Incidental Mutation 'R0907:Ccdc191'
| ID |
83370 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc191
|
| Ensembl Gene |
ENSMUSG00000022701 |
| Gene Name |
coiled-coil domain containing 191 |
| Synonyms |
2610015P09Rik |
| MMRRC Submission |
039065-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.165)
|
| Stock # |
R0907 (G1)
|
| Quality Score |
217 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
43710172-43784677 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 43735901 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 216
(V216I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116078
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000122014]
[ENSMUST00000132859]
[ENSMUST00000178400]
|
| AlphaFold |
J3QQ27 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122014
|
| SMART Domains |
Protein: ENSMUSP00000112569
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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132859
AA Change: V216I
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000116078
Gene: ENSMUSG00000022701
AA Change: V216I
| 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: ENSMUST00000146343
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178400
AA Change: V274I
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000137597
Gene: ENSMUSG00000022701
AA Change: V274I
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
100% (34/34) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abl2 |
G |
A |
1: 156,457,429 (GRCm39) |
V225M |
probably damaging |
Het |
| Afmid |
T |
A |
11: 117,726,416 (GRCm39) |
|
probably benign |
Het |
| Cep112 |
C |
A |
11: 108,461,258 (GRCm39) |
|
probably benign |
Het |
| Dcbld1 |
T |
C |
10: 52,137,910 (GRCm39) |
V58A |
possibly damaging |
Het |
| Dop1b |
A |
T |
16: 93,598,481 (GRCm39) |
H1882L |
probably damaging |
Het |
| Fat1 |
A |
G |
8: 45,479,635 (GRCm39) |
I2894V |
probably benign |
Het |
| Focad |
T |
C |
4: 88,196,498 (GRCm39) |
|
probably null |
Het |
| Gm45713 |
G |
A |
7: 44,781,788 (GRCm39) |
T203M |
possibly damaging |
Het |
| Gstm1 |
T |
C |
3: 107,924,696 (GRCm39) |
Y28C |
probably damaging |
Het |
| Gucy1a1 |
T |
C |
3: 82,018,498 (GRCm39) |
D113G |
probably benign |
Het |
| Hat1 |
G |
T |
2: 71,250,961 (GRCm39) |
E170* |
probably null |
Het |
| Herc1 |
C |
A |
9: 66,340,710 (GRCm39) |
F1686L |
possibly damaging |
Het |
| Iffo1 |
A |
G |
6: 125,130,124 (GRCm39) |
E270G |
probably null |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Lrp3 |
A |
T |
7: 34,902,718 (GRCm39) |
Y522N |
probably damaging |
Het |
| Lrp6 |
A |
T |
6: 134,484,488 (GRCm39) |
D378E |
probably damaging |
Het |
| Mmrn1 |
A |
G |
6: 60,950,103 (GRCm39) |
N351S |
probably benign |
Het |
| Or1e16 |
A |
T |
11: 73,285,945 (GRCm39) |
L301Q |
probably damaging |
Het |
| Or9q1 |
T |
C |
19: 13,805,220 (GRCm39) |
D180G |
probably damaging |
Het |
| Pcnx3 |
T |
C |
19: 5,721,553 (GRCm39) |
K1082E |
possibly damaging |
Het |
| Pikfyve |
T |
C |
1: 65,241,989 (GRCm39) |
V243A |
possibly damaging |
Het |
| Qdpr |
G |
C |
5: 45,596,728 (GRCm39) |
I145M |
probably benign |
Het |
| Rasgrp3 |
G |
T |
17: 75,816,822 (GRCm39) |
|
probably null |
Het |
| Rd3l |
G |
T |
12: 111,946,574 (GRCm39) |
Y1* |
probably null |
Het |
| Sf3b3 |
A |
G |
8: 111,538,142 (GRCm39) |
|
probably benign |
Het |
| Smn1 |
C |
T |
13: 100,264,404 (GRCm39) |
T45I |
probably damaging |
Het |
| Sprr3 |
A |
T |
3: 92,364,316 (GRCm39) |
I176N |
probably benign |
Het |
| Sv2c |
T |
C |
13: 96,224,763 (GRCm39) |
D182G |
probably damaging |
Het |
| Tnni3k |
A |
T |
3: 154,647,316 (GRCm39) |
V397D |
probably damaging |
Het |
| Trpt1 |
G |
T |
19: 6,976,308 (GRCm39) |
G235V |
possibly damaging |
Het |
| Ttll10 |
A |
T |
4: 156,120,621 (GRCm39) |
C367* |
probably null |
Het |
| Unc5c |
A |
G |
3: 141,494,794 (GRCm39) |
Q369R |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCACCTACTGGGCTGTTTGTCAAAG -3'
(R):5'- GCACTGATGCACTGACCTGAACAC -3'
Sequencing Primer
(F):5'- tttaaaaaaaGTCACCCAACTCTGG -3'
(R):5'- ctctctctctctcctctctctc -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation