Incidental Mutation 'R1086:Cwc22'
ID |
85012 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cwc22
|
Ensembl Gene |
ENSMUSG00000027014 |
Gene Name |
CWC22 spliceosome-associated protein |
Synonyms |
|
MMRRC Submission |
039172-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1086 (G1)
|
Quality Score |
170 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
77711503-77776719 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
T to A
at 77754824 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115067
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065889]
[ENSMUST00000111818]
[ENSMUST00000111819]
[ENSMUST00000111821]
[ENSMUST00000111824]
[ENSMUST00000127289]
[ENSMUST00000128963]
|
AlphaFold |
Q8C5N3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000065889
|
SMART Domains |
Protein: ENSMUSP00000064947 Gene: ENSMUSG00000027014
Domain | Start | End | E-Value | Type |
low complexity region
|
37 |
98 |
N/A |
INTRINSIC |
MIF4G
|
161 |
344 |
1e-33 |
SMART |
low complexity region
|
421 |
438 |
N/A |
INTRINSIC |
MA3
|
454 |
560 |
4.45e-26 |
SMART |
low complexity region
|
669 |
712 |
N/A |
INTRINSIC |
low complexity region
|
746 |
777 |
N/A |
INTRINSIC |
low complexity region
|
847 |
862 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111818
|
SMART Domains |
Protein: ENSMUSP00000107449 Gene: ENSMUSG00000027014
Domain | Start | End | E-Value | Type |
low complexity region
|
37 |
98 |
N/A |
INTRINSIC |
MIF4G
|
161 |
344 |
1e-33 |
SMART |
low complexity region
|
421 |
438 |
N/A |
INTRINSIC |
MA3
|
454 |
560 |
4.45e-26 |
SMART |
low complexity region
|
668 |
713 |
N/A |
INTRINSIC |
low complexity region
|
740 |
771 |
N/A |
INTRINSIC |
low complexity region
|
841 |
856 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111819
|
SMART Domains |
Protein: ENSMUSP00000107450 Gene: ENSMUSG00000027014
Domain | Start | End | E-Value | Type |
low complexity region
|
38 |
99 |
N/A |
INTRINSIC |
MIF4G
|
162 |
345 |
1e-33 |
SMART |
low complexity region
|
422 |
439 |
N/A |
INTRINSIC |
MA3
|
455 |
561 |
4.45e-26 |
SMART |
low complexity region
|
669 |
714 |
N/A |
INTRINSIC |
low complexity region
|
741 |
772 |
N/A |
INTRINSIC |
low complexity region
|
842 |
857 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111821
|
SMART Domains |
Protein: ENSMUSP00000107452 Gene: ENSMUSG00000027014
Domain | Start | End | E-Value | Type |
low complexity region
|
37 |
98 |
N/A |
INTRINSIC |
MIF4G
|
161 |
344 |
1e-33 |
SMART |
low complexity region
|
421 |
438 |
N/A |
INTRINSIC |
MA3
|
454 |
560 |
4.45e-26 |
SMART |
low complexity region
|
669 |
712 |
N/A |
INTRINSIC |
low complexity region
|
746 |
777 |
N/A |
INTRINSIC |
low complexity region
|
847 |
862 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111824
|
SMART Domains |
Protein: ENSMUSP00000107455 Gene: ENSMUSG00000027014
Domain | Start | End | E-Value | Type |
low complexity region
|
37 |
98 |
N/A |
INTRINSIC |
MIF4G
|
161 |
344 |
1e-33 |
SMART |
low complexity region
|
421 |
438 |
N/A |
INTRINSIC |
MA3
|
454 |
560 |
4.45e-26 |
SMART |
low complexity region
|
669 |
715 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127289
|
SMART Domains |
Protein: ENSMUSP00000122338 Gene: ENSMUSG00000027014
Domain | Start | End | E-Value | Type |
low complexity region
|
38 |
99 |
N/A |
INTRINSIC |
PDB:4C9B|B
|
115 |
139 |
2e-9 |
PDB |
Blast:MIF4G
|
118 |
139 |
1e-6 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127351
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137494
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144727
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149012
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000128963
|
SMART Domains |
Protein: ENSMUSP00000115067 Gene: ENSMUSG00000027014
Domain | Start | End | E-Value | Type |
low complexity region
|
37 |
98 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 94.4%
|
Validation Efficiency |
100% (53/53) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
A |
T |
1: 71,334,220 (GRCm39) |
|
probably benign |
Het |
Agbl4 |
G |
C |
4: 110,335,791 (GRCm39) |
|
probably benign |
Het |
Ano6 |
T |
C |
15: 95,847,843 (GRCm39) |
|
probably null |
Het |
B3gnt8 |
C |
G |
7: 25,327,736 (GRCm39) |
N55K |
probably damaging |
Het |
Brox |
A |
G |
1: 183,064,052 (GRCm39) |
Y252H |
probably damaging |
Het |
Cfap100 |
T |
A |
6: 90,380,890 (GRCm39) |
K605* |
probably null |
Het |
Chd7 |
A |
G |
4: 8,866,458 (GRCm39) |
T877A |
probably benign |
Het |
Csmd3 |
T |
A |
15: 47,559,151 (GRCm39) |
I2371F |
probably damaging |
Het |
Cyp2s1 |
A |
T |
7: 25,505,422 (GRCm39) |
D347E |
probably damaging |
Het |
Dab1 |
C |
A |
4: 104,185,769 (GRCm39) |
|
probably benign |
Het |
Dis3l2 |
G |
A |
1: 86,917,871 (GRCm39) |
D493N |
probably benign |
Het |
Got1l1 |
A |
G |
8: 27,688,007 (GRCm39) |
W341R |
probably damaging |
Het |
Gps2 |
A |
G |
11: 69,806,050 (GRCm39) |
|
probably benign |
Het |
Haus1 |
A |
C |
18: 77,854,553 (GRCm39) |
|
probably benign |
Het |
Itgam |
T |
C |
7: 127,679,436 (GRCm39) |
S193P |
probably damaging |
Het |
Itpr2 |
C |
A |
6: 146,251,543 (GRCm39) |
A1034S |
probably damaging |
Het |
Lrp5 |
T |
C |
19: 3,699,476 (GRCm39) |
R270G |
probably benign |
Het |
Ltbr |
G |
A |
6: 125,289,703 (GRCm39) |
|
probably benign |
Het |
Mdga2 |
T |
C |
12: 66,552,876 (GRCm39) |
|
probably benign |
Het |
Mug1 |
T |
A |
6: 121,862,813 (GRCm39) |
M1387K |
probably damaging |
Het |
Nwd2 |
C |
T |
5: 63,963,917 (GRCm39) |
S1167L |
probably damaging |
Het |
Or5h19 |
T |
A |
16: 58,856,626 (GRCm39) |
H158L |
probably damaging |
Het |
Pfkm |
T |
C |
15: 98,029,546 (GRCm39) |
V719A |
probably benign |
Het |
Ppfia3 |
C |
G |
7: 45,011,182 (GRCm39) |
G16A |
probably damaging |
Het |
Ppp2r3d |
G |
A |
9: 101,031,021 (GRCm39) |
T245I |
possibly damaging |
Het |
Ptprd |
T |
C |
4: 76,051,495 (GRCm39) |
T256A |
probably damaging |
Het |
Ptprg |
C |
T |
14: 11,952,706 (GRCm38) |
|
probably benign |
Het |
Rabgap1 |
T |
C |
2: 37,359,458 (GRCm39) |
V7A |
probably damaging |
Het |
Rnh1 |
T |
G |
7: 140,743,282 (GRCm39) |
Q231P |
probably benign |
Het |
Rwdd2b |
C |
T |
16: 87,233,446 (GRCm39) |
|
probably benign |
Het |
Saal1 |
T |
C |
7: 46,338,883 (GRCm39) |
|
probably benign |
Het |
Sap130 |
G |
A |
18: 31,783,673 (GRCm39) |
|
probably benign |
Het |
Serpina1d |
T |
G |
12: 103,730,046 (GRCm39) |
M379L |
probably benign |
Het |
Skor2 |
A |
C |
18: 76,946,994 (GRCm39) |
S239R |
unknown |
Het |
Slc16a13 |
A |
G |
11: 70,109,850 (GRCm39) |
L217P |
probably damaging |
Het |
Slc18b1 |
T |
C |
10: 23,679,693 (GRCm39) |
M74T |
probably benign |
Het |
Speer4e2 |
T |
C |
5: 15,028,804 (GRCm39) |
D29G |
probably benign |
Het |
Tacc2 |
A |
T |
7: 130,228,227 (GRCm39) |
E1637D |
possibly damaging |
Het |
Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
Tg |
A |
C |
15: 66,555,911 (GRCm39) |
I868L |
probably benign |
Het |
Ttll5 |
G |
A |
12: 85,937,853 (GRCm39) |
V395I |
possibly damaging |
Het |
Uba6 |
C |
A |
5: 86,275,578 (GRCm39) |
C739F |
probably benign |
Het |
Unc5d |
A |
C |
8: 29,365,658 (GRCm39) |
V109G |
possibly damaging |
Het |
Zfp407 |
C |
T |
18: 84,577,898 (GRCm39) |
A1072T |
probably benign |
Het |
Zfp462 |
G |
T |
4: 55,013,000 (GRCm39) |
K507N |
probably damaging |
Het |
|
Other mutations in Cwc22 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01399:Cwc22
|
APN |
2 |
77,747,408 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01739:Cwc22
|
APN |
2 |
77,757,640 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01754:Cwc22
|
APN |
2 |
77,754,883 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02011:Cwc22
|
APN |
2 |
77,751,366 (GRCm39) |
missense |
possibly damaging |
0.88 |
R0115:Cwc22
|
UTSW |
2 |
77,738,455 (GRCm39) |
missense |
probably damaging |
1.00 |
R0271:Cwc22
|
UTSW |
2 |
77,751,202 (GRCm39) |
missense |
probably benign |
0.19 |
R0481:Cwc22
|
UTSW |
2 |
77,738,455 (GRCm39) |
missense |
probably damaging |
1.00 |
R1165:Cwc22
|
UTSW |
2 |
77,734,242 (GRCm39) |
missense |
probably damaging |
0.98 |
R1394:Cwc22
|
UTSW |
2 |
77,759,823 (GRCm39) |
missense |
possibly damaging |
0.91 |
R1445:Cwc22
|
UTSW |
2 |
77,747,521 (GRCm39) |
splice site |
probably benign |
|
R1448:Cwc22
|
UTSW |
2 |
77,741,899 (GRCm39) |
missense |
probably damaging |
1.00 |
R1640:Cwc22
|
UTSW |
2 |
77,745,874 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1800:Cwc22
|
UTSW |
2 |
77,759,797 (GRCm39) |
missense |
possibly damaging |
0.70 |
R1822:Cwc22
|
UTSW |
2 |
77,755,003 (GRCm39) |
unclassified |
probably benign |
|
R1916:Cwc22
|
UTSW |
2 |
77,735,819 (GRCm39) |
missense |
probably benign |
0.28 |
R2225:Cwc22
|
UTSW |
2 |
77,738,495 (GRCm39) |
splice site |
probably benign |
|
R2360:Cwc22
|
UTSW |
2 |
77,757,591 (GRCm39) |
missense |
probably damaging |
1.00 |
R3113:Cwc22
|
UTSW |
2 |
77,754,823 (GRCm39) |
unclassified |
probably benign |
|
R4962:Cwc22
|
UTSW |
2 |
77,726,653 (GRCm39) |
missense |
probably benign |
0.00 |
R5363:Cwc22
|
UTSW |
2 |
77,759,803 (GRCm39) |
frame shift |
probably null |
|
R5394:Cwc22
|
UTSW |
2 |
77,759,683 (GRCm39) |
missense |
possibly damaging |
0.67 |
R5467:Cwc22
|
UTSW |
2 |
77,759,803 (GRCm39) |
frame shift |
probably null |
|
R5531:Cwc22
|
UTSW |
2 |
77,754,913 (GRCm39) |
missense |
probably damaging |
0.99 |
R5677:Cwc22
|
UTSW |
2 |
77,759,787 (GRCm39) |
missense |
probably damaging |
0.97 |
R6148:Cwc22
|
UTSW |
2 |
77,759,803 (GRCm39) |
frame shift |
probably null |
|
R6263:Cwc22
|
UTSW |
2 |
77,726,515 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6860:Cwc22
|
UTSW |
2 |
77,759,792 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7133:Cwc22
|
UTSW |
2 |
77,759,822 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7571:Cwc22
|
UTSW |
2 |
77,747,411 (GRCm39) |
missense |
probably benign |
|
R8168:Cwc22
|
UTSW |
2 |
77,757,615 (GRCm39) |
missense |
probably damaging |
1.00 |
R8709:Cwc22
|
UTSW |
2 |
77,726,694 (GRCm39) |
missense |
probably benign |
0.22 |
R8758:Cwc22
|
UTSW |
2 |
77,747,441 (GRCm39) |
missense |
possibly damaging |
0.81 |
R8954:Cwc22
|
UTSW |
2 |
77,754,937 (GRCm39) |
missense |
probably damaging |
0.97 |
R9129:Cwc22
|
UTSW |
2 |
77,726,659 (GRCm39) |
nonsense |
probably null |
|
R9266:Cwc22
|
UTSW |
2 |
77,754,952 (GRCm39) |
missense |
probably benign |
0.03 |
R9273:Cwc22
|
UTSW |
2 |
77,759,803 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
Predicted Primers |
PCR Primer
(F):5'- TCGCACCCAAGATGATCAAACAGTG -3'
(R):5'- AGCCCAGAGTGCGTCTCCAATC -3'
Sequencing Primer
(F):5'- CACAGGGAATCATTTTCATGCAGG -3'
(R):5'- AGAGTGCGTCTCCAATCTTCAC -3'
|
Posted On |
2013-11-18 |