Incidental Mutation 'R0564:Cwc27'
ID |
46087 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cwc27
|
Ensembl Gene |
ENSMUSG00000021715 |
Gene Name |
CWC27 spliceosome-associated protein |
Synonyms |
NY-CO-10, 3110009E13Rik, Sdccag10 |
MMRRC Submission |
038755-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0564 (G1)
|
Quality Score |
135 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
104767648-104953649 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to A
at 104797865 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Stop codon
at position 365
(E365*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022228
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022228]
|
AlphaFold |
Q3TKY6 |
Predicted Effect |
probably null
Transcript: ENSMUST00000022228
AA Change: E365*
|
SMART Domains |
Protein: ENSMUSP00000022228 Gene: ENSMUSG00000021715 AA Change: E365*
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 |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.7%
|
Validation Efficiency |
98% (52/53) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl5 |
A |
G |
10: 80,180,681 (GRCm39) |
V127A |
probably damaging |
Het |
Alox12 |
T |
A |
11: 70,143,662 (GRCm39) |
D202V |
probably damaging |
Het |
Ankib1 |
A |
G |
5: 3,779,655 (GRCm39) |
Y405H |
probably damaging |
Het |
Apbb2 |
A |
T |
5: 66,609,593 (GRCm39) |
M18K |
probably damaging |
Het |
Atad2 |
C |
A |
15: 57,989,229 (GRCm39) |
|
probably benign |
Het |
Birc6 |
T |
A |
17: 74,932,238 (GRCm39) |
|
probably benign |
Het |
Ccdc126 |
T |
C |
6: 49,311,076 (GRCm39) |
M28T |
possibly damaging |
Het |
Cdc16 |
A |
T |
8: 13,831,618 (GRCm39) |
D617V |
probably damaging |
Het |
Cep135 |
G |
A |
5: 76,763,557 (GRCm39) |
E516K |
probably damaging |
Het |
Cep135 |
G |
T |
5: 76,786,796 (GRCm39) |
M1081I |
probably benign |
Het |
Col6a3 |
A |
C |
1: 90,735,456 (GRCm39) |
V731G |
probably damaging |
Het |
Cstdc6 |
A |
T |
16: 36,143,346 (GRCm39) |
Y34* |
probably null |
Het |
Dip2b |
C |
A |
15: 100,060,600 (GRCm39) |
Y258* |
probably null |
Het |
Dnah17 |
A |
G |
11: 117,973,807 (GRCm39) |
V1900A |
probably damaging |
Het |
Dpysl2 |
A |
T |
14: 67,042,895 (GRCm39) |
|
probably benign |
Het |
Dync2h1 |
A |
T |
9: 7,139,432 (GRCm39) |
L1401Q |
probably damaging |
Het |
Esf1 |
A |
T |
2: 140,000,506 (GRCm39) |
Y427N |
possibly damaging |
Het |
Fbln1 |
T |
A |
15: 85,111,308 (GRCm39) |
V154D |
probably benign |
Het |
Frem2 |
A |
G |
3: 53,563,530 (GRCm39) |
F326L |
probably damaging |
Het |
Gm4922 |
T |
A |
10: 18,659,813 (GRCm39) |
N303I |
possibly damaging |
Het |
H1f6 |
G |
T |
13: 23,880,307 (GRCm39) |
K153N |
possibly damaging |
Het |
Iigp1 |
G |
A |
18: 60,523,523 (GRCm39) |
V214M |
probably damaging |
Het |
Luzp2 |
A |
G |
7: 54,485,710 (GRCm39) |
K2E |
probably damaging |
Het |
Mcc |
A |
G |
18: 44,601,574 (GRCm39) |
L410P |
probably damaging |
Het |
Mfn2 |
A |
G |
4: 147,967,712 (GRCm39) |
F452S |
probably damaging |
Het |
Mib2 |
C |
T |
4: 155,743,917 (GRCm39) |
G42S |
probably damaging |
Het |
Micu2 |
A |
G |
14: 58,156,831 (GRCm39) |
F335L |
possibly damaging |
Het |
Mpp3 |
T |
G |
11: 101,896,173 (GRCm39) |
K450T |
possibly damaging |
Het |
Mtmr4 |
T |
A |
11: 87,489,714 (GRCm39) |
V79E |
probably damaging |
Het |
Nlrp4b |
A |
G |
7: 10,448,585 (GRCm39) |
I263V |
probably benign |
Het |
Or52p2 |
T |
C |
7: 102,237,738 (GRCm39) |
I71V |
probably benign |
Het |
Or6c76 |
T |
G |
10: 129,612,005 (GRCm39) |
V74G |
probably damaging |
Het |
Pdk1 |
G |
A |
2: 71,710,383 (GRCm39) |
W113* |
probably null |
Het |
Phaf1 |
T |
A |
8: 105,966,603 (GRCm39) |
|
probably benign |
Het |
Phxr4 |
A |
T |
9: 13,342,993 (GRCm39) |
|
probably benign |
Het |
Rad51ap2 |
T |
A |
12: 11,507,897 (GRCm39) |
H606Q |
probably benign |
Het |
Ralgapa1 |
A |
T |
12: 55,829,670 (GRCm39) |
I187K |
possibly damaging |
Het |
Rps27 |
A |
G |
3: 90,120,230 (GRCm39) |
|
probably benign |
Het |
Sema3e |
T |
A |
5: 14,286,099 (GRCm39) |
|
probably null |
Het |
Sh2d3c |
G |
A |
2: 32,643,064 (GRCm39) |
C749Y |
probably damaging |
Het |
Siah2 |
T |
C |
3: 58,583,656 (GRCm39) |
D210G |
probably benign |
Het |
Smap2 |
G |
A |
4: 120,834,174 (GRCm39) |
P155S |
probably benign |
Het |
Snrk |
C |
T |
9: 121,995,610 (GRCm39) |
T463M |
possibly damaging |
Het |
Tm9sf3 |
A |
G |
19: 41,233,964 (GRCm39) |
|
probably benign |
Het |
Tmem132d |
C |
T |
5: 127,861,842 (GRCm39) |
E760K |
probably damaging |
Het |
Tmem184c |
A |
T |
8: 78,332,789 (GRCm39) |
|
probably null |
Het |
Tmem235 |
A |
T |
11: 117,751,674 (GRCm39) |
I33F |
possibly damaging |
Het |
Tmem267 |
A |
T |
13: 119,629,175 (GRCm39) |
|
probably null |
Het |
Top1 |
G |
A |
2: 160,556,185 (GRCm39) |
R548Q |
probably damaging |
Het |
Trio |
T |
C |
15: 27,805,908 (GRCm39) |
N527D |
probably damaging |
Het |
Upf3a |
A |
G |
8: 13,845,656 (GRCm39) |
K252E |
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 |
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AAGGTCACTGCATTCCTCCTTGTG -3'
(R):5'- GCAAAGCCTGACAAATTTAGTGCCTG -3'
Sequencing Primer
(F):5'- gcgagagccacagagcc -3'
(R):5'- GCCTGTCACTTTGTAACCGAG -3'
|
Posted On |
2013-06-11 |