Incidental Mutation 'G5030:Ccdc17'
| ID |
513 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc17
|
| Ensembl Gene |
ENSMUSG00000034035 |
| Gene Name |
coiled-coil domain containing 17 |
| Synonyms |
1100001F07Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
G5030 (G3)
of strain
560
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
116453927-116457463 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 116455699 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 277
(S277T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059848
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030456]
[ENSMUST00000030457]
[ENSMUST00000030460]
[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 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: S277T
PolyPhen 2
Score 0.418 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000059848
Gene: ENSMUSG00000034035
AA Change: S277T
| 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: ENSMUST00000151441
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142815
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146777
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155398
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148260
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
|
| Het Detection Efficiency |
35.6% |
| Validation Efficiency |
87% (206/237) |
| Allele List at MGI |
All alleles(2) : Targeted, knock-out(1) Gene trapped(1) |
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
T |
A |
11: 109,961,165 (GRCm39) |
I585F |
probably damaging |
Het |
| Adam18 |
C |
G |
8: 25,141,872 (GRCm39) |
L232F |
probably benign |
Homo |
| Atp13a4 |
A |
G |
16: 29,274,306 (GRCm39) |
I385T |
probably damaging |
Homo |
| Ccng1 |
A |
G |
11: 40,644,629 (GRCm39) |
|
probably benign |
Het |
| Ces1f |
T |
C |
8: 94,000,847 (GRCm39) |
D99G |
probably benign |
Het |
| Clec16a |
G |
A |
16: 10,389,425 (GRCm39) |
R187Q |
probably damaging |
Homo |
| Cryl1 |
C |
T |
14: 57,579,595 (GRCm39) |
|
probably benign |
Het |
| Cryzl2 |
C |
T |
1: 157,292,580 (GRCm39) |
Q48* |
probably null |
Het |
| Dtx4 |
A |
G |
19: 12,446,943 (GRCm39) |
L583P |
probably benign |
Het |
| Ephx4 |
A |
T |
5: 107,577,693 (GRCm39) |
D339V |
probably damaging |
Het |
| Eri2 |
A |
T |
7: 119,385,601 (GRCm39) |
V300E |
possibly damaging |
Het |
| F3 |
T |
A |
3: 121,518,648 (GRCm39) |
N37K |
probably damaging |
Homo |
| Fpr1 |
A |
T |
17: 18,097,068 (GRCm39) |
L307H |
probably damaging |
Het |
| Fv1 |
T |
A |
4: 147,953,618 (GRCm39) |
N61K |
possibly damaging |
Het |
| Gm5548 |
T |
C |
3: 112,961,512 (GRCm39) |
|
noncoding transcript |
Homo |
| Il1r1 |
A |
G |
1: 40,352,323 (GRCm39) |
K498E |
possibly damaging |
Homo |
| Myh11 |
T |
C |
16: 14,068,443 (GRCm39) |
I192M |
probably damaging |
Homo |
| Nckap5 |
T |
C |
1: 125,953,591 (GRCm39) |
K923R |
probably damaging |
Het |
| Nmbr |
A |
T |
10: 14,642,747 (GRCm39) |
Y102F |
possibly damaging |
Het |
| Or6c75 |
A |
G |
10: 129,337,406 (GRCm39) |
T218A |
probably benign |
Homo |
| Pde1a |
C |
T |
2: 79,718,180 (GRCm39) |
|
probably benign |
Het |
| Pex6 |
T |
C |
17: 47,026,382 (GRCm39) |
|
probably benign |
Het |
| Rtn2 |
T |
C |
7: 19,027,099 (GRCm39) |
S305P |
probably damaging |
Homo |
| Saal1 |
G |
A |
7: 46,342,207 (GRCm39) |
T412I |
probably damaging |
Homo |
| Slc46a2 |
A |
T |
4: 59,913,867 (GRCm39) |
I352N |
probably damaging |
Het |
| Trim37 |
A |
T |
11: 87,033,967 (GRCm39) |
H99L |
probably damaging |
Het |
| Tubgcp4 |
C |
T |
2: 121,014,815 (GRCm39) |
R242C |
probably damaging |
Het |
| Twf2 |
C |
A |
9: 106,084,141 (GRCm39) |
L27I |
possibly damaging |
Het |
| Usp40 |
A |
T |
1: 87,921,941 (GRCm39) |
H307Q |
probably damaging |
Het |
| Zfhx3 |
T |
G |
8: 109,678,091 (GRCm39) |
V3047G |
possibly damaging |
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 |
|
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 |
|
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 |
|
| Nature of Mutation |
 DNA sequencing using the SOLiD technique identified a T to A transversion at position 886 of the Ccdc17 transcript in exon 8 of 13 total exons. Multiple transcripts of the Ccdc17 gene are displayed on Ensembl and Vega. The mutated nucleotide causes a serine to threonine substitution at amino acid 277 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
|
| Protein Function and Prediction |
The Ccdc17 gene encodes 565 amino acid protein that contains two coiled coil domains at amino acids 97-160 and 219-271 (Uniprot Q8CE13). The function of this protein is unknown.
The S277T change is predicted to be probably benign by the PolyPhen program (see report). |
| Posted On |
2010-10-26 |
Incidental Mutation