Incidental Mutation 'R1228:Ccdc181'
| ID |
175022 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc181
|
| Ensembl Gene |
ENSMUSG00000026578 |
| Gene Name |
coiled-coil domain containing 181 |
| Synonyms |
4930455F23Rik |
| MMRRC Submission |
039297-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1228 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
164103154-164115416 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 164113960 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 455
(R455*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027867
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027866]
[ENSMUST00000027867]
[ENSMUST00000120447]
|
| AlphaFold |
Q80ZU5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027866
|
| SMART Domains |
Protein: ENSMUSP00000027866
Gene: ENSMUSG00000026577
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
130 |
175 |
N/A |
INTRINSIC |
|
Pfam:DASH_Hsk3
|
191 |
236 |
2.9e-13 |
PFAM |
|
coiled coil region
|
243 |
276 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000027867
AA Change: R455*
|
| SMART Domains |
Protein: ENSMUSP00000027867
Gene: ENSMUSG00000026578
AA Change: R455*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
116 |
122 |
N/A |
INTRINSIC |
|
coiled coil region
|
334 |
378 |
N/A |
INTRINSIC |
|
low complexity region
|
474 |
485 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120447
|
| SMART Domains |
Protein: ENSMUSP00000113479
Gene: ENSMUSG00000026577
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
123 |
168 |
N/A |
INTRINSIC |
|
Pfam:DASH_Hsk3
|
184 |
230 |
2.6e-18 |
PFAM |
|
coiled coil region
|
236 |
269 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.7%
- 20x: 90.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bag6 |
T |
A |
17: 35,364,309 (GRCm39) |
S863R |
probably damaging |
Het |
| Clvs2 |
T |
C |
10: 33,498,600 (GRCm39) |
N110S |
probably benign |
Het |
| Enpp1 |
T |
A |
10: 24,521,310 (GRCm39) |
I806F |
probably benign |
Het |
| Entrep1 |
A |
G |
19: 23,956,829 (GRCm39) |
S355P |
probably benign |
Het |
| Fli1 |
T |
C |
9: 32,335,139 (GRCm39) |
Y431C |
probably damaging |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Klhl25 |
C |
T |
7: 75,515,868 (GRCm39) |
A258V |
probably benign |
Het |
| Krt13 |
T |
C |
11: 100,012,303 (GRCm39) |
S7G |
probably benign |
Het |
| Pakap |
T |
A |
4: 57,856,909 (GRCm39) |
I787N |
probably damaging |
Het |
| Pappa |
T |
C |
4: 65,258,926 (GRCm39) |
F1558S |
probably damaging |
Het |
| Phc3 |
A |
T |
3: 30,976,404 (GRCm39) |
N721K |
possibly damaging |
Het |
| Plxna4 |
A |
T |
6: 32,201,087 (GRCm39) |
|
probably null |
Het |
| Rabac1 |
T |
C |
7: 24,671,523 (GRCm39) |
|
probably null |
Het |
| Rims1 |
T |
C |
1: 22,511,837 (GRCm39) |
D572G |
probably null |
Het |
| Rpia |
T |
C |
6: 70,768,880 (GRCm39) |
N85S |
probably benign |
Het |
| Sh3gl3 |
A |
G |
7: 81,824,723 (GRCm39) |
M1V |
probably null |
Het |
| Skint6 |
T |
C |
4: 112,711,649 (GRCm39) |
N956S |
probably benign |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Sp110 |
G |
A |
1: 85,519,481 (GRCm39) |
P116S |
probably benign |
Het |
| Spata7 |
T |
C |
12: 98,600,528 (GRCm39) |
L47P |
probably damaging |
Het |
| Tcea2 |
G |
T |
2: 181,326,238 (GRCm39) |
V81F |
probably benign |
Het |
| Ttbk1 |
A |
T |
17: 46,787,638 (GRCm39) |
|
probably null |
Het |
| Vmn2r77 |
G |
A |
7: 86,450,242 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Ccdc181 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01631:Ccdc181
|
APN |
1 |
164,107,713 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL02634:Ccdc181
|
APN |
1 |
164,107,514 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02902:Ccdc181
|
APN |
1 |
164,107,470 (GRCm39) |
missense |
probably benign |
|
|
IGL03201:Ccdc181
|
APN |
1 |
164,108,213 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1371:Ccdc181
|
UTSW |
1 |
164,108,172 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1819:Ccdc181
|
UTSW |
1 |
164,110,047 (GRCm39) |
nonsense |
probably null |
|
|
R2240:Ccdc181
|
UTSW |
1 |
164,107,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3160:Ccdc181
|
UTSW |
1 |
164,107,865 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3162:Ccdc181
|
UTSW |
1 |
164,107,865 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4678:Ccdc181
|
UTSW |
1 |
164,105,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5286:Ccdc181
|
UTSW |
1 |
164,105,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6179:Ccdc181
|
UTSW |
1 |
164,107,487 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6886:Ccdc181
|
UTSW |
1 |
164,107,665 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7517:Ccdc181
|
UTSW |
1 |
164,107,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7528:Ccdc181
|
UTSW |
1 |
164,107,527 (GRCm39) |
missense |
probably benign |
|
|
R9012:Ccdc181
|
UTSW |
1 |
164,110,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCACTTGAGCACGCCCATC -3'
(R):5'- AGGAAGTTCACACAAATGGAATCAACCT -3'
Sequencing Primer
(F):5'- ctctctctctctctctctctctctc -3'
(R):5'- ATGGAATCAACCTTTATTCTCCAACC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation