Incidental Mutation 'IGL01661:Ccdc17'
ID |
103164 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ccdc17
|
Ensembl Gene |
ENSMUSG00000034035 |
Gene Name |
coiled-coil domain containing 17 |
Synonyms |
1100001F07Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
IGL01661
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
116453927-116457463 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 116455063 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 206
(H206R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000059848
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030456]
[ENSMUST00000030457]
[ENSMUST00000030460]
[ENSMUST00000051869]
[ENSMUST00000081182]
[ENSMUST00000106475]
|
AlphaFold |
Q8CE13 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030456
|
SMART Domains |
Protein: ENSMUSP00000030456 Gene: ENSMUSG00000028693
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
18 |
N/A |
INTRINSIC |
TPR
|
43 |
76 |
8.51e0 |
SMART |
low complexity region
|
111 |
126 |
N/A |
INTRINSIC |
low complexity region
|
152 |
162 |
N/A |
INTRINSIC |
low complexity region
|
336 |
352 |
N/A |
INTRINSIC |
low complexity region
|
455 |
478 |
N/A |
INTRINSIC |
low complexity region
|
492 |
503 |
N/A |
INTRINSIC |
TPR
|
528 |
561 |
3.05e0 |
SMART |
TPR
|
570 |
603 |
2.38e-2 |
SMART |
low complexity region
|
620 |
640 |
N/A |
INTRINSIC |
low complexity region
|
703 |
715 |
N/A |
INTRINSIC |
low complexity region
|
742 |
759 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000030457
|
SMART Domains |
Protein: ENSMUSP00000030457 Gene: ENSMUSG00000028693
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
18 |
N/A |
INTRINSIC |
TPR
|
43 |
76 |
8.51e0 |
SMART |
low complexity region
|
111 |
126 |
N/A |
INTRINSIC |
low complexity region
|
133 |
153 |
N/A |
INTRINSIC |
low complexity region
|
167 |
178 |
N/A |
INTRINSIC |
TPR
|
203 |
236 |
3.05e0 |
SMART |
TPR
|
245 |
278 |
2.38e-2 |
SMART |
low complexity region
|
295 |
315 |
N/A |
INTRINSIC |
low complexity region
|
378 |
390 |
N/A |
INTRINSIC |
low complexity region
|
417 |
434 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000030460
|
SMART Domains |
Protein: ENSMUSP00000030460 Gene: ENSMUSG00000034042
Domain | Start | End | E-Value | Type |
low complexity region
|
204 |
219 |
N/A |
INTRINSIC |
low complexity region
|
237 |
251 |
N/A |
INTRINSIC |
low complexity region
|
289 |
320 |
N/A |
INTRINSIC |
Pfam:Vasculin
|
376 |
470 |
5.1e-48 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000051869
AA Change: H206R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000059848 Gene: ENSMUSG00000034035 AA Change: H206R
Domain | Start | End | E-Value | Type |
coiled coil region
|
97 |
161 |
N/A |
INTRINSIC |
coiled coil region
|
219 |
270 |
N/A |
INTRINSIC |
low complexity region
|
415 |
427 |
N/A |
INTRINSIC |
low complexity region
|
523 |
537 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000081182
|
SMART Domains |
Protein: ENSMUSP00000079946 Gene: ENSMUSG00000028693
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
18 |
N/A |
INTRINSIC |
TPR
|
43 |
76 |
6.2e-2 |
SMART |
low complexity region
|
84 |
99 |
N/A |
INTRINSIC |
low complexity region
|
106 |
126 |
N/A |
INTRINSIC |
low complexity region
|
140 |
151 |
N/A |
INTRINSIC |
TPR
|
176 |
209 |
1.4e-2 |
SMART |
TPR
|
218 |
251 |
1.1e-4 |
SMART |
low complexity region
|
268 |
288 |
N/A |
INTRINSIC |
low complexity region
|
351 |
363 |
N/A |
INTRINSIC |
low complexity region
|
390 |
407 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106475
|
SMART Domains |
Protein: ENSMUSP00000102083 Gene: ENSMUSG00000034042
Domain | Start | End | E-Value | Type |
low complexity region
|
204 |
219 |
N/A |
INTRINSIC |
low complexity region
|
237 |
251 |
N/A |
INTRINSIC |
low complexity region
|
289 |
320 |
N/A |
INTRINSIC |
Pfam:Vasculin
|
377 |
470 |
1.3e-44 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000121907
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142815
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130363
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146777
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148260
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151441
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155398
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(2) : Targeted, knock-out(1) Gene trapped(1) |
Other mutations in this stock |
Total: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca2 |
T |
C |
2: 25,333,007 (GRCm39) |
F1569L |
probably benign |
Het |
Acly |
A |
G |
11: 100,405,168 (GRCm39) |
|
probably benign |
Het |
Adgre5 |
T |
A |
8: 84,454,564 (GRCm39) |
N313I |
probably damaging |
Het |
Cenpo |
C |
T |
12: 4,284,023 (GRCm39) |
|
probably null |
Het |
Galnt5 |
G |
T |
2: 57,889,494 (GRCm39) |
A365S |
probably benign |
Het |
Josd1 |
G |
A |
15: 79,561,328 (GRCm39) |
P160L |
probably damaging |
Het |
Lamc1 |
C |
A |
1: 153,097,319 (GRCm39) |
R1575L |
possibly damaging |
Het |
Mrpl32 |
C |
T |
13: 14,785,178 (GRCm39) |
V153I |
probably benign |
Het |
Mtor |
A |
G |
4: 148,599,308 (GRCm39) |
K1452R |
possibly damaging |
Het |
Nob1 |
T |
C |
8: 108,139,814 (GRCm39) |
Y315C |
probably damaging |
Het |
Or4c58 |
T |
A |
2: 89,674,439 (GRCm39) |
M293L |
probably benign |
Het |
Or8k28 |
T |
C |
2: 86,285,846 (GRCm39) |
I256M |
possibly damaging |
Het |
Prex2 |
A |
G |
1: 11,278,838 (GRCm39) |
N1389S |
probably benign |
Het |
Ptprd |
G |
A |
4: 75,872,320 (GRCm39) |
T1383M |
probably damaging |
Het |
Ralbp1 |
A |
G |
17: 66,168,384 (GRCm39) |
L307P |
probably damaging |
Het |
Sema4f |
A |
G |
6: 82,895,036 (GRCm39) |
|
probably benign |
Het |
Slc2a3 |
A |
G |
6: 122,706,915 (GRCm39) |
V486A |
probably benign |
Het |
Spock2 |
T |
A |
10: 59,959,692 (GRCm39) |
H140Q |
probably damaging |
Het |
Tmc4 |
A |
G |
7: 3,669,926 (GRCm39) |
I610T |
probably damaging |
Het |
Tnc |
T |
C |
4: 63,888,544 (GRCm39) |
|
probably benign |
Het |
Ttll8 |
T |
C |
15: 88,820,202 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Ccdc17 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL03106:Ccdc17
|
APN |
4 |
116,454,033 (GRCm39) |
splice site |
probably null |
|
IGL03169:Ccdc17
|
APN |
4 |
116,454,957 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03288:Ccdc17
|
APN |
4 |
116,456,626 (GRCm39) |
missense |
probably damaging |
1.00 |
dandy
|
UTSW |
4 |
116,456,789 (GRCm39) |
missense |
probably damaging |
1.00 |
Dondi
|
UTSW |
4 |
116,455,745 (GRCm39) |
missense |
probably damaging |
1.00 |
G5030:Ccdc17
|
UTSW |
4 |
116,455,699 (GRCm39) |
missense |
probably benign |
0.42 |
R0628:Ccdc17
|
UTSW |
4 |
116,455,745 (GRCm39) |
missense |
probably damaging |
1.00 |
R1033:Ccdc17
|
UTSW |
4 |
116,454,077 (GRCm39) |
nonsense |
probably null |
|
R2041:Ccdc17
|
UTSW |
4 |
116,456,789 (GRCm39) |
missense |
probably damaging |
1.00 |
R3107:Ccdc17
|
UTSW |
4 |
116,455,464 (GRCm39) |
missense |
probably benign |
0.02 |
R3122:Ccdc17
|
UTSW |
4 |
116,456,749 (GRCm39) |
unclassified |
probably benign |
|
R4498:Ccdc17
|
UTSW |
4 |
116,454,438 (GRCm39) |
unclassified |
probably benign |
|
R5705:Ccdc17
|
UTSW |
4 |
116,454,066 (GRCm39) |
missense |
probably benign |
0.10 |
R6052:Ccdc17
|
UTSW |
4 |
116,457,145 (GRCm39) |
splice site |
probably null |
|
R6083:Ccdc17
|
UTSW |
4 |
116,454,123 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6925:Ccdc17
|
UTSW |
4 |
116,455,407 (GRCm39) |
missense |
probably damaging |
1.00 |
R7677:Ccdc17
|
UTSW |
4 |
116,454,962 (GRCm39) |
critical splice donor site |
probably null |
|
R7847:Ccdc17
|
UTSW |
4 |
116,457,103 (GRCm39) |
missense |
probably benign |
0.34 |
R8195:Ccdc17
|
UTSW |
4 |
116,456,213 (GRCm39) |
missense |
probably damaging |
0.99 |
R8195:Ccdc17
|
UTSW |
4 |
116,456,211 (GRCm39) |
missense |
possibly damaging |
0.75 |
R8428:Ccdc17
|
UTSW |
4 |
116,456,823 (GRCm39) |
missense |
probably damaging |
1.00 |
R8750:Ccdc17
|
UTSW |
4 |
116,457,129 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9296:Ccdc17
|
UTSW |
4 |
116,456,586 (GRCm39) |
missense |
probably damaging |
1.00 |
R9483:Ccdc17
|
UTSW |
4 |
116,454,144 (GRCm39) |
missense |
probably benign |
0.42 |
R9526:Ccdc17
|
UTSW |
4 |
116,455,994 (GRCm39) |
missense |
possibly damaging |
0.69 |
R9589:Ccdc17
|
UTSW |
4 |
116,454,791 (GRCm39) |
missense |
probably benign |
0.25 |
R9715:Ccdc17
|
UTSW |
4 |
116,455,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2014-01-21 |