Incidental Mutation 'IGL01598:Ccdc177'
ID |
91748 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ccdc177
|
Ensembl Gene |
ENSMUSG00000062961 |
Gene Name |
coiled-coil domain containing 177 |
Synonyms |
Gm1568, LOC380768 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.110)
|
Stock # |
IGL01598
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
80802221-80807489 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 80805519 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 252
(S252P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000072982
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073251]
|
AlphaFold |
Q3UHB8 |
Predicted Effect |
unknown
Transcript: ENSMUST00000073251
AA Change: S252P
|
SMART Domains |
Protein: ENSMUSP00000072982 Gene: ENSMUSG00000062961 AA Change: S252P
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
20 |
N/A |
INTRINSIC |
low complexity region
|
28 |
49 |
N/A |
INTRINSIC |
internal_repeat_1
|
116 |
139 |
2.91e-5 |
PROSPERO |
low complexity region
|
146 |
159 |
N/A |
INTRINSIC |
low complexity region
|
165 |
227 |
N/A |
INTRINSIC |
low complexity region
|
229 |
263 |
N/A |
INTRINSIC |
Pfam:DUF4659
|
332 |
705 |
1.9e-115 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181092
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2410124H12Rik |
T |
A |
16: 92,275,817 (GRCm39) |
|
noncoding transcript |
Het |
Apc2 |
T |
A |
10: 80,148,882 (GRCm39) |
L1283Q |
probably damaging |
Het |
Apol6 |
G |
A |
15: 76,934,916 (GRCm39) |
A62T |
probably damaging |
Het |
AU018091 |
A |
T |
7: 3,212,110 (GRCm39) |
I204N |
possibly damaging |
Het |
B4galnt4 |
G |
T |
7: 140,650,428 (GRCm39) |
R765L |
probably benign |
Het |
Brca1 |
T |
C |
11: 101,415,156 (GRCm39) |
T993A |
probably benign |
Het |
Cadps |
C |
T |
14: 12,522,202 (GRCm38) |
|
probably null |
Het |
Cdc73 |
A |
G |
1: 143,575,017 (GRCm39) |
S59P |
probably damaging |
Het |
Cep63 |
G |
T |
9: 102,467,657 (GRCm39) |
Q570K |
possibly damaging |
Het |
Ces1c |
A |
T |
8: 93,845,041 (GRCm39) |
I120K |
probably benign |
Het |
Cpeb1 |
T |
C |
7: 81,011,549 (GRCm39) |
M131V |
probably benign |
Het |
Dync1h1 |
G |
A |
12: 110,624,562 (GRCm39) |
V3701I |
probably damaging |
Het |
Fxr1 |
T |
C |
3: 34,118,381 (GRCm39) |
S535P |
possibly damaging |
Het |
Gldc |
A |
T |
19: 30,111,156 (GRCm39) |
V540D |
probably damaging |
Het |
Iqcf6 |
A |
G |
9: 106,504,707 (GRCm39) |
T124A |
probably benign |
Het |
Itih4 |
A |
G |
14: 30,609,774 (GRCm39) |
I35V |
possibly damaging |
Het |
Kmt2c |
T |
C |
5: 25,478,664 (GRCm39) |
*1525W |
probably null |
Het |
Kmt2c |
A |
T |
5: 25,559,769 (GRCm39) |
V963E |
probably damaging |
Het |
Lmnb2 |
T |
C |
10: 80,742,999 (GRCm39) |
S202G |
probably benign |
Het |
Med23 |
T |
G |
10: 24,779,696 (GRCm39) |
S924R |
probably benign |
Het |
Or5b102 |
T |
C |
19: 13,041,513 (GRCm39) |
V246A |
probably damaging |
Het |
Pcif1 |
T |
C |
2: 164,728,531 (GRCm39) |
F263L |
possibly damaging |
Het |
Pon2 |
A |
T |
6: 5,272,331 (GRCm39) |
L163H |
probably damaging |
Het |
Scn1a |
C |
T |
2: 66,132,829 (GRCm39) |
V165M |
possibly damaging |
Het |
Sema6d |
C |
A |
2: 124,507,018 (GRCm39) |
P961Q |
probably damaging |
Het |
Snx27 |
A |
G |
3: 94,469,150 (GRCm39) |
Y64H |
probably damaging |
Het |
Srsf11 |
C |
T |
3: 157,717,672 (GRCm39) |
|
probably benign |
Het |
Taok1 |
A |
G |
11: 77,462,510 (GRCm39) |
V193A |
probably damaging |
Het |
Tut4 |
A |
G |
4: 108,408,017 (GRCm39) |
|
probably benign |
Het |
Vps13d |
T |
C |
4: 144,743,471 (GRCm39) |
T4137A |
probably benign |
Het |
Zbtb26 |
T |
C |
2: 37,326,283 (GRCm39) |
Y251C |
probably damaging |
Het |
|
Other mutations in Ccdc177 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02433:Ccdc177
|
APN |
12 |
80,804,372 (GRCm39) |
missense |
unknown |
|
R0829:Ccdc177
|
UTSW |
12 |
80,806,253 (GRCm39) |
missense |
probably damaging |
0.96 |
R1739:Ccdc177
|
UTSW |
12 |
80,806,013 (GRCm39) |
missense |
probably damaging |
1.00 |
R1970:Ccdc177
|
UTSW |
12 |
80,805,486 (GRCm39) |
missense |
unknown |
|
R2337:Ccdc177
|
UTSW |
12 |
80,805,465 (GRCm39) |
missense |
unknown |
|
R5001:Ccdc177
|
UTSW |
12 |
80,804,160 (GRCm39) |
missense |
unknown |
|
R5164:Ccdc177
|
UTSW |
12 |
80,805,336 (GRCm39) |
missense |
unknown |
|
R5249:Ccdc177
|
UTSW |
12 |
80,805,282 (GRCm39) |
missense |
unknown |
|
R5461:Ccdc177
|
UTSW |
12 |
80,804,816 (GRCm39) |
missense |
unknown |
|
R6802:Ccdc177
|
UTSW |
12 |
80,806,057 (GRCm39) |
missense |
probably damaging |
1.00 |
R7051:Ccdc177
|
UTSW |
12 |
80,805,927 (GRCm39) |
missense |
probably damaging |
0.98 |
R7412:Ccdc177
|
UTSW |
12 |
80,805,792 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7510:Ccdc177
|
UTSW |
12 |
80,804,457 (GRCm39) |
missense |
unknown |
|
R7511:Ccdc177
|
UTSW |
12 |
80,804,457 (GRCm39) |
missense |
unknown |
|
R7712:Ccdc177
|
UTSW |
12 |
80,804,712 (GRCm39) |
nonsense |
probably null |
|
R8036:Ccdc177
|
UTSW |
12 |
80,804,897 (GRCm39) |
missense |
unknown |
|
R8693:Ccdc177
|
UTSW |
12 |
80,804,582 (GRCm39) |
missense |
unknown |
|
R8708:Ccdc177
|
UTSW |
12 |
80,805,891 (GRCm39) |
missense |
probably benign |
0.08 |
R8862:Ccdc177
|
UTSW |
12 |
80,804,208 (GRCm39) |
missense |
unknown |
|
R8894:Ccdc177
|
UTSW |
12 |
80,806,077 (GRCm39) |
missense |
probably damaging |
1.00 |
R9423:Ccdc177
|
UTSW |
12 |
80,804,162 (GRCm39) |
missense |
unknown |
|
R9727:Ccdc177
|
UTSW |
12 |
80,806,044 (GRCm39) |
missense |
probably benign |
0.04 |
Z1177:Ccdc177
|
UTSW |
12 |
80,804,510 (GRCm39) |
missense |
unknown |
|
|
Posted On |
2013-12-09 |