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 |
Incidental Mutation