Incidental Mutation 'R1118:Cped1'
| ID |
97531 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cped1
|
| Ensembl Gene |
ENSMUSG00000062980 |
| Gene Name |
cadherin-like and PC-esterase domain containing 1 |
| Synonyms |
A430107O13Rik |
| MMRRC Submission |
039191-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R1118 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
21985915-22256403 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 22237698 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 938
(H938L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111041
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115383]
|
| AlphaFold |
B2RX70 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115383
AA Change: H938L
PolyPhen 2
Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000111041
Gene: ENSMUSG00000062980
AA Change: H938L
| 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: H800L
|
| SMART Domains |
Protein: ENSMUSP00000119808
Gene: ENSMUSG00000062980
AA Change: H800L
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 94.3%
|
| Validation Efficiency |
98% (60/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apcdd1 |
A |
G |
18: 63,085,095 (GRCm39) |
T431A |
probably benign |
Het |
| Bcan |
T |
A |
3: 87,896,534 (GRCm39) |
I721F |
probably damaging |
Het |
| Card10 |
T |
C |
15: 78,686,643 (GRCm39) |
D58G |
possibly damaging |
Het |
| Cd200r2 |
A |
G |
16: 44,729,969 (GRCm39) |
N171S |
probably damaging |
Het |
| Celsr1 |
T |
C |
15: 85,916,248 (GRCm39) |
D575G |
probably damaging |
Het |
| Ces1f |
A |
G |
8: 93,993,870 (GRCm39) |
|
probably benign |
Het |
| Creld1 |
A |
G |
6: 113,468,656 (GRCm39) |
D259G |
probably benign |
Het |
| Cubn |
T |
C |
2: 13,341,053 (GRCm39) |
I2223V |
possibly damaging |
Het |
| Dop1a |
A |
G |
9: 86,397,459 (GRCm39) |
D921G |
probably damaging |
Het |
| Dusp7 |
T |
C |
9: 106,250,849 (GRCm39) |
S325P |
possibly damaging |
Het |
| Fat4 |
A |
T |
3: 39,037,091 (GRCm39) |
D3581V |
possibly damaging |
Het |
| Fhl3 |
T |
C |
4: 124,599,584 (GRCm39) |
|
probably null |
Het |
| Gap43 |
T |
C |
16: 42,112,167 (GRCm39) |
E198G |
probably benign |
Het |
| Garin4 |
G |
A |
1: 190,896,682 (GRCm39) |
|
probably benign |
Het |
| Grina |
T |
C |
15: 76,132,779 (GRCm39) |
F182S |
probably damaging |
Het |
| Gsk3b |
T |
C |
16: 38,028,346 (GRCm39) |
|
probably benign |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Haus6 |
A |
G |
4: 86,503,563 (GRCm39) |
|
probably null |
Het |
| Hmcn1 |
C |
T |
1: 150,494,679 (GRCm39) |
A4137T |
possibly damaging |
Het |
| Itih4 |
C |
A |
14: 30,618,124 (GRCm39) |
|
probably benign |
Het |
| Itprid1 |
T |
C |
6: 55,866,155 (GRCm39) |
F183L |
probably damaging |
Het |
| Kif22 |
A |
G |
7: 126,631,916 (GRCm39) |
S384P |
probably benign |
Het |
| Lbr |
A |
C |
1: 181,648,233 (GRCm39) |
|
probably benign |
Het |
| Mei1 |
G |
A |
15: 82,000,068 (GRCm39) |
|
probably benign |
Het |
| Misp |
T |
C |
10: 79,662,969 (GRCm39) |
V462A |
probably benign |
Het |
| Mrgpra3 |
A |
C |
7: 47,239,039 (GRCm39) |
L296V |
possibly damaging |
Het |
| Ndufa9 |
A |
T |
6: 126,799,031 (GRCm39) |
L362Q |
probably damaging |
Het |
| Nlrp9c |
A |
T |
7: 26,083,862 (GRCm39) |
D572E |
probably benign |
Het |
| Or4f14 |
T |
A |
2: 111,743,222 (GRCm39) |
T18S |
probably benign |
Het |
| Otud4 |
C |
T |
8: 80,379,980 (GRCm39) |
|
probably benign |
Het |
| P4ha3 |
T |
C |
7: 99,962,535 (GRCm39) |
I431T |
probably damaging |
Het |
| Pcdhb15 |
T |
A |
18: 37,606,815 (GRCm39) |
F16I |
probably benign |
Het |
| Pcnp |
A |
G |
16: 55,844,754 (GRCm39) |
S49P |
probably damaging |
Het |
| Pdxdc1 |
T |
A |
16: 13,697,278 (GRCm39) |
|
probably benign |
Het |
| Pgc |
T |
A |
17: 48,039,828 (GRCm39) |
|
probably null |
Het |
| Phf11a |
T |
C |
14: 59,521,778 (GRCm39) |
D131G |
probably benign |
Het |
| Prdm2 |
G |
A |
4: 142,858,953 (GRCm39) |
H1446Y |
possibly damaging |
Het |
| Rad54b |
T |
C |
4: 11,563,352 (GRCm39) |
S4P |
probably damaging |
Het |
| Slc52a2 |
T |
C |
15: 76,423,808 (GRCm39) |
|
probably benign |
Het |
| Slc9a4 |
G |
A |
1: 40,623,490 (GRCm39) |
|
probably benign |
Het |
| Smad4 |
T |
C |
18: 73,773,333 (GRCm39) |
D551G |
probably benign |
Het |
| Smg7 |
A |
T |
1: 152,742,326 (GRCm39) |
|
probably benign |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Sspo |
A |
G |
6: 48,436,352 (GRCm39) |
Y1234C |
probably damaging |
Het |
| Stab2 |
A |
T |
10: 86,721,582 (GRCm39) |
|
probably null |
Het |
| Stk36 |
A |
G |
1: 74,671,925 (GRCm39) |
E875G |
probably benign |
Het |
| Stmn4 |
T |
G |
14: 66,591,844 (GRCm39) |
|
probably benign |
Het |
| Tagln3 |
C |
A |
16: 45,544,635 (GRCm39) |
R12L |
probably damaging |
Het |
| Tex14 |
A |
T |
11: 87,413,343 (GRCm39) |
R1031S |
probably benign |
Het |
| Tia1 |
G |
A |
6: 86,396,091 (GRCm39) |
V96I |
probably benign |
Het |
| Ticrr |
C |
T |
7: 79,343,701 (GRCm39) |
P1189S |
probably benign |
Het |
| Tnxb |
G |
A |
17: 34,904,017 (GRCm39) |
V1053M |
probably damaging |
Het |
| Tpp2 |
T |
C |
1: 44,031,556 (GRCm39) |
|
probably null |
Het |
| Trpm7 |
A |
G |
2: 126,664,406 (GRCm39) |
M991T |
possibly damaging |
Het |
| Ttc3 |
T |
A |
16: 94,217,127 (GRCm39) |
|
probably benign |
Het |
| Vcan |
G |
A |
13: 89,853,782 (GRCm39) |
P393S |
probably damaging |
Het |
| Vmn2r107 |
G |
A |
17: 20,576,860 (GRCm39) |
R286Q |
probably benign |
Het |
| Wdr87-ps |
G |
A |
7: 29,233,669 (GRCm39) |
|
noncoding transcript |
Het |
| Wrap73 |
A |
T |
4: 154,236,884 (GRCm39) |
|
probably null |
Het |
| Zfp958 |
A |
T |
8: 4,676,169 (GRCm39) |
N46Y |
possibly 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 |
|
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'- AGTCAGGTGCCAGCTACTACTCAAG -3'
(R):5'- CATCCCGAGTCTTTCATGTCTGAGC -3'
Sequencing Primer
(F):5'- ATAAACGAAGGTCTGCCTTGTG -3'
(R):5'- GAGTCTTTCATGTCTGAGCAATGAC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation