Incidental Mutation 'R4498:Ccdc17'
ID |
331687 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc17
|
Ensembl Gene |
ENSMUSG00000034035 |
Gene Name |
coiled-coil domain containing 17 |
Synonyms |
1100001F07Rik |
MMRRC Submission |
041751-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.064)
|
Stock # |
R4498 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
116453927-116457463 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
G to T
at 116454438 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102083
(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
|
SMART Domains |
Protein: ENSMUSP00000059848 Gene: ENSMUSG00000034035
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: ENSMUST00000146777
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142815
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148260
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151441
|
Meta Mutation Damage Score |
0.1109 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
Validation Efficiency |
91% (53/58) |
Allele List at MGI |
All alleles(2) : Targeted, knock-out(1) Gene trapped(1) |
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aco2 |
G |
A |
15: 81,779,486 (GRCm39) |
A97T |
probably damaging |
Het |
Acot9 |
T |
A |
X: 154,047,064 (GRCm39) |
L18* |
probably null |
Het |
Arhgap12 |
A |
T |
18: 6,111,774 (GRCm39) |
C69S |
probably damaging |
Het |
Ctnnd2 |
A |
C |
15: 30,620,020 (GRCm39) |
D124A |
probably damaging |
Het |
Cux1 |
T |
C |
5: 136,341,847 (GRCm39) |
N424S |
probably damaging |
Het |
Dhrs7c |
T |
C |
11: 67,706,706 (GRCm39) |
F214S |
possibly damaging |
Het |
Fat2 |
T |
C |
11: 55,160,923 (GRCm39) |
D3269G |
possibly damaging |
Het |
Fhod3 |
T |
A |
18: 25,243,296 (GRCm39) |
|
probably null |
Het |
Glul |
G |
T |
1: 153,782,849 (GRCm39) |
G187* |
probably null |
Het |
Gnmt |
ATTAGGGGATGGTCTTAGGG |
ATTAGGG |
17: 47,036,662 (GRCm39) |
294 |
probably benign |
Het |
H2-Q7 |
A |
T |
17: 35,658,506 (GRCm39) |
Y48F |
probably damaging |
Het |
Hes3 |
T |
C |
4: 152,371,542 (GRCm39) |
T136A |
probably benign |
Het |
Krt40 |
T |
C |
11: 99,433,900 (GRCm39) |
T29A |
possibly damaging |
Het |
Lrrc37a |
C |
A |
11: 103,392,624 (GRCm39) |
D934Y |
probably benign |
Het |
Mctp2 |
T |
A |
7: 71,833,599 (GRCm39) |
D581V |
probably damaging |
Het |
Med27 |
T |
C |
2: 29,361,354 (GRCm39) |
S38P |
probably damaging |
Het |
Mff |
A |
G |
1: 82,719,501 (GRCm39) |
|
probably benign |
Het |
Mmadhc |
T |
C |
2: 50,170,236 (GRCm39) |
K292R |
probably benign |
Het |
Mmp24 |
A |
G |
2: 155,655,908 (GRCm39) |
I449V |
possibly damaging |
Het |
Mthfd1 |
G |
T |
12: 76,361,764 (GRCm39) |
L123F |
probably damaging |
Het |
Mug2 |
T |
A |
6: 122,059,711 (GRCm39) |
L1363Q |
probably damaging |
Het |
Myh4 |
T |
C |
11: 67,142,578 (GRCm39) |
I913T |
probably damaging |
Het |
Myo16 |
T |
A |
8: 10,485,869 (GRCm39) |
N649K |
probably benign |
Het |
Myo7b |
A |
G |
18: 32,147,282 (GRCm39) |
I87T |
probably benign |
Het |
Ndst4 |
A |
G |
3: 125,232,007 (GRCm39) |
D192G |
probably damaging |
Het |
Nup155 |
A |
G |
15: 8,183,157 (GRCm39) |
D1239G |
possibly damaging |
Het |
Or5b21 |
T |
C |
19: 12,840,033 (GRCm39) |
V298A |
probably damaging |
Het |
Or7e173 |
G |
C |
9: 19,939,029 (GRCm39) |
N68K |
possibly damaging |
Het |
Phf10 |
T |
A |
17: 15,165,377 (GRCm39) |
N493I |
probably benign |
Het |
Pramel32 |
A |
T |
4: 88,547,129 (GRCm39) |
|
probably null |
Het |
Prr12 |
T |
C |
7: 44,695,338 (GRCm39) |
E1376G |
unknown |
Het |
Rasa3 |
T |
C |
8: 13,664,587 (GRCm39) |
H75R |
probably benign |
Het |
Rin3 |
G |
A |
12: 102,335,939 (GRCm39) |
V537M |
probably damaging |
Het |
Samd4 |
C |
T |
14: 47,333,566 (GRCm39) |
T272I |
probably damaging |
Het |
Septin5 |
C |
T |
16: 18,442,142 (GRCm39) |
G257D |
probably damaging |
Het |
Serpina6 |
T |
C |
12: 103,620,326 (GRCm39) |
K141R |
probably benign |
Het |
Siglecf |
T |
A |
7: 43,001,700 (GRCm39) |
I170N |
possibly damaging |
Het |
Spopl |
C |
T |
2: 23,407,957 (GRCm39) |
V241M |
probably damaging |
Het |
Stk40 |
G |
A |
4: 126,023,544 (GRCm39) |
|
probably null |
Het |
Syne1 |
A |
G |
10: 4,981,768 (GRCm39) |
S8700P |
probably benign |
Het |
Tbc1d4 |
C |
T |
14: 101,845,772 (GRCm39) |
G42E |
probably damaging |
Het |
Tfap2c |
C |
T |
2: 172,399,102 (GRCm39) |
Q425* |
probably null |
Het |
Tmem255b |
T |
C |
8: 13,505,998 (GRCm39) |
S202P |
probably damaging |
Het |
Traf6 |
T |
C |
2: 101,514,891 (GRCm39) |
S16P |
probably benign |
Het |
Ttc12 |
A |
G |
9: 49,383,705 (GRCm39) |
I66T |
probably damaging |
Het |
Ttc21a |
G |
A |
9: 119,787,885 (GRCm39) |
D818N |
possibly damaging |
Het |
Zfp81 |
A |
T |
17: 33,553,677 (GRCm39) |
I379N |
possibly damaging |
Het |
Zgrf1 |
C |
A |
3: 127,379,749 (GRCm39) |
S211* |
probably null |
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GATCAGGAAGCCAGCACATCTG -3'
(R):5'- TGGAGGCGCCGTTTTAATTC -3'
Sequencing Primer
(F):5'- GCACATCTGCTCTAAAGAGGCTG -3'
(R):5'- CCGTTTTAATTCTGAGGGACAAATGG -3'
|
Posted On |
2015-07-21 |