Incidental Mutation 'R6763:Cwc27'
| ID |
531788 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cwc27
|
| Ensembl Gene |
ENSMUSG00000021715 |
| Gene Name |
CWC27 spliceosome-associated protein |
| Synonyms |
NY-CO-10, 3110009E13Rik, Sdccag10 |
| MMRRC Submission |
044879-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6763 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
104767648-104953649 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 104947809 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 19
(T19A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119076
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022228]
[ENSMUST00000154165]
|
| AlphaFold |
Q3TKY6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022228
AA Change: T19A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022228
Gene: ENSMUSG00000021715
AA Change: T19A
| 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 |
probably damaging
Transcript: ENSMUST00000154165
AA Change: T19A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119076
Gene: ENSMUSG00000021715
AA Change: T19A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pro_isomerase
|
14 |
82 |
1.3e-24 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.2%
|
| 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 |
|---|
| Aaas |
C |
A |
15: 102,248,457 (GRCm39) |
R286L |
probably null |
Het |
| Actrt2 |
A |
G |
4: 154,751,836 (GRCm39) |
V100A |
probably damaging |
Het |
| Adra1b |
A |
G |
11: 43,666,833 (GRCm39) |
L468P |
possibly damaging |
Het |
| Ankhd1 |
A |
G |
18: 36,776,022 (GRCm39) |
E1457G |
probably benign |
Het |
| Aspm |
A |
T |
1: 139,398,255 (GRCm39) |
M974L |
possibly damaging |
Het |
| Atp8a2 |
T |
A |
14: 60,245,857 (GRCm39) |
I612F |
probably benign |
Het |
| Cabin1 |
A |
G |
10: 75,582,564 (GRCm39) |
L284P |
probably damaging |
Het |
| Cand2 |
T |
A |
6: 115,776,930 (GRCm39) |
M1106K |
probably benign |
Het |
| Ccbe1 |
A |
T |
18: 66,194,459 (GRCm39) |
F376I |
possibly damaging |
Het |
| Ceacam14 |
A |
G |
7: 17,549,268 (GRCm39) |
T220A |
probably benign |
Het |
| Celsr3 |
A |
G |
9: 108,704,549 (GRCm39) |
D344G |
probably damaging |
Het |
| Chaf1b |
A |
G |
16: 93,688,393 (GRCm39) |
K163E |
probably damaging |
Het |
| Clec2d |
C |
A |
6: 129,161,107 (GRCm39) |
T68K |
probably benign |
Het |
| Dnah7c |
A |
T |
1: 46,668,050 (GRCm39) |
Y1519F |
possibly damaging |
Het |
| E130308A19Rik |
A |
T |
4: 59,752,288 (GRCm39) |
K467M |
probably damaging |
Het |
| Garnl3 |
T |
C |
2: 32,944,208 (GRCm39) |
Y117C |
probably damaging |
Het |
| Gas2l3 |
T |
C |
10: 89,249,231 (GRCm39) |
Y629C |
probably benign |
Het |
| Lama1 |
A |
G |
17: 68,053,868 (GRCm39) |
N470D |
unknown |
Het |
| Lmtk2 |
T |
A |
5: 144,110,615 (GRCm39) |
I445N |
probably damaging |
Het |
| Lrba |
A |
G |
3: 86,261,570 (GRCm39) |
D1508G |
probably damaging |
Het |
| Muc5b |
A |
G |
7: 141,416,021 (GRCm39) |
H2989R |
probably benign |
Het |
| Niban2 |
T |
C |
2: 32,801,460 (GRCm39) |
|
probably null |
Het |
| Nln |
A |
T |
13: 104,172,163 (GRCm39) |
W638R |
probably damaging |
Het |
| Nup133 |
T |
C |
8: 124,671,017 (GRCm39) |
I127V |
possibly damaging |
Het |
| Nup155 |
C |
T |
15: 8,165,379 (GRCm39) |
R672* |
probably null |
Het |
| Prkcb |
A |
G |
7: 122,193,887 (GRCm39) |
Y532C |
probably damaging |
Het |
| Ptpro |
A |
G |
6: 137,395,279 (GRCm39) |
|
probably null |
Het |
| Rab11fip5 |
A |
G |
6: 85,319,152 (GRCm39) |
L579S |
probably benign |
Het |
| Rtca |
A |
G |
3: 116,301,398 (GRCm39) |
|
probably null |
Het |
| Sdccag8 |
A |
G |
1: 176,682,193 (GRCm39) |
|
probably null |
Het |
| Svil |
G |
T |
18: 5,056,437 (GRCm39) |
D524Y |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,560,636 (GRCm39) |
N788S |
probably benign |
Het |
| Wdfy4 |
G |
T |
14: 32,764,469 (GRCm39) |
R2140S |
probably damaging |
Het |
| Zfp518a |
A |
G |
19: 40,902,192 (GRCm39) |
K707R |
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 |
|
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 |
|
|
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'- TAGAAAGCTCATCCCTGCAG -3'
(R):5'- AATCGCCTGATGATGACTGGG -3'
Sequencing Primer
(F):5'- TGCCTAGGATGCTCTGAAAC -3'
(R):5'- GCTACTTGTTAGTGTTGCA -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation