Incidental Mutation 'IGL02433:Ccdc177'
ID |
293197 |
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 # |
IGL02433
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
80802221-80807489 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 80804372 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 634
(D634G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000072982
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073251]
|
AlphaFold |
Q3UHB8 |
Predicted Effect |
unknown
Transcript: ENSMUST00000073251
AA Change: D634G
|
SMART Domains |
Protein: ENSMUSP00000072982 Gene: ENSMUSG00000062961 AA Change: D634G
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: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bche |
T |
C |
3: 73,609,262 (GRCm39) |
T55A |
probably benign |
Het |
Cnot2 |
T |
C |
10: 116,328,241 (GRCm39) |
T498A |
possibly damaging |
Het |
Dock10 |
C |
T |
1: 80,507,905 (GRCm39) |
V1669M |
probably damaging |
Het |
Emilin2 |
T |
C |
17: 71,581,124 (GRCm39) |
E534G |
probably benign |
Het |
Flt4 |
G |
A |
11: 49,521,400 (GRCm39) |
R440H |
probably benign |
Het |
Gm10073 |
T |
C |
8: 107,299,951 (GRCm39) |
Y11C |
probably benign |
Het |
Ighv10-3 |
T |
A |
12: 114,487,514 (GRCm39) |
|
probably benign |
Het |
Krt31 |
T |
C |
11: 99,939,221 (GRCm39) |
Y232C |
probably damaging |
Het |
Muc19 |
G |
A |
15: 91,756,694 (GRCm39) |
|
noncoding transcript |
Het |
Myof |
A |
G |
19: 37,960,641 (GRCm39) |
S467P |
probably benign |
Het |
Nup88 |
C |
T |
11: 70,860,714 (GRCm39) |
V22I |
probably benign |
Het |
Or4f14 |
G |
T |
2: 111,742,762 (GRCm39) |
P171Q |
probably damaging |
Het |
Or6c6c |
A |
T |
10: 129,541,445 (GRCm39) |
T233S |
probably benign |
Het |
Or8h9 |
A |
G |
2: 86,789,392 (GRCm39) |
S137P |
possibly damaging |
Het |
Prag1 |
C |
T |
8: 36,606,722 (GRCm39) |
P821L |
probably damaging |
Het |
Pramel22 |
C |
T |
4: 143,382,007 (GRCm39) |
G230S |
possibly damaging |
Het |
Tap2 |
G |
A |
17: 34,424,393 (GRCm39) |
|
probably benign |
Het |
Tmem68 |
A |
T |
4: 3,569,624 (GRCm39) |
I22N |
possibly damaging |
Het |
Usp17le |
A |
G |
7: 104,418,408 (GRCm39) |
W245R |
probably benign |
Het |
Xpo5 |
G |
T |
17: 46,550,446 (GRCm39) |
C976F |
probably damaging |
Het |
Xrcc1 |
T |
C |
7: 24,264,979 (GRCm39) |
S94P |
possibly damaging |
Het |
Zfp524 |
T |
A |
7: 5,021,091 (GRCm39) |
N206K |
possibly damaging |
Het |
|
Other mutations in Ccdc177 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01598:Ccdc177
|
APN |
12 |
80,805,519 (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 |
2015-04-16 |