Incidental Mutation 'R9757:Ccdc191'
ID |
732815 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc191
|
Ensembl Gene |
ENSMUSG00000022701 |
Gene Name |
coiled-coil domain containing 191 |
Synonyms |
2610015P09Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.201)
|
Stock # |
R9757 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
43710172-43784677 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 43762170 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 20
(T20I)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000132859]
[ENSMUST00000178400]
|
AlphaFold |
J3QQ27 |
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000113814 Gene: ENSMUSG00000022701 AA Change: T20I
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
|
SMART Domains |
Protein: ENSMUSP00000116078 Gene: ENSMUSG00000022701
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
|
SMART Domains |
Protein: ENSMUSP00000137597 Gene: ENSMUSG00000022701
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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrl3 |
T |
C |
5: 81,613,086 (GRCm39) |
V105A |
probably benign |
Het |
Agrn |
C |
A |
4: 156,261,235 (GRCm39) |
V621L |
probably benign |
Het |
Anapc1 |
A |
G |
2: 128,517,676 (GRCm39) |
S323P |
probably damaging |
Het |
Anxa6 |
T |
A |
11: 54,885,182 (GRCm39) |
K456* |
probably null |
Het |
C7 |
G |
T |
15: 5,075,134 (GRCm39) |
T186K |
probably damaging |
Het |
Cacna1b |
T |
C |
2: 24,609,113 (GRCm39) |
E396G |
probably damaging |
Het |
Ces1b |
G |
T |
8: 93,806,501 (GRCm39) |
P15Q |
probably benign |
Het |
Dnah14 |
G |
T |
1: 181,513,349 (GRCm39) |
A1901S |
probably benign |
Het |
Dock3 |
T |
C |
9: 106,901,035 (GRCm39) |
H310R |
possibly damaging |
Het |
Eif2ak4 |
T |
G |
2: 118,269,398 (GRCm39) |
S23R |
probably benign |
Het |
Gli2 |
A |
G |
1: 118,773,652 (GRCm39) |
C485R |
probably damaging |
Het |
Gm17093 |
T |
A |
14: 44,758,990 (GRCm39) |
W171R |
|
Het |
Ing2 |
G |
A |
8: 48,128,075 (GRCm39) |
|
probably benign |
Het |
Itpkb |
T |
C |
1: 180,160,372 (GRCm39) |
I166T |
probably benign |
Het |
Kcnj8 |
T |
A |
6: 142,515,805 (GRCm39) |
I101F |
probably benign |
Het |
Krtap6-2 |
C |
T |
16: 89,216,958 (GRCm39) |
C3Y |
unknown |
Het |
Lep |
A |
G |
6: 29,069,083 (GRCm39) |
I45V |
probably benign |
Het |
Lrrk2 |
A |
T |
15: 91,695,229 (GRCm39) |
I2355L |
probably benign |
Het |
Mettl3 |
C |
A |
14: 52,537,361 (GRCm39) |
A174S |
probably benign |
Het |
Mmp23 |
T |
C |
4: 155,735,515 (GRCm39) |
N317S |
probably damaging |
Het |
Mybpc1 |
A |
T |
10: 88,372,257 (GRCm39) |
V777E |
probably damaging |
Het |
Nlrp9b |
T |
A |
7: 19,782,617 (GRCm39) |
C844S |
probably damaging |
Het |
Obscn |
T |
C |
11: 58,892,338 (GRCm39) |
E6823G |
probably benign |
Het |
Or6y1 |
A |
T |
1: 174,276,866 (GRCm39) |
I226F |
probably damaging |
Het |
Pcdhb1 |
A |
T |
18: 37,400,302 (GRCm39) |
Q751L |
probably benign |
Het |
Pdgfrl |
T |
A |
8: 41,379,454 (GRCm39) |
L16Q |
possibly damaging |
Het |
Pdzph1 |
A |
C |
17: 59,281,898 (GRCm39) |
L128* |
probably null |
Het |
Pramel24 |
A |
G |
4: 143,454,992 (GRCm39) |
D430G |
probably benign |
Het |
Prr36 |
A |
T |
8: 4,260,998 (GRCm39) |
S940T |
probably damaging |
Het |
Rad54l2 |
A |
T |
9: 106,595,120 (GRCm39) |
I279N |
probably damaging |
Het |
Rasgrp3 |
A |
T |
17: 75,807,719 (GRCm39) |
T259S |
probably damaging |
Het |
Rrn3 |
T |
A |
16: 13,628,433 (GRCm39) |
I538N |
probably damaging |
Het |
Sdf2l1 |
A |
T |
16: 16,948,398 (GRCm39) |
D213E |
probably benign |
Het |
Sorcs3 |
T |
C |
19: 48,711,363 (GRCm39) |
Y643H |
probably damaging |
Het |
Sval2 |
G |
T |
6: 41,838,774 (GRCm39) |
C4F |
possibly damaging |
Het |
Taldo1 |
A |
G |
7: 140,980,263 (GRCm39) |
E131G |
probably benign |
Het |
Tas2r130 |
T |
C |
6: 131,607,296 (GRCm39) |
I166M |
probably benign |
Het |
Tmem178 |
A |
G |
17: 81,308,289 (GRCm39) |
Y228C |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,612,423 (GRCm39) |
L17188* |
probably null |
Het |
Unc45b |
A |
G |
11: 82,810,558 (GRCm39) |
K273E |
probably damaging |
Het |
Usp32 |
A |
C |
11: 84,968,155 (GRCm39) |
Y169* |
probably null |
Het |
Vmn2r9 |
A |
T |
5: 108,995,908 (GRCm39) |
Y247N |
possibly damaging |
Het |
Zkscan2 |
A |
T |
7: 123,079,310 (GRCm39) |
C882* |
probably null |
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 |
IGL02660:Ccdc191
|
APN |
16 |
43,780,462 (GRCm39) |
missense |
probably benign |
0.11 |
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 |
Z1177:Ccdc191
|
UTSW |
16 |
43,759,485 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGGACTAAAATAGACCTTGTAGC -3'
(R):5'- CAGGGTAGATGCTTTAGCCTC -3'
Sequencing Primer
(F):5'- GACCTTGTAGCTCACAAAATAAACTC -3'
(R):5'- GGTAGATGCTTTAGCCTCTTTTAAAC -3'
|
Posted On |
2022-11-14 |