Incidental Mutation 'R1253:Ccdc137'
| ID |
151852 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc137
|
| Ensembl Gene |
ENSMUSG00000049957 |
| Gene Name |
coiled-coil domain containing 137 |
| Synonyms |
3110023B02Rik |
| MMRRC Submission |
039320-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1253 (G1)
|
| Quality Score |
201 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
120348947-120355184 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 120349005 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 12
(A12E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062540
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026452]
[ENSMUST00000044007]
[ENSMUST00000058370]
[ENSMUST00000175970]
|
| AlphaFold |
Q8R0K4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026452
|
| SMART Domains |
Protein: ENSMUSP00000026452
Gene: ENSMUSG00000025386
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PDE6_gamma
|
6 |
87 |
6e-51 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044007
|
| SMART Domains |
Protein: ENSMUSP00000036860
Gene: ENSMUSG00000039670
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Oxidored-like
|
131 |
173 |
1e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058370
AA Change: A12E
PolyPhen 2
Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000062540
Gene: ENSMUSG00000049957
AA Change: A12E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
39 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
56 |
N/A |
INTRINSIC |
|
coiled coil region
|
160 |
189 |
N/A |
INTRINSIC |
|
low complexity region
|
219 |
245 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137632
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140308
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141795
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145702
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000175970
AA Change: A12E
|
| SMART Domains |
Protein: ENSMUSP00000134921
Gene: ENSMUSG00000049957
AA Change: A12E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
39 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
56 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000176120
AA Change: A11E
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150400
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176717
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155421
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148849
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 91.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actg2 |
G |
A |
6: 83,499,869 (GRCm39) |
T127I |
probably damaging |
Het |
| Aph1b |
T |
A |
9: 66,697,931 (GRCm39) |
K102* |
probably null |
Het |
| Caskin1 |
A |
G |
17: 24,724,047 (GRCm39) |
K945R |
probably damaging |
Het |
| Cdhr1 |
A |
G |
14: 36,801,582 (GRCm39) |
M787T |
probably benign |
Het |
| Cic |
T |
A |
7: 24,990,373 (GRCm39) |
V1958E |
probably damaging |
Het |
| Col6a6 |
T |
A |
9: 105,651,502 (GRCm39) |
I1170F |
probably null |
Het |
| Cyp2c54 |
T |
A |
19: 40,034,629 (GRCm39) |
Y347F |
probably damaging |
Het |
| Kntc1 |
AGTGT |
AGT |
5: 123,948,925 (GRCm39) |
|
probably null |
Het |
| Large1 |
T |
C |
8: 73,775,050 (GRCm39) |
Y220C |
probably damaging |
Het |
| Macf1 |
A |
T |
4: 123,351,760 (GRCm39) |
D1592E |
probably damaging |
Het |
| Mtus2 |
C |
T |
5: 148,240,380 (GRCm39) |
Q76* |
probably null |
Het |
| Olfm3 |
A |
T |
3: 114,916,418 (GRCm39) |
D450V |
probably damaging |
Het |
| Or1l4b |
T |
A |
2: 37,036,884 (GRCm39) |
V220D |
possibly damaging |
Het |
| Or4k6 |
A |
G |
14: 50,475,581 (GRCm39) |
C254R |
probably damaging |
Het |
| Or5ae1 |
T |
A |
7: 84,565,917 (GRCm39) |
I310K |
probably benign |
Het |
| Ormdl1 |
G |
A |
1: 53,344,681 (GRCm39) |
R81K |
possibly damaging |
Het |
| Pcdhb12 |
G |
A |
18: 37,568,874 (GRCm39) |
V7I |
possibly damaging |
Het |
| Ptprt |
A |
G |
2: 162,120,146 (GRCm39) |
I107T |
probably damaging |
Het |
| Rbm27 |
A |
C |
18: 42,434,839 (GRCm39) |
D301A |
probably damaging |
Het |
| Rexo2 |
A |
T |
9: 48,380,232 (GRCm39) |
I200N |
probably damaging |
Het |
| Rtn4ip1 |
A |
T |
10: 43,786,867 (GRCm39) |
I192L |
probably benign |
Het |
| Serpinb9e |
T |
C |
13: 33,439,102 (GRCm39) |
F176S |
possibly damaging |
Het |
| Sorcs3 |
C |
A |
19: 48,195,175 (GRCm39) |
A186E |
possibly damaging |
Het |
| Spata31 |
A |
G |
13: 65,069,838 (GRCm39) |
Y662C |
probably benign |
Het |
| Sphkap |
G |
A |
1: 83,256,619 (GRCm39) |
P377S |
possibly damaging |
Het |
| Srrt |
T |
C |
5: 137,298,598 (GRCm39) |
K222R |
probably benign |
Het |
| Tas2r129 |
T |
C |
6: 132,928,999 (GRCm39) |
I312T |
probably benign |
Het |
| Thbs4 |
G |
T |
13: 92,913,413 (GRCm39) |
P169Q |
probably benign |
Het |
| Tmtc3 |
T |
C |
10: 100,287,252 (GRCm39) |
M515V |
probably benign |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Vmn2r92 |
T |
A |
17: 18,387,028 (GRCm39) |
N122K |
probably benign |
Het |
|
| Other mutations in Ccdc137 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02423:Ccdc137
|
APN |
11 |
120,350,927 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1829:Ccdc137
|
UTSW |
11 |
120,349,038 (GRCm39) |
missense |
probably benign |
|
|
R2420:Ccdc137
|
UTSW |
11 |
120,353,090 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2421:Ccdc137
|
UTSW |
11 |
120,353,090 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4244:Ccdc137
|
UTSW |
11 |
120,352,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4426:Ccdc137
|
UTSW |
11 |
120,351,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5062:Ccdc137
|
UTSW |
11 |
120,353,341 (GRCm39) |
unclassified |
probably benign |
|
|
R6163:Ccdc137
|
UTSW |
11 |
120,350,927 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6920:Ccdc137
|
UTSW |
11 |
120,351,009 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7455:Ccdc137
|
UTSW |
11 |
120,350,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9430:Ccdc137
|
UTSW |
11 |
120,349,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF020:Ccdc137
|
UTSW |
11 |
120,349,022 (GRCm39) |
missense |
probably benign |
|
|
X0021:Ccdc137
|
UTSW |
11 |
120,353,122 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAGACCTGAAGAAAGCTCTCAGTG -3'
(R):5'- TGGCTCACGAGAAACTGGAGACAC -3'
Sequencing Primer
(F):5'- TTGTGTCCAGCACCAGAG -3'
(R):5'- GGAGACACTCACCTCCGTTC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation