Incidental Mutation 'R4319:Ccdc191'
| ID |
324142 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc191
|
| Ensembl Gene |
ENSMUSG00000022701 |
| Gene Name |
coiled-coil domain containing 191 |
| Synonyms |
2610015P09Rik |
| MMRRC Submission |
041660-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.165)
|
| Stock # |
R4319 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
43710172-43784677 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 43767872 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 624
(E624G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116078
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000132859]
[ENSMUST00000178400]
|
| AlphaFold |
J3QQ27 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000122440
AA Change: E267G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113814
Gene: ENSMUSG00000022701
AA Change: E267G
| 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 damaging
Transcript: ENSMUST00000132859
AA Change: E624G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116078
Gene: ENSMUSG00000022701
AA Change: E624G
| 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 |
noncoding transcript
Transcript: ENSMUST00000145999
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000178400
AA Change: E682G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000137597
Gene: ENSMUSG00000022701
AA Change: E682G
| 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 |
|
| Meta Mutation Damage Score |
0.1055 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
94% (31/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atxn7l2 |
A |
T |
3: 108,113,148 (GRCm39) |
D218E |
probably damaging |
Het |
| Bahd1 |
C |
T |
2: 118,746,887 (GRCm39) |
P169S |
probably damaging |
Het |
| Cacna1c |
A |
C |
6: 118,631,330 (GRCm39) |
I1148S |
probably damaging |
Het |
| Ccdc178 |
T |
A |
18: 22,166,600 (GRCm39) |
K530* |
probably null |
Het |
| Cep290 |
A |
C |
10: 100,374,909 (GRCm39) |
H1385P |
probably benign |
Het |
| Chrd |
A |
G |
16: 20,555,798 (GRCm39) |
H545R |
probably damaging |
Het |
| Dgkb |
A |
G |
12: 38,488,598 (GRCm39) |
I655V |
probably damaging |
Het |
| Gm2663 |
G |
T |
6: 40,974,530 (GRCm39) |
Q87K |
probably damaging |
Het |
| Itsn1 |
G |
A |
16: 91,615,440 (GRCm39) |
|
probably benign |
Het |
| Kif11 |
T |
C |
19: 37,373,033 (GRCm39) |
V84A |
probably damaging |
Het |
| Klf2 |
A |
G |
8: 73,074,005 (GRCm39) |
T270A |
probably benign |
Het |
| Lemd2 |
A |
G |
17: 27,420,651 (GRCm39) |
M254T |
possibly damaging |
Het |
| Luc7l |
A |
T |
17: 26,496,593 (GRCm39) |
|
probably benign |
Het |
| Mapk11 |
T |
C |
15: 89,030,946 (GRCm39) |
E71G |
probably damaging |
Het |
| Mcoln2 |
G |
A |
3: 145,855,766 (GRCm39) |
|
probably null |
Het |
| Or2y1f |
G |
A |
11: 49,184,503 (GRCm39) |
M118I |
probably damaging |
Het |
| Pira13 |
A |
G |
7: 3,825,754 (GRCm39) |
S372P |
possibly damaging |
Het |
| Pygb |
G |
T |
2: 150,657,534 (GRCm39) |
|
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sox6 |
A |
G |
7: 115,179,798 (GRCm39) |
|
probably null |
Het |
| Spty2d1 |
T |
C |
7: 46,647,883 (GRCm39) |
S349G |
probably damaging |
Het |
| Srbd1 |
A |
T |
17: 86,358,578 (GRCm39) |
V657D |
probably damaging |
Het |
| Tspo2 |
G |
T |
17: 48,756,871 (GRCm39) |
|
probably benign |
Het |
| Ufsp2 |
A |
G |
8: 46,448,664 (GRCm39) |
T422A |
possibly damaging |
Het |
| Vmn2r63 |
A |
G |
7: 42,576,406 (GRCm39) |
F469S |
probably benign |
Het |
| Wdr46 |
A |
G |
17: 34,159,718 (GRCm39) |
T3A |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACTTTGCTGCCTCAGGACC -3'
(R):5'- GTAAGGTCCTATCTTTTCAACTAGC -3'
Sequencing Primer
(F):5'- TGCTGCCTCAGGACCAAAGAC -3'
(R):5'- GCATTTAATAACTTGCTTTCCCAG -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation