Incidental Mutation 'R0126:Ccdc180'
| ID |
60479 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc180
|
| Ensembl Gene |
ENSMUSG00000035539 |
| Gene Name |
coiled-coil domain containing 180 |
| Synonyms |
LOC381522, E230008N13Rik |
| MMRRC Submission |
038411-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0126 (G1)
|
| Quality Score |
115 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
45890303-45950774 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 45912866 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136714
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000178561]
|
| AlphaFold |
J3QNE4 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127261
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000149903
|
| SMART Domains |
Protein: ENSMUSP00000119784
Gene: ENSMUSG00000035539
| 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: ENSMUST00000151024
|
| SMART Domains |
Protein: ENSMUSP00000122332
Gene: ENSMUSG00000035539
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
38 |
55 |
N/A |
INTRINSIC |
|
coiled coil region
|
90 |
160 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000178561
|
| SMART Domains |
Protein: ENSMUSP00000136714
Gene: ENSMUSG00000035539
| 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 |
|
| Meta Mutation Damage Score |
0.9495 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.6%
- 10x: 93.2%
- 20x: 81.8%
|
| Validation Efficiency |
98% (102/104) |
| 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: 85 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
T |
C |
2: 25,333,742 (GRCm39) |
L1730P |
possibly damaging |
Het |
| Adam9 |
T |
C |
8: 25,460,753 (GRCm39) |
N577S |
probably damaging |
Het |
| Add1 |
T |
C |
5: 34,770,923 (GRCm39) |
Y316H |
probably benign |
Het |
| Agpat3 |
T |
C |
10: 78,113,890 (GRCm39) |
D266G |
probably null |
Het |
| Aldh3a2 |
C |
A |
11: 61,115,384 (GRCm39) |
Q524H |
probably benign |
Het |
| Alox12b |
A |
C |
11: 69,058,297 (GRCm39) |
S550R |
probably benign |
Het |
| Ano4 |
T |
A |
10: 88,788,154 (GRCm39) |
I753F |
possibly damaging |
Het |
| AW011738 |
T |
A |
4: 156,288,104 (GRCm39) |
|
probably benign |
Het |
| B4galt3 |
C |
T |
1: 171,103,738 (GRCm39) |
T103M |
probably damaging |
Het |
| Cabs1 |
C |
T |
5: 88,128,054 (GRCm39) |
T235I |
probably damaging |
Het |
| Casq2 |
A |
G |
3: 102,040,715 (GRCm39) |
H272R |
probably damaging |
Het |
| Cdh12 |
A |
T |
15: 21,584,031 (GRCm39) |
M624L |
probably benign |
Het |
| Cdh5 |
A |
C |
8: 104,867,314 (GRCm39) |
|
probably null |
Het |
| Col7a1 |
A |
G |
9: 108,798,651 (GRCm39) |
|
probably benign |
Het |
| Cpne2 |
A |
T |
8: 95,281,561 (GRCm39) |
I199F |
probably damaging |
Het |
| Crebbp |
A |
T |
16: 3,901,927 (GRCm39) |
F2399L |
possibly damaging |
Het |
| Defb36 |
T |
C |
2: 152,454,499 (GRCm39) |
C53R |
probably damaging |
Het |
| Degs1 |
T |
C |
1: 182,107,257 (GRCm39) |
M1V |
probably null |
Het |
| Disp2 |
T |
A |
2: 118,620,819 (GRCm39) |
F517Y |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,246,465 (GRCm39) |
D601G |
probably benign |
Het |
| Dnpep |
G |
A |
1: 75,289,182 (GRCm39) |
Q310* |
probably null |
Het |
| Dsg1a |
A |
G |
18: 20,473,935 (GRCm39) |
T1003A |
probably benign |
Het |
| Fbrsl1 |
C |
G |
5: 110,543,906 (GRCm39) |
|
probably benign |
Het |
| Foxh1 |
A |
T |
15: 76,553,454 (GRCm39) |
L116H |
probably damaging |
Het |
| Gigyf2 |
G |
A |
1: 87,339,597 (GRCm39) |
|
probably benign |
Het |
| Golm2 |
T |
C |
2: 121,736,565 (GRCm39) |
|
probably benign |
Het |
| Gp1ba |
A |
T |
11: 70,531,859 (GRCm39) |
|
probably benign |
Het |
| Gucy1b1 |
A |
G |
3: 81,945,218 (GRCm39) |
|
probably benign |
Het |
| Gucy2g |
T |
G |
19: 55,229,598 (GRCm39) |
D24A |
probably benign |
Het |
| Hirip3 |
A |
G |
7: 126,462,614 (GRCm39) |
K190R |
probably damaging |
Het |
| Hmmr |
T |
C |
11: 40,596,781 (GRCm39) |
N717D |
probably damaging |
Het |
| Il12b |
A |
T |
11: 44,301,045 (GRCm39) |
Y187F |
probably damaging |
Het |
| Iqgap1 |
A |
G |
7: 80,388,070 (GRCm39) |
I859T |
probably benign |
Het |
| Jmjd1c |
T |
C |
10: 67,055,105 (GRCm39) |
L175P |
probably damaging |
Het |
| Klc2 |
T |
C |
19: 5,162,774 (GRCm39) |
M242V |
possibly damaging |
Het |
| Klf3 |
T |
C |
5: 64,979,446 (GRCm39) |
M96T |
probably benign |
Het |
| Lrrc66 |
G |
T |
5: 73,764,431 (GRCm39) |
H871N |
probably benign |
Het |
| Ltn1 |
A |
T |
16: 87,222,528 (GRCm39) |
D168E |
probably benign |
Het |
| Mak |
T |
C |
13: 41,186,072 (GRCm39) |
D532G |
probably damaging |
Het |
| Marchf6 |
A |
G |
15: 31,462,151 (GRCm39) |
M859T |
probably benign |
Het |
| Meak7 |
T |
C |
8: 120,489,089 (GRCm39) |
D398G |
possibly damaging |
Het |
| Mlxipl |
C |
A |
5: 135,161,177 (GRCm39) |
N365K |
probably damaging |
Het |
| Mplkip |
T |
C |
13: 17,870,337 (GRCm39) |
S90P |
possibly damaging |
Het |
| Myo5c |
A |
T |
9: 75,176,807 (GRCm39) |
H584L |
probably benign |
Het |
| Myt1l |
A |
G |
12: 29,901,719 (GRCm39) |
T228A |
possibly damaging |
Het |
| Nxpe3 |
A |
T |
16: 55,686,592 (GRCm39) |
Y139N |
possibly damaging |
Het |
| Or2z8 |
C |
T |
8: 72,812,244 (GRCm39) |
T240M |
probably damaging |
Het |
| Or51f2 |
A |
G |
7: 102,526,347 (GRCm39) |
T7A |
probably benign |
Het |
| Or8k40 |
T |
A |
2: 86,584,981 (GRCm39) |
I34L |
probably damaging |
Het |
| Pak6 |
C |
T |
2: 118,520,813 (GRCm39) |
S268F |
possibly damaging |
Het |
| Parp10 |
G |
A |
15: 76,127,266 (GRCm39) |
A57V |
probably damaging |
Het |
| Pik3r3 |
T |
A |
4: 116,113,465 (GRCm39) |
D69E |
probably damaging |
Het |
| Polr2a |
T |
G |
11: 69,638,251 (GRCm39) |
K105T |
probably damaging |
Het |
| Prdm16 |
A |
T |
4: 154,413,295 (GRCm39) |
|
probably benign |
Het |
| Prepl |
G |
A |
17: 85,390,670 (GRCm39) |
T96I |
probably benign |
Het |
| Ret |
C |
T |
6: 118,142,956 (GRCm39) |
|
probably benign |
Het |
| Rgl3 |
A |
T |
9: 21,887,108 (GRCm39) |
D541E |
probably benign |
Het |
| Rpa1 |
A |
C |
11: 75,209,355 (GRCm39) |
Y143D |
probably benign |
Het |
| Rps16 |
T |
A |
7: 28,050,508 (GRCm39) |
L47Q |
probably damaging |
Het |
| Sbno2 |
A |
T |
10: 79,904,687 (GRCm39) |
|
probably null |
Het |
| Scube1 |
A |
T |
15: 83,505,264 (GRCm39) |
N385K |
probably damaging |
Het |
| Shank2 |
A |
G |
7: 143,585,092 (GRCm39) |
E31G |
probably damaging |
Het |
| Slc38a9 |
G |
T |
13: 112,865,791 (GRCm39) |
C496F |
possibly damaging |
Het |
| Snap47 |
A |
G |
11: 59,328,813 (GRCm39) |
V163A |
probably damaging |
Het |
| Sntg2 |
T |
C |
12: 30,251,260 (GRCm39) |
|
probably benign |
Het |
| Sp7 |
C |
A |
15: 102,266,895 (GRCm39) |
V322F |
probably damaging |
Het |
| Spic |
T |
C |
10: 88,511,924 (GRCm39) |
K111E |
probably damaging |
Het |
| Sqor |
T |
C |
2: 122,639,947 (GRCm39) |
|
probably benign |
Het |
| St6galnac1 |
T |
A |
11: 116,657,410 (GRCm39) |
M385L |
probably benign |
Het |
| Synpo2 |
A |
T |
3: 122,873,511 (GRCm39) |
S1211T |
possibly damaging |
Het |
| Sytl2 |
T |
A |
7: 90,045,797 (GRCm39) |
V638E |
probably damaging |
Het |
| Taar1 |
T |
A |
10: 23,796,445 (GRCm39) |
S48T |
probably benign |
Het |
| Tbx18 |
T |
A |
9: 87,611,706 (GRCm39) |
D108V |
possibly damaging |
Het |
| Tdh |
C |
T |
14: 63,735,042 (GRCm39) |
|
probably benign |
Het |
| Tlr9 |
T |
A |
9: 106,102,881 (GRCm39) |
L724Q |
probably benign |
Het |
| Tmem270 |
T |
A |
5: 134,931,642 (GRCm39) |
Y100F |
probably benign |
Het |
| Trim65 |
G |
C |
11: 116,015,430 (GRCm39) |
|
probably benign |
Het |
| Trrap |
A |
T |
5: 144,742,560 (GRCm39) |
K1393* |
probably null |
Het |
| Ttc13 |
A |
G |
8: 125,410,030 (GRCm39) |
V523A |
probably damaging |
Het |
| Utrn |
T |
A |
10: 12,587,219 (GRCm39) |
D939V |
probably benign |
Het |
| Vmn1r46 |
G |
T |
6: 89,953,935 (GRCm39) |
M261I |
probably benign |
Het |
| Vwa5a |
A |
G |
9: 38,649,103 (GRCm39) |
|
probably null |
Het |
| Zfp108 |
A |
T |
7: 23,960,149 (GRCm39) |
T247S |
probably benign |
Het |
| Zfp366 |
A |
T |
13: 99,365,129 (GRCm39) |
I97F |
probably benign |
Het |
| Zfp986 |
C |
T |
4: 145,625,513 (GRCm39) |
R58C |
probably benign |
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 |
|
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 |
|
R2056:Ccdc180
|
UTSW |
4 |
45,932,477 (GRCm39) |
missense |
probably benign |
0.03 |
|
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'- ACAATGCCAGTTGCCAGACAGAG -3'
(R):5'- TCTTCATCCTTGACATCCTGACATGGAA -3'
Sequencing Primer
(F):5'- ctccctccctcccctcc -3'
(R):5'- TCCAGCCGATCAGATAGGAA -3'
|
| Posted On |
2013-07-24 |
Incidental Mutation