Incidental Mutation 'R2255:Ccdc180'
| ID |
241931 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc180
|
| Ensembl Gene |
ENSMUSG00000035539 |
| Gene Name |
coiled-coil domain containing 180 |
| Synonyms |
LOC381522, E230008N13Rik |
| MMRRC Submission |
040255-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2255 (G1)
|
| Quality Score |
121 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
45890303-45950774 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 45921996 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 1023
(S1023R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136714
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000178561]
|
| AlphaFold |
J3QNE4 |
| Predicted Effect |
probably benign
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 damaging
Transcript: ENSMUST00000178561
AA Change: S1023R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000136714
Gene: ENSMUSG00000035539
AA Change: S1023R
| 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: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.9%
|
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
G |
A |
17: 46,616,561 (GRCm39) |
T1210I |
probably benign |
Het |
| Agbl1 |
T |
C |
7: 76,071,932 (GRCm39) |
F581S |
probably damaging |
Het |
| Ambra1 |
A |
T |
2: 91,747,806 (GRCm39) |
N1061Y |
probably damaging |
Het |
| Aoc1l1 |
G |
A |
6: 48,952,891 (GRCm39) |
R272H |
possibly damaging |
Het |
| Arl6ip5 |
T |
C |
6: 97,209,361 (GRCm39) |
L132S |
probably damaging |
Het |
| Atp10b |
G |
A |
11: 43,125,207 (GRCm39) |
V1058I |
probably damaging |
Het |
| B3gnt4 |
A |
C |
5: 123,649,342 (GRCm39) |
I236L |
probably damaging |
Het |
| Bmper |
T |
A |
9: 23,292,759 (GRCm39) |
I356N |
possibly damaging |
Het |
| Bpifa6 |
T |
A |
2: 153,832,815 (GRCm39) |
I310N |
probably damaging |
Het |
| Btnl9 |
A |
T |
11: 49,060,143 (GRCm39) |
L535* |
probably null |
Het |
| Capn3 |
A |
G |
2: 120,331,732 (GRCm39) |
E614G |
probably benign |
Het |
| Catip |
T |
C |
1: 74,408,159 (GRCm39) |
|
probably benign |
Het |
| Ces2g |
G |
A |
8: 105,694,046 (GRCm39) |
E461K |
probably damaging |
Het |
| Chad |
C |
A |
11: 94,456,523 (GRCm39) |
H200Q |
possibly damaging |
Het |
| Crbn |
C |
T |
6: 106,772,159 (GRCm39) |
|
probably null |
Het |
| Crip3 |
G |
C |
17: 46,740,298 (GRCm39) |
E33Q |
probably damaging |
Het |
| D130043K22Rik |
A |
T |
13: 25,040,894 (GRCm39) |
R105S |
probably damaging |
Het |
| Dmxl1 |
C |
T |
18: 49,979,706 (GRCm39) |
H114Y |
probably benign |
Het |
| Dpp3 |
T |
C |
19: 4,968,347 (GRCm39) |
N242D |
probably benign |
Het |
| Dtx3l |
T |
C |
16: 35,756,949 (GRCm39) |
N78S |
probably benign |
Het |
| Dync2h1 |
A |
G |
9: 6,955,905 (GRCm39) |
|
probably null |
Het |
| Esrp1 |
A |
G |
4: 11,365,211 (GRCm39) |
V260A |
probably damaging |
Het |
| Etfdh |
A |
G |
3: 79,511,349 (GRCm39) |
V544A |
probably benign |
Het |
| Ezhip |
T |
G |
X: 5,994,754 (GRCm39) |
E87A |
probably benign |
Het |
| Fcgr1 |
G |
T |
3: 96,193,233 (GRCm39) |
H255N |
possibly damaging |
Het |
| Fcrl2 |
G |
T |
3: 87,164,655 (GRCm39) |
Y290* |
probably null |
Het |
| Frem2 |
A |
G |
3: 53,559,935 (GRCm39) |
V1524A |
probably damaging |
Het |
| Gabbr1 |
T |
C |
17: 37,382,758 (GRCm39) |
I817T |
probably damaging |
Het |
| Gapdhs |
G |
C |
7: 30,429,333 (GRCm39) |
|
probably null |
Het |
| Gm57858 |
A |
G |
3: 36,074,099 (GRCm39) |
V350A |
probably benign |
Het |
| Gopc |
A |
T |
10: 52,225,181 (GRCm39) |
I356K |
probably damaging |
Het |
| Gpi1 |
T |
C |
7: 33,902,302 (GRCm39) |
N471S |
probably damaging |
Het |
| Gpr171 |
A |
G |
3: 59,005,628 (GRCm39) |
V49A |
probably benign |
Het |
| Greb1l |
T |
A |
18: 10,554,857 (GRCm39) |
N1634K |
probably damaging |
Het |
| Gria1 |
G |
A |
11: 57,076,775 (GRCm39) |
R57H |
probably damaging |
Het |
| Herpud1 |
A |
G |
8: 95,121,241 (GRCm39) |
E344G |
probably benign |
Het |
| Hhip |
A |
G |
8: 80,771,810 (GRCm39) |
F167L |
probably damaging |
Het |
| Hp1bp3 |
T |
A |
4: 137,953,209 (GRCm39) |
D84E |
probably damaging |
Het |
| Ier3 |
A |
G |
17: 36,133,153 (GRCm39) |
Y145C |
probably damaging |
Het |
| Ifi47 |
A |
T |
11: 48,987,474 (GRCm39) |
I414L |
probably benign |
Het |
| Ifnl2 |
C |
T |
7: 28,209,638 (GRCm39) |
A50T |
possibly damaging |
Het |
| Jade1 |
A |
G |
3: 41,546,185 (GRCm39) |
Y70C |
probably damaging |
Het |
| Kif1b |
A |
T |
4: 149,359,454 (GRCm39) |
F94L |
probably damaging |
Het |
| Krt33a |
A |
T |
11: 99,905,004 (GRCm39) |
D167E |
possibly damaging |
Het |
| Map1a |
A |
G |
2: 121,134,272 (GRCm39) |
D1458G |
possibly damaging |
Het |
| Mrgpra4 |
A |
G |
7: 47,631,523 (GRCm39) |
L26S |
possibly damaging |
Het |
| Mtmr2 |
T |
C |
9: 13,707,353 (GRCm39) |
Y230H |
possibly damaging |
Het |
| Nae1 |
T |
A |
8: 105,256,700 (GRCm39) |
D69V |
probably damaging |
Het |
| Nbr1 |
T |
A |
11: 101,463,643 (GRCm39) |
V625E |
possibly damaging |
Het |
| Nek1 |
T |
C |
8: 61,542,807 (GRCm39) |
L702P |
probably damaging |
Het |
| Ntf3 |
T |
C |
6: 126,078,689 (GRCm39) |
*272W |
probably null |
Het |
| Ofcc1 |
A |
C |
13: 40,248,181 (GRCm39) |
L651R |
probably damaging |
Het |
| Olfm3 |
A |
T |
3: 114,915,842 (GRCm39) |
|
probably null |
Het |
| Pcdhb19 |
C |
T |
18: 37,630,997 (GRCm39) |
A264V |
probably benign |
Het |
| Pear1 |
C |
A |
3: 87,659,493 (GRCm39) |
W780C |
probably damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,635,863 (GRCm39) |
H489L |
probably benign |
Het |
| Pros1 |
T |
A |
16: 62,723,935 (GRCm39) |
C228S |
possibly damaging |
Het |
| Rbm10 |
G |
A |
X: 20,501,978 (GRCm39) |
R9H |
unknown |
Het |
| Rwdd1 |
T |
C |
10: 33,878,466 (GRCm39) |
E123G |
probably damaging |
Het |
| Slc22a2 |
G |
T |
17: 12,818,062 (GRCm39) |
V213F |
probably damaging |
Het |
| Slc34a1 |
T |
C |
13: 24,004,991 (GRCm39) |
I412T |
probably benign |
Het |
| Smarca2 |
A |
T |
19: 26,748,438 (GRCm39) |
I98L |
probably benign |
Het |
| Spag6l |
T |
C |
16: 16,595,203 (GRCm39) |
E394G |
probably damaging |
Het |
| Spdef |
T |
C |
17: 27,939,269 (GRCm39) |
T26A |
probably benign |
Het |
| Stk17b |
T |
C |
1: 53,815,731 (GRCm39) |
I23V |
probably benign |
Het |
| Sult2a7 |
A |
G |
7: 14,225,818 (GRCm39) |
I56T |
probably damaging |
Het |
| Tango6 |
T |
A |
8: 107,415,926 (GRCm39) |
|
probably null |
Het |
| Tex46 |
T |
C |
4: 136,337,844 (GRCm39) |
L12P |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,598,684 (GRCm39) |
M19410L |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Unc5cl |
T |
A |
17: 48,766,974 (GRCm39) |
I116N |
possibly damaging |
Het |
| Unc80 |
A |
T |
1: 66,657,417 (GRCm39) |
I1630F |
possibly damaging |
Het |
| Upb1 |
G |
A |
10: 75,272,051 (GRCm39) |
R288H |
probably damaging |
Het |
| Wdr62 |
T |
G |
7: 29,967,328 (GRCm39) |
I309L |
probably damaging |
Het |
| Whrn |
C |
T |
4: 63,336,385 (GRCm39) |
V295M |
possibly damaging |
Het |
| Wrn |
G |
A |
8: 33,819,230 (GRCm39) |
P241S |
probably benign |
Het |
| Zer1 |
G |
A |
2: 29,998,286 (GRCm39) |
L342F |
probably damaging |
Het |
| Zfp687 |
A |
T |
3: 94,917,748 (GRCm39) |
C675S |
probably damaging |
Het |
| Zfp954 |
A |
G |
7: 7,118,321 (GRCm39) |
Y408H |
possibly 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 |
|
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 |
|
|
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'- CAGAGGAGTTGGGCAGTGTATC -3'
(R):5'- AGCCACTAAATATTCCTGATGTCAC -3'
Sequencing Primer
(F):5'- AGGATTCCCACCAGGCTCAG -3'
(R):5'- ATTCCTGATGTCACAGCATATCTAC -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation