Incidental Mutation 'R5467:Cwc22'
ID |
433270 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cwc22
|
Ensembl Gene |
ENSMUSG00000027014 |
Gene Name |
CWC22 spliceosome-associated protein |
Synonyms |
|
MMRRC Submission |
043028-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5467 (G1)
|
Quality Score |
136 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
77711503-77776719 bp(-) (GRCm39) |
Type of Mutation |
frame shift |
DNA Base Change (assembly) |
ATCTCTCTCTCTCTCTCT to ATCTCTCTCTCTCTCT
at 77759803 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 null
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 null
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 null
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 null
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 null
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 null
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: ENSMUST00000149012
|
Predicted Effect |
probably null
Transcript: ENSMUST00000128963
|
SMART Domains |
Protein: ENSMUSP00000115067 Gene: ENSMUSG00000027014
Domain | Start | End | E-Value | Type |
low complexity region
|
37 |
98 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137494
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156863
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144727
|
Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.2%
- 10x: 94.9%
- 20x: 89.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actn1 |
A |
G |
12: 80,222,991 (GRCm39) |
M525T |
possibly damaging |
Het |
Arpc5l |
T |
C |
2: 38,903,751 (GRCm39) |
V80A |
possibly damaging |
Het |
Atp7b |
G |
A |
8: 22,501,570 (GRCm39) |
T781I |
probably damaging |
Het |
Bltp3b |
G |
T |
10: 89,640,961 (GRCm39) |
G711W |
probably damaging |
Het |
Celsr3 |
A |
T |
9: 108,705,836 (GRCm39) |
D773V |
probably damaging |
Het |
Clcn6 |
A |
T |
4: 148,102,093 (GRCm39) |
H330Q |
possibly damaging |
Het |
Dmbt1 |
C |
A |
7: 130,642,723 (GRCm39) |
S180R |
probably damaging |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
Elovl7 |
T |
C |
13: 108,416,156 (GRCm39) |
V182A |
probably benign |
Het |
Eml3 |
G |
A |
19: 8,914,946 (GRCm39) |
W601* |
probably null |
Het |
Farp1 |
C |
T |
14: 121,472,489 (GRCm39) |
P208L |
probably damaging |
Het |
Fras1 |
A |
T |
5: 96,927,912 (GRCm39) |
Y3775F |
probably benign |
Het |
Gns |
T |
C |
10: 121,227,351 (GRCm39) |
W454R |
probably benign |
Het |
Katnip |
T |
C |
7: 125,442,527 (GRCm39) |
F812S |
possibly damaging |
Het |
Kcnh2 |
A |
T |
5: 24,531,765 (GRCm39) |
L40* |
probably null |
Het |
Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
Lrrc37 |
G |
T |
11: 103,494,091 (GRCm39) |
C655* |
probably null |
Het |
Mgl2 |
T |
A |
11: 70,025,878 (GRCm39) |
I31N |
possibly damaging |
Het |
Muc6 |
T |
C |
7: 141,216,448 (GRCm39) |
T2677A |
possibly damaging |
Het |
Ndst1 |
A |
G |
18: 60,825,093 (GRCm39) |
S742P |
probably benign |
Het |
Or10g6 |
G |
T |
9: 39,933,733 (GRCm39) |
V15L |
probably benign |
Het |
Or1o11 |
G |
T |
17: 37,756,973 (GRCm39) |
C187F |
probably damaging |
Het |
Or4d6 |
A |
C |
19: 12,086,023 (GRCm39) |
S70A |
probably benign |
Het |
Or5b112 |
A |
T |
19: 13,319,521 (GRCm39) |
Y133F |
probably damaging |
Het |
Or8g21 |
T |
C |
9: 38,906,200 (GRCm39) |
Y177C |
probably benign |
Het |
Pcdhb22 |
A |
G |
18: 37,653,188 (GRCm39) |
D552G |
probably benign |
Het |
Pikfyve |
T |
A |
1: 65,291,654 (GRCm39) |
V1291E |
probably damaging |
Het |
Ppp4r3a |
T |
C |
12: 101,009,729 (GRCm39) |
E636G |
probably damaging |
Het |
Prl5a1 |
A |
T |
13: 28,333,994 (GRCm39) |
I166L |
possibly damaging |
Het |
Rb1 |
T |
C |
14: 73,449,060 (GRCm39) |
D690G |
possibly damaging |
Het |
Sh3tc2 |
A |
G |
18: 62,123,759 (GRCm39) |
H840R |
possibly damaging |
Het |
Skida1 |
T |
C |
2: 18,050,923 (GRCm39) |
|
probably benign |
Het |
Slc31a2 |
A |
G |
4: 62,210,924 (GRCm39) |
H19R |
probably damaging |
Het |
Styxl2 |
C |
A |
1: 165,939,599 (GRCm39) |
|
probably null |
Het |
Tnks2 |
A |
T |
19: 36,859,176 (GRCm39) |
R314W |
probably damaging |
Het |
Trak1 |
A |
G |
9: 121,275,864 (GRCm39) |
D189G |
probably damaging |
Het |
Trav13n-4 |
T |
A |
14: 53,601,303 (GRCm39) |
V24E |
probably damaging |
Het |
Ylpm1 |
T |
C |
12: 85,043,633 (GRCm39) |
Y124H |
unknown |
Het |
Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
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 |
R1086:Cwc22
|
UTSW |
2 |
77,754,824 (GRCm39) |
unclassified |
probably benign |
|
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 |
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'- AGCTTCGCAGGAGGGATATAC -3'
(R):5'- GTAAAGAGTGTCACCCTCACGG -3'
Sequencing Primer
(F):5'- GGATATACGCTCCCCCAGTG -3'
(R):5'- TAAGCCTTAGCCCTGAGTCAG -3'
|
Posted On |
2016-10-06 |