Incidental Mutation 'R6537:Cwc15'
| ID |
520482 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cwc15
|
| Ensembl Gene |
ENSMUSG00000004096 |
| Gene Name |
CWC15 spliceosome-associated protein |
| Synonyms |
0610040D20Rik, 2900052N06Rik |
| MMRRC Submission |
044663-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.397)
|
| Stock # |
R6537 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
14411913-14421873 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 14413284 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 22
(D22G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149476
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004200]
[ENSMUST00000058796]
[ENSMUST00000115647]
[ENSMUST00000213913]
[ENSMUST00000215143]
|
| AlphaFold |
Q9JHS9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000004200
AA Change: D22G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000004200
Gene: ENSMUSG00000004096
AA Change: D22G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cwf_Cwc_15
|
1 |
229 |
1.5e-79 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058796
|
| SMART Domains |
Protein: ENSMUSP00000061632
Gene: ENSMUSG00000053914
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:JmjN
|
16 |
50 |
3.3e-15 |
PFAM |
|
JmjC
|
143 |
309 |
2.3e-57 |
SMART |
|
low complexity region
|
370 |
383 |
N/A |
INTRINSIC |
|
low complexity region
|
417 |
434 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115647
|
| SMART Domains |
Protein: ENSMUSP00000111311
Gene: ENSMUSG00000053914
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:JmjN
|
16 |
50 |
1.1e-16 |
PFAM |
|
JmjC
|
143 |
309 |
2.3e-57 |
SMART |
|
low complexity region
|
370 |
383 |
N/A |
INTRINSIC |
|
low complexity region
|
417 |
434 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213913
AA Change: D22G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215143
AA Change: D22G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.0927 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (30/30) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anapc4 |
T |
C |
5: 53,000,898 (GRCm39) |
S224P |
probably damaging |
Het |
| Col6a4 |
G |
A |
9: 105,945,153 (GRCm39) |
T987M |
possibly damaging |
Het |
| Cort |
C |
T |
4: 149,211,081 (GRCm39) |
G8E |
probably benign |
Het |
| Ctdp1 |
G |
T |
18: 80,492,766 (GRCm39) |
D576E |
probably benign |
Het |
| Ctsq |
A |
T |
13: 61,183,140 (GRCm39) |
I334N |
probably damaging |
Het |
| Dnmt3l |
G |
A |
10: 77,887,898 (GRCm39) |
G136R |
probably null |
Het |
| Fxyd6 |
A |
G |
9: 45,302,092 (GRCm39) |
I37V |
possibly damaging |
Het |
| Gm10604 |
A |
C |
4: 11,980,221 (GRCm39) |
S28A |
unknown |
Het |
| Gm43302 |
A |
G |
5: 105,438,861 (GRCm39) |
I9T |
possibly damaging |
Het |
| Hmcn2 |
T |
C |
2: 31,305,280 (GRCm39) |
V3151A |
probably benign |
Het |
| Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
| Kyat3 |
A |
G |
3: 142,435,573 (GRCm39) |
T282A |
probably benign |
Het |
| Lrp6 |
T |
C |
6: 134,457,458 (GRCm39) |
E782G |
probably benign |
Het |
| Lrrc3b |
T |
C |
14: 15,357,946 (GRCm38) |
Y220C |
probably damaging |
Het |
| Macf1 |
C |
T |
4: 123,386,518 (GRCm39) |
S1033N |
probably damaging |
Het |
| Mdm1 |
A |
G |
10: 117,994,481 (GRCm39) |
T452A |
probably benign |
Het |
| Nrn1l |
G |
T |
8: 106,621,350 (GRCm39) |
R99L |
probably damaging |
Het |
| Pappa |
T |
A |
4: 65,215,519 (GRCm39) |
I1142N |
probably damaging |
Het |
| Pcsk1 |
T |
C |
13: 75,280,358 (GRCm39) |
F728L |
probably damaging |
Het |
| Ptcd3 |
T |
C |
6: 71,874,094 (GRCm39) |
|
probably null |
Het |
| Siglecf |
C |
T |
7: 43,005,423 (GRCm39) |
T461I |
probably benign |
Het |
| Slc7a8 |
C |
T |
14: 54,972,576 (GRCm39) |
A282T |
probably benign |
Het |
| Srcap |
T |
C |
7: 127,141,392 (GRCm39) |
V1724A |
probably damaging |
Het |
| Tafa2 |
T |
A |
10: 123,429,401 (GRCm39) |
M5K |
possibly damaging |
Het |
| Tek |
A |
G |
4: 94,725,561 (GRCm39) |
Q609R |
probably benign |
Het |
| Trim45 |
C |
T |
3: 100,832,712 (GRCm39) |
A315V |
probably benign |
Het |
| Ttbk1 |
C |
T |
17: 46,781,236 (GRCm39) |
V446M |
probably damaging |
Het |
| Wrap53 |
T |
C |
11: 69,454,694 (GRCm39) |
D225G |
possibly damaging |
Het |
| Znhit6 |
A |
G |
3: 145,300,374 (GRCm39) |
I193V |
probably benign |
Het |
|
| Other mutations in Cwc15 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02249:Cwc15
|
APN |
9 |
14,414,977 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02490:Cwc15
|
APN |
9 |
14,413,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1061:Cwc15
|
UTSW |
9 |
14,419,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1732:Cwc15
|
UTSW |
9 |
14,421,543 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5115:Cwc15
|
UTSW |
9 |
14,419,192 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5373:Cwc15
|
UTSW |
9 |
14,416,234 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5374:Cwc15
|
UTSW |
9 |
14,416,234 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6273:Cwc15
|
UTSW |
9 |
14,421,537 (GRCm39) |
missense |
probably benign |
|
|
R7297:Cwc15
|
UTSW |
9 |
14,421,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACACCCTGAGTTTCATAATTCGG -3'
(R):5'- ACTTCTCTTTGGAGATCAGTAACC -3'
Sequencing Primer
(F):5'- GAACTTGTGTTGAAGCAAACTAAGC -3'
(R):5'- GGTCCCATTCTGTGAACA -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation