Incidental Mutation 'IGL01082:Ccdc116'
ID |
52894 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ccdc116
|
Ensembl Gene |
ENSMUSG00000022768 |
Gene Name |
coiled-coil domain containing 116 |
Synonyms |
4930432J16Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01082
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
16956928-16965093 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 16959856 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 278
(S278P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155923
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023452]
[ENSMUST00000069064]
[ENSMUST00000115709]
[ENSMUST00000115711]
[ENSMUST00000232033]
[ENSMUST00000232540]
[ENSMUST00000232479]
[ENSMUST00000231493]
[ENSMUST00000231708]
[ENSMUST00000231597]
[ENSMUST00000232344]
[ENSMUST00000231726]
|
AlphaFold |
Q80X53 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000023452
AA Change: S278P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000023452 Gene: ENSMUSG00000022768 AA Change: S278P
Domain | Start | End | E-Value | Type |
low complexity region
|
116 |
127 |
N/A |
INTRINSIC |
low complexity region
|
150 |
161 |
N/A |
INTRINSIC |
low complexity region
|
190 |
206 |
N/A |
INTRINSIC |
low complexity region
|
488 |
503 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000069064
|
SMART Domains |
Protein: ENSMUSP00000069864 Gene: ENSMUSG00000041774
Domain | Start | End | E-Value | Type |
Pfam:YdjC
|
7 |
288 |
1.3e-68 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000115709
AA Change: S278P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000111374 Gene: ENSMUSG00000022768 AA Change: S278P
Domain | Start | End | E-Value | Type |
low complexity region
|
116 |
127 |
N/A |
INTRINSIC |
low complexity region
|
150 |
161 |
N/A |
INTRINSIC |
low complexity region
|
190 |
206 |
N/A |
INTRINSIC |
low complexity region
|
488 |
503 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000115711
AA Change: S278P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000111376 Gene: ENSMUSG00000022768 AA Change: S278P
Domain | Start | End | E-Value | Type |
Pfam:DUF4702
|
18 |
411 |
6.3e-223 |
PFAM |
low complexity region
|
488 |
503 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137267
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142576
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143317
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145198
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145792
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000232033
AA Change: S278P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000232540
AA Change: S278P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000232479
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231493
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231502
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231708
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231539
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231970
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231597
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231975
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000232344
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231726
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
G |
A |
1: 71,353,273 (GRCm39) |
S723F |
probably damaging |
Het |
Cacng5 |
C |
T |
11: 107,772,531 (GRCm39) |
V106I |
probably benign |
Het |
Cep152 |
A |
T |
2: 125,411,465 (GRCm39) |
|
probably benign |
Het |
Cftr |
T |
C |
6: 18,226,102 (GRCm39) |
V350A |
probably damaging |
Het |
Dsc2 |
A |
T |
18: 20,176,849 (GRCm39) |
N399K |
probably damaging |
Het |
Eif3d |
T |
C |
15: 77,843,943 (GRCm39) |
T468A |
probably damaging |
Het |
Fam110b |
C |
T |
4: 5,799,461 (GRCm39) |
A293V |
possibly damaging |
Het |
Flrt1 |
T |
C |
19: 7,073,339 (GRCm39) |
T403A |
probably benign |
Het |
H3c6 |
A |
G |
13: 23,746,548 (GRCm39) |
|
probably benign |
Het |
Ift140 |
T |
A |
17: 25,267,429 (GRCm39) |
V609E |
possibly damaging |
Het |
Klb |
G |
A |
5: 65,533,283 (GRCm39) |
V531I |
possibly damaging |
Het |
Krt73 |
T |
C |
15: 101,707,372 (GRCm39) |
|
probably null |
Het |
Mcm2 |
A |
G |
6: 88,864,859 (GRCm39) |
V539A |
probably benign |
Het |
Myb |
A |
G |
10: 21,028,843 (GRCm39) |
V85A |
probably damaging |
Het |
Ndufs1 |
T |
C |
1: 63,203,976 (GRCm39) |
E102G |
probably damaging |
Het |
Nr5a2 |
C |
A |
1: 136,773,206 (GRCm39) |
A499S |
probably benign |
Het |
Opa1 |
A |
T |
16: 29,436,933 (GRCm39) |
|
probably benign |
Het |
Or14j5 |
T |
A |
17: 38,161,514 (GRCm39) |
S10R |
probably benign |
Het |
Or4a47 |
A |
T |
2: 89,674,407 (GRCm39) |
|
probably benign |
Het |
Or4c11b |
T |
C |
2: 88,625,637 (GRCm39) |
F304L |
probably benign |
Het |
Pcnx1 |
G |
A |
12: 82,037,372 (GRCm39) |
E1877K |
possibly damaging |
Het |
Sel1l |
A |
G |
12: 91,778,682 (GRCm39) |
V711A |
probably benign |
Het |
Slc22a16 |
A |
G |
10: 40,449,860 (GRCm39) |
T120A |
probably benign |
Het |
Slc26a1 |
G |
T |
5: 108,819,744 (GRCm39) |
T485N |
possibly damaging |
Het |
Sp100 |
T |
C |
1: 85,597,741 (GRCm39) |
V201A |
possibly damaging |
Het |
Spz1 |
T |
G |
13: 92,712,029 (GRCm39) |
K149T |
probably damaging |
Het |
Stxbp5l |
A |
G |
16: 37,024,940 (GRCm39) |
S553P |
possibly damaging |
Het |
Szt2 |
A |
G |
4: 118,254,821 (GRCm39) |
S290P |
probably damaging |
Het |
Tbc1d10c |
A |
G |
19: 4,239,026 (GRCm39) |
Y165H |
probably damaging |
Het |
Tnxb |
C |
A |
17: 34,933,584 (GRCm39) |
Q2335K |
probably damaging |
Het |
Trim33 |
T |
C |
3: 103,234,175 (GRCm39) |
I471T |
possibly damaging |
Het |
Vsig10 |
A |
G |
5: 117,472,970 (GRCm39) |
I188V |
probably benign |
Het |
Zfp109 |
A |
T |
7: 23,933,784 (GRCm39) |
L45Q |
probably damaging |
Het |
|
Other mutations in Ccdc116 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01905:Ccdc116
|
APN |
16 |
16,960,425 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02751:Ccdc116
|
APN |
16 |
16,959,836 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03183:Ccdc116
|
APN |
16 |
16,960,718 (GRCm39) |
missense |
probably benign |
0.07 |
R0009:Ccdc116
|
UTSW |
16 |
16,961,903 (GRCm39) |
missense |
probably damaging |
1.00 |
R0009:Ccdc116
|
UTSW |
16 |
16,961,903 (GRCm39) |
missense |
probably damaging |
1.00 |
R0122:Ccdc116
|
UTSW |
16 |
16,960,598 (GRCm39) |
missense |
probably damaging |
1.00 |
R0219:Ccdc116
|
UTSW |
16 |
16,959,476 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1664:Ccdc116
|
UTSW |
16 |
16,960,492 (GRCm39) |
missense |
probably benign |
0.02 |
R1718:Ccdc116
|
UTSW |
16 |
16,959,772 (GRCm39) |
missense |
probably benign |
|
R2921:Ccdc116
|
UTSW |
16 |
16,960,307 (GRCm39) |
missense |
probably benign |
0.02 |
R2922:Ccdc116
|
UTSW |
16 |
16,960,307 (GRCm39) |
missense |
probably benign |
0.02 |
R2923:Ccdc116
|
UTSW |
16 |
16,960,307 (GRCm39) |
missense |
probably benign |
0.02 |
R4119:Ccdc116
|
UTSW |
16 |
16,960,051 (GRCm39) |
missense |
probably damaging |
1.00 |
R4223:Ccdc116
|
UTSW |
16 |
16,964,809 (GRCm39) |
unclassified |
probably benign |
|
R5000:Ccdc116
|
UTSW |
16 |
16,959,657 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5293:Ccdc116
|
UTSW |
16 |
16,959,651 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5435:Ccdc116
|
UTSW |
16 |
16,960,626 (GRCm39) |
missense |
probably benign |
0.38 |
R6694:Ccdc116
|
UTSW |
16 |
16,960,655 (GRCm39) |
missense |
probably benign |
0.44 |
R7215:Ccdc116
|
UTSW |
16 |
16,957,792 (GRCm39) |
missense |
probably damaging |
1.00 |
R7247:Ccdc116
|
UTSW |
16 |
16,957,555 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7771:Ccdc116
|
UTSW |
16 |
16,957,455 (GRCm39) |
missense |
probably benign |
0.00 |
R9591:Ccdc116
|
UTSW |
16 |
16,960,598 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Ccdc116
|
UTSW |
16 |
16,965,035 (GRCm39) |
unclassified |
probably benign |
|
|
Posted On |
2013-06-21 |