Incidental Mutation 'IGL02240:Cwc27'
| ID |
286033 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cwc27
|
| Ensembl Gene |
ENSMUSG00000021715 |
| Gene Name |
CWC27 spliceosome-associated protein |
| Synonyms |
NY-CO-10, 3110009E13Rik, Sdccag10 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02240
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
104767648-104953649 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 104943151 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 130
(F130L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022228
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022228]
[ENSMUST00000154165]
|
| AlphaFold |
Q3TKY6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022228
AA Change: F130L
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000022228
Gene: ENSMUSG00000021715
AA Change: F130L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pro_isomerase
|
14 |
166 |
3.4e-47 |
PFAM |
|
low complexity region
|
176 |
197 |
N/A |
INTRINSIC |
|
low complexity region
|
209 |
217 |
N/A |
INTRINSIC |
|
coiled coil region
|
309 |
341 |
N/A |
INTRINSIC |
|
low complexity region
|
452 |
469 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145661
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154165
|
| SMART Domains |
Protein: ENSMUSP00000119076
Gene: ENSMUSG00000021715
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pro_isomerase
|
14 |
82 |
1.3e-24 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous mutant mice exhibit reduced viability. Surviors after birth show signs of growth retardation and retinal depigmentation, along with numerous neurological, immunological, and blood chemistry abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cand2 |
A |
G |
6: 115,780,623 (GRCm39) |
E1169G |
probably damaging |
Het |
| Cdc34 |
A |
G |
10: 79,523,823 (GRCm39) |
D168G |
possibly damaging |
Het |
| Dglucy |
T |
A |
12: 100,837,672 (GRCm39) |
M635K |
possibly damaging |
Het |
| Eral1 |
G |
A |
11: 77,968,687 (GRCm39) |
R149* |
probably null |
Het |
| Gad1-ps |
A |
G |
10: 99,280,820 (GRCm39) |
|
noncoding transcript |
Het |
| Glis3 |
A |
T |
19: 28,508,925 (GRCm39) |
L353Q |
probably damaging |
Het |
| Gsta2 |
T |
A |
9: 78,238,441 (GRCm39) |
I213F |
probably benign |
Het |
| Ist1 |
A |
T |
8: 110,408,836 (GRCm39) |
|
probably benign |
Het |
| Kif1b |
A |
G |
4: 149,330,871 (GRCm39) |
V549A |
probably damaging |
Het |
| Lrp2 |
C |
T |
2: 69,365,390 (GRCm39) |
R261H |
probably benign |
Het |
| Msh4 |
T |
C |
3: 153,579,311 (GRCm39) |
N512S |
probably damaging |
Het |
| Nlrp2 |
A |
T |
7: 5,330,822 (GRCm39) |
S525T |
probably damaging |
Het |
| Nlrp4a |
G |
T |
7: 26,148,703 (GRCm39) |
K103N |
possibly damaging |
Het |
| Or8b56 |
T |
A |
9: 38,739,602 (GRCm39) |
V205D |
probably benign |
Het |
| Pcdhb10 |
A |
T |
18: 37,545,455 (GRCm39) |
H177L |
possibly damaging |
Het |
| Plcb3 |
A |
T |
19: 6,935,448 (GRCm39) |
|
probably benign |
Het |
| Podxl |
A |
G |
6: 31,501,933 (GRCm39) |
L342P |
probably damaging |
Het |
| Psd4 |
T |
G |
2: 24,286,389 (GRCm39) |
S330A |
probably benign |
Het |
| Sucla2 |
A |
G |
14: 73,828,287 (GRCm39) |
D298G |
probably damaging |
Het |
| Tecr |
T |
C |
8: 84,300,045 (GRCm39) |
D107G |
probably damaging |
Het |
| Vamp4 |
T |
A |
1: 162,405,446 (GRCm39) |
N24K |
possibly damaging |
Het |
| Zfp91 |
A |
G |
19: 12,753,770 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Cwc27 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01955:Cwc27
|
APN |
13 |
104,944,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02398:Cwc27
|
APN |
13 |
104,940,762 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02620:Cwc27
|
APN |
13 |
104,938,714 (GRCm39) |
splice site |
probably benign |
|
|
IGL03213:Cwc27
|
APN |
13 |
104,932,911 (GRCm39) |
splice site |
probably benign |
|
|
pam1
|
UTSW |
13 |
104,797,865 (GRCm39) |
nonsense |
probably null |
|
|
R0375:Cwc27
|
UTSW |
13 |
104,944,331 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0483:Cwc27
|
UTSW |
13 |
104,947,724 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0534:Cwc27
|
UTSW |
13 |
104,768,124 (GRCm39) |
missense |
unknown |
|
|
R0550:Cwc27
|
UTSW |
13 |
104,941,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0562:Cwc27
|
UTSW |
13 |
104,797,865 (GRCm39) |
nonsense |
probably null |
|
|
R0563:Cwc27
|
UTSW |
13 |
104,797,865 (GRCm39) |
nonsense |
probably null |
|
|
R0564:Cwc27
|
UTSW |
13 |
104,797,865 (GRCm39) |
nonsense |
probably null |
|
|
R0972:Cwc27
|
UTSW |
13 |
104,797,865 (GRCm39) |
nonsense |
probably null |
|
|
R1536:Cwc27
|
UTSW |
13 |
104,933,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1546:Cwc27
|
UTSW |
13 |
104,938,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1587:Cwc27
|
UTSW |
13 |
104,929,145 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1934:Cwc27
|
UTSW |
13 |
104,768,184 (GRCm39) |
missense |
probably benign |
0.28 |
|
R2159:Cwc27
|
UTSW |
13 |
104,940,837 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2249:Cwc27
|
UTSW |
13 |
104,768,130 (GRCm39) |
missense |
unknown |
|
|
R2252:Cwc27
|
UTSW |
13 |
104,768,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2394:Cwc27
|
UTSW |
13 |
104,932,942 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2698:Cwc27
|
UTSW |
13 |
104,943,259 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3899:Cwc27
|
UTSW |
13 |
104,929,023 (GRCm39) |
nonsense |
probably null |
|
|
R5121:Cwc27
|
UTSW |
13 |
104,940,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6317:Cwc27
|
UTSW |
13 |
104,940,769 (GRCm39) |
nonsense |
probably null |
|
|
R6763:Cwc27
|
UTSW |
13 |
104,947,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7187:Cwc27
|
UTSW |
13 |
104,797,900 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7958:Cwc27
|
UTSW |
13 |
104,941,472 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8465:Cwc27
|
UTSW |
13 |
104,940,776 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R8465:Cwc27
|
UTSW |
13 |
104,940,772 (GRCm39) |
missense |
probably benign |
|
|
R8466:Cwc27
|
UTSW |
13 |
104,940,776 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R8466:Cwc27
|
UTSW |
13 |
104,940,772 (GRCm39) |
missense |
probably benign |
|
|
R8483:Cwc27
|
UTSW |
13 |
104,940,776 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R8483:Cwc27
|
UTSW |
13 |
104,940,772 (GRCm39) |
missense |
probably benign |
|
|
R8485:Cwc27
|
UTSW |
13 |
104,940,776 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R8485:Cwc27
|
UTSW |
13 |
104,940,772 (GRCm39) |
missense |
probably benign |
|
|
R9320:Cwc27
|
UTSW |
13 |
104,933,799 (GRCm39) |
missense |
probably benign |
|
|
R9710:Cwc27
|
UTSW |
13 |
104,943,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation