Incidental Mutation 'IGL02620:Cwc27'
ID |
300841 |
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 # |
IGL02620
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
104767648-104953649 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
C to A
at 104938714 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022228
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022228]
|
AlphaFold |
Q3TKY6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022228
|
SMART Domains |
Protein: ENSMUSP00000022228 Gene: ENSMUSG00000021715
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
|
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc12 |
A |
T |
8: 87,231,943 (GRCm39) |
|
probably null |
Het |
Bltp1 |
T |
C |
3: 37,090,094 (GRCm39) |
V4174A |
possibly damaging |
Het |
Ccdc150 |
T |
A |
1: 54,302,704 (GRCm39) |
L108* |
probably null |
Het |
Cdon |
C |
T |
9: 35,364,095 (GRCm39) |
T71I |
probably benign |
Het |
Chdh |
T |
C |
14: 29,753,096 (GRCm39) |
W2R |
probably damaging |
Het |
Ckap5 |
T |
G |
2: 91,436,714 (GRCm39) |
L1605V |
probably benign |
Het |
Cluh |
C |
T |
11: 74,555,893 (GRCm39) |
Q819* |
probably null |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Elk4 |
C |
A |
1: 131,946,109 (GRCm39) |
A329D |
probably benign |
Het |
Fbxo40 |
T |
C |
16: 36,786,442 (GRCm39) |
H709R |
probably benign |
Het |
Flna |
A |
G |
X: 73,273,582 (GRCm39) |
|
probably benign |
Het |
Grip2 |
G |
T |
6: 91,755,587 (GRCm39) |
D592E |
possibly damaging |
Het |
H2-T24 |
T |
G |
17: 36,328,183 (GRCm39) |
N100T |
probably damaging |
Het |
Hepacam2 |
C |
A |
6: 3,487,280 (GRCm39) |
|
probably benign |
Het |
Ighv2-2 |
T |
A |
12: 113,551,912 (GRCm39) |
T109S |
possibly damaging |
Het |
Ipo11 |
T |
C |
13: 107,012,789 (GRCm39) |
|
probably null |
Het |
Kcnh8 |
T |
C |
17: 53,205,525 (GRCm39) |
M540T |
probably damaging |
Het |
Kifc3 |
A |
G |
8: 95,836,582 (GRCm39) |
S82P |
probably damaging |
Het |
Map4k5 |
T |
C |
12: 69,939,476 (GRCm39) |
Y20C |
probably benign |
Het |
Milr1 |
C |
A |
11: 106,645,744 (GRCm39) |
S95R |
probably damaging |
Het |
Mtnr1b |
A |
C |
9: 15,785,617 (GRCm39) |
V47G |
possibly damaging |
Het |
Nme1nme2 |
G |
T |
11: 93,843,682 (GRCm39) |
R173S |
possibly damaging |
Het |
Or6a2 |
T |
A |
7: 106,600,825 (GRCm39) |
K81* |
probably null |
Het |
Phactr2 |
T |
C |
10: 13,167,632 (GRCm39) |
R100G |
probably damaging |
Het |
Potefam1 |
C |
T |
2: 111,041,970 (GRCm39) |
V322I |
probably benign |
Het |
Ppargc1b |
A |
G |
18: 61,431,810 (GRCm39) |
Y997H |
probably damaging |
Het |
Pramel3a |
A |
G |
X: 134,211,158 (GRCm39) |
M397V |
probably benign |
Het |
Ptprz1 |
A |
G |
6: 22,959,739 (GRCm39) |
K79E |
probably damaging |
Het |
Rabgef1 |
T |
C |
5: 130,219,863 (GRCm39) |
S109P |
probably damaging |
Het |
Raf1 |
A |
T |
6: 115,609,848 (GRCm39) |
|
probably benign |
Het |
Rptor |
T |
C |
11: 119,671,413 (GRCm39) |
L292P |
probably benign |
Het |
Slc25a45 |
A |
G |
19: 5,934,554 (GRCm39) |
D174G |
probably damaging |
Het |
Tbcd |
C |
T |
11: 121,352,081 (GRCm39) |
T146M |
probably damaging |
Het |
Zfp458 |
T |
A |
13: 67,406,058 (GRCm39) |
H127L |
probably damaging |
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 |
IGL02240:Cwc27
|
APN |
13 |
104,943,151 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02398:Cwc27
|
APN |
13 |
104,940,762 (GRCm39) |
missense |
possibly damaging |
0.82 |
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 |