Incidental Mutation 'IGL02063:Cped1'
ID |
185509 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cped1
|
Ensembl Gene |
ENSMUSG00000062980 |
Gene Name |
cadherin-like and PC-esterase domain containing 1 |
Synonyms |
A430107O13Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.070)
|
Stock # |
IGL02063
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
21985915-22256403 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 22138701 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Tyrosine
at position 560
(C560Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000111041
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115383]
|
AlphaFold |
B2RX70 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000115383
AA Change: C560Y
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000111041 Gene: ENSMUSG00000062980 AA Change: C560Y
Domain | Start | End | E-Value | Type |
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
low complexity region
|
110 |
122 |
N/A |
INTRINSIC |
low complexity region
|
133 |
147 |
N/A |
INTRINSIC |
Pfam:Cadherin-like
|
574 |
663 |
1e-9 |
PFAM |
Pfam:PC-Esterase
|
753 |
1018 |
2e-26 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000137437
AA Change: C422Y
|
SMART Domains |
Protein: ENSMUSP00000119808 Gene: ENSMUSG00000062980 AA Change: C422Y
Domain | Start | End | E-Value | Type |
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
low complexity region
|
110 |
122 |
N/A |
INTRINSIC |
low complexity region
|
133 |
147 |
N/A |
INTRINSIC |
Pfam:Cadherin-like
|
570 |
663 |
6.2e-12 |
PFAM |
Pfam:PC-Esterase
|
753 |
963 |
1.6e-33 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154734
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atg2b |
A |
G |
12: 105,614,581 (GRCm39) |
Y1117H |
possibly damaging |
Het |
B020004C17Rik |
A |
G |
14: 57,253,480 (GRCm39) |
R24G |
probably damaging |
Het |
BC005624 |
A |
G |
2: 30,868,946 (GRCm39) |
M76T |
probably benign |
Het |
Blm |
G |
T |
7: 80,159,167 (GRCm39) |
S323* |
probably null |
Het |
Card19 |
C |
A |
13: 49,356,607 (GRCm39) |
G181* |
probably null |
Het |
Cilp2 |
T |
C |
8: 70,335,515 (GRCm39) |
I494M |
probably damaging |
Het |
Col5a2 |
A |
G |
1: 45,442,579 (GRCm39) |
|
probably null |
Het |
Col6a4 |
T |
C |
9: 105,934,617 (GRCm39) |
D1431G |
probably benign |
Het |
Cyfip1 |
T |
C |
7: 55,576,096 (GRCm39) |
S1091P |
probably damaging |
Het |
Ddx24 |
A |
G |
12: 103,384,461 (GRCm39) |
I466T |
probably damaging |
Het |
Dlg2 |
T |
A |
7: 91,459,684 (GRCm39) |
|
probably benign |
Het |
Esf1 |
C |
A |
2: 140,006,377 (GRCm39) |
D257Y |
possibly damaging |
Het |
Fgfr2 |
A |
G |
7: 129,769,485 (GRCm39) |
F634S |
probably damaging |
Het |
Flywch2 |
A |
G |
17: 23,996,081 (GRCm39) |
|
probably benign |
Het |
Gbp10 |
A |
T |
5: 105,383,906 (GRCm39) |
I32N |
possibly damaging |
Het |
Gli3 |
A |
G |
13: 15,900,957 (GRCm39) |
D1448G |
possibly damaging |
Het |
Gm10335 |
T |
C |
10: 14,399,147 (GRCm39) |
|
probably benign |
Het |
Golga5 |
A |
T |
12: 102,438,418 (GRCm39) |
E44D |
probably benign |
Het |
H2-M10.1 |
C |
T |
17: 36,634,901 (GRCm39) |
|
probably benign |
Het |
Ino80b |
A |
T |
6: 83,101,143 (GRCm39) |
D141E |
probably damaging |
Het |
Itpr3 |
A |
G |
17: 27,338,997 (GRCm39) |
I2593V |
probably benign |
Het |
Krt73 |
C |
T |
15: 101,704,204 (GRCm39) |
|
probably benign |
Het |
Loxl4 |
G |
T |
19: 42,596,778 (GRCm39) |
L78I |
probably benign |
Het |
Mbd5 |
A |
T |
2: 49,164,779 (GRCm39) |
N360I |
probably damaging |
Het |
Nfat5 |
A |
T |
8: 108,088,450 (GRCm39) |
M495L |
probably benign |
Het |
Nrxn3 |
A |
T |
12: 88,762,565 (GRCm39) |
E204V |
possibly damaging |
Het |
Or8k21 |
G |
T |
2: 86,145,137 (GRCm39) |
F164L |
possibly damaging |
Het |
Paqr4 |
A |
T |
17: 23,958,886 (GRCm39) |
C38* |
probably null |
Het |
Pcdhb13 |
T |
A |
18: 37,577,282 (GRCm39) |
N553K |
probably damaging |
Het |
Pcdhb9 |
T |
A |
18: 37,534,810 (GRCm39) |
M268K |
probably benign |
Het |
Pdap1 |
A |
T |
5: 145,071,869 (GRCm39) |
|
probably benign |
Het |
Phf2 |
A |
T |
13: 48,975,118 (GRCm39) |
Y281N |
unknown |
Het |
Phka2 |
T |
A |
X: 159,347,209 (GRCm39) |
I664N |
possibly damaging |
Het |
Plekha7 |
A |
T |
7: 115,739,936 (GRCm39) |
D762E |
possibly damaging |
Het |
Plekhg4 |
T |
A |
8: 106,105,884 (GRCm39) |
|
probably benign |
Het |
Ppfia2 |
A |
T |
10: 106,740,706 (GRCm39) |
Q1006L |
probably null |
Het |
Pramel12 |
C |
A |
4: 143,144,421 (GRCm39) |
Q256K |
probably benign |
Het |
Prmt5 |
G |
A |
14: 54,748,477 (GRCm39) |
Q197* |
probably null |
Het |
Prodh |
A |
T |
16: 17,897,049 (GRCm39) |
|
probably null |
Het |
Ptgr3 |
T |
A |
18: 84,113,390 (GRCm39) |
Y355* |
probably null |
Het |
Rnft2 |
A |
G |
5: 118,380,587 (GRCm39) |
|
probably benign |
Het |
Rp1l1 |
G |
T |
14: 64,266,985 (GRCm39) |
S857I |
probably damaging |
Het |
Samd9l |
A |
G |
6: 3,372,992 (GRCm39) |
F1423S |
probably damaging |
Het |
Scn3a |
A |
G |
2: 65,291,854 (GRCm39) |
Y1631H |
probably damaging |
Het |
Slc22a5 |
A |
T |
11: 53,765,899 (GRCm39) |
I229K |
probably damaging |
Het |
Slco1a7 |
T |
C |
6: 141,684,615 (GRCm39) |
D280G |
probably benign |
Het |
Snd1 |
T |
A |
6: 28,526,220 (GRCm39) |
|
probably benign |
Het |
Srrm1 |
G |
T |
4: 135,074,518 (GRCm39) |
|
probably null |
Het |
Syne2 |
T |
C |
12: 76,098,874 (GRCm39) |
V5252A |
probably damaging |
Het |
Tek |
A |
G |
4: 94,627,882 (GRCm39) |
D2G |
probably benign |
Het |
Uba1 |
T |
C |
X: 20,545,964 (GRCm39) |
S803P |
probably damaging |
Het |
Uggt2 |
A |
G |
14: 119,326,605 (GRCm39) |
I202T |
possibly damaging |
Het |
Umodl1 |
A |
T |
17: 31,206,888 (GRCm39) |
I760F |
probably benign |
Het |
Vgll1 |
A |
G |
X: 56,144,569 (GRCm39) |
|
probably benign |
Het |
Zfp236 |
A |
G |
18: 82,676,276 (GRCm39) |
V347A |
probably benign |
Het |
Zswim9 |
T |
C |
7: 12,994,608 (GRCm39) |
E516G |
probably damaging |
Het |
|
Other mutations in Cped1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00509:Cped1
|
APN |
6 |
22,215,522 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00909:Cped1
|
APN |
6 |
22,122,426 (GRCm39) |
splice site |
probably benign |
|
IGL01434:Cped1
|
APN |
6 |
22,017,004 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01572:Cped1
|
APN |
6 |
22,051,300 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02216:Cped1
|
APN |
6 |
22,059,944 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02257:Cped1
|
APN |
6 |
22,145,606 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL02541:Cped1
|
APN |
6 |
22,120,988 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03008:Cped1
|
APN |
6 |
22,233,601 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03237:Cped1
|
APN |
6 |
22,233,595 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4382001:Cped1
|
UTSW |
6 |
22,222,449 (GRCm39) |
nonsense |
probably null |
|
PIT4812001:Cped1
|
UTSW |
6 |
22,122,293 (GRCm39) |
missense |
probably benign |
0.02 |
R0048:Cped1
|
UTSW |
6 |
22,119,601 (GRCm39) |
missense |
probably benign |
0.08 |
R0128:Cped1
|
UTSW |
6 |
22,121,038 (GRCm39) |
missense |
probably benign |
0.00 |
R0130:Cped1
|
UTSW |
6 |
22,121,038 (GRCm39) |
missense |
probably benign |
0.00 |
R0267:Cped1
|
UTSW |
6 |
22,119,475 (GRCm39) |
missense |
probably damaging |
0.99 |
R0374:Cped1
|
UTSW |
6 |
22,222,545 (GRCm39) |
splice site |
probably benign |
|
R0482:Cped1
|
UTSW |
6 |
22,016,957 (GRCm39) |
missense |
probably benign |
0.32 |
R0734:Cped1
|
UTSW |
6 |
22,085,040 (GRCm39) |
missense |
probably damaging |
1.00 |
R1033:Cped1
|
UTSW |
6 |
22,016,950 (GRCm39) |
missense |
probably damaging |
0.99 |
R1118:Cped1
|
UTSW |
6 |
22,237,698 (GRCm39) |
missense |
probably benign |
0.19 |
R1181:Cped1
|
UTSW |
6 |
22,215,561 (GRCm39) |
missense |
probably damaging |
0.99 |
R1300:Cped1
|
UTSW |
6 |
22,119,552 (GRCm39) |
missense |
probably benign |
0.00 |
R1485:Cped1
|
UTSW |
6 |
22,132,387 (GRCm39) |
critical splice donor site |
probably null |
|
R1507:Cped1
|
UTSW |
6 |
22,122,260 (GRCm39) |
missense |
probably damaging |
1.00 |
R1830:Cped1
|
UTSW |
6 |
22,237,727 (GRCm39) |
missense |
probably damaging |
1.00 |
R1879:Cped1
|
UTSW |
6 |
22,085,014 (GRCm39) |
splice site |
probably null |
|
R1902:Cped1
|
UTSW |
6 |
22,120,980 (GRCm39) |
splice site |
probably null |
|
R1991:Cped1
|
UTSW |
6 |
22,233,926 (GRCm39) |
missense |
probably damaging |
1.00 |
R2020:Cped1
|
UTSW |
6 |
22,143,963 (GRCm39) |
missense |
probably benign |
0.38 |
R2883:Cped1
|
UTSW |
6 |
22,143,978 (GRCm39) |
missense |
probably damaging |
1.00 |
R3011:Cped1
|
UTSW |
6 |
22,088,695 (GRCm39) |
missense |
probably damaging |
1.00 |
R4466:Cped1
|
UTSW |
6 |
22,123,651 (GRCm39) |
missense |
probably benign |
0.29 |
R4668:Cped1
|
UTSW |
6 |
22,237,652 (GRCm39) |
missense |
probably benign |
0.06 |
R4808:Cped1
|
UTSW |
6 |
22,088,756 (GRCm39) |
missense |
probably damaging |
1.00 |
R5402:Cped1
|
UTSW |
6 |
22,143,951 (GRCm39) |
missense |
probably benign |
0.05 |
R5417:Cped1
|
UTSW |
6 |
22,233,579 (GRCm39) |
missense |
probably null |
0.01 |
R5741:Cped1
|
UTSW |
6 |
22,123,620 (GRCm39) |
missense |
probably benign |
0.02 |
R5821:Cped1
|
UTSW |
6 |
22,138,681 (GRCm39) |
missense |
probably benign |
0.00 |
R5977:Cped1
|
UTSW |
6 |
22,254,607 (GRCm39) |
missense |
probably damaging |
1.00 |
R6255:Cped1
|
UTSW |
6 |
22,138,714 (GRCm39) |
splice site |
probably null |
|
R6304:Cped1
|
UTSW |
6 |
22,016,922 (GRCm39) |
missense |
probably benign |
0.14 |
R6416:Cped1
|
UTSW |
6 |
22,123,648 (GRCm39) |
missense |
probably damaging |
1.00 |
R6444:Cped1
|
UTSW |
6 |
21,986,930 (GRCm39) |
missense |
probably benign |
0.00 |
R6617:Cped1
|
UTSW |
6 |
22,215,546 (GRCm39) |
nonsense |
probably null |
|
R6650:Cped1
|
UTSW |
6 |
22,233,975 (GRCm39) |
missense |
probably damaging |
1.00 |
R7048:Cped1
|
UTSW |
6 |
22,119,469 (GRCm39) |
missense |
probably benign |
0.36 |
R7083:Cped1
|
UTSW |
6 |
22,123,579 (GRCm39) |
missense |
probably benign |
0.01 |
R7234:Cped1
|
UTSW |
6 |
22,254,625 (GRCm39) |
missense |
probably damaging |
0.99 |
R7387:Cped1
|
UTSW |
6 |
22,059,933 (GRCm39) |
missense |
probably benign |
0.01 |
R7493:Cped1
|
UTSW |
6 |
22,215,512 (GRCm39) |
missense |
probably damaging |
1.00 |
R7720:Cped1
|
UTSW |
6 |
22,222,430 (GRCm39) |
missense |
probably damaging |
1.00 |
R7747:Cped1
|
UTSW |
6 |
22,143,973 (GRCm39) |
missense |
probably damaging |
1.00 |
R7966:Cped1
|
UTSW |
6 |
22,059,953 (GRCm39) |
critical splice donor site |
probably null |
|
R8113:Cped1
|
UTSW |
6 |
22,233,480 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8186:Cped1
|
UTSW |
6 |
22,123,587 (GRCm39) |
missense |
probably benign |
0.01 |
R8215:Cped1
|
UTSW |
6 |
22,132,277 (GRCm39) |
missense |
probably damaging |
1.00 |
R8265:Cped1
|
UTSW |
6 |
22,222,426 (GRCm39) |
missense |
probably benign |
0.04 |
R8280:Cped1
|
UTSW |
6 |
21,986,820 (GRCm39) |
missense |
unknown |
|
R8286:Cped1
|
UTSW |
6 |
22,254,601 (GRCm39) |
missense |
probably benign |
0.03 |
R8393:Cped1
|
UTSW |
6 |
22,222,465 (GRCm39) |
missense |
possibly damaging |
0.80 |
R8503:Cped1
|
UTSW |
6 |
22,145,564 (GRCm39) |
missense |
probably benign |
0.02 |
R8725:Cped1
|
UTSW |
6 |
22,059,941 (GRCm39) |
missense |
possibly damaging |
0.71 |
R8727:Cped1
|
UTSW |
6 |
22,059,941 (GRCm39) |
missense |
possibly damaging |
0.71 |
R8852:Cped1
|
UTSW |
6 |
22,215,620 (GRCm39) |
missense |
probably damaging |
1.00 |
R8881:Cped1
|
UTSW |
6 |
22,119,578 (GRCm39) |
missense |
possibly damaging |
0.58 |
R8888:Cped1
|
UTSW |
6 |
22,016,962 (GRCm39) |
missense |
possibly damaging |
0.51 |
R8983:Cped1
|
UTSW |
6 |
22,138,686 (GRCm39) |
missense |
probably benign |
0.00 |
R9135:Cped1
|
UTSW |
6 |
21,987,012 (GRCm39) |
missense |
probably damaging |
0.98 |
X0022:Cped1
|
UTSW |
6 |
21,987,045 (GRCm39) |
missense |
probably benign |
0.05 |
|
Posted On |
2014-05-07 |