Incidental Mutation 'R5705:Ccdc17'
ID |
451909 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc17
|
Ensembl Gene |
ENSMUSG00000034035 |
Gene Name |
coiled-coil domain containing 17 |
Synonyms |
1100001F07Rik |
MMRRC Submission |
043330-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
R5705 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
116453927-116457463 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 116454066 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 28
(T28I)
|
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: T28I
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000059848 Gene: ENSMUSG00000034035 AA Change: T28I
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: ENSMUST00000148260
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151441
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142815
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(2) : Targeted, knock-out(1) Gene trapped(1) |
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
T |
C |
10: 79,851,276 (GRCm39) |
V2163A |
probably benign |
Het |
Abcg3 |
G |
A |
5: 105,116,036 (GRCm39) |
A266V |
probably damaging |
Het |
Ago1 |
T |
C |
4: 126,342,587 (GRCm39) |
I519V |
probably benign |
Het |
Arhgap4 |
G |
A |
X: 72,950,423 (GRCm39) |
R43W |
probably damaging |
Het |
Aurkb |
T |
A |
11: 68,939,641 (GRCm39) |
L213I |
possibly damaging |
Het |
Bod1l |
T |
A |
5: 41,974,345 (GRCm39) |
Q2323L |
probably benign |
Het |
Calhm5 |
A |
T |
10: 33,971,989 (GRCm39) |
C149S |
probably damaging |
Het |
Ccdc39 |
T |
C |
3: 33,871,086 (GRCm39) |
E630G |
probably damaging |
Het |
Cnih4 |
A |
G |
1: 180,981,300 (GRCm39) |
I24V |
probably benign |
Het |
Ctse |
C |
A |
1: 131,592,112 (GRCm39) |
T146K |
possibly damaging |
Het |
Ctsr |
A |
G |
13: 61,309,078 (GRCm39) |
F226L |
probably damaging |
Het |
Cyp2a22 |
T |
C |
7: 26,638,640 (GRCm39) |
N49D |
probably benign |
Het |
Defb23 |
C |
T |
2: 152,301,204 (GRCm39) |
A123T |
probably benign |
Het |
Dtx2 |
C |
A |
5: 136,039,149 (GRCm39) |
D69E |
probably damaging |
Het |
Eps8l1 |
T |
C |
7: 4,473,034 (GRCm39) |
V91A |
probably benign |
Het |
Eps8l3 |
C |
A |
3: 107,798,580 (GRCm39) |
Q489K |
probably benign |
Het |
Esyt3 |
A |
G |
9: 99,200,260 (GRCm39) |
S645P |
probably benign |
Het |
Fam161a |
T |
A |
11: 22,978,869 (GRCm39) |
M472K |
unknown |
Het |
Glp2r |
A |
G |
11: 67,600,565 (GRCm39) |
V428A |
probably benign |
Het |
Gnl1 |
G |
A |
17: 36,292,492 (GRCm39) |
V191I |
probably benign |
Het |
Hfm1 |
T |
C |
5: 107,059,319 (GRCm39) |
I234M |
probably benign |
Het |
Hlx |
T |
C |
1: 184,463,062 (GRCm39) |
T197A |
probably benign |
Het |
Hs3st2 |
T |
C |
7: 120,992,305 (GRCm39) |
L85P |
probably damaging |
Het |
Igsf9 |
T |
C |
1: 172,322,338 (GRCm39) |
V511A |
possibly damaging |
Het |
Insyn2b |
A |
G |
11: 34,354,349 (GRCm39) |
Y473C |
probably damaging |
Het |
Kcnma1 |
A |
T |
14: 24,053,839 (GRCm39) |
C54S |
possibly damaging |
Het |
Klhdc4 |
A |
G |
8: 122,531,732 (GRCm39) |
V181A |
probably benign |
Het |
Ldb3 |
T |
C |
14: 34,298,986 (GRCm39) |
M213V |
probably null |
Het |
Mertk |
C |
A |
2: 128,613,321 (GRCm39) |
Q446K |
probably benign |
Het |
Ndufs1 |
A |
G |
1: 63,186,317 (GRCm39) |
V46A |
probably benign |
Het |
Neurod4 |
A |
G |
10: 130,107,271 (GRCm39) |
M1T |
probably null |
Het |
Nlrc5 |
T |
A |
8: 95,202,385 (GRCm39) |
C162S |
probably benign |
Het |
Pald1 |
A |
G |
10: 61,159,076 (GRCm39) |
I785T |
possibly damaging |
Het |
Pcmt1 |
T |
C |
10: 7,513,954 (GRCm39) |
I224M |
possibly damaging |
Het |
Pisd |
C |
T |
5: 32,894,707 (GRCm39) |
R533H |
probably benign |
Het |
Plcxd3 |
C |
A |
15: 4,546,676 (GRCm39) |
Q227K |
probably benign |
Het |
Polr1b |
A |
T |
2: 128,947,271 (GRCm39) |
K199* |
probably null |
Het |
Ppp1r10 |
T |
C |
17: 36,240,381 (GRCm39) |
V557A |
probably damaging |
Het |
Ralgapa2 |
A |
G |
2: 146,291,193 (GRCm39) |
Y248H |
probably damaging |
Het |
Rsrp1 |
T |
C |
4: 134,651,331 (GRCm39) |
S32P |
unknown |
Het |
Setdb2 |
T |
G |
14: 59,660,814 (GRCm39) |
S110R |
possibly damaging |
Het |
Srcin1 |
A |
G |
11: 97,439,777 (GRCm39) |
C152R |
probably benign |
Het |
Syk |
A |
G |
13: 52,765,083 (GRCm39) |
N70S |
probably benign |
Het |
Tlr4 |
T |
A |
4: 66,752,217 (GRCm39) |
D59E |
probably damaging |
Het |
Tm9sf4 |
T |
A |
2: 153,024,378 (GRCm39) |
I67N |
probably benign |
Het |
Trim30b |
T |
A |
7: 104,006,784 (GRCm39) |
Y24F |
probably damaging |
Het |
Tsga13 |
A |
G |
6: 30,876,951 (GRCm39) |
S189P |
probably damaging |
Het |
Tspan33 |
A |
G |
6: 29,717,232 (GRCm39) |
D210G |
probably benign |
Het |
Use1 |
G |
T |
8: 71,822,331 (GRCm39) |
R278L |
probably damaging |
Het |
Wwc1 |
T |
C |
11: 35,767,423 (GRCm39) |
N403D |
probably damaging |
Het |
Zfp263 |
C |
T |
16: 3,564,318 (GRCm39) |
P203S |
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 |
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 |
|
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'- CTGGCGATTTAGCAGACTTGG -3'
(R):5'- TGTGCTGGCTTCCTGATCAC -3'
Sequencing Primer
(F):5'- CGATTTAGCAGACTTGGTCTATTC -3'
(R):5'- GGCTTCCTGATCACGGCTC -3'
|
Posted On |
2017-01-03 |