Incidental Mutation 'IGL02541:Cped1'
| ID |
298220 |
| 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 # |
IGL02541
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
21985915-22256403 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 22120988 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 356
(I356T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111040
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115382]
[ENSMUST00000115383]
[ENSMUST00000153922]
|
| AlphaFold |
B2RX70 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115382
AA Change: I356T
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000111040
Gene: ENSMUSG00000062980
AA Change: I356T
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115383
AA Change: I356T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000111041
Gene: ENSMUSG00000062980
AA Change: I356T
| 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: I218T
|
| SMART Domains |
Protein: ENSMUSP00000119808
Gene: ENSMUSG00000062980
AA Change: I218T
| 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 |
probably benign
Transcript: ENSMUST00000153922
|
| SMART Domains |
Protein: ENSMUSP00000138562
Gene: ENSMUSG00000062980
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
110 |
122 |
N/A |
INTRINSIC |
|
low complexity region
|
130 |
142 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
A |
T |
7: 120,113,881 (GRCm39) |
L917F |
possibly damaging |
Het |
| Abca6 |
A |
T |
11: 110,103,093 (GRCm39) |
W833R |
probably damaging |
Het |
| Asb15 |
T |
A |
6: 24,566,265 (GRCm39) |
V406D |
probably damaging |
Het |
| Bcl9l |
T |
C |
9: 44,419,066 (GRCm39) |
V968A |
probably benign |
Het |
| Bend7 |
T |
C |
2: 4,768,116 (GRCm39) |
|
probably null |
Het |
| Cadm2 |
C |
A |
16: 66,679,770 (GRCm39) |
G21V |
possibly damaging |
Het |
| Cadm2 |
C |
A |
16: 66,679,771 (GRCm39) |
|
probably null |
Het |
| Camta1 |
G |
A |
4: 151,169,112 (GRCm39) |
T1191I |
probably benign |
Het |
| Cep152 |
C |
T |
2: 125,447,274 (GRCm39) |
A425T |
probably damaging |
Het |
| Cep95 |
C |
A |
11: 106,706,407 (GRCm39) |
Q554K |
probably damaging |
Het |
| Cgref1 |
A |
G |
5: 31,091,502 (GRCm39) |
|
probably null |
Het |
| Clock |
T |
A |
5: 76,410,519 (GRCm39) |
|
probably null |
Het |
| Cmc2 |
A |
G |
8: 117,620,883 (GRCm39) |
F33L |
probably benign |
Het |
| Cnksr3 |
A |
G |
10: 7,085,073 (GRCm39) |
V258A |
probably damaging |
Het |
| Col6a6 |
G |
T |
9: 105,609,415 (GRCm39) |
N1624K |
probably benign |
Het |
| Dpy19l2 |
C |
T |
9: 24,569,943 (GRCm39) |
V337I |
probably benign |
Het |
| E2f3 |
A |
T |
13: 30,100,827 (GRCm39) |
|
probably null |
Het |
| Eif1ad |
A |
G |
19: 5,418,445 (GRCm39) |
|
probably benign |
Het |
| Fam114a2 |
A |
T |
11: 57,390,627 (GRCm39) |
D302E |
probably benign |
Het |
| Fign |
T |
C |
2: 63,809,881 (GRCm39) |
N463S |
probably benign |
Het |
| Fzr1 |
T |
C |
10: 81,205,867 (GRCm39) |
T220A |
probably damaging |
Het |
| Gm14496 |
G |
A |
2: 181,642,186 (GRCm39) |
R619Q |
probably benign |
Het |
| Gm9966 |
T |
C |
7: 95,607,991 (GRCm39) |
I104T |
unknown |
Het |
| Itgb7 |
G |
T |
15: 102,131,892 (GRCm39) |
H230Q |
probably benign |
Het |
| Kif7 |
T |
C |
7: 79,360,628 (GRCm39) |
H249R |
possibly damaging |
Het |
| Krtap4-2 |
T |
G |
11: 99,525,792 (GRCm39) |
Q20P |
unknown |
Het |
| Mis18bp1 |
T |
C |
12: 65,208,234 (GRCm39) |
T160A |
probably damaging |
Het |
| Mrps9 |
T |
C |
1: 42,901,814 (GRCm39) |
|
probably null |
Het |
| Mynn |
T |
A |
3: 30,665,752 (GRCm39) |
H461Q |
probably damaging |
Het |
| Naa25 |
A |
G |
5: 121,562,594 (GRCm39) |
T459A |
possibly damaging |
Het |
| Niban3 |
A |
T |
8: 72,055,426 (GRCm39) |
T279S |
probably benign |
Het |
| Notch1 |
C |
T |
2: 26,358,515 (GRCm39) |
D1439N |
probably benign |
Het |
| Or2ag2b |
A |
G |
7: 106,417,809 (GRCm39) |
E173G |
probably benign |
Het |
| Pals2 |
A |
G |
6: 50,160,707 (GRCm39) |
I323V |
probably benign |
Het |
| Pcdhb3 |
A |
T |
18: 37,435,198 (GRCm39) |
D388V |
probably damaging |
Het |
| Pold3 |
C |
T |
7: 99,732,879 (GRCm39) |
G417S |
probably damaging |
Het |
| Pwwp3a |
G |
A |
10: 80,064,273 (GRCm39) |
|
probably null |
Het |
| Rad17 |
A |
G |
13: 100,769,951 (GRCm39) |
|
probably benign |
Het |
| Sh3glb1 |
T |
C |
3: 144,425,801 (GRCm39) |
D5G |
probably damaging |
Het |
| Shank3 |
T |
A |
15: 89,385,613 (GRCm39) |
Y167N |
probably damaging |
Het |
| Slc3a2 |
A |
T |
19: 8,685,123 (GRCm39) |
Y292* |
probably null |
Het |
| Slc7a13 |
T |
A |
4: 19,839,212 (GRCm39) |
|
probably benign |
Het |
| Snx18 |
A |
T |
13: 113,731,302 (GRCm39) |
I564N |
probably damaging |
Het |
| Supt6 |
G |
A |
11: 78,117,744 (GRCm39) |
R491C |
probably damaging |
Het |
| Tanc1 |
G |
T |
2: 59,663,602 (GRCm39) |
G1120C |
probably damaging |
Het |
| Tnrc6b |
C |
A |
15: 80,764,032 (GRCm39) |
D511E |
probably benign |
Het |
| Trio |
A |
G |
15: 27,845,016 (GRCm39) |
|
probably benign |
Het |
| Trmt12 |
T |
A |
15: 58,745,651 (GRCm39) |
W350R |
probably benign |
Het |
| Ttc1 |
T |
C |
11: 43,629,648 (GRCm39) |
T173A |
probably benign |
Het |
| Ttc39d |
C |
A |
17: 80,523,875 (GRCm39) |
T178K |
probably damaging |
Het |
| Ufl1 |
T |
A |
4: 25,250,534 (GRCm39) |
E693V |
possibly damaging |
Het |
| Vamp2 |
G |
T |
11: 68,979,977 (GRCm39) |
E16D |
unknown |
Het |
| Vmn2r-ps158 |
T |
A |
7: 42,673,092 (GRCm39) |
|
probably benign |
Het |
| Wdr70 |
C |
T |
15: 7,913,783 (GRCm39) |
W622* |
probably null |
Het |
| Zfp28 |
C |
T |
7: 6,396,479 (GRCm39) |
Q305* |
probably null |
Het |
| Zfp653 |
C |
A |
9: 21,967,079 (GRCm39) |
R602L |
probably damaging |
Het |
| Zzef1 |
T |
A |
11: 72,763,475 (GRCm39) |
V1374E |
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 |
|
IGL02063:Cped1
|
APN |
6 |
22,138,701 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation