Incidental Mutation 'R1879:Cped1'
| ID |
211380 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cped1
|
| Ensembl Gene |
ENSMUSG00000062980 |
| Gene Name |
cadherin-like and PC-esterase domain containing 1 |
| Synonyms |
A430107O13Rik |
| MMRRC Submission |
039900-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R1879 (G1)
|
| Quality Score |
200 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
21985915-22256403 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 22085014 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115382]
[ENSMUST00000115382]
[ENSMUST00000115383]
[ENSMUST00000153922]
|
| AlphaFold |
B2RX70 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000115382
|
| SMART Domains |
Protein: ENSMUSP00000111040
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
|
133 |
147 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000115382
|
| SMART Domains |
Protein: ENSMUSP00000111040
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
|
133 |
147 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000115383
|
| SMART Domains |
Protein: ENSMUSP00000111041
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
|
133 |
147 |
N/A |
INTRINSIC |
|
Pfam:Cadherin-like
|
574 |
663 |
1e-9 |
PFAM |
|
Pfam:PC-Esterase
|
753 |
1018 |
2e-26 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000137437
|
| SMART Domains |
Protein: ENSMUSP00000119808
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
|
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 null
Transcript: ENSMUST00000137437
|
| SMART Domains |
Protein: ENSMUSP00000119808
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
|
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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156621
|
| Coding Region Coverage |
- 1x: 97.3%
- 3x: 96.6%
- 10x: 94.9%
- 20x: 91.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001O22Rik |
T |
C |
2: 30,686,488 (GRCm39) |
D268G |
possibly damaging |
Het |
| Abce1 |
T |
C |
8: 80,414,085 (GRCm39) |
N542S |
probably benign |
Het |
| Abcf1 |
T |
A |
17: 36,272,704 (GRCm39) |
E260D |
probably benign |
Het |
| Ahcy |
A |
G |
2: 154,906,072 (GRCm39) |
|
probably null |
Het |
| Akap13 |
C |
T |
7: 75,260,475 (GRCm39) |
A1033V |
probably benign |
Het |
| Alkbh6 |
A |
G |
7: 30,011,320 (GRCm39) |
N46S |
probably damaging |
Het |
| Ankrd34c |
A |
C |
9: 89,612,126 (GRCm39) |
L72V |
probably damaging |
Het |
| Arf4 |
T |
A |
14: 26,368,076 (GRCm39) |
N25K |
probably damaging |
Het |
| Arhgef4 |
A |
G |
1: 34,761,521 (GRCm39) |
D259G |
unknown |
Het |
| Cavin1 |
C |
A |
11: 100,861,036 (GRCm39) |
G86V |
probably damaging |
Het |
| Ces1d |
G |
A |
8: 93,916,126 (GRCm39) |
T167I |
probably benign |
Het |
| Cfb |
T |
C |
17: 35,079,536 (GRCm39) |
I754V |
probably benign |
Het |
| Clcnkb |
C |
T |
4: 141,135,130 (GRCm39) |
R536H |
possibly damaging |
Het |
| Clpb |
T |
G |
7: 101,355,690 (GRCm39) |
S181R |
probably benign |
Het |
| Col1a1 |
T |
C |
11: 94,842,051 (GRCm39) |
M1366T |
unknown |
Het |
| Crip1 |
G |
A |
12: 113,116,952 (GRCm39) |
C82Y |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 47,520,915 (GRCm39) |
T2810A |
possibly damaging |
Het |
| Cyp2b9 |
A |
T |
7: 25,897,994 (GRCm39) |
D266V |
probably damaging |
Het |
| Cyp46a1 |
A |
G |
12: 108,319,385 (GRCm39) |
D294G |
probably damaging |
Het |
| Depp1 |
G |
A |
6: 116,628,683 (GRCm39) |
V9M |
possibly damaging |
Het |
| Dst |
A |
G |
1: 34,227,924 (GRCm39) |
E1514G |
probably benign |
Het |
| Dync1h1 |
A |
G |
12: 110,591,070 (GRCm39) |
E1046G |
probably benign |
Het |
| Eya2 |
T |
C |
2: 165,506,726 (GRCm39) |
V4A |
probably benign |
Het |
| Frem3 |
A |
T |
8: 81,338,567 (GRCm39) |
R287* |
probably null |
Het |
| Fuca2 |
T |
A |
10: 13,383,000 (GRCm39) |
C323S |
possibly damaging |
Het |
| Ggt7 |
T |
C |
2: 155,356,707 (GRCm39) |
E4G |
possibly damaging |
Het |
| Gli1 |
C |
T |
10: 127,169,606 (GRCm39) |
R383H |
probably damaging |
Het |
| Gm4559 |
C |
A |
7: 141,827,998 (GRCm39) |
V35F |
unknown |
Het |
| Gpm6a |
T |
A |
8: 55,490,365 (GRCm39) |
C14S |
probably damaging |
Het |
| Hcn2 |
A |
T |
10: 79,562,023 (GRCm39) |
I340F |
probably benign |
Het |
| Hdac9 |
T |
A |
12: 34,440,332 (GRCm39) |
D349V |
probably damaging |
Het |
| Krt34 |
T |
C |
11: 99,929,118 (GRCm39) |
D364G |
possibly damaging |
Het |
| Mon2 |
C |
T |
10: 122,838,790 (GRCm39) |
R1565H |
probably damaging |
Het |
| Myb |
T |
A |
10: 21,017,876 (GRCm39) |
M482L |
probably benign |
Het |
| Nckap1l |
A |
T |
15: 103,373,028 (GRCm39) |
I294F |
probably benign |
Het |
| Nr2e1 |
A |
G |
10: 42,444,367 (GRCm39) |
|
probably null |
Het |
| Ntn4 |
C |
T |
10: 93,543,215 (GRCm39) |
R314W |
probably damaging |
Het |
| Or1j16 |
G |
T |
2: 36,530,201 (GRCm39) |
R50M |
possibly damaging |
Het |
| Or1r1 |
T |
A |
11: 73,875,368 (GRCm39) |
D22V |
probably benign |
Het |
| Or4k38 |
A |
T |
2: 111,165,808 (GRCm39) |
I205N |
possibly damaging |
Het |
| Or52h7 |
T |
C |
7: 104,214,118 (GRCm39) |
V230A |
possibly damaging |
Het |
| Pde8b |
A |
T |
13: 95,221,723 (GRCm39) |
I308N |
possibly damaging |
Het |
| Pdzd2 |
T |
C |
15: 12,373,986 (GRCm39) |
R2050G |
possibly damaging |
Het |
| Phc3 |
C |
A |
3: 30,968,607 (GRCm39) |
S840I |
probably damaging |
Het |
| Piezo2 |
T |
A |
18: 63,247,031 (GRCm39) |
Y327F |
probably damaging |
Het |
| Pnliprp1 |
A |
T |
19: 58,732,516 (GRCm39) |
I460F |
probably benign |
Het |
| Pphln1 |
T |
G |
15: 93,321,927 (GRCm39) |
D35E |
probably damaging |
Het |
| Prdm6 |
G |
A |
18: 53,701,289 (GRCm39) |
V360I |
probably damaging |
Het |
| Rab35 |
T |
A |
5: 115,778,219 (GRCm39) |
W62R |
probably damaging |
Het |
| Sct |
G |
T |
7: 140,858,612 (GRCm39) |
P70Q |
probably damaging |
Het |
| Sdf4 |
A |
G |
4: 156,094,304 (GRCm39) |
N328S |
probably damaging |
Het |
| Senp5 |
A |
T |
16: 31,802,642 (GRCm39) |
S488R |
probably damaging |
Het |
| Serpina3n |
A |
G |
12: 104,375,213 (GRCm39) |
E95G |
probably benign |
Het |
| Sfswap |
C |
T |
5: 129,618,392 (GRCm39) |
A442V |
probably benign |
Het |
| Sgcd |
T |
C |
11: 47,246,068 (GRCm39) |
I45V |
probably benign |
Het |
| Sgcg |
T |
C |
14: 61,474,346 (GRCm39) |
|
probably null |
Het |
| Slc39a12 |
G |
T |
2: 14,448,868 (GRCm39) |
V489L |
probably benign |
Het |
| Slc5a11 |
T |
A |
7: 122,838,671 (GRCm39) |
I96N |
possibly damaging |
Het |
| Slc6a12 |
A |
G |
6: 121,324,382 (GRCm39) |
D2G |
probably damaging |
Het |
| Slc8a1 |
T |
C |
17: 81,955,442 (GRCm39) |
D532G |
probably damaging |
Het |
| Smarcd3 |
C |
A |
5: 24,798,019 (GRCm39) |
C465F |
probably damaging |
Het |
| Smc1b |
T |
A |
15: 84,976,268 (GRCm39) |
Q813L |
probably benign |
Het |
| Spag1 |
G |
A |
15: 36,181,916 (GRCm39) |
E25K |
probably damaging |
Het |
| Sptan1 |
A |
T |
2: 29,885,540 (GRCm39) |
N715I |
probably damaging |
Het |
| Tas1r2 |
T |
A |
4: 139,397,006 (GRCm39) |
Y782N |
probably damaging |
Het |
| Thap3 |
A |
T |
4: 152,067,593 (GRCm39) |
C162S |
probably benign |
Het |
| Topaz1 |
T |
A |
9: 122,578,684 (GRCm39) |
D531E |
possibly damaging |
Het |
| Vmn1r25 |
C |
T |
6: 57,955,912 (GRCm39) |
A126T |
possibly damaging |
Het |
| Zfhx2 |
A |
G |
14: 55,303,074 (GRCm39) |
F1637L |
probably benign |
Het |
| Zfhx2 |
T |
C |
14: 55,310,206 (GRCm39) |
Y780C |
possibly damaging |
Het |
| Zfp513 |
T |
G |
5: 31,357,767 (GRCm39) |
K202T |
probably damaging |
Het |
| Zfp956 |
A |
T |
6: 47,940,678 (GRCm39) |
T346S |
probably benign |
Het |
| Zkscan1 |
C |
T |
5: 138,095,410 (GRCm39) |
A219V |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
|
| Posted On |
2014-06-30 |
Incidental Mutation