Incidental Mutation 'R6369:Ccdc191'
| ID |
512870 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc191
|
| Ensembl Gene |
ENSMUSG00000022701 |
| Gene Name |
coiled-coil domain containing 191 |
| Synonyms |
2610015P09Rik |
| MMRRC Submission |
044519-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.165)
|
| Stock # |
R6369 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
43710172-43784677 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 43735848 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 256
(N256S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137597
(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: N198S
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000116078
Gene: ENSMUSG00000022701
AA Change: N198S
| 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: N256S
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000137597
Gene: ENSMUSG00000022701
AA Change: N256S
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
| Validation Efficiency |
98% (54/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afdn |
C |
T |
17: 14,055,605 (GRCm39) |
R571* |
probably null |
Het |
| Asb18 |
A |
T |
1: 89,942,193 (GRCm39) |
I36N |
probably damaging |
Het |
| Ascc3 |
G |
A |
10: 50,576,081 (GRCm39) |
G779S |
probably damaging |
Het |
| Atl2 |
T |
C |
17: 80,161,984 (GRCm39) |
Q205R |
probably damaging |
Het |
| Axdnd1 |
A |
G |
1: 156,220,315 (GRCm39) |
I235T |
probably damaging |
Het |
| Bri3bp |
A |
G |
5: 125,531,765 (GRCm39) |
N237S |
probably damaging |
Het |
| Cchcr1 |
T |
C |
17: 35,839,073 (GRCm39) |
I474T |
probably damaging |
Het |
| Cd209c |
T |
C |
8: 3,994,984 (GRCm39) |
Y60C |
probably damaging |
Het |
| Cd300c |
C |
A |
11: 114,848,381 (GRCm39) |
D171Y |
probably damaging |
Het |
| Crb1 |
C |
T |
1: 139,165,200 (GRCm39) |
V975M |
probably damaging |
Het |
| Csmd1 |
C |
T |
8: 17,585,020 (GRCm39) |
|
probably benign |
Het |
| Ctnna2 |
A |
G |
6: 76,957,678 (GRCm39) |
S524P |
possibly damaging |
Het |
| Eno1 |
T |
C |
4: 150,324,025 (GRCm39) |
|
probably null |
Het |
| Ero1a |
T |
C |
14: 45,537,415 (GRCm39) |
I170M |
probably damaging |
Het |
| Fam186a |
A |
G |
15: 99,845,212 (GRCm39) |
M344T |
unknown |
Het |
| Frem1 |
A |
T |
4: 82,832,029 (GRCm39) |
|
probably null |
Het |
| Gjb5 |
G |
T |
4: 127,249,723 (GRCm39) |
D140E |
possibly damaging |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Hk2 |
G |
T |
6: 82,713,734 (GRCm39) |
S449R |
probably damaging |
Het |
| Hs3st3a1 |
A |
T |
11: 64,411,427 (GRCm39) |
I322F |
probably benign |
Het |
| Itga1 |
T |
C |
13: 115,102,196 (GRCm39) |
I1145V |
probably damaging |
Het |
| Kcp |
A |
G |
6: 29,484,693 (GRCm39) |
L1295S |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,304,355 (GRCm39) |
D49G |
possibly damaging |
Het |
| Mef2b |
T |
A |
8: 70,618,209 (GRCm39) |
D96E |
probably benign |
Het |
| Megf10 |
A |
T |
18: 57,394,259 (GRCm39) |
D461V |
probably benign |
Het |
| Myom1 |
T |
C |
17: 71,408,071 (GRCm39) |
S1104P |
probably damaging |
Het |
| Nab1 |
A |
G |
1: 52,529,381 (GRCm39) |
L172P |
probably damaging |
Het |
| Or2g1 |
T |
G |
17: 38,106,387 (GRCm39) |
D17E |
probably benign |
Het |
| Pate1 |
A |
G |
9: 35,598,324 (GRCm39) |
V18A |
probably benign |
Het |
| Pink1 |
T |
C |
4: 138,048,045 (GRCm39) |
|
probably null |
Het |
| Pnpla1 |
T |
A |
17: 29,097,455 (GRCm39) |
I207N |
probably damaging |
Het |
| Ppp1r12b |
T |
C |
1: 134,814,280 (GRCm39) |
E341G |
possibly damaging |
Het |
| Ppp1r21 |
C |
A |
17: 88,889,840 (GRCm39) |
|
probably null |
Het |
| Rad52 |
A |
G |
6: 119,891,168 (GRCm39) |
E76G |
unknown |
Het |
| Rad54l |
A |
G |
4: 115,968,386 (GRCm39) |
|
probably null |
Het |
| Rasgrf2 |
T |
C |
13: 92,267,954 (GRCm39) |
M17V |
probably benign |
Het |
| Rbm42 |
A |
G |
7: 30,340,738 (GRCm39) |
M411T |
unknown |
Het |
| Reln |
A |
G |
5: 22,256,359 (GRCm39) |
I495T |
probably benign |
Het |
| Rnf224 |
A |
G |
2: 25,125,954 (GRCm39) |
F133S |
probably damaging |
Het |
| Rrm1 |
C |
A |
7: 102,095,909 (GRCm39) |
H87Q |
probably damaging |
Het |
| Sec14l2 |
T |
C |
11: 4,053,962 (GRCm39) |
D235G |
possibly damaging |
Het |
| Serpinb3d |
G |
T |
1: 107,008,483 (GRCm39) |
N127K |
probably benign |
Het |
| Skint7 |
A |
T |
4: 111,837,490 (GRCm39) |
E89D |
probably benign |
Het |
| Slc22a5 |
T |
G |
11: 53,782,196 (GRCm39) |
N57T |
probably damaging |
Het |
| Smarcd3 |
A |
T |
5: 24,799,982 (GRCm39) |
F263I |
probably damaging |
Het |
| Sncaip |
A |
G |
18: 53,001,676 (GRCm39) |
I66V |
probably damaging |
Het |
| Syngr1 |
A |
C |
15: 79,999,791 (GRCm39) |
|
probably benign |
Het |
| Tbc1d2 |
A |
G |
4: 46,614,420 (GRCm39) |
Y554H |
probably benign |
Het |
| Tmem198 |
T |
C |
1: 75,456,387 (GRCm39) |
V44A |
probably benign |
Het |
| Trappc11 |
T |
C |
8: 47,965,320 (GRCm39) |
|
probably null |
Het |
| Uox |
C |
T |
3: 146,330,332 (GRCm39) |
R163* |
probably null |
Het |
| Vmn2r111 |
C |
T |
17: 22,767,583 (GRCm39) |
C638Y |
probably damaging |
Het |
| Washc4 |
A |
G |
10: 83,410,308 (GRCm39) |
Y632C |
probably damaging |
Het |
| Zfp212 |
T |
C |
6: 47,907,831 (GRCm39) |
V270A |
probably benign |
Het |
| Zfp92 |
G |
A |
X: 72,465,574 (GRCm39) |
R189H |
possibly damaging |
Homo |
|
| 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 |
|
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'- ATTAAAGCACCTACTGGGCTG -3'
(R):5'- CATCTCTGATGGAATGTCCTGTC -3'
Sequencing Primer
(F):5'- CACCTACTGGGCTGTTTGTCAAAG -3'
(R):5'- GTCATTCATGCTACAGGATGC -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation