Incidental Mutation 'R5662:Ccdc186'
ID |
444171 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc186
|
Ensembl Gene |
ENSMUSG00000035173 |
Gene Name |
coiled-coil domain containing 186 |
Synonyms |
1810028B20Rik, A630007B06Rik, Otg1 |
MMRRC Submission |
043305-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5662 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
56775913-56810622 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 56781920 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 753
(I753T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113457
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076085]
[ENSMUST00000118592]
|
AlphaFold |
Q8C9S4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000076085
AA Change: I753T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000075454 Gene: ENSMUSG00000035173 AA Change: I753T
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
7 |
104 |
8.63e-6 |
PROSPERO |
internal_repeat_1
|
119 |
216 |
8.63e-6 |
PROSPERO |
low complexity region
|
252 |
264 |
N/A |
INTRINSIC |
low complexity region
|
426 |
447 |
N/A |
INTRINSIC |
low complexity region
|
527 |
538 |
N/A |
INTRINSIC |
low complexity region
|
619 |
631 |
N/A |
INTRINSIC |
low complexity region
|
641 |
651 |
N/A |
INTRINSIC |
low complexity region
|
656 |
670 |
N/A |
INTRINSIC |
Blast:SPEC
|
671 |
799 |
1e-37 |
BLAST |
coiled coil region
|
874 |
913 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000118592
AA Change: I753T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000113457 Gene: ENSMUSG00000035173 AA Change: I753T
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
7 |
104 |
8.63e-6 |
PROSPERO |
internal_repeat_1
|
119 |
216 |
8.63e-6 |
PROSPERO |
low complexity region
|
252 |
264 |
N/A |
INTRINSIC |
low complexity region
|
426 |
447 |
N/A |
INTRINSIC |
low complexity region
|
527 |
538 |
N/A |
INTRINSIC |
low complexity region
|
619 |
631 |
N/A |
INTRINSIC |
low complexity region
|
641 |
651 |
N/A |
INTRINSIC |
low complexity region
|
656 |
670 |
N/A |
INTRINSIC |
Blast:SPEC
|
671 |
799 |
1e-37 |
BLAST |
coiled coil region
|
874 |
913 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000135666
AA Change: I28T
|
SMART Domains |
Protein: ENSMUSP00000122539 Gene: ENSMUSG00000035173 AA Change: I28T
Domain | Start | End | E-Value | Type |
Blast:SPEC
|
2 |
75 |
2e-15 |
BLAST |
coiled coil region
|
149 |
188 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140705
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156708
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acan |
T |
A |
7: 78,749,855 (GRCm39) |
V1542D |
possibly damaging |
Het |
Acsm4 |
T |
G |
7: 119,294,023 (GRCm39) |
N131K |
possibly damaging |
Het |
Ankrd54 |
A |
G |
15: 78,946,814 (GRCm39) |
S62P |
possibly damaging |
Het |
Cers2 |
C |
T |
3: 95,228,295 (GRCm39) |
R112C |
probably damaging |
Het |
Col6a4 |
C |
G |
9: 105,945,200 (GRCm39) |
R971S |
probably damaging |
Het |
Ctsf |
T |
C |
19: 4,906,606 (GRCm39) |
S178P |
probably damaging |
Het |
Dennd4c |
C |
T |
4: 86,713,525 (GRCm39) |
T492I |
probably benign |
Het |
Dhx8 |
A |
G |
11: 101,657,584 (GRCm39) |
K1212E |
possibly damaging |
Het |
Dnah8 |
A |
G |
17: 30,956,307 (GRCm39) |
T2096A |
probably damaging |
Het |
Ephb4 |
A |
T |
5: 137,370,457 (GRCm39) |
I886F |
probably damaging |
Het |
Eprs1 |
T |
G |
1: 185,126,622 (GRCm39) |
N519K |
possibly damaging |
Het |
Fam3c |
T |
C |
6: 22,355,061 (GRCm39) |
|
probably benign |
Het |
Galnt17 |
G |
A |
5: 131,114,844 (GRCm39) |
R219C |
probably damaging |
Het |
Gm10645 |
A |
G |
8: 83,892,486 (GRCm39) |
|
probably benign |
Het |
Gpr132 |
G |
A |
12: 112,816,416 (GRCm39) |
R137C |
probably damaging |
Het |
Hydin |
T |
G |
8: 111,307,341 (GRCm39) |
S3907A |
probably benign |
Het |
Ighv1-49 |
A |
T |
12: 115,019,027 (GRCm39) |
V56E |
probably damaging |
Het |
Igtp |
A |
G |
11: 58,097,105 (GRCm39) |
D92G |
probably damaging |
Het |
Itga1 |
C |
T |
13: 115,122,707 (GRCm39) |
V750I |
probably benign |
Het |
Katnip |
A |
G |
7: 125,441,875 (GRCm39) |
R595G |
probably benign |
Het |
Kif3c |
T |
A |
12: 3,417,031 (GRCm39) |
Y351N |
probably damaging |
Het |
Klhdc1 |
T |
A |
12: 69,329,939 (GRCm39) |
I356N |
probably benign |
Het |
Lrrc34 |
T |
C |
3: 30,685,473 (GRCm39) |
Y292C |
probably benign |
Het |
Ly75 |
G |
A |
2: 60,182,725 (GRCm39) |
T526M |
probably damaging |
Het |
Mroh4 |
A |
T |
15: 74,497,277 (GRCm39) |
D181E |
possibly damaging |
Het |
Nutm1 |
T |
C |
2: 112,079,645 (GRCm39) |
N757D |
probably benign |
Het |
Or1e25 |
T |
C |
11: 73,494,005 (GRCm39) |
F200L |
probably benign |
Het |
Or1m1 |
A |
G |
9: 18,666,896 (GRCm39) |
F12L |
probably damaging |
Het |
Or6c215 |
T |
C |
10: 129,638,176 (GRCm39) |
T73A |
possibly damaging |
Het |
Or9s18 |
T |
C |
13: 65,300,067 (GRCm39) |
F10L |
possibly damaging |
Het |
Paxbp1 |
G |
A |
16: 90,834,285 (GRCm39) |
T167M |
probably benign |
Het |
Pnpla7 |
A |
G |
2: 24,942,396 (GRCm39) |
D1238G |
probably damaging |
Het |
Pom121l2 |
T |
C |
13: 22,166,358 (GRCm39) |
S210P |
probably benign |
Het |
Ripor3 |
T |
G |
2: 167,835,476 (GRCm39) |
N165T |
probably benign |
Het |
Serpine3 |
T |
G |
14: 62,908,291 (GRCm39) |
S106R |
probably benign |
Het |
Slc25a11 |
G |
A |
11: 70,536,245 (GRCm39) |
R158* |
probably null |
Het |
Slc26a6 |
G |
A |
9: 108,736,538 (GRCm39) |
V506M |
possibly damaging |
Het |
Slc45a2 |
A |
G |
15: 11,022,169 (GRCm39) |
K304E |
probably benign |
Het |
Slc4a4 |
C |
T |
5: 89,176,103 (GRCm39) |
L25F |
probably damaging |
Het |
Smarcb1 |
T |
C |
10: 75,740,404 (GRCm39) |
N267S |
possibly damaging |
Het |
Spink6 |
C |
A |
18: 44,207,481 (GRCm39) |
Q24K |
possibly damaging |
Het |
Srebf2 |
T |
C |
15: 82,079,204 (GRCm39) |
S811P |
probably benign |
Het |
Ssc4d |
A |
G |
5: 135,989,748 (GRCm39) |
*587R |
probably null |
Het |
Sult2a8 |
C |
T |
7: 14,161,765 (GRCm39) |
R27H |
probably benign |
Het |
Sun2 |
C |
T |
15: 79,623,069 (GRCm39) |
A90T |
probably benign |
Het |
Ubr7 |
T |
C |
12: 102,734,526 (GRCm39) |
S267P |
probably benign |
Het |
Wdr55 |
G |
A |
18: 36,893,448 (GRCm39) |
V37M |
possibly damaging |
Het |
Xdh |
C |
T |
17: 74,248,110 (GRCm39) |
G45S |
probably damaging |
Het |
Zfp638 |
T |
A |
6: 83,920,111 (GRCm39) |
S570T |
probably damaging |
Het |
|
Other mutations in Ccdc186 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00708:Ccdc186
|
APN |
19 |
56,801,879 (GRCm39) |
missense |
probably benign |
0.18 |
IGL00976:Ccdc186
|
APN |
19 |
56,785,932 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01146:Ccdc186
|
APN |
19 |
56,797,749 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01316:Ccdc186
|
APN |
19 |
56,801,845 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01627:Ccdc186
|
APN |
19 |
56,780,452 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02325:Ccdc186
|
APN |
19 |
56,801,788 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02755:Ccdc186
|
APN |
19 |
56,801,828 (GRCm39) |
missense |
probably benign |
0.06 |
IGL02899:Ccdc186
|
APN |
19 |
56,781,920 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03408:Ccdc186
|
APN |
19 |
56,787,163 (GRCm39) |
missense |
probably benign |
0.00 |
receding
|
UTSW |
19 |
56,788,561 (GRCm39) |
missense |
probably damaging |
1.00 |
R1256:Ccdc186
|
UTSW |
19 |
56,786,053 (GRCm39) |
missense |
probably benign |
0.20 |
R1728:Ccdc186
|
UTSW |
19 |
56,797,652 (GRCm39) |
missense |
probably benign |
0.04 |
R1729:Ccdc186
|
UTSW |
19 |
56,797,652 (GRCm39) |
missense |
probably benign |
0.04 |
R1784:Ccdc186
|
UTSW |
19 |
56,797,652 (GRCm39) |
missense |
probably benign |
0.04 |
R1813:Ccdc186
|
UTSW |
19 |
56,788,601 (GRCm39) |
missense |
probably benign |
0.03 |
R1909:Ccdc186
|
UTSW |
19 |
56,781,793 (GRCm39) |
missense |
probably damaging |
1.00 |
R2110:Ccdc186
|
UTSW |
19 |
56,788,574 (GRCm39) |
missense |
possibly damaging |
0.80 |
R2319:Ccdc186
|
UTSW |
19 |
56,785,999 (GRCm39) |
missense |
possibly damaging |
0.50 |
R2351:Ccdc186
|
UTSW |
19 |
56,787,129 (GRCm39) |
missense |
possibly damaging |
0.89 |
R2970:Ccdc186
|
UTSW |
19 |
56,795,430 (GRCm39) |
missense |
probably damaging |
1.00 |
R4159:Ccdc186
|
UTSW |
19 |
56,781,924 (GRCm39) |
nonsense |
probably null |
|
R4898:Ccdc186
|
UTSW |
19 |
56,790,432 (GRCm39) |
splice site |
probably null |
|
R4910:Ccdc186
|
UTSW |
19 |
56,787,123 (GRCm39) |
missense |
probably damaging |
0.98 |
R5325:Ccdc186
|
UTSW |
19 |
56,801,613 (GRCm39) |
missense |
probably damaging |
0.99 |
R5338:Ccdc186
|
UTSW |
19 |
56,801,689 (GRCm39) |
missense |
possibly damaging |
0.87 |
R5773:Ccdc186
|
UTSW |
19 |
56,801,919 (GRCm39) |
missense |
probably benign |
0.06 |
R6621:Ccdc186
|
UTSW |
19 |
56,801,919 (GRCm39) |
missense |
probably benign |
0.06 |
R6806:Ccdc186
|
UTSW |
19 |
56,788,561 (GRCm39) |
missense |
probably damaging |
1.00 |
R6908:Ccdc186
|
UTSW |
19 |
56,780,371 (GRCm39) |
critical splice donor site |
probably null |
|
R6977:Ccdc186
|
UTSW |
19 |
56,787,219 (GRCm39) |
missense |
probably benign |
0.05 |
R7108:Ccdc186
|
UTSW |
19 |
56,787,192 (GRCm39) |
missense |
probably damaging |
1.00 |
R7190:Ccdc186
|
UTSW |
19 |
56,780,432 (GRCm39) |
missense |
probably damaging |
1.00 |
R7407:Ccdc186
|
UTSW |
19 |
56,801,817 (GRCm39) |
missense |
probably benign |
0.00 |
R7408:Ccdc186
|
UTSW |
19 |
56,796,610 (GRCm39) |
missense |
probably damaging |
1.00 |
R7437:Ccdc186
|
UTSW |
19 |
56,795,429 (GRCm39) |
missense |
probably damaging |
1.00 |
R8219:Ccdc186
|
UTSW |
19 |
56,781,777 (GRCm39) |
missense |
probably benign |
0.42 |
R8422:Ccdc186
|
UTSW |
19 |
56,801,617 (GRCm39) |
missense |
probably benign |
0.26 |
R8537:Ccdc186
|
UTSW |
19 |
56,798,677 (GRCm39) |
missense |
probably damaging |
1.00 |
R8777:Ccdc186
|
UTSW |
19 |
56,801,793 (GRCm39) |
missense |
probably damaging |
0.98 |
R8777-TAIL:Ccdc186
|
UTSW |
19 |
56,801,793 (GRCm39) |
missense |
probably damaging |
0.98 |
R9510:Ccdc186
|
UTSW |
19 |
56,802,016 (GRCm39) |
missense |
probably benign |
0.00 |
RF014:Ccdc186
|
UTSW |
19 |
56,801,904 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GGCCATGCTACCACAGTAATAC -3'
(R):5'- GTGTAACATAACAGACACTGCTC -3'
Sequencing Primer
(F):5'- TGCTACCACAGTAATACATACTTGG -3'
(R):5'- AGACACTGCTCACTGCTGCTG -3'
|
Posted On |
2016-11-09 |