Incidental Mutation 'IGL02473:Ccdc191'
| ID |
294831 |
| 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 # |
IGL02473
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
43710172-43784677 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 43777257 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 714
(V714A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137597
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000132859]
[ENSMUST00000178400]
|
| AlphaFold |
J3QQ27 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000122440
AA Change: V299A
|
| SMART Domains |
Protein: ENSMUSP00000113814
Gene: ENSMUSG00000022701
AA Change: V299A
| 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: V656A
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000116078
Gene: ENSMUSG00000022701
AA Change: V656A
| 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: V714A
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000137597
Gene: ENSMUSG00000022701
AA Change: V714A
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730480H06Rik |
G |
A |
5: 48,545,440 (GRCm39) |
|
probably benign |
Het |
| 9030624G23Rik |
A |
G |
12: 24,094,853 (GRCm39) |
F106S |
probably benign |
Het |
| A930011G23Rik |
T |
C |
5: 99,370,854 (GRCm39) |
Y468C |
probably damaging |
Het |
| Abcd3 |
T |
C |
3: 121,562,893 (GRCm39) |
T515A |
possibly damaging |
Het |
| Acrbp |
A |
G |
6: 125,031,661 (GRCm39) |
T321A |
probably benign |
Het |
| Aldh2 |
T |
C |
5: 121,710,141 (GRCm39) |
Y398C |
probably damaging |
Het |
| Baz2b |
T |
A |
2: 59,790,407 (GRCm39) |
D602V |
probably benign |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cntn2 |
A |
G |
1: 132,446,069 (GRCm39) |
L839P |
probably benign |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Cyp3a16 |
T |
C |
5: 145,377,304 (GRCm39) |
I428V |
possibly damaging |
Het |
| Dnah7b |
A |
T |
1: 46,273,353 (GRCm39) |
T2494S |
probably damaging |
Het |
| Dnaja3 |
T |
A |
16: 4,519,104 (GRCm39) |
Y348* |
probably null |
Het |
| Dnajb3 |
C |
A |
1: 88,133,104 (GRCm39) |
E99D |
probably benign |
Het |
| Igf2bp3 |
A |
G |
6: 49,071,163 (GRCm39) |
F411L |
probably benign |
Het |
| L3mbtl4 |
A |
T |
17: 68,866,772 (GRCm39) |
Y337F |
possibly damaging |
Het |
| Lias |
A |
G |
5: 65,562,745 (GRCm39) |
T258A |
possibly damaging |
Het |
| Lipk |
T |
A |
19: 34,016,548 (GRCm39) |
C254S |
probably damaging |
Het |
| Map4k1 |
T |
C |
7: 28,699,297 (GRCm39) |
L596S |
probably damaging |
Het |
| Mdga2 |
T |
C |
12: 66,597,385 (GRCm39) |
E703G |
possibly damaging |
Het |
| Mreg |
A |
G |
1: 72,201,495 (GRCm39) |
Y166H |
probably damaging |
Het |
| Or2f1b |
A |
G |
6: 42,739,640 (GRCm39) |
Y218C |
probably damaging |
Het |
| Or4b1b |
T |
C |
2: 90,112,040 (GRCm39) |
K293R |
probably null |
Het |
| Pcgf2 |
A |
G |
11: 97,582,747 (GRCm39) |
|
probably benign |
Het |
| Prdm15 |
T |
C |
16: 97,638,805 (GRCm39) |
|
probably null |
Het |
| Rnf111 |
A |
G |
9: 70,348,140 (GRCm39) |
V810A |
probably damaging |
Het |
| Rpl23a-ps1 |
A |
T |
1: 46,020,951 (GRCm39) |
|
noncoding transcript |
Het |
| Smc3 |
C |
A |
19: 53,624,879 (GRCm39) |
A779E |
probably benign |
Het |
| Smtn |
C |
T |
11: 3,482,463 (GRCm39) |
G140D |
probably damaging |
Het |
| Son |
T |
C |
16: 91,455,683 (GRCm39) |
S1477P |
probably damaging |
Het |
| Strn |
T |
C |
17: 78,991,722 (GRCm39) |
D20G |
possibly damaging |
Het |
| Tektl1 |
A |
T |
10: 78,586,428 (GRCm39) |
S208T |
probably benign |
Het |
| Tnxb |
T |
C |
17: 34,936,736 (GRCm39) |
L2798P |
probably damaging |
Het |
| Ttn |
A |
C |
2: 76,775,896 (GRCm39) |
N1715K |
probably damaging |
Het |
| Vps33a |
A |
T |
5: 123,707,634 (GRCm39) |
I111N |
probably damaging |
Het |
| Zfp13 |
C |
T |
17: 23,795,072 (GRCm39) |
A493T |
probably benign |
Het |
| Zscan4d |
A |
T |
7: 10,896,336 (GRCm39) |
C345S |
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 |
|
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 |
|
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 |
Incidental Mutation