Name |
carboxypeptidase X, M14 family member 1 |
| Synonyms |
Cpx-1 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.462)
|
| Stock # |
IGL01981
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
130232695-130239494 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 130236060 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 367
(C367*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028897
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028897]
|
| AlphaFold |
Q9Z100 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000028897
AA Change: C367*
|
| SMART Domains |
Protein: ENSMUSP00000028897
Gene: ENSMUSG00000027408
AA Change: C367*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
56 |
75 |
N/A |
INTRINSIC |
|
FA58C
|
104 |
263 |
1.44e-28 |
SMART |
|
Zn_pept
|
410 |
699 |
5.77e-50 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130533
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene likely encodes a member of the carboxypeptidase family of proteins. Cloning of a comparable locus in mouse indicates that the encoded protein contains a discoidin domain and a carboxypeptidase domain, but the protein appears to lack residues necessary for carboxypeptidase activity.[provided by RefSeq, May 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akt2 |
A |
C |
7: 27,337,499 (GRCm39) |
D417A |
probably benign |
Het |
| Ap1b1 |
T |
A |
11: 4,969,336 (GRCm39) |
S231T |
possibly damaging |
Het |
| Arhgap31 |
G |
A |
16: 38,421,935 (GRCm39) |
T1377I |
probably damaging |
Het |
| Cdkl3 |
A |
G |
11: 51,895,896 (GRCm39) |
T48A |
probably benign |
Het |
| Chd3 |
T |
C |
11: 69,251,501 (GRCm39) |
Y510C |
probably damaging |
Het |
| Chml |
A |
G |
1: 175,515,751 (GRCm39) |
S57P |
probably damaging |
Het |
| D930020B18Rik |
A |
G |
10: 121,528,319 (GRCm39) |
T428A |
probably damaging |
Het |
| Dnaja3 |
A |
T |
16: 4,519,033 (GRCm39) |
I325F |
probably damaging |
Het |
| Efcab3 |
A |
T |
11: 104,612,258 (GRCm39) |
|
probably benign |
Het |
| Erbb3 |
A |
G |
10: 128,407,519 (GRCm39) |
V943A |
probably benign |
Het |
| Fam110b |
A |
G |
4: 5,799,481 (GRCm39) |
I300V |
probably benign |
Het |
| Fam193a |
A |
G |
5: 34,588,537 (GRCm39) |
E76G |
probably damaging |
Het |
| Fbxl3 |
G |
A |
14: 103,332,900 (GRCm39) |
T26M |
possibly damaging |
Het |
| Furin |
A |
G |
7: 80,042,647 (GRCm39) |
L380P |
probably damaging |
Het |
| Fxr2 |
A |
C |
11: 69,541,328 (GRCm39) |
I354L |
possibly damaging |
Het |
| Garnl3 |
G |
T |
2: 32,887,741 (GRCm39) |
N756K |
probably damaging |
Het |
| Gimap1 |
A |
G |
6: 48,720,258 (GRCm39) |
Y290C |
probably damaging |
Het |
| Gm5592 |
G |
A |
7: 40,935,795 (GRCm39) |
W99* |
probably null |
Het |
| Hexd |
G |
T |
11: 121,107,819 (GRCm39) |
S183I |
possibly damaging |
Het |
| Hmg20a |
C |
T |
9: 56,384,514 (GRCm39) |
P95S |
probably damaging |
Het |
| Jhy |
A |
T |
9: 40,806,842 (GRCm39) |
I769N |
probably damaging |
Het |
| Lrrd1 |
G |
T |
5: 3,901,267 (GRCm39) |
C524F |
probably damaging |
Het |
| Musk |
C |
A |
4: 58,296,629 (GRCm39) |
S76R |
probably damaging |
Het |
| Myom3 |
C |
T |
4: 135,513,160 (GRCm39) |
R613* |
probably null |
Het |
| Naa16 |
T |
A |
14: 79,618,956 (GRCm39) |
E172D |
probably benign |
Het |
| Obox6 |
A |
T |
7: 15,568,846 (GRCm39) |
M10K |
possibly damaging |
Het |
| Or5al5 |
A |
T |
2: 85,961,174 (GRCm39) |
Y278N |
probably benign |
Het |
| Pam |
C |
T |
1: 97,762,166 (GRCm39) |
V700M |
probably damaging |
Het |
| Phf8-ps |
C |
T |
17: 33,286,628 (GRCm39) |
G58E |
probably damaging |
Het |
| Pkd1l2 |
C |
A |
8: 117,743,655 (GRCm39) |
R1978L |
probably benign |
Het |
| Pkhd1 |
T |
A |
1: 20,593,791 (GRCm39) |
T1441S |
possibly damaging |
Het |
| Plg |
A |
G |
17: 12,621,934 (GRCm39) |
|
probably benign |
Het |
| Pot1a |
A |
G |
6: 25,750,099 (GRCm39) |
L521P |
probably damaging |
Het |
| Pramel14 |
G |
A |
4: 143,720,924 (GRCm39) |
P6S |
probably damaging |
Het |
| Ptprj |
A |
T |
2: 90,270,256 (GRCm39) |
V1280E |
probably damaging |
Het |
| Rcbtb2 |
T |
C |
14: 73,402,222 (GRCm39) |
S136P |
possibly damaging |
Het |
| Rtl1 |
C |
T |
12: 109,558,369 (GRCm39) |
E1157K |
possibly damaging |
Het |
| Sell |
G |
A |
1: 163,893,195 (GRCm39) |
R137Q |
probably benign |
Het |
| Shisa9 |
A |
T |
16: 12,062,522 (GRCm39) |
M248L |
probably benign |
Het |
| Spag17 |
A |
G |
3: 99,966,149 (GRCm39) |
E1144G |
probably benign |
Het |
| Sphk2 |
G |
T |
7: 45,360,157 (GRCm39) |
Q616K |
probably benign |
Het |
| Tecrl |
T |
C |
5: 83,442,453 (GRCm39) |
T207A |
probably benign |
Het |
| Ubr5 |
T |
C |
15: 37,996,842 (GRCm39) |
T1885A |
probably benign |
Het |
| Usp24 |
T |
C |
4: 106,232,965 (GRCm39) |
|
probably benign |
Het |
| Usp32 |
A |
G |
11: 84,927,350 (GRCm39) |
M622T |
probably benign |
Het |
| Vangl1 |
A |
G |
3: 102,091,607 (GRCm39) |
F160L |
probably damaging |
Het |
| Vps13d |
T |
C |
4: 144,813,317 (GRCm39) |
S3289G |
probably damaging |
Het |
| Wdfy4 |
A |
G |
14: 32,855,673 (GRCm39) |
F647S |
probably damaging |
Het |
| Wdhd1 |
A |
G |
14: 47,498,907 (GRCm39) |
L509P |
probably damaging |
Het |
| Zcchc2 |
A |
G |
1: 105,955,229 (GRCm39) |
E640G |
probably damaging |
Het |
| Zfp563 |
T |
A |
17: 33,324,383 (GRCm39) |
I326N |
probably benign |
Het |
|
| Other mutations in Cpxm1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00264:Cpxm1
|
APN |
2 |
130,237,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01327:Cpxm1
|
APN |
2 |
130,238,277 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01373:Cpxm1
|
APN |
2 |
130,236,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01622:Cpxm1
|
APN |
2 |
130,233,191 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01623:Cpxm1
|
APN |
2 |
130,233,191 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02031:Cpxm1
|
APN |
2 |
130,235,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02369:Cpxm1
|
APN |
2 |
130,238,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03057:Cpxm1
|
APN |
2 |
130,235,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB007:Cpxm1
|
UTSW |
2 |
130,236,982 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
BB017:Cpxm1
|
UTSW |
2 |
130,236,982 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0316:Cpxm1
|
UTSW |
2 |
130,235,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0544:Cpxm1
|
UTSW |
2 |
130,235,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0726:Cpxm1
|
UTSW |
2 |
130,232,859 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0944:Cpxm1
|
UTSW |
2 |
130,239,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1334:Cpxm1
|
UTSW |
2 |
130,235,483 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1366:Cpxm1
|
UTSW |
2 |
130,238,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1429:Cpxm1
|
UTSW |
2 |
130,238,364 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1654:Cpxm1
|
UTSW |
2 |
130,235,466 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R1824:Cpxm1
|
UTSW |
2 |
130,237,617 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2144:Cpxm1
|
UTSW |
2 |
130,239,330 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2200:Cpxm1
|
UTSW |
2 |
130,235,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2320:Cpxm1
|
UTSW |
2 |
130,236,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2434:Cpxm1
|
UTSW |
2 |
130,236,004 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3118:Cpxm1
|
UTSW |
2 |
130,235,493 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4601:Cpxm1
|
UTSW |
2 |
130,235,496 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5020:Cpxm1
|
UTSW |
2 |
130,237,897 (GRCm39) |
splice site |
probably null |
|
|
R5041:Cpxm1
|
UTSW |
2 |
130,235,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5727:Cpxm1
|
UTSW |
2 |
130,232,883 (GRCm39) |
nonsense |
probably null |
|
|
R5806:Cpxm1
|
UTSW |
2 |
130,239,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6660:Cpxm1
|
UTSW |
2 |
130,238,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7431:Cpxm1
|
UTSW |
2 |
130,235,966 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7491:Cpxm1
|
UTSW |
2 |
130,235,487 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7743:Cpxm1
|
UTSW |
2 |
130,235,342 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7930:Cpxm1
|
UTSW |
2 |
130,236,982 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8375:Cpxm1
|
UTSW |
2 |
130,236,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8783:Cpxm1
|
UTSW |
2 |
130,237,643 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8900:Cpxm1
|
UTSW |
2 |
130,235,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9738:Cpxm1
|
UTSW |
2 |
130,235,302 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation