Incidental Mutation 'R2056:Ccdc180'
| ID |
228174 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc180
|
| Ensembl Gene |
ENSMUSG00000035539 |
| Gene Name |
coiled-coil domain containing 180 |
| Synonyms |
LOC381522, E230008N13Rik |
| MMRRC Submission |
040061-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2056 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
45890303-45950774 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 45932477 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 1308
(I1308V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136714
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000178561]
|
| AlphaFold |
J3QNE4 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000149903
AA Change: I1132V
|
| SMART Domains |
Protein: ENSMUSP00000119784
Gene: ENSMUSG00000035539
AA Change: I1132V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
42 |
N/A |
INTRINSIC |
|
coiled coil region
|
90 |
117 |
N/A |
INTRINSIC |
|
Pfam:DUF4455
|
141 |
609 |
2e-189 |
PFAM |
|
low complexity region
|
628 |
642 |
N/A |
INTRINSIC |
|
low complexity region
|
658 |
675 |
N/A |
INTRINSIC |
|
coiled coil region
|
710 |
780 |
N/A |
INTRINSIC |
|
coiled coil region
|
945 |
979 |
N/A |
INTRINSIC |
|
low complexity region
|
1100 |
1123 |
N/A |
INTRINSIC |
|
Pfam:DUF4456
|
1169 |
1372 |
9.5e-77 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178561
AA Change: I1308V
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000136714
Gene: ENSMUSG00000035539
AA Change: I1308V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
49 |
N/A |
INTRINSIC |
|
coiled coil region
|
98 |
125 |
N/A |
INTRINSIC |
|
Pfam:DUF4455
|
148 |
616 |
7.3e-189 |
PFAM |
|
low complexity region
|
635 |
649 |
N/A |
INTRINSIC |
|
low complexity region
|
665 |
682 |
N/A |
INTRINSIC |
|
coiled coil region
|
718 |
788 |
N/A |
INTRINSIC |
|
coiled coil region
|
1121 |
1155 |
N/A |
INTRINSIC |
|
low complexity region
|
1275 |
1298 |
N/A |
INTRINSIC |
|
Pfam:DUF4456
|
1344 |
1547 |
2.2e-76 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a coiled-coil domain. Alternative splicing results in multiple transcript variants encoding different isoforms. A single nucleotide polymorphism (SNP) in this gene has been associated with increased susceptibility to Behcet's Disease (PMID: 19442274). [provided by RefSeq, Dec 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg2 |
T |
C |
6: 58,667,525 (GRCm39) |
V129A |
probably benign |
Het |
| Adh1 |
A |
G |
3: 137,992,676 (GRCm39) |
D264G |
probably damaging |
Het |
| Ahnak2 |
T |
A |
12: 112,748,626 (GRCm39) |
D407V |
probably benign |
Het |
| Alas1 |
T |
C |
9: 106,118,489 (GRCm39) |
E211G |
probably damaging |
Het |
| Alkbh1 |
C |
T |
12: 87,490,520 (GRCm39) |
|
probably benign |
Het |
| Ankmy1 |
T |
C |
1: 92,809,553 (GRCm39) |
I662V |
possibly damaging |
Het |
| Ano1 |
A |
G |
7: 144,201,789 (GRCm39) |
V334A |
probably damaging |
Het |
| Apc |
A |
G |
18: 34,449,481 (GRCm39) |
R2092G |
probably damaging |
Het |
| Arhgap18 |
C |
T |
10: 26,730,904 (GRCm39) |
T122I |
probably benign |
Het |
| Atp2b4 |
G |
T |
1: 133,654,275 (GRCm39) |
Q777K |
probably benign |
Het |
| Brap |
G |
A |
5: 121,801,529 (GRCm39) |
G95S |
probably damaging |
Het |
| Cbfa2t2 |
G |
A |
2: 154,377,077 (GRCm39) |
A587T |
probably damaging |
Het |
| Ccser1 |
T |
A |
6: 61,399,936 (GRCm39) |
|
probably null |
Het |
| Cd84 |
A |
G |
1: 171,700,317 (GRCm39) |
T145A |
possibly damaging |
Het |
| Cmtm4 |
A |
C |
8: 105,081,920 (GRCm39) |
F156V |
probably damaging |
Het |
| Cntln |
G |
A |
4: 84,967,911 (GRCm39) |
R710K |
probably benign |
Het |
| Csn1s1 |
A |
T |
5: 87,819,387 (GRCm39) |
T15S |
possibly damaging |
Het |
| Cul9 |
T |
C |
17: 46,854,298 (GRCm39) |
T135A |
probably benign |
Het |
| Cyp2d10 |
T |
A |
15: 82,288,015 (GRCm39) |
I363F |
probably damaging |
Het |
| Dhx38 |
G |
T |
8: 110,289,352 (GRCm39) |
|
probably benign |
Het |
| Dis3 |
A |
T |
14: 99,336,251 (GRCm39) |
I85N |
possibly damaging |
Het |
| Dmbt1 |
G |
A |
7: 130,707,900 (GRCm39) |
A1381T |
possibly damaging |
Het |
| Dscaml1 |
A |
G |
9: 45,661,430 (GRCm39) |
D1776G |
probably damaging |
Het |
| Erbin |
A |
G |
13: 103,966,824 (GRCm39) |
S1209P |
probably benign |
Het |
| Fat4 |
T |
A |
3: 38,945,319 (GRCm39) |
M1404K |
possibly damaging |
Het |
| Fbxo45 |
G |
T |
16: 32,057,346 (GRCm39) |
Q183K |
possibly damaging |
Het |
| Frmd4b |
C |
T |
6: 97,389,448 (GRCm39) |
|
probably null |
Het |
| Fzd7 |
A |
G |
1: 59,523,361 (GRCm39) |
S415G |
probably benign |
Het |
| Gpd2 |
T |
A |
2: 57,229,025 (GRCm39) |
|
probably null |
Het |
| Gsk3b |
T |
A |
16: 38,008,271 (GRCm39) |
D192E |
probably benign |
Het |
| Gstcd |
T |
C |
3: 132,787,814 (GRCm39) |
I295V |
probably benign |
Het |
| Gucy1a1 |
A |
G |
3: 82,016,592 (GRCm39) |
L132P |
possibly damaging |
Het |
| Il12b |
A |
C |
11: 44,298,727 (GRCm39) |
T61P |
probably damaging |
Het |
| Il7 |
A |
T |
3: 7,638,975 (GRCm39) |
N130K |
probably damaging |
Het |
| Itih3 |
A |
C |
14: 30,631,481 (GRCm39) |
|
probably null |
Het |
| Kdm5b |
T |
A |
1: 134,540,952 (GRCm39) |
D681E |
probably benign |
Het |
| Kif11 |
A |
G |
19: 37,390,660 (GRCm39) |
N408D |
probably benign |
Het |
| Kng2 |
TATGACCATGACCATGACCATGACCATGACCATGACCAT |
TATGACCATGACCATGACCATGACCATGACCAT |
16: 22,806,703 (GRCm39) |
|
probably benign |
Het |
| Kremen2 |
T |
C |
17: 23,961,691 (GRCm39) |
E272G |
possibly damaging |
Het |
| Krt9 |
G |
T |
11: 100,082,321 (GRCm39) |
N201K |
probably damaging |
Het |
| Lmbr1 |
G |
A |
5: 29,438,092 (GRCm39) |
P304L |
probably benign |
Het |
| Lrrfip1 |
A |
G |
1: 91,043,539 (GRCm39) |
N648S |
probably benign |
Het |
| Mab21l3 |
C |
A |
3: 101,722,469 (GRCm39) |
V386L |
possibly damaging |
Het |
| Mamdc4 |
T |
C |
2: 25,454,180 (GRCm39) |
Q1149R |
probably benign |
Het |
| Mast1 |
A |
G |
8: 85,646,995 (GRCm39) |
F677L |
possibly damaging |
Het |
| Mcoln3 |
A |
G |
3: 145,833,979 (GRCm39) |
D173G |
probably benign |
Het |
| Mmrn1 |
C |
T |
6: 60,921,789 (GRCm39) |
T82I |
probably benign |
Het |
| Mtcl2 |
C |
T |
2: 156,864,747 (GRCm39) |
G1154S |
probably benign |
Het |
| Muc5ac |
A |
G |
7: 141,345,772 (GRCm39) |
T203A |
probably benign |
Het |
| Myo9b |
T |
C |
8: 71,812,334 (GRCm39) |
I2035T |
possibly damaging |
Het |
| Ndst3 |
T |
C |
3: 123,465,534 (GRCm39) |
N146S |
probably damaging |
Het |
| Neu4 |
A |
G |
1: 93,950,172 (GRCm39) |
T21A |
possibly damaging |
Het |
| Nos1ap |
G |
A |
1: 170,155,215 (GRCm39) |
L267F |
probably damaging |
Het |
| Or14c40 |
A |
T |
7: 86,313,591 (GRCm39) |
K240N |
probably damaging |
Het |
| Or3a4 |
A |
T |
11: 73,944,819 (GRCm39) |
Y255* |
probably null |
Het |
| Or4p8 |
A |
G |
2: 88,727,105 (GRCm39) |
F279L |
probably damaging |
Het |
| Phc1 |
T |
C |
6: 122,310,299 (GRCm39) |
N136S |
probably damaging |
Het |
| Prkdc |
A |
G |
16: 15,545,469 (GRCm39) |
T1862A |
probably benign |
Het |
| Psd2 |
A |
G |
18: 36,139,744 (GRCm39) |
D596G |
possibly damaging |
Het |
| Psmc3 |
T |
C |
2: 90,888,433 (GRCm39) |
F315L |
probably benign |
Het |
| Rerg |
G |
A |
6: 137,034,878 (GRCm39) |
T42I |
probably benign |
Het |
| Rif1 |
T |
A |
2: 51,983,588 (GRCm39) |
M577K |
probably damaging |
Het |
| Sap30 |
T |
C |
8: 57,940,282 (GRCm39) |
|
probably null |
Het |
| Scn2b |
T |
C |
9: 45,036,815 (GRCm39) |
Y108H |
probably damaging |
Het |
| Senp2 |
C |
T |
16: 21,832,949 (GRCm39) |
T79I |
probably damaging |
Het |
| Serpinb2 |
T |
C |
1: 107,451,543 (GRCm39) |
V232A |
probably damaging |
Het |
| Sgpp2 |
T |
A |
1: 78,393,588 (GRCm39) |
L197Q |
probably damaging |
Het |
| Slc27a4 |
T |
C |
2: 29,700,953 (GRCm39) |
W320R |
probably damaging |
Het |
| Spmip4 |
T |
C |
6: 50,550,725 (GRCm39) |
R575G |
possibly damaging |
Het |
| Tgm4 |
T |
C |
9: 122,890,835 (GRCm39) |
I54T |
probably damaging |
Het |
| Thbs4 |
T |
A |
13: 92,927,387 (GRCm39) |
D34V |
probably benign |
Het |
| Tlcd4 |
T |
G |
3: 121,001,070 (GRCm39) |
I188L |
probably benign |
Het |
| Tmem176b |
G |
A |
6: 48,813,267 (GRCm39) |
T64I |
probably damaging |
Het |
| Tmod2 |
T |
C |
9: 75,484,524 (GRCm39) |
E248G |
probably benign |
Het |
| Ttc6 |
T |
A |
12: 57,784,479 (GRCm39) |
D1849E |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,615,882 (GRCm39) |
D8360G |
possibly damaging |
Het |
| Unc80 |
A |
G |
1: 66,679,711 (GRCm39) |
E2094G |
possibly damaging |
Het |
| Vmn2r18 |
A |
T |
5: 151,508,160 (GRCm39) |
D321E |
probably damaging |
Het |
|
| Other mutations in Ccdc180 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01369:Ccdc180
|
APN |
4 |
45,900,256 (GRCm39) |
missense |
probably benign |
|
|
IGL01713:Ccdc180
|
APN |
4 |
45,921,025 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01915:Ccdc180
|
APN |
4 |
45,904,544 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01935:Ccdc180
|
APN |
4 |
45,906,889 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL02539:Ccdc180
|
APN |
4 |
45,921,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02982:Ccdc180
|
APN |
4 |
45,903,840 (GRCm39) |
splice site |
probably benign |
|
|
IGL03071:Ccdc180
|
APN |
4 |
45,903,840 (GRCm39) |
splice site |
probably benign |
|
|
IGL03146:Ccdc180
|
APN |
4 |
45,903,840 (GRCm39) |
splice site |
probably benign |
|
|
PIT4687001:Ccdc180
|
UTSW |
4 |
45,949,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0049:Ccdc180
|
UTSW |
4 |
45,930,119 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0049:Ccdc180
|
UTSW |
4 |
45,930,119 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0054:Ccdc180
|
UTSW |
4 |
45,890,900 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0054:Ccdc180
|
UTSW |
4 |
45,890,900 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0080:Ccdc180
|
UTSW |
4 |
45,896,205 (GRCm39) |
missense |
probably null |
0.00 |
|
R0082:Ccdc180
|
UTSW |
4 |
45,896,205 (GRCm39) |
missense |
probably null |
0.00 |
|
R0126:Ccdc180
|
UTSW |
4 |
45,912,866 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0193:Ccdc180
|
UTSW |
4 |
45,914,803 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0276:Ccdc180
|
UTSW |
4 |
45,923,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0362:Ccdc180
|
UTSW |
4 |
45,923,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0380:Ccdc180
|
UTSW |
4 |
45,930,197 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0468:Ccdc180
|
UTSW |
4 |
45,923,271 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0539:Ccdc180
|
UTSW |
4 |
45,922,010 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0543:Ccdc180
|
UTSW |
4 |
45,900,041 (GRCm39) |
nonsense |
probably null |
|
|
R0546:Ccdc180
|
UTSW |
4 |
45,904,597 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0612:Ccdc180
|
UTSW |
4 |
45,927,969 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0792:Ccdc180
|
UTSW |
4 |
45,927,975 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1056:Ccdc180
|
UTSW |
4 |
45,916,375 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1099:Ccdc180
|
UTSW |
4 |
45,914,225 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1136:Ccdc180
|
UTSW |
4 |
45,914,589 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1263:Ccdc180
|
UTSW |
4 |
45,903,887 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1331:Ccdc180
|
UTSW |
4 |
45,909,359 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R1522:Ccdc180
|
UTSW |
4 |
45,927,975 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1819:Ccdc180
|
UTSW |
4 |
45,926,195 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R2022:Ccdc180
|
UTSW |
4 |
45,944,418 (GRCm39) |
missense |
probably benign |
0.18 |
|
R2219:Ccdc180
|
UTSW |
4 |
45,944,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2228:Ccdc180
|
UTSW |
4 |
45,948,856 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2229:Ccdc180
|
UTSW |
4 |
45,948,856 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2255:Ccdc180
|
UTSW |
4 |
45,921,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2427:Ccdc180
|
UTSW |
4 |
45,929,545 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3001:Ccdc180
|
UTSW |
4 |
45,899,988 (GRCm39) |
missense |
probably benign |
|
|
R3002:Ccdc180
|
UTSW |
4 |
45,899,988 (GRCm39) |
missense |
probably benign |
|
|
R3003:Ccdc180
|
UTSW |
4 |
45,899,988 (GRCm39) |
missense |
probably benign |
|
|
R3110:Ccdc180
|
UTSW |
4 |
45,900,470 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R3111:Ccdc180
|
UTSW |
4 |
45,900,470 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R3112:Ccdc180
|
UTSW |
4 |
45,900,470 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R3898:Ccdc180
|
UTSW |
4 |
45,912,799 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4022:Ccdc180
|
UTSW |
4 |
45,904,560 (GRCm39) |
nonsense |
probably null |
|
|
R4084:Ccdc180
|
UTSW |
4 |
45,950,632 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4377:Ccdc180
|
UTSW |
4 |
45,941,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4595:Ccdc180
|
UTSW |
4 |
45,945,023 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4637:Ccdc180
|
UTSW |
4 |
45,914,443 (GRCm39) |
missense |
probably benign |
|
|
R4811:Ccdc180
|
UTSW |
4 |
45,928,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4825:Ccdc180
|
UTSW |
4 |
45,912,794 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4858:Ccdc180
|
UTSW |
4 |
45,923,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4888:Ccdc180
|
UTSW |
4 |
45,909,308 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4940:Ccdc180
|
UTSW |
4 |
45,917,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4940:Ccdc180
|
UTSW |
4 |
45,917,453 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5042:Ccdc180
|
UTSW |
4 |
45,916,255 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5119:Ccdc180
|
UTSW |
4 |
45,914,603 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R5177:Ccdc180
|
UTSW |
4 |
45,917,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5311:Ccdc180
|
UTSW |
4 |
45,917,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5333:Ccdc180
|
UTSW |
4 |
45,890,935 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5448:Ccdc180
|
UTSW |
4 |
45,920,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5510:Ccdc180
|
UTSW |
4 |
45,928,046 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6018:Ccdc180
|
UTSW |
4 |
45,926,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6108:Ccdc180
|
UTSW |
4 |
45,911,389 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6283:Ccdc180
|
UTSW |
4 |
45,902,486 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6483:Ccdc180
|
UTSW |
4 |
45,921,950 (GRCm39) |
missense |
probably benign |
0.32 |
|
R6618:Ccdc180
|
UTSW |
4 |
45,950,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7017:Ccdc180
|
UTSW |
4 |
45,940,934 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7205:Ccdc180
|
UTSW |
4 |
45,914,588 (GRCm39) |
missense |
probably benign |
|
|
R7341:Ccdc180
|
UTSW |
4 |
45,898,644 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7351:Ccdc180
|
UTSW |
4 |
45,903,887 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7418:Ccdc180
|
UTSW |
4 |
45,904,616 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7492:Ccdc180
|
UTSW |
4 |
45,930,009 (GRCm39) |
splice site |
probably null |
|
|
R7573:Ccdc180
|
UTSW |
4 |
45,922,015 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7639:Ccdc180
|
UTSW |
4 |
45,928,043 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7792:Ccdc180
|
UTSW |
4 |
45,890,389 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7806:Ccdc180
|
UTSW |
4 |
45,912,801 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7812:Ccdc180
|
UTSW |
4 |
45,906,952 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7840:Ccdc180
|
UTSW |
4 |
45,900,461 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7842:Ccdc180
|
UTSW |
4 |
45,909,428 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8712:Ccdc180
|
UTSW |
4 |
45,920,842 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8818:Ccdc180
|
UTSW |
4 |
45,900,484 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8961:Ccdc180
|
UTSW |
4 |
45,929,573 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R8983:Ccdc180
|
UTSW |
4 |
45,909,359 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9035:Ccdc180
|
UTSW |
4 |
45,906,922 (GRCm39) |
nonsense |
probably null |
|
|
R9095:Ccdc180
|
UTSW |
4 |
45,949,466 (GRCm39) |
nonsense |
probably null |
|
|
R9240:Ccdc180
|
UTSW |
4 |
45,917,566 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9293:Ccdc180
|
UTSW |
4 |
45,944,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9328:Ccdc180
|
UTSW |
4 |
45,902,447 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9346:Ccdc180
|
UTSW |
4 |
45,927,953 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9521:Ccdc180
|
UTSW |
4 |
45,916,283 (GRCm39) |
missense |
probably null |
0.50 |
|
R9653:Ccdc180
|
UTSW |
4 |
45,923,495 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9667:Ccdc180
|
UTSW |
4 |
45,920,861 (GRCm39) |
nonsense |
probably null |
|
|
X0017:Ccdc180
|
UTSW |
4 |
45,909,350 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
Z1176:Ccdc180
|
UTSW |
4 |
45,920,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Ccdc180
|
UTSW |
4 |
45,916,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGTTGAGAGTGAGAAAGCATCCT -3'
(R):5'- CCGTGGAGGGAAGGGTTC -3'
Sequencing Primer
(F):5'- CCTGAAGGGCTGTTGTAAAATCC -3'
(R):5'- TTAGAAGTGCCCAGCCATTG -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation