Incidental Mutation 'R7407:Ccdc186'
| ID |
574821 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc186
|
| Ensembl Gene |
ENSMUSG00000035173 |
| Gene Name |
coiled-coil domain containing 186 |
| Synonyms |
1810028B20Rik, A630007B06Rik, Otg1 |
| MMRRC Submission |
045488-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7407 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
56775913-56810622 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 56801817 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 100
(N100S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075454
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076085]
[ENSMUST00000118592]
|
| AlphaFold |
Q8C9S4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076085
AA Change: N100S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000075454
Gene: ENSMUSG00000035173
AA Change: N100S
| 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: N100S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000113457
Gene: ENSMUSG00000035173
AA Change: N100S
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933405O20Rik |
A |
G |
7: 50,249,626 (GRCm39) |
N220S |
probably damaging |
Het |
| Abcb8 |
T |
C |
5: 24,605,674 (GRCm39) |
V186A |
probably benign |
Het |
| Actbl2 |
A |
T |
13: 111,392,752 (GRCm39) |
E362D |
probably damaging |
Het |
| Adamts17 |
C |
A |
7: 66,697,304 (GRCm39) |
Y28* |
probably null |
Het |
| Agtr1b |
T |
C |
3: 20,369,895 (GRCm39) |
D237G |
possibly damaging |
Het |
| Amer2 |
A |
G |
14: 60,616,291 (GRCm39) |
D162G |
probably damaging |
Het |
| Ankub1 |
T |
C |
3: 57,572,624 (GRCm39) |
E366G |
probably benign |
Het |
| Ap5z1 |
A |
G |
5: 142,452,330 (GRCm39) |
I88V |
probably benign |
Het |
| Cldn19 |
A |
G |
4: 119,112,882 (GRCm39) |
D38G |
probably damaging |
Het |
| Crat |
C |
T |
2: 30,294,577 (GRCm39) |
R497Q |
probably benign |
Het |
| Deaf1 |
G |
A |
7: 140,877,492 (GRCm39) |
A545V |
possibly damaging |
Het |
| Dicer1 |
G |
T |
12: 104,688,610 (GRCm39) |
Y322* |
probably null |
Het |
| Dnajb7 |
G |
T |
15: 81,291,827 (GRCm39) |
T170K |
possibly damaging |
Het |
| Flrt2 |
A |
T |
12: 95,746,074 (GRCm39) |
E137D |
probably damaging |
Het |
| Galnt12 |
T |
C |
4: 47,120,362 (GRCm39) |
F482L |
probably damaging |
Het |
| Gm32742 |
A |
G |
9: 51,067,974 (GRCm39) |
V336A |
probably damaging |
Het |
| Gpatch8 |
G |
A |
11: 102,370,656 (GRCm39) |
R961W |
unknown |
Het |
| Hcn4 |
A |
G |
9: 58,766,653 (GRCm39) |
E738G |
unknown |
Het |
| Kdelr3 |
A |
G |
15: 79,409,039 (GRCm39) |
Y76C |
probably damaging |
Het |
| Krt77 |
T |
C |
15: 101,768,530 (GRCm39) |
S494G |
unknown |
Het |
| Letmd1 |
G |
T |
15: 100,367,119 (GRCm39) |
A39S |
probably benign |
Het |
| Lrrc7 |
G |
A |
3: 157,840,878 (GRCm39) |
R1387W |
probably damaging |
Het |
| Meltf |
T |
C |
16: 31,713,553 (GRCm39) |
Y599H |
probably damaging |
Het |
| Mybpc1 |
T |
A |
10: 88,385,209 (GRCm39) |
I477L |
probably damaging |
Het |
| Nf1 |
A |
G |
11: 79,338,969 (GRCm39) |
D1174G |
probably damaging |
Het |
| Or2t6 |
T |
A |
14: 14,175,402 (GRCm38) |
I227L |
probably benign |
Het |
| Or8b44 |
T |
A |
9: 38,410,800 (GRCm39) |
Y278* |
probably null |
Het |
| Palld |
G |
T |
8: 61,968,975 (GRCm39) |
S1283* |
probably null |
Het |
| Pcmtd2 |
T |
C |
2: 181,488,398 (GRCm39) |
V183A |
possibly damaging |
Het |
| Pcsk5 |
T |
A |
19: 17,652,880 (GRCm39) |
I269F |
probably damaging |
Het |
| Pkd1 |
T |
C |
17: 24,813,568 (GRCm39) |
L4036P |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,458,407 (GRCm39) |
N4151S |
possibly damaging |
Het |
| Rcor3 |
C |
T |
1: 191,785,972 (GRCm39) |
S422N |
probably benign |
Het |
| Rhag |
A |
G |
17: 41,142,225 (GRCm39) |
I223V |
possibly damaging |
Het |
| Ssbp4 |
A |
G |
8: 71,051,672 (GRCm39) |
Y231H |
probably damaging |
Het |
| Syce1l |
C |
T |
8: 114,381,770 (GRCm39) |
Q237* |
probably null |
Het |
| Tenm4 |
T |
C |
7: 96,423,194 (GRCm39) |
V663A |
possibly damaging |
Het |
| Timd6 |
A |
G |
11: 46,468,217 (GRCm39) |
Y97C |
probably damaging |
Het |
| Trim6 |
T |
C |
7: 103,875,108 (GRCm39) |
I115T |
probably damaging |
Het |
| Vinac1 |
A |
G |
2: 128,880,729 (GRCm39) |
I399T |
|
Het |
| Vmn1r25 |
T |
A |
6: 57,956,044 (GRCm39) |
T82S |
possibly damaging |
Het |
| Vmn2r28 |
A |
G |
7: 5,484,308 (GRCm39) |
S631P |
probably damaging |
Het |
| Xpo1 |
T |
A |
11: 23,235,823 (GRCm39) |
V637E |
probably damaging |
Het |
| Xpo6 |
A |
T |
7: 125,770,224 (GRCm39) |
M62K |
probably damaging |
Het |
| Ypel5 |
A |
G |
17: 73,153,374 (GRCm39) |
N26S |
possibly damaging |
Het |
| Zbtb24 |
C |
A |
10: 41,340,775 (GRCm39) |
Q624K |
possibly damaging |
Het |
| Zfp629 |
T |
C |
7: 127,209,415 (GRCm39) |
D798G |
probably benign |
Het |
| Zfp687 |
C |
T |
3: 94,914,841 (GRCm39) |
R1220H |
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 |
|
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 |
|
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'- GCTGAAACAGTCTTCATCTCGG -3'
(R):5'- GGATGACTCGTGCATCTCAG -3'
Sequencing Primer
(F):5'- ACAGTCTTCATCTCGGAAATGAG -3'
(R):5'- CATCTCAGTTTCTGGTGACGAAAGC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation