Incidental Mutation 'R2319:Ccdc186'
| ID |
245600 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc186
|
| Ensembl Gene |
ENSMUSG00000035173 |
| Gene Name |
coiled-coil domain containing 186 |
| Synonyms |
1810028B20Rik, A630007B06Rik, Otg1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2319 (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 56785999 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 679
(S679P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113457
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076085]
[ENSMUST00000118592]
|
| AlphaFold |
Q8C9S4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000076085
AA Change: S679P
PolyPhen 2
Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000075454
Gene: ENSMUSG00000035173
AA Change: S679P
| 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 |
possibly damaging
Transcript: ENSMUST00000118592
AA Change: S679P
PolyPhen 2
Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000113457
Gene: ENSMUSG00000035173
AA Change: S679P
| 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: ENSMUST00000135666
|
| SMART Domains |
Protein: ENSMUSP00000122539
Gene: ENSMUSG00000035173
| 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: ENSMUST00000140184
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140705
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156708
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
| Atp11a |
T |
A |
8: 12,897,505 (GRCm39) |
H273Q |
probably damaging |
Het |
| Chac2 |
T |
A |
11: 30,936,252 (GRCm39) |
|
probably benign |
Het |
| Col6a5 |
T |
C |
9: 105,814,417 (GRCm39) |
T532A |
unknown |
Het |
| Dsg1c |
A |
T |
18: 20,408,235 (GRCm39) |
Y428F |
probably damaging |
Het |
| F11 |
A |
G |
8: 45,701,675 (GRCm39) |
S353P |
probably damaging |
Het |
| Gm7489 |
A |
T |
15: 53,748,445 (GRCm39) |
|
probably benign |
Het |
| Gnat3 |
T |
G |
5: 18,224,624 (GRCm39) |
D341E |
probably benign |
Het |
| Lrpprc |
G |
A |
17: 85,033,818 (GRCm39) |
P1020S |
probably benign |
Het |
| Niban3 |
T |
C |
8: 72,055,408 (GRCm39) |
F273L |
probably benign |
Het |
| Nlrp4a |
A |
G |
7: 26,149,319 (GRCm39) |
S309G |
probably benign |
Het |
| Pik3cg |
T |
C |
12: 32,226,735 (GRCm39) |
I1051V |
probably damaging |
Het |
| Plod3 |
G |
C |
5: 137,017,000 (GRCm39) |
A50P |
probably benign |
Het |
| Rmnd1 |
A |
G |
10: 4,372,099 (GRCm39) |
V200A |
possibly damaging |
Het |
| Rrbp1 |
T |
C |
2: 143,799,479 (GRCm39) |
N1076S |
probably benign |
Het |
| Rtn4 |
A |
G |
11: 29,657,154 (GRCm39) |
D436G |
probably benign |
Het |
| Spta1 |
A |
G |
1: 174,006,222 (GRCm39) |
|
probably null |
Het |
| Srsf3 |
G |
A |
17: 29,257,520 (GRCm39) |
R88Q |
unknown |
Het |
| Stxbp2 |
T |
C |
8: 3,683,834 (GRCm39) |
I90T |
possibly damaging |
Het |
| Tnr |
T |
A |
1: 159,677,618 (GRCm39) |
M1K |
probably null |
Het |
| Tns3 |
G |
A |
11: 8,491,200 (GRCm39) |
S119L |
probably damaging |
Het |
| Vmn1r2 |
A |
G |
4: 3,172,083 (GRCm39) |
M1V |
probably null |
Het |
| Vpreb3 |
C |
T |
10: 75,779,056 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
R5662:Ccdc186
|
UTSW |
19 |
56,781,920 (GRCm39) |
missense |
probably benign |
|
|
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'- GGCACACACCTGAGGTATG -3'
(R):5'- GGGGTTTGCAGAAGAGTCTC -3'
Sequencing Primer
(F):5'- CACACCTGAGGTATGTGGGG -3'
(R):5'- TGCAGAAGAGTCTCCTCCATTAG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation