Incidental Mutation 'R1354:Ccdc183'
| ID |
156234 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc183
|
| Ensembl Gene |
ENSMUSG00000026940 |
| Gene Name |
coiled-coil domain containing 183 |
| Synonyms |
4921530D09Rik, Cccd183 |
| MMRRC Submission |
039419-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R1354 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
25498647-25507690 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 25502151 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 241
(N241S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028309
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028309]
[ENSMUST00000058137]
|
| AlphaFold |
A2AJB1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028309
AA Change: N241S
PolyPhen 2
Score 0.333 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000028309
Gene: ENSMUSG00000026940
AA Change: N241S
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
118 |
147 |
N/A |
INTRINSIC |
|
low complexity region
|
171 |
183 |
N/A |
INTRINSIC |
|
coiled coil region
|
321 |
406 |
N/A |
INTRINSIC |
|
low complexity region
|
524 |
534 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058137
|
| SMART Domains |
Protein: ENSMUSP00000058746
Gene: ENSMUSG00000015087
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ras
|
45 |
108 |
1.5e-7 |
PFAM |
|
Pfam:Roc
|
45 |
112 |
2.2e-8 |
PFAM |
|
low complexity region
|
232 |
245 |
N/A |
INTRINSIC |
|
low complexity region
|
291 |
325 |
N/A |
INTRINSIC |
|
low complexity region
|
343 |
364 |
N/A |
INTRINSIC |
|
low complexity region
|
378 |
397 |
N/A |
INTRINSIC |
|
low complexity region
|
480 |
492 |
N/A |
INTRINSIC |
|
coiled coil region
|
653 |
669 |
N/A |
INTRINSIC |
|
low complexity region
|
708 |
720 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127642
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129520
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140635
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140785
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146012
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155684
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.9%
- 20x: 92.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atoh1 |
A |
G |
6: 64,706,341 (GRCm39) |
E12G |
possibly damaging |
Het |
| Cmya5 |
G |
A |
13: 93,228,566 (GRCm39) |
T2174I |
possibly damaging |
Het |
| Edem1 |
A |
G |
6: 108,831,277 (GRCm39) |
I579M |
possibly damaging |
Het |
| Gimap9 |
A |
T |
6: 48,654,982 (GRCm39) |
M190L |
probably benign |
Het |
| Glod4 |
A |
T |
11: 76,128,654 (GRCm39) |
|
probably null |
Het |
| Ighv8-6 |
A |
T |
12: 115,129,700 (GRCm39) |
S19T |
probably damaging |
Het |
| Lef1 |
C |
T |
3: 130,988,317 (GRCm39) |
P267S |
probably damaging |
Het |
| Megf11 |
A |
G |
9: 64,560,459 (GRCm39) |
E335G |
probably benign |
Het |
| Muc5ac |
A |
G |
7: 141,361,114 (GRCm39) |
N1475S |
probably damaging |
Het |
| Ndst2 |
C |
A |
14: 20,775,043 (GRCm39) |
R749L |
possibly damaging |
Het |
| Oas3 |
C |
A |
5: 120,908,065 (GRCm39) |
V292L |
possibly damaging |
Het |
| Phactr1 |
A |
T |
13: 43,210,807 (GRCm39) |
I210F |
possibly damaging |
Het |
| Plppr5 |
G |
A |
3: 117,369,496 (GRCm39) |
R51H |
possibly damaging |
Het |
| Ppp1r12b |
G |
A |
1: 134,763,721 (GRCm39) |
T771M |
probably benign |
Het |
| Rasgrf2 |
G |
A |
13: 92,165,174 (GRCm39) |
P331S |
probably damaging |
Het |
| Rtl6 |
C |
T |
15: 84,440,728 (GRCm39) |
V223M |
probably damaging |
Het |
| Tbc1d9 |
A |
C |
8: 83,995,610 (GRCm39) |
|
probably null |
Het |
| Tgm3 |
T |
C |
2: 129,883,818 (GRCm39) |
I492T |
probably benign |
Het |
| Trdv1 |
T |
A |
14: 54,119,375 (GRCm39) |
|
probably benign |
Het |
| Wdr45b |
A |
T |
11: 121,226,256 (GRCm39) |
I191N |
probably damaging |
Het |
|
| Other mutations in Ccdc183 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00858:Ccdc183
|
APN |
2 |
25,499,783 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02177:Ccdc183
|
APN |
2 |
25,502,095 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1547:Ccdc183
|
UTSW |
2 |
25,499,362 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5084:Ccdc183
|
UTSW |
2 |
25,498,802 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5579:Ccdc183
|
UTSW |
2 |
25,505,434 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6188:Ccdc183
|
UTSW |
2 |
25,499,764 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6224:Ccdc183
|
UTSW |
2 |
25,500,594 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R6372:Ccdc183
|
UTSW |
2 |
25,506,176 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6994:Ccdc183
|
UTSW |
2 |
25,507,057 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7041:Ccdc183
|
UTSW |
2 |
25,503,682 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7132:Ccdc183
|
UTSW |
2 |
25,506,542 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7177:Ccdc183
|
UTSW |
2 |
25,506,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7432:Ccdc183
|
UTSW |
2 |
25,499,469 (GRCm39) |
missense |
probably benign |
|
|
R7561:Ccdc183
|
UTSW |
2 |
25,501,529 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8283:Ccdc183
|
UTSW |
2 |
25,502,160 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8781:Ccdc183
|
UTSW |
2 |
25,502,208 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R9623:Ccdc183
|
UTSW |
2 |
25,499,520 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGATTGGAGGGGAAATCCAAGTCC -3'
(R):5'- AAAGCCACAGCATGTGTCAGCC -3'
Sequencing Primer
(F):5'- GGGAAATCCAAGTCCCTCCG -3'
(R):5'- CATGTGTCAGCCAGGAGTC -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation