Incidental Mutation 'PIT4382001:Cped1'
| ID |
554678 |
| Institutional Source |
Beutler Lab
|
| 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: 0.059)
|
| Stock # |
PIT4382001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
21985915-22256403 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 22222449 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 736
(C736*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111041
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115383]
|
| AlphaFold |
B2RX70 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000115383
AA Change: C736*
|
| SMART Domains |
Protein: ENSMUSP00000111041
Gene: ENSMUSG00000062980
AA Change: C736*
| 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
AA Change: C598*
|
| SMART Domains |
Protein: ENSMUSP00000119808
Gene: ENSMUSG00000062980
AA Change: C598*
| 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 |
|
| Coding Region Coverage |
- 1x: 92.9%
- 3x: 90.5%
- 10x: 84.6%
- 20x: 72.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9430038I01Rik |
G |
T |
7: 136,978,711 (GRCm39) |
H144N |
unknown |
Het |
| Acsm4 |
C |
T |
7: 119,297,798 (GRCm39) |
T145M |
probably damaging |
Het |
| Adam10 |
T |
C |
9: 70,673,363 (GRCm39) |
L498P |
probably damaging |
Het |
| Adgrl2 |
A |
G |
3: 148,522,934 (GRCm39) |
L430P |
|
Het |
| Alk |
T |
C |
17: 72,256,916 (GRCm39) |
M648V |
probably benign |
Het |
| Arhgap35 |
T |
C |
7: 16,297,794 (GRCm39) |
R424G |
possibly damaging |
Het |
| Baiap2l1 |
T |
C |
5: 144,215,480 (GRCm39) |
K342E |
possibly damaging |
Het |
| Ccdc54 |
C |
T |
16: 50,411,219 (GRCm39) |
V16M |
probably damaging |
Het |
| Chil3 |
T |
G |
3: 106,055,975 (GRCm39) |
D366A |
probably damaging |
Het |
| Chuk |
A |
G |
19: 44,087,046 (GRCm39) |
V151A |
probably damaging |
Het |
| Cpd |
T |
G |
11: 76,688,614 (GRCm39) |
H886P |
probably benign |
Het |
| Creb3l3 |
T |
C |
10: 80,920,746 (GRCm39) |
E428G |
probably benign |
Het |
| Csad |
G |
A |
15: 102,097,085 (GRCm39) |
L7F |
probably benign |
Het |
| Dnah1 |
C |
T |
14: 31,006,412 (GRCm39) |
D2255N |
probably damaging |
Het |
| Dnajb12 |
T |
C |
10: 59,728,508 (GRCm39) |
Y159H |
probably damaging |
Het |
| Dpysl4 |
T |
A |
7: 138,669,494 (GRCm39) |
Y57* |
probably null |
Het |
| F2rl1 |
T |
G |
13: 95,650,154 (GRCm39) |
N243H |
probably benign |
Het |
| Fhl4 |
T |
C |
10: 84,934,293 (GRCm39) |
K163E |
possibly damaging |
Het |
| Flot2 |
T |
C |
11: 77,944,193 (GRCm39) |
S46P |
possibly damaging |
Het |
| Fsip2 |
C |
A |
2: 82,821,196 (GRCm39) |
T5643K |
possibly damaging |
Het |
| Golga4 |
T |
A |
9: 118,382,521 (GRCm39) |
Y542N |
possibly damaging |
Het |
| Il17re |
A |
G |
6: 113,446,038 (GRCm39) |
T426A |
probably benign |
Het |
| Kdm2a |
T |
A |
19: 4,393,201 (GRCm39) |
M385L |
probably benign |
Het |
| Kdm3b |
T |
C |
18: 34,942,140 (GRCm39) |
S744P |
probably damaging |
Het |
| Krtap20-1 |
T |
A |
16: 88,881,048 (GRCm39) |
Y26* |
probably null |
Het |
| Lama2 |
T |
C |
10: 27,080,901 (GRCm39) |
D974G |
probably damaging |
Het |
| Ldc1 |
A |
T |
4: 130,112,954 (GRCm39) |
N147K |
possibly damaging |
Het |
| Lipo5 |
A |
T |
19: 33,443,339 (GRCm39) |
L159Q |
probably null |
Het |
| LTO1 |
T |
A |
7: 144,470,181 (GRCm39) |
Y37N |
probably damaging |
Het |
| Mau2 |
C |
T |
8: 70,483,302 (GRCm39) |
E187K |
possibly damaging |
Het |
| Mrpl9 |
T |
C |
3: 94,355,136 (GRCm39) |
L236P |
probably benign |
Het |
| Mta1 |
A |
G |
12: 113,096,870 (GRCm39) |
T564A |
probably benign |
Het |
| Mylk |
C |
T |
16: 34,696,012 (GRCm39) |
S249L |
probably damaging |
Het |
| Ncor1 |
G |
T |
11: 62,235,489 (GRCm39) |
T331K |
probably damaging |
Het |
| Nsun3 |
T |
A |
16: 62,606,228 (GRCm39) |
K15N |
probably damaging |
Het |
| Nsun5 |
A |
G |
5: 135,400,355 (GRCm39) |
Y132C |
probably benign |
Het |
| Obsl1 |
T |
A |
1: 75,464,607 (GRCm39) |
T1605S |
probably benign |
Het |
| Or10a3n |
A |
G |
7: 108,493,309 (GRCm39) |
Y107H |
probably damaging |
Het |
| Or51f1 |
A |
G |
7: 102,505,809 (GRCm39) |
Y227H |
probably damaging |
Het |
| Or51t4 |
A |
T |
7: 102,598,656 (GRCm39) |
Y328F |
probably benign |
Het |
| Or5b109 |
T |
C |
19: 13,212,259 (GRCm39) |
I215T |
probably damaging |
Het |
| P2rx1 |
A |
G |
11: 72,900,026 (GRCm39) |
N148D |
probably benign |
Het |
| Pogz |
T |
A |
3: 94,787,107 (GRCm39) |
S1232T |
probably damaging |
Het |
| Polr3b |
C |
A |
10: 84,520,049 (GRCm39) |
T655N |
probably damaging |
Het |
| Prss34 |
T |
C |
17: 25,517,882 (GRCm39) |
|
probably null |
Het |
| Rhpn2 |
A |
G |
7: 35,090,178 (GRCm39) |
|
probably null |
Het |
| Runx1 |
T |
A |
16: 92,410,648 (GRCm39) |
D256V |
probably damaging |
Het |
| Shc1 |
C |
A |
3: 89,334,715 (GRCm39) |
Q525K |
probably benign |
Het |
| Slc10a5 |
T |
C |
3: 10,400,507 (GRCm39) |
D51G |
probably benign |
Het |
| Slc6a3 |
A |
T |
13: 73,719,642 (GRCm39) |
N557I |
probably benign |
Het |
| Slmap |
C |
T |
14: 26,254,586 (GRCm39) |
R32H |
probably damaging |
Het |
| Spata31d1c |
T |
C |
13: 65,183,985 (GRCm39) |
I509T |
probably benign |
Het |
| Spata31e4 |
A |
T |
13: 50,855,007 (GRCm39) |
E215V |
probably damaging |
Het |
| Srr |
C |
A |
11: 74,801,134 (GRCm39) |
V138F |
probably benign |
Het |
| Tas2r118 |
G |
A |
6: 23,969,785 (GRCm39) |
T92I |
possibly damaging |
Het |
| Tcaf2 |
A |
T |
6: 42,601,300 (GRCm39) |
*920K |
probably null |
Het |
| Tenm2 |
T |
A |
11: 35,954,729 (GRCm39) |
Y1141F |
probably damaging |
Het |
| Thoc6 |
T |
C |
17: 23,887,841 (GRCm39) |
N322S |
probably benign |
Het |
| Tlcd2 |
A |
G |
11: 75,359,417 (GRCm39) |
I70V |
probably benign |
Het |
| Tmem214 |
A |
G |
5: 31,028,795 (GRCm39) |
D128G |
possibly damaging |
Het |
| Trav13d-4 |
T |
C |
14: 53,995,238 (GRCm39) |
V64A |
probably benign |
Het |
| Tyro3 |
T |
C |
2: 119,632,845 (GRCm39) |
W122R |
probably damaging |
Het |
| Ugcg |
A |
G |
4: 59,213,246 (GRCm39) |
D144G |
possibly damaging |
Het |
| Uimc1 |
T |
C |
13: 55,178,828 (GRCm39) |
D627G |
probably benign |
Het |
| Utp6 |
T |
C |
11: 79,853,099 (GRCm39) |
I13V |
probably benign |
Het |
| Vmn2r99 |
A |
G |
17: 19,614,605 (GRCm39) |
K775R |
probably damaging |
Het |
| Wdfy3 |
CG |
C |
5: 102,030,827 (GRCm39) |
|
probably null |
Het |
| Zw10 |
C |
T |
9: 48,982,944 (GRCm39) |
T525I |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGTGTTATTTCACAACAGGACATC -3'
(R):5'- AGCACATGCAATGGTCTGGC -3'
Sequencing Primer
(F):5'- TCTCTGCTTGACTCACAGGAGG -3'
(R):5'- ATGCAATGGTCTGGCCTCAG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation