Incidental Mutation 'IGL02660:Ccdc191'
ID |
302503 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ccdc191
|
Ensembl Gene |
ENSMUSG00000022701 |
Gene Name |
coiled-coil domain containing 191 |
Synonyms |
2610015P09Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.165)
|
Stock # |
IGL02660
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
43710172-43784677 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 43780462 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 815
(T815A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000137597
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000132859]
[ENSMUST00000178400]
[ENSMUST00000231700]
|
AlphaFold |
J3QQ27 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000122440
AA Change: T400A
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000113814 Gene: ENSMUSG00000022701 AA Change: T400A
Domain | Start | End | E-Value | Type |
coiled coil region
|
114 |
147 |
N/A |
INTRINSIC |
coiled coil region
|
211 |
284 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132859
AA Change: T757A
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000116078 Gene: ENSMUSG00000022701 AA Change: T757A
Domain | Start | End | E-Value | Type |
coiled coil region
|
144 |
183 |
N/A |
INTRINSIC |
coiled coil region
|
217 |
237 |
N/A |
INTRINSIC |
coiled coil region
|
278 |
308 |
N/A |
INTRINSIC |
low complexity region
|
349 |
368 |
N/A |
INTRINSIC |
coiled coil region
|
471 |
504 |
N/A |
INTRINSIC |
coiled coil region
|
568 |
641 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000178400
AA Change: T815A
PolyPhen 2
Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000137597 Gene: ENSMUSG00000022701 AA Change: T815A
Domain | Start | End | E-Value | Type |
coiled coil region
|
202 |
241 |
N/A |
INTRINSIC |
coiled coil region
|
275 |
295 |
N/A |
INTRINSIC |
coiled coil region
|
336 |
366 |
N/A |
INTRINSIC |
low complexity region
|
407 |
426 |
N/A |
INTRINSIC |
coiled coil region
|
529 |
562 |
N/A |
INTRINSIC |
coiled coil region
|
626 |
699 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231700
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6030458C11Rik |
A |
G |
15: 12,810,853 (GRCm39) |
L341P |
probably damaging |
Het |
Abcd3 |
A |
C |
3: 121,577,669 (GRCm39) |
N206K |
probably damaging |
Het |
Adamtsl1 |
A |
G |
4: 86,150,847 (GRCm39) |
D335G |
probably damaging |
Het |
Ankmy1 |
A |
T |
1: 92,823,816 (GRCm39) |
M150K |
probably damaging |
Het |
Ap3b2 |
T |
C |
7: 81,115,446 (GRCm39) |
D680G |
probably benign |
Het |
Asxl3 |
T |
A |
18: 22,657,402 (GRCm39) |
V1804D |
probably damaging |
Het |
Bace2 |
T |
C |
16: 97,216,340 (GRCm39) |
V311A |
probably damaging |
Het |
C2cd4c |
T |
A |
10: 79,449,136 (GRCm39) |
T4S |
probably benign |
Het |
C2cd6 |
T |
C |
1: 59,090,389 (GRCm39) |
Y456C |
probably damaging |
Het |
Cbr1 |
A |
G |
16: 93,406,712 (GRCm39) |
S143G |
probably benign |
Het |
Cenpf |
T |
A |
1: 189,386,979 (GRCm39) |
Q1767L |
probably damaging |
Het |
Col6a5 |
A |
C |
9: 105,814,085 (GRCm39) |
N642K |
unknown |
Het |
Dcaf10 |
G |
A |
4: 45,372,769 (GRCm39) |
R394Q |
possibly damaging |
Het |
Ephb1 |
A |
T |
9: 101,918,291 (GRCm39) |
I406N |
possibly damaging |
Het |
F13a1 |
A |
G |
13: 37,127,868 (GRCm39) |
V370A |
possibly damaging |
Het |
Gm14403 |
A |
T |
2: 177,201,257 (GRCm39) |
H401L |
probably damaging |
Het |
Gp6 |
T |
G |
7: 4,387,997 (GRCm39) |
R157S |
probably benign |
Het |
Gucy2e |
G |
A |
11: 69,122,833 (GRCm39) |
T514I |
probably benign |
Het |
H2ac1 |
T |
C |
13: 24,118,608 (GRCm39) |
V55A |
probably damaging |
Het |
Mok |
A |
G |
12: 110,794,499 (GRCm39) |
I63T |
probably damaging |
Het |
Otop1 |
T |
C |
5: 38,445,349 (GRCm39) |
V169A |
probably damaging |
Het |
Pdzph1 |
T |
A |
17: 59,187,642 (GRCm39) |
T1193S |
probably damaging |
Het |
Plekha7 |
A |
G |
7: 115,756,809 (GRCm39) |
|
probably benign |
Het |
Plekhm1 |
A |
T |
11: 103,264,920 (GRCm39) |
|
probably benign |
Het |
Prex1 |
A |
G |
2: 166,435,787 (GRCm39) |
Y587H |
probably damaging |
Het |
Scaf1 |
C |
A |
7: 44,661,542 (GRCm39) |
|
probably benign |
Het |
Sema3f |
A |
T |
9: 107,561,183 (GRCm39) |
F601Y |
probably benign |
Het |
Shoc2 |
T |
C |
19: 53,976,452 (GRCm39) |
I114T |
probably benign |
Het |
Skint10 |
T |
A |
4: 112,622,227 (GRCm39) |
|
probably benign |
Het |
Slc18b1 |
T |
C |
10: 23,686,850 (GRCm39) |
|
probably benign |
Het |
Slco5a1 |
A |
G |
1: 13,059,860 (GRCm39) |
L287P |
probably damaging |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Syncrip |
G |
T |
9: 88,338,457 (GRCm39) |
R536S |
probably benign |
Het |
Trim5 |
C |
A |
7: 103,915,425 (GRCm39) |
R296L |
probably damaging |
Het |
Vmn2r60 |
G |
T |
7: 41,791,720 (GRCm39) |
E548* |
probably null |
Het |
Wdr26 |
A |
T |
1: 181,026,463 (GRCm39) |
W251R |
probably damaging |
Het |
|
Other mutations in Ccdc191 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01629:Ccdc191
|
APN |
16 |
43,779,663 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL02272:Ccdc191
|
APN |
16 |
43,780,385 (GRCm39) |
missense |
possibly damaging |
0.85 |
IGL02473:Ccdc191
|
APN |
16 |
43,777,257 (GRCm39) |
missense |
probably benign |
0.03 |
LCD18:Ccdc191
|
UTSW |
16 |
43,742,164 (GRCm39) |
intron |
probably benign |
|
R0238:Ccdc191
|
UTSW |
16 |
43,767,859 (GRCm39) |
nonsense |
probably null |
|
R0238:Ccdc191
|
UTSW |
16 |
43,767,859 (GRCm39) |
nonsense |
probably null |
|
R0346:Ccdc191
|
UTSW |
16 |
43,759,315 (GRCm39) |
missense |
probably damaging |
0.99 |
R0590:Ccdc191
|
UTSW |
16 |
43,751,704 (GRCm39) |
nonsense |
probably null |
|
R0907:Ccdc191
|
UTSW |
16 |
43,735,901 (GRCm39) |
missense |
probably benign |
0.03 |
R0930:Ccdc191
|
UTSW |
16 |
43,751,618 (GRCm39) |
missense |
probably damaging |
1.00 |
R1761:Ccdc191
|
UTSW |
16 |
43,763,873 (GRCm39) |
missense |
probably benign |
0.01 |
R2127:Ccdc191
|
UTSW |
16 |
43,728,998 (GRCm39) |
missense |
probably benign |
0.00 |
R2408:Ccdc191
|
UTSW |
16 |
43,751,561 (GRCm39) |
missense |
probably benign |
0.08 |
R2567:Ccdc191
|
UTSW |
16 |
43,764,330 (GRCm39) |
splice site |
probably null |
|
R3104:Ccdc191
|
UTSW |
16 |
43,751,573 (GRCm39) |
missense |
probably damaging |
1.00 |
R3105:Ccdc191
|
UTSW |
16 |
43,751,573 (GRCm39) |
missense |
probably damaging |
1.00 |
R3106:Ccdc191
|
UTSW |
16 |
43,751,573 (GRCm39) |
missense |
probably damaging |
1.00 |
R4319:Ccdc191
|
UTSW |
16 |
43,767,872 (GRCm39) |
missense |
probably damaging |
1.00 |
R4320:Ccdc191
|
UTSW |
16 |
43,767,872 (GRCm39) |
missense |
probably damaging |
1.00 |
R4323:Ccdc191
|
UTSW |
16 |
43,767,872 (GRCm39) |
missense |
probably damaging |
1.00 |
R4324:Ccdc191
|
UTSW |
16 |
43,767,872 (GRCm39) |
missense |
probably damaging |
1.00 |
R4667:Ccdc191
|
UTSW |
16 |
43,751,646 (GRCm39) |
missense |
probably damaging |
1.00 |
R4676:Ccdc191
|
UTSW |
16 |
43,759,536 (GRCm39) |
splice site |
probably benign |
|
R4788:Ccdc191
|
UTSW |
16 |
43,777,185 (GRCm39) |
missense |
probably damaging |
1.00 |
R4976:Ccdc191
|
UTSW |
16 |
43,763,868 (GRCm39) |
missense |
probably benign |
0.17 |
R5557:Ccdc191
|
UTSW |
16 |
43,728,976 (GRCm39) |
missense |
probably damaging |
1.00 |
R6369:Ccdc191
|
UTSW |
16 |
43,735,848 (GRCm39) |
missense |
probably benign |
0.05 |
R7459:Ccdc191
|
UTSW |
16 |
43,767,820 (GRCm39) |
nonsense |
probably null |
|
R7543:Ccdc191
|
UTSW |
16 |
43,718,572 (GRCm39) |
nonsense |
probably null |
|
R7843:Ccdc191
|
UTSW |
16 |
43,779,699 (GRCm39) |
missense |
probably damaging |
1.00 |
R8077:Ccdc191
|
UTSW |
16 |
43,735,968 (GRCm39) |
critical splice donor site |
probably null |
|
R8474:Ccdc191
|
UTSW |
16 |
43,710,262 (GRCm39) |
start gained |
probably benign |
|
R8984:Ccdc191
|
UTSW |
16 |
43,710,581 (GRCm39) |
intron |
probably benign |
|
R8987:Ccdc191
|
UTSW |
16 |
43,751,710 (GRCm39) |
missense |
probably benign |
0.29 |
R9108:Ccdc191
|
UTSW |
16 |
43,718,512 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9222:Ccdc191
|
UTSW |
16 |
43,725,831 (GRCm39) |
missense |
probably damaging |
1.00 |
R9276:Ccdc191
|
UTSW |
16 |
43,764,041 (GRCm39) |
nonsense |
probably null |
|
R9448:Ccdc191
|
UTSW |
16 |
43,759,338 (GRCm39) |
missense |
|
|
R9507:Ccdc191
|
UTSW |
16 |
43,764,192 (GRCm39) |
missense |
probably damaging |
0.99 |
R9757:Ccdc191
|
UTSW |
16 |
43,762,170 (GRCm39) |
missense |
|
|
Z1177:Ccdc191
|
UTSW |
16 |
43,759,485 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
Posted On |
2015-04-16 |