Incidental Mutation 'R6761:Ccdc27'
ID |
531693 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc27
|
Ensembl Gene |
ENSMUSG00000039492 |
Gene Name |
coiled-coil domain containing 27 |
Synonyms |
LOC381580 |
MMRRC Submission |
044877-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.049)
|
Stock # |
R6761 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
154111096-154127134 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 154122155 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 241
(G241D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039642
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047207]
|
AlphaFold |
Q3V036 |
Predicted Effect |
unknown
Transcript: ENSMUST00000047207
AA Change: G241D
|
SMART Domains |
Protein: ENSMUSP00000039642 Gene: ENSMUSG00000039492 AA Change: G241D
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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.5%
|
Validation Efficiency |
97% (34/35) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2300002M23Rik |
T |
C |
17: 35,878,845 (GRCm39) |
V61A |
probably benign |
Het |
Actr3b |
C |
T |
5: 26,030,137 (GRCm39) |
S67F |
probably damaging |
Het |
Ap3m1 |
T |
C |
14: 21,088,096 (GRCm39) |
M107V |
probably benign |
Het |
Cit |
T |
G |
5: 116,046,734 (GRCm39) |
D382E |
probably damaging |
Het |
Clec3b |
G |
T |
9: 122,986,004 (GRCm39) |
G134V |
probably damaging |
Het |
Cntnap2 |
T |
A |
6: 47,026,307 (GRCm39) |
H44Q |
probably benign |
Het |
Dst |
T |
C |
1: 34,253,631 (GRCm39) |
S4300P |
probably damaging |
Het |
Ebna1bp2 |
C |
T |
4: 118,480,558 (GRCm39) |
R134* |
probably null |
Het |
Efcab14 |
T |
C |
4: 115,596,024 (GRCm39) |
S57P |
probably damaging |
Het |
Exosc2 |
T |
C |
2: 31,560,875 (GRCm39) |
|
probably null |
Het |
Hfm1 |
T |
C |
5: 107,043,145 (GRCm39) |
T630A |
probably damaging |
Het |
Hkdc1 |
A |
T |
10: 62,244,477 (GRCm39) |
I203N |
possibly damaging |
Het |
Hltf |
T |
A |
3: 20,137,996 (GRCm39) |
|
probably null |
Het |
Igkv3-2 |
G |
T |
6: 70,675,501 (GRCm39) |
|
probably benign |
Het |
Mslnl |
A |
G |
17: 25,965,047 (GRCm39) |
D471G |
probably damaging |
Het |
Msmo1 |
A |
G |
8: 65,172,061 (GRCm39) |
Y281H |
probably benign |
Het |
Nid1 |
A |
G |
13: 13,656,620 (GRCm39) |
T584A |
probably benign |
Het |
Olfr908 |
A |
G |
9: 38,427,561 (GRCm39) |
T78A |
probably damaging |
Het |
Or52a24 |
C |
T |
7: 103,381,691 (GRCm39) |
A186V |
probably damaging |
Het |
Otoa |
G |
A |
7: 120,721,173 (GRCm39) |
G396D |
probably damaging |
Het |
Prss45 |
G |
T |
9: 110,669,487 (GRCm39) |
A197S |
probably damaging |
Het |
Prxl2a |
T |
A |
14: 40,716,578 (GRCm39) |
H198L |
probably damaging |
Het |
Rpap2 |
T |
A |
5: 107,768,104 (GRCm39) |
I314N |
probably benign |
Het |
Sash1 |
A |
G |
10: 8,620,286 (GRCm39) |
M458T |
probably damaging |
Het |
Slc44a5 |
A |
G |
3: 153,945,714 (GRCm39) |
|
probably null |
Het |
Sorbs2 |
T |
C |
8: 46,225,651 (GRCm39) |
S254P |
probably damaging |
Het |
Sycp2 |
T |
C |
2: 178,016,144 (GRCm39) |
|
probably null |
Het |
Tedc1 |
A |
G |
12: 113,125,334 (GRCm39) |
D252G |
probably damaging |
Het |
Uty |
T |
C |
Y: 1,186,790 (GRCm39) |
H145R |
probably damaging |
Homo |
Vmn1r9 |
A |
G |
6: 57,048,291 (GRCm39) |
Y122C |
probably benign |
Het |
Wdfy4 |
T |
A |
14: 32,817,908 (GRCm39) |
N1491Y |
possibly damaging |
Het |
Wdr37 |
T |
C |
13: 8,899,684 (GRCm39) |
T140A |
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 |
|
R4254:Ccdc27
|
UTSW |
4 |
154,123,976 (GRCm39) |
missense |
unknown |
|
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 |
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'- CATCAAGAGTCCATTCCTGACC -3'
(R):5'- TCAAGTACTTTGCTGGCTGAG -3'
Sequencing Primer
(F):5'- AAGAGTCCATTCCTGACCATCTGG -3'
(R):5'- AGAACTTGGTCTTGGACACC -3'
|
Posted On |
2018-08-29 |