Incidental Mutation 'R2022:Ccdc180'
| ID |
224094 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc180
|
| Ensembl Gene |
ENSMUSG00000035539 |
| Gene Name |
coiled-coil domain containing 180 |
| Synonyms |
LOC381522, E230008N13Rik |
| MMRRC Submission |
040031-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2022 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
45890303-45950774 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 45944418 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Asparagine
at position 1423
(H1423N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136714
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000178561]
|
| AlphaFold |
J3QNE4 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000149903
AA Change: H1247N
|
| SMART Domains |
Protein: ENSMUSP00000119784
Gene: ENSMUSG00000035539
AA Change: H1247N
| 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: H1423N
PolyPhen 2
Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000136714
Gene: ENSMUSG00000035539
AA Change: H1423N
| 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: 97.1%
- 20x: 94.7%
|
| 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: 89 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
A |
T |
8: 44,078,954 (GRCm39) |
C423* |
probably null |
Het |
| Akr1cl |
T |
A |
1: 65,053,857 (GRCm39) |
Y271F |
probably benign |
Het |
| Asnsd1 |
A |
G |
1: 53,386,386 (GRCm39) |
S414P |
possibly damaging |
Het |
| Atp12a |
T |
A |
14: 56,602,739 (GRCm39) |
M1K |
probably null |
Het |
| Atp4b |
A |
C |
8: 13,437,477 (GRCm39) |
N225K |
possibly damaging |
Het |
| Auh |
G |
A |
13: 52,989,532 (GRCm39) |
P308L |
probably benign |
Het |
| Cactin |
C |
T |
10: 81,158,727 (GRCm39) |
T231I |
possibly damaging |
Het |
| Casp8ap2 |
T |
C |
4: 32,644,560 (GRCm39) |
V1211A |
probably benign |
Het |
| Cfap251 |
G |
A |
5: 123,411,853 (GRCm39) |
G495D |
probably benign |
Het |
| Chd9 |
T |
C |
8: 91,761,682 (GRCm39) |
Y2256H |
probably benign |
Het |
| Chst8 |
A |
G |
7: 34,374,589 (GRCm39) |
Y417H |
possibly damaging |
Het |
| Clcn6 |
A |
G |
4: 148,095,109 (GRCm39) |
|
probably null |
Het |
| Clec5a |
A |
T |
6: 40,562,128 (GRCm39) |
V12E |
probably damaging |
Het |
| Crebbp |
C |
T |
16: 3,903,683 (GRCm39) |
R1852H |
probably damaging |
Het |
| Cyp2c40 |
T |
A |
19: 39,801,224 (GRCm39) |
|
probably benign |
Het |
| Dip2c |
T |
C |
13: 9,601,836 (GRCm39) |
L265P |
probably damaging |
Het |
| Dnah3 |
A |
G |
7: 119,550,465 (GRCm39) |
Y3274H |
probably damaging |
Het |
| Dnah6 |
T |
A |
6: 73,004,405 (GRCm39) |
T3853S |
probably benign |
Het |
| Dnttip2 |
T |
C |
3: 122,069,870 (GRCm39) |
S362P |
probably damaging |
Het |
| Dst |
G |
A |
1: 34,205,372 (GRCm39) |
V1025I |
possibly damaging |
Het |
| Dym |
T |
C |
18: 75,213,321 (GRCm39) |
V181A |
probably benign |
Het |
| Dynlt4 |
A |
G |
4: 116,985,504 (GRCm39) |
E109G |
possibly damaging |
Het |
| Elk3 |
T |
A |
10: 93,101,539 (GRCm39) |
I71F |
probably damaging |
Het |
| Epb41l4a |
C |
T |
18: 34,054,893 (GRCm39) |
S65N |
probably benign |
Het |
| Erap1 |
T |
A |
13: 74,814,627 (GRCm39) |
V451E |
probably benign |
Het |
| F830045P16Rik |
T |
A |
2: 129,314,585 (GRCm39) |
I231F |
probably damaging |
Het |
| Fahd1 |
T |
C |
17: 25,068,814 (GRCm39) |
I88V |
probably benign |
Het |
| Fam120b |
C |
T |
17: 15,644,638 (GRCm39) |
T744I |
possibly damaging |
Het |
| Fam83f |
T |
G |
15: 80,576,468 (GRCm39) |
V373G |
possibly damaging |
Het |
| Frem1 |
G |
T |
4: 82,831,795 (GRCm39) |
T1988K |
probably benign |
Het |
| Gdap1l1 |
A |
T |
2: 163,289,517 (GRCm39) |
T161S |
probably benign |
Het |
| Gm6309 |
C |
T |
5: 146,105,121 (GRCm39) |
G264D |
probably benign |
Het |
| Hsd11b1 |
T |
C |
1: 192,922,686 (GRCm39) |
T124A |
probably benign |
Het |
| Ino80b |
A |
G |
6: 83,101,353 (GRCm39) |
M119T |
probably damaging |
Het |
| Kif3a |
G |
A |
11: 53,461,408 (GRCm39) |
V17M |
probably damaging |
Het |
| Krt40 |
T |
A |
11: 99,430,818 (GRCm39) |
E285D |
probably damaging |
Het |
| Lair1 |
C |
G |
7: 4,066,063 (GRCm39) |
|
probably null |
Het |
| Lvrn |
A |
G |
18: 46,999,503 (GRCm39) |
T290A |
possibly damaging |
Het |
| Macf1 |
G |
T |
4: 123,366,523 (GRCm39) |
A2746E |
probably damaging |
Het |
| Matn4 |
A |
G |
2: 164,242,573 (GRCm39) |
V175A |
probably damaging |
Het |
| Mok |
A |
T |
12: 110,778,257 (GRCm39) |
D216E |
probably benign |
Het |
| Muc15 |
A |
T |
2: 110,561,821 (GRCm39) |
T86S |
probably benign |
Het |
| Myo16 |
A |
G |
8: 10,322,633 (GRCm39) |
K21R |
probably benign |
Het |
| Ncl |
A |
G |
1: 86,284,677 (GRCm39) |
|
probably null |
Het |
| Nfrkb |
C |
T |
9: 31,322,546 (GRCm39) |
T872I |
probably benign |
Het |
| Nhlrc2 |
A |
T |
19: 56,585,710 (GRCm39) |
E648D |
probably benign |
Het |
| Nlrp9c |
A |
T |
7: 26,084,221 (GRCm39) |
Y453N |
probably damaging |
Het |
| Notch4 |
T |
C |
17: 34,806,502 (GRCm39) |
L1813P |
probably damaging |
Het |
| Nrg3 |
T |
A |
14: 38,098,309 (GRCm39) |
D515V |
probably damaging |
Het |
| Nsd1 |
T |
C |
13: 55,361,092 (GRCm39) |
V20A |
probably damaging |
Het |
| Opn4 |
T |
A |
14: 34,319,028 (GRCm39) |
T186S |
probably benign |
Het |
| Or9k2 |
T |
C |
10: 129,999,049 (GRCm39) |
M49V |
probably benign |
Het |
| Pcdh15 |
T |
G |
10: 74,467,025 (GRCm39) |
S1684A |
possibly damaging |
Het |
| Phf11a |
T |
A |
14: 59,532,363 (GRCm39) |
E24V |
possibly damaging |
Het |
| Pigg |
A |
T |
5: 108,460,788 (GRCm39) |
|
probably benign |
Het |
| Plscr2 |
A |
G |
9: 92,177,647 (GRCm39) |
D136G |
probably damaging |
Het |
| Ppp3r2 |
T |
C |
4: 49,681,723 (GRCm39) |
I76V |
probably benign |
Het |
| Prdm6 |
A |
G |
18: 53,598,031 (GRCm39) |
|
probably benign |
Het |
| Prex1 |
A |
G |
2: 166,417,534 (GRCm39) |
W1188R |
possibly damaging |
Het |
| Prmt2 |
T |
A |
10: 76,061,292 (GRCm39) |
R65* |
probably null |
Het |
| Prom1 |
G |
T |
5: 44,187,068 (GRCm39) |
D396E |
probably benign |
Het |
| Ptcd3 |
C |
T |
6: 71,862,537 (GRCm39) |
C466Y |
probably damaging |
Het |
| Ptk2 |
A |
G |
15: 73,114,255 (GRCm39) |
V701A |
possibly damaging |
Het |
| Rab36 |
T |
C |
10: 74,888,306 (GRCm39) |
I250T |
probably benign |
Het |
| Rsf1 |
G |
A |
7: 97,229,117 (GRCm39) |
|
probably benign |
Het |
| Scn11a |
G |
T |
9: 119,640,274 (GRCm39) |
A207E |
possibly damaging |
Het |
| Serpinb3d |
A |
G |
1: 107,006,182 (GRCm39) |
V302A |
probably benign |
Het |
| Slc22a16 |
T |
C |
10: 40,467,873 (GRCm39) |
Y469H |
probably damaging |
Het |
| Smo |
A |
G |
6: 29,754,715 (GRCm39) |
N262D |
possibly damaging |
Het |
| Spata31e5 |
A |
T |
1: 28,817,234 (GRCm39) |
V266D |
probably damaging |
Het |
| Sptan1 |
C |
T |
2: 29,897,573 (GRCm39) |
A1212V |
probably damaging |
Het |
| Ssr1 |
C |
T |
13: 38,173,525 (GRCm39) |
A79T |
probably damaging |
Het |
| Tiam1 |
T |
A |
16: 89,674,075 (GRCm39) |
T479S |
probably benign |
Het |
| Tm9sf3 |
A |
G |
19: 41,227,231 (GRCm39) |
F280S |
probably damaging |
Het |
| Tmem72 |
T |
C |
6: 116,673,800 (GRCm39) |
H106R |
probably damaging |
Het |
| Tnr |
A |
G |
1: 159,679,592 (GRCm39) |
I189V |
probably benign |
Het |
| Tpbpa |
T |
A |
13: 61,088,036 (GRCm39) |
N50I |
probably benign |
Het |
| Tshz1 |
T |
A |
18: 84,031,987 (GRCm39) |
Y807F |
probably damaging |
Het |
| Tspo2 |
C |
T |
17: 48,755,750 (GRCm39) |
A131T |
possibly damaging |
Het |
| Usp16 |
T |
C |
16: 87,270,014 (GRCm39) |
L322P |
probably damaging |
Het |
| Vmn1r185 |
A |
G |
7: 26,310,935 (GRCm39) |
V190A |
possibly damaging |
Het |
| Vmn1r34 |
T |
C |
6: 66,614,385 (GRCm39) |
K118E |
possibly damaging |
Het |
| Vmn1r68 |
A |
G |
7: 10,261,918 (GRCm39) |
L60P |
probably damaging |
Het |
| Vmn2r-ps158 |
A |
G |
7: 42,673,454 (GRCm39) |
N171D |
probably benign |
Het |
| Vps51 |
T |
C |
19: 6,121,612 (GRCm39) |
E162G |
probably benign |
Het |
| Yy1 |
CGGG |
CGGGGGG |
12: 108,759,916 (GRCm39) |
|
probably benign |
Het |
| Zdhhc4 |
C |
T |
5: 143,307,538 (GRCm39) |
R161H |
probably damaging |
Het |
| Zfp456 |
A |
T |
13: 67,514,616 (GRCm39) |
C363* |
probably null |
Het |
| Zfp541 |
T |
A |
7: 15,816,110 (GRCm39) |
S866T |
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 |
|
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'- CCACCAGAGACCCATGTTTTC -3'
(R):5'- TCACATACGGCCCAGAGTTTG -3'
Sequencing Primer
(F):5'- CTCCCTTTGTTAGAGACATGGC -3'
(R):5'- TGGCTTAGCTACGAATTTGCCAG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation