Incidental Mutation 'R4254:Ccdc27'
| ID |
321734 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc27
|
| Ensembl Gene |
ENSMUSG00000039492 |
| Gene Name |
coiled-coil domain containing 27 |
| Synonyms |
LOC381580 |
| MMRRC Submission |
041067-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.049)
|
| Stock # |
R4254 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
154111096-154127134 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 154123976 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 186
(S186A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039642
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047207]
|
| AlphaFold |
Q3V036 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000047207
AA Change: S186A
|
| SMART Domains |
Protein: ENSMUSP00000039642
Gene: ENSMUSG00000039492
AA Change: S186A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
39 |
53 |
N/A |
INTRINSIC |
|
coiled coil region
|
203 |
243 |
N/A |
INTRINSIC |
|
low complexity region
|
305 |
320 |
N/A |
INTRINSIC |
|
low complexity region
|
329 |
358 |
N/A |
INTRINSIC |
|
coiled coil region
|
390 |
575 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000120894
|
| Meta Mutation Damage Score |
0.3608 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
98% (40/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg1 |
T |
G |
8: 95,732,530 (GRCm39) |
|
probably null |
Het |
| Adgrg2 |
T |
G |
X: 159,265,404 (GRCm39) |
S551R |
possibly damaging |
Het |
| Anapc2 |
T |
C |
2: 25,163,357 (GRCm39) |
V198A |
probably benign |
Het |
| Asxl3 |
T |
C |
18: 22,657,423 (GRCm39) |
I1811T |
possibly damaging |
Het |
| Atp5mc3 |
A |
C |
2: 73,740,319 (GRCm39) |
|
probably benign |
Het |
| Ccdc28a |
A |
G |
10: 18,100,683 (GRCm39) |
L48P |
probably damaging |
Het |
| Cdh19 |
C |
T |
1: 110,852,760 (GRCm39) |
A392T |
probably damaging |
Het |
| Cfap65 |
T |
C |
1: 74,942,517 (GRCm39) |
D1679G |
probably benign |
Het |
| Copa |
C |
T |
1: 171,929,811 (GRCm39) |
R293C |
probably damaging |
Het |
| Depdc1a |
A |
G |
3: 159,204,124 (GRCm39) |
R58G |
probably damaging |
Het |
| Dnah5 |
T |
A |
15: 28,438,248 (GRCm39) |
S3960T |
probably benign |
Het |
| Dsg4 |
A |
T |
18: 20,604,595 (GRCm39) |
T1021S |
probably benign |
Het |
| Hrh1 |
T |
A |
6: 114,456,962 (GRCm39) |
M81K |
probably damaging |
Het |
| Ipo11 |
G |
A |
13: 107,029,017 (GRCm39) |
T312I |
probably benign |
Het |
| Itgb2l |
T |
C |
16: 96,231,777 (GRCm39) |
N330D |
probably benign |
Het |
| Itsn1 |
G |
A |
16: 91,615,440 (GRCm39) |
|
probably benign |
Het |
| Kcnb1 |
A |
G |
2: 166,947,651 (GRCm39) |
I399T |
probably damaging |
Het |
| Muc13 |
G |
A |
16: 33,636,221 (GRCm39) |
M568I |
probably benign |
Het |
| Nlrp1a |
A |
C |
11: 71,013,854 (GRCm39) |
Y465* |
probably null |
Het |
| Nwd2 |
G |
A |
5: 63,963,889 (GRCm39) |
V1158I |
possibly damaging |
Het |
| Or2h1b |
A |
G |
17: 37,462,530 (GRCm39) |
I111T |
possibly damaging |
Het |
| Or5d14 |
C |
T |
2: 87,880,123 (GRCm39) |
V282I |
possibly damaging |
Het |
| Or8b101 |
T |
A |
9: 38,020,546 (GRCm39) |
L183H |
probably damaging |
Het |
| Ptprr |
T |
A |
10: 115,998,348 (GRCm39) |
|
probably null |
Het |
| Rasd2 |
G |
A |
8: 75,948,538 (GRCm39) |
E155K |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Serinc3 |
T |
A |
2: 163,478,888 (GRCm39) |
M80L |
probably benign |
Het |
| Sf1 |
T |
C |
19: 6,421,677 (GRCm39) |
V140A |
probably damaging |
Het |
| Slc15a2 |
A |
T |
16: 36,574,852 (GRCm39) |
V519E |
probably benign |
Het |
| Slc16a10 |
A |
G |
10: 39,952,997 (GRCm39) |
Y166H |
probably damaging |
Het |
| Slc38a1 |
T |
C |
15: 96,483,431 (GRCm39) |
D299G |
probably benign |
Het |
| Smim29 |
A |
T |
17: 27,784,696 (GRCm39) |
|
probably null |
Het |
| Tmbim1 |
C |
A |
1: 74,333,090 (GRCm39) |
V92F |
probably damaging |
Het |
| Vsig4 |
C |
A |
X: 95,334,107 (GRCm39) |
R134L |
probably benign |
Het |
|
| Other mutations in Ccdc27 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
PIT4466001:Ccdc27
|
UTSW |
4 |
154,126,184 (GRCm39) |
missense |
unknown |
|
|
PIT4472001:Ccdc27
|
UTSW |
4 |
154,126,184 (GRCm39) |
missense |
unknown |
|
|
R0078:Ccdc27
|
UTSW |
4 |
154,120,195 (GRCm39) |
splice site |
probably benign |
|
|
R0883:Ccdc27
|
UTSW |
4 |
154,120,941 (GRCm39) |
missense |
unknown |
|
|
R1389:Ccdc27
|
UTSW |
4 |
154,126,226 (GRCm39) |
missense |
unknown |
|
|
R1773:Ccdc27
|
UTSW |
4 |
154,126,222 (GRCm39) |
missense |
unknown |
|
|
R1869:Ccdc27
|
UTSW |
4 |
154,111,220 (GRCm39) |
splice site |
probably null |
|
|
R2020:Ccdc27
|
UTSW |
4 |
154,117,770 (GRCm39) |
missense |
probably null |
0.05 |
|
R2070:Ccdc27
|
UTSW |
4 |
154,126,270 (GRCm39) |
missense |
unknown |
|
|
R2131:Ccdc27
|
UTSW |
4 |
154,120,763 (GRCm39) |
small deletion |
probably benign |
|
|
R3825:Ccdc27
|
UTSW |
4 |
154,120,742 (GRCm39) |
missense |
unknown |
|
|
R4183:Ccdc27
|
UTSW |
4 |
154,120,763 (GRCm39) |
small deletion |
probably benign |
|
|
R5932:Ccdc27
|
UTSW |
4 |
154,111,231 (GRCm39) |
missense |
probably benign |
0.22 |
|
R6269:Ccdc27
|
UTSW |
4 |
154,122,179 (GRCm39) |
missense |
unknown |
|
|
R6324:Ccdc27
|
UTSW |
4 |
154,120,648 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6761:Ccdc27
|
UTSW |
4 |
154,122,155 (GRCm39) |
missense |
unknown |
|
|
R7090:Ccdc27
|
UTSW |
4 |
154,112,523 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7163:Ccdc27
|
UTSW |
4 |
154,117,282 (GRCm39) |
missense |
not run |
|
|
R7488:Ccdc27
|
UTSW |
4 |
154,117,424 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7555:Ccdc27
|
UTSW |
4 |
154,126,274 (GRCm39) |
missense |
unknown |
|
|
R7651:Ccdc27
|
UTSW |
4 |
154,112,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7826:Ccdc27
|
UTSW |
4 |
154,123,958 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8250:Ccdc27
|
UTSW |
4 |
154,126,245 (GRCm39) |
missense |
unknown |
|
|
R8815:Ccdc27
|
UTSW |
4 |
154,111,205 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8835:Ccdc27
|
UTSW |
4 |
154,127,023 (GRCm39) |
missense |
unknown |
|
|
R9019:Ccdc27
|
UTSW |
4 |
154,124,014 (GRCm39) |
missense |
unknown |
|
|
R9224:Ccdc27
|
UTSW |
4 |
154,122,174 (GRCm39) |
missense |
unknown |
|
|
R9252:Ccdc27
|
UTSW |
4 |
154,125,507 (GRCm39) |
missense |
unknown |
|
|
R9267:Ccdc27
|
UTSW |
4 |
154,117,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF016:Ccdc27
|
UTSW |
4 |
154,120,567 (GRCm39) |
missense |
probably benign |
0.04 |
|
Z1177:Ccdc27
|
UTSW |
4 |
154,120,928 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTAACAAGTCCCGTGCCAG -3'
(R):5'- AGAATCCAACCCTCTCTGGC -3'
Sequencing Primer
(F):5'- TGCCAGGTTAAAGTACCCTG -3'
(R):5'- GGCCTCTTCTTCCTCCACAGG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation