Incidental Mutation 'IGL03288:Ccdc17'
| ID |
415806 |
| 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 # |
IGL03288
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
116453927-116457463 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 116456626 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 465
(L465H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059848
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030456]
[ENSMUST00000030457]
[ENSMUST00000051869]
[ENSMUST00000081182]
|
| 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 damaging
Transcript: ENSMUST00000051869
AA Change: L465H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000059848
Gene: ENSMUSG00000034035
AA Change: L465H
| 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 |
noncoding transcript
Transcript: ENSMUST00000121907
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130363
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142815
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148260
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151441
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155398
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146777
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap2 |
T |
C |
5: 62,761,959 (GRCm39) |
K1589R |
probably benign |
Het |
| Armc3 |
T |
C |
2: 19,240,293 (GRCm39) |
F17L |
probably damaging |
Het |
| Cdh9 |
A |
T |
15: 16,856,135 (GRCm39) |
D725V |
probably damaging |
Het |
| Cert1 |
T |
A |
13: 96,770,700 (GRCm39) |
D536E |
probably benign |
Het |
| Chl1 |
C |
T |
6: 103,652,058 (GRCm39) |
R309C |
probably damaging |
Het |
| Dbt |
T |
A |
3: 116,341,847 (GRCm39) |
*483K |
probably null |
Het |
| Ddx46 |
A |
G |
13: 55,785,907 (GRCm39) |
D29G |
unknown |
Het |
| Des |
T |
C |
1: 75,338,985 (GRCm39) |
I222T |
possibly damaging |
Het |
| Dnah8 |
A |
G |
17: 30,891,323 (GRCm39) |
N776S |
probably benign |
Het |
| Fbn1 |
A |
T |
2: 125,145,103 (GRCm39) |
L2712Q |
probably benign |
Het |
| Glb1l3 |
A |
C |
9: 26,729,601 (GRCm39) |
V622G |
probably damaging |
Het |
| Grin2a |
T |
C |
16: 9,487,704 (GRCm39) |
D398G |
possibly damaging |
Het |
| Itgb3 |
T |
C |
11: 104,524,293 (GRCm39) |
M143T |
probably damaging |
Het |
| Lama2 |
G |
A |
10: 27,245,047 (GRCm39) |
R245C |
probably damaging |
Het |
| Lgals9 |
G |
A |
11: 78,875,626 (GRCm39) |
A6V |
probably benign |
Het |
| Lman2l |
A |
T |
1: 36,482,628 (GRCm39) |
Y83N |
probably damaging |
Het |
| Lrp2 |
T |
A |
2: 69,256,383 (GRCm39) |
T4586S |
probably benign |
Het |
| Med10 |
T |
C |
13: 69,963,816 (GRCm39) |
|
probably benign |
Het |
| Myo18b |
A |
C |
5: 112,937,863 (GRCm39) |
L1754R |
probably damaging |
Het |
| Myom2 |
T |
C |
8: 15,172,679 (GRCm39) |
L1202S |
probably damaging |
Het |
| Nav3 |
T |
C |
10: 109,594,878 (GRCm39) |
E1441G |
probably damaging |
Het |
| Nme8 |
T |
C |
13: 19,880,776 (GRCm39) |
E60G |
possibly damaging |
Het |
| Npffr2 |
G |
T |
5: 89,731,020 (GRCm39) |
A317S |
probably damaging |
Het |
| Nrxn2 |
A |
G |
19: 6,540,726 (GRCm39) |
D893G |
probably damaging |
Het |
| Nup153 |
T |
C |
13: 46,858,681 (GRCm39) |
E410G |
possibly damaging |
Het |
| Or11h7 |
T |
C |
14: 50,890,832 (GRCm39) |
I46T |
possibly damaging |
Het |
| Or7e178 |
A |
G |
9: 20,247,207 (GRCm39) |
|
probably null |
Het |
| Pcdhb10 |
A |
G |
18: 37,546,358 (GRCm39) |
D478G |
probably damaging |
Het |
| Phf13 |
T |
C |
4: 152,076,826 (GRCm39) |
D122G |
possibly damaging |
Het |
| Pkhd1 |
A |
T |
1: 20,271,243 (GRCm39) |
H3103Q |
probably benign |
Het |
| Prr11 |
A |
C |
11: 86,987,787 (GRCm39) |
|
probably null |
Het |
| Rac3 |
C |
T |
11: 120,614,092 (GRCm39) |
T118M |
possibly damaging |
Het |
| Rad54b |
T |
C |
4: 11,569,833 (GRCm39) |
S50P |
possibly damaging |
Het |
| Rp1 |
T |
C |
1: 4,419,747 (GRCm39) |
Q455R |
possibly damaging |
Het |
| Semp2l1 |
T |
A |
1: 32,584,841 (GRCm39) |
E356D |
probably benign |
Het |
| Sorl1 |
T |
C |
9: 41,944,858 (GRCm39) |
|
probably benign |
Het |
| Spink5 |
A |
T |
18: 44,147,827 (GRCm39) |
I858F |
possibly damaging |
Het |
| Stxbp5 |
A |
T |
10: 9,742,447 (GRCm39) |
|
probably null |
Het |
| Svep1 |
A |
C |
4: 58,116,532 (GRCm39) |
V906G |
probably benign |
Het |
| Tlr4 |
A |
G |
4: 66,757,990 (GRCm39) |
E261G |
probably damaging |
Het |
| Zfp704 |
C |
T |
3: 9,504,951 (GRCm39) |
|
probably benign |
Het |
| Zfyve9 |
A |
T |
4: 108,580,996 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Ccdc17 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01661:Ccdc17
|
APN |
4 |
116,455,063 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation