Incidental Mutation 'R1429:Cpxm1'
ID |
161430 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cpxm1
|
Ensembl Gene |
ENSMUSG00000027408 |
Gene Name |
carboxypeptidase X, M14 family member 1 |
Synonyms |
Cpx-1 |
MMRRC Submission |
039485-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.462)
|
Stock # |
R1429 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
130232695-130239494 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 130238364 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 66
(I66N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028897
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028897]
|
AlphaFold |
Q9Z100 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000028897
AA Change: I66N
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000028897 Gene: ENSMUSG00000027408 AA Change: I66N
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: ENSMUST00000120139
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130533
|
Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.2%
- 20x: 89.4%
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930433I11Rik |
A |
T |
7: 40,642,480 (GRCm39) |
T141S |
probably benign |
Het |
Alg8 |
C |
T |
7: 97,039,499 (GRCm39) |
A410V |
probably benign |
Het |
Arhgef4 |
A |
G |
1: 34,849,420 (GRCm39) |
Y481C |
probably damaging |
Het |
Armc8 |
A |
G |
9: 99,418,260 (GRCm39) |
V56A |
possibly damaging |
Het |
Cactin |
T |
C |
10: 81,159,512 (GRCm39) |
I23T |
probably damaging |
Het |
Cdh15 |
G |
C |
8: 123,584,234 (GRCm39) |
E112Q |
probably damaging |
Het |
Cfap54 |
T |
C |
10: 92,656,900 (GRCm39) |
I3051V |
probably benign |
Het |
Ddx50 |
G |
A |
10: 62,482,847 (GRCm39) |
T74I |
possibly damaging |
Het |
Dnah7b |
G |
T |
1: 46,328,816 (GRCm39) |
D3183Y |
possibly damaging |
Het |
Dsg1b |
A |
G |
18: 20,523,252 (GRCm39) |
D93G |
probably damaging |
Het |
Ess2 |
G |
A |
16: 17,720,069 (GRCm39) |
R427* |
probably null |
Het |
Fam135a |
T |
G |
1: 24,083,348 (GRCm39) |
K292N |
probably damaging |
Het |
Fam83b |
G |
T |
9: 76,399,859 (GRCm39) |
R415S |
probably benign |
Het |
Fxyd3 |
T |
A |
7: 30,773,046 (GRCm39) |
M1L |
probably benign |
Het |
Gm5134 |
T |
A |
10: 75,814,215 (GRCm39) |
M193K |
probably damaging |
Het |
Golgb1 |
A |
G |
16: 36,720,925 (GRCm39) |
E427G |
possibly damaging |
Het |
Gpat3 |
G |
A |
5: 101,040,953 (GRCm39) |
G338S |
probably damaging |
Het |
Hmgxb3 |
C |
T |
18: 61,283,505 (GRCm39) |
R606Q |
probably damaging |
Het |
Itgb1 |
T |
C |
8: 129,444,157 (GRCm39) |
|
probably null |
Het |
Myh1 |
C |
A |
11: 67,108,736 (GRCm39) |
T1384K |
possibly damaging |
Het |
Myo3b |
A |
C |
2: 70,083,351 (GRCm39) |
Q640P |
probably damaging |
Het |
Naa16 |
A |
G |
14: 79,596,967 (GRCm39) |
V305A |
probably benign |
Het |
Or5h17 |
G |
A |
16: 58,820,501 (GRCm39) |
G151D |
possibly damaging |
Het |
Pgap1 |
T |
C |
1: 54,534,020 (GRCm39) |
D631G |
probably benign |
Het |
Phc2 |
C |
A |
4: 128,637,348 (GRCm39) |
P51Q |
probably damaging |
Het |
Pmel |
G |
A |
10: 128,554,861 (GRCm39) |
|
probably null |
Het |
Rassf8 |
G |
T |
6: 145,760,916 (GRCm39) |
G81W |
probably damaging |
Het |
Rfx2 |
G |
T |
17: 57,111,369 (GRCm39) |
Q68K |
probably damaging |
Het |
Rps24 |
A |
G |
14: 24,541,830 (GRCm39) |
T6A |
probably damaging |
Het |
Rsbn1l |
A |
G |
5: 21,125,016 (GRCm39) |
L262S |
probably damaging |
Het |
S100a16 |
A |
C |
3: 90,449,391 (GRCm39) |
Y22S |
probably damaging |
Het |
Stx19 |
G |
A |
16: 62,642,960 (GRCm39) |
V259I |
possibly damaging |
Het |
Tas2r105 |
T |
C |
6: 131,663,904 (GRCm39) |
I175V |
probably benign |
Het |
Vmn2r67 |
T |
A |
7: 84,802,031 (GRCm39) |
H90L |
possibly damaging |
Het |
Wscd1 |
T |
A |
11: 71,651,000 (GRCm39) |
L109Q |
probably damaging |
Het |
Zfp423 |
T |
A |
8: 88,413,070 (GRCm39) |
Q1154L |
probably damaging |
Het |
Zmym6 |
T |
C |
4: 127,017,672 (GRCm39) |
L1059P |
probably damaging |
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 |
IGL01981:Cpxm1
|
APN |
2 |
130,236,060 (GRCm39) |
nonsense |
probably null |
|
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TCGGTGTGCTCCAAGACCAAAG -3'
(R):5'- CCAGTCTCTAATGGCTCAGTGTTGC -3'
Sequencing Primer
(F):5'- TGGCTATCTGAAACCCTCAAGG -3'
(R):5'- CGTGAGCCAAAGATGTTGTG -3'
|
Posted On |
2014-03-14 |