Incidental Mutation 'R1394:Cwc22'
| ID |
162728 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cwc22
|
| Ensembl Gene |
ENSMUSG00000027014 |
| Gene Name |
CWC22 spliceosome-associated protein |
| Synonyms |
|
| MMRRC Submission |
039456-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1394 (G1)
|
| Quality Score |
177 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
77711503-77776719 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 77759823 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 75
(R75C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107455
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065889]
[ENSMUST00000111818]
[ENSMUST00000111819]
[ENSMUST00000111821]
[ENSMUST00000111824]
[ENSMUST00000127289]
[ENSMUST00000128963]
|
| AlphaFold |
Q8C5N3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000065889
AA Change: R75C
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000064947
Gene: ENSMUSG00000027014
AA Change: R75C
| 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 |
possibly damaging
Transcript: ENSMUST00000111818
AA Change: R75C
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000107449
Gene: ENSMUSG00000027014
AA Change: R75C
| 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 |
possibly damaging
Transcript: ENSMUST00000111819
AA Change: R76C
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000107450
Gene: ENSMUSG00000027014
AA Change: R76C
| 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 |
possibly damaging
Transcript: ENSMUST00000111821
AA Change: R75C
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000107452
Gene: ENSMUSG00000027014
AA Change: R75C
| 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 |
possibly damaging
Transcript: ENSMUST00000111824
AA Change: R75C
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000107455
Gene: ENSMUSG00000027014
AA Change: R75C
| 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 |
unknown
Transcript: ENSMUST00000127289
AA Change: R76C
|
| SMART Domains |
Protein: ENSMUSP00000122338
Gene: ENSMUSG00000027014
AA Change: R76C
| 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 |
unknown
Transcript: ENSMUST00000128963
AA Change: R75C
|
| SMART Domains |
Protein: ENSMUSP00000115067
Gene: ENSMUSG00000027014
AA Change: R75C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
37 |
98 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144727
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137494
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149012
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156863
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
A |
G |
5: 113,249,362 (GRCm39) |
Y122H |
probably damaging |
Het |
| Ankrd27 |
T |
C |
7: 35,315,294 (GRCm39) |
F481S |
possibly damaging |
Het |
| Casd1 |
T |
G |
6: 4,624,117 (GRCm39) |
C303W |
probably damaging |
Het |
| Cep128 |
C |
T |
12: 91,233,754 (GRCm39) |
R438Q |
probably benign |
Het |
| Cep192 |
A |
G |
18: 67,991,992 (GRCm39) |
T1957A |
probably damaging |
Het |
| Cep290 |
T |
C |
10: 100,373,391 (GRCm39) |
S1224P |
possibly damaging |
Het |
| Col5a2 |
A |
G |
1: 45,442,579 (GRCm39) |
|
probably null |
Het |
| Cyp4a30b |
A |
T |
4: 115,328,089 (GRCm39) |
|
probably null |
Het |
| Dnah11 |
T |
C |
12: 117,936,099 (GRCm39) |
D3298G |
possibly damaging |
Het |
| Drc3 |
T |
C |
11: 60,284,545 (GRCm39) |
I450T |
possibly damaging |
Het |
| Dst |
T |
C |
1: 34,204,236 (GRCm39) |
|
probably null |
Het |
| Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
| Emilin2 |
G |
T |
17: 71,560,066 (GRCm39) |
D970E |
possibly damaging |
Het |
| Fcgbp |
A |
G |
7: 27,792,804 (GRCm39) |
H936R |
probably damaging |
Het |
| Fkbp15 |
T |
A |
4: 62,246,109 (GRCm39) |
M440L |
probably benign |
Het |
| Fryl |
T |
C |
5: 73,230,255 (GRCm39) |
H1634R |
probably damaging |
Het |
| Gm44511 |
G |
A |
6: 128,797,293 (GRCm39) |
S32L |
possibly damaging |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Ift81 |
G |
T |
5: 122,706,986 (GRCm39) |
D485E |
probably benign |
Het |
| Ipp |
T |
A |
4: 116,395,109 (GRCm39) |
L548* |
probably null |
Het |
| Itm2a |
C |
T |
X: 106,441,807 (GRCm39) |
V200I |
possibly damaging |
Het |
| Kank1 |
A |
G |
19: 25,405,528 (GRCm39) |
N1182S |
probably damaging |
Het |
| Mkks |
C |
T |
2: 136,722,882 (GRCm39) |
G92S |
probably damaging |
Het |
| Mybbp1a |
C |
T |
11: 72,334,474 (GRCm39) |
P243L |
probably damaging |
Het |
| Myo1f |
A |
G |
17: 33,802,714 (GRCm39) |
D386G |
probably damaging |
Het |
| Obsl1 |
T |
C |
1: 75,469,309 (GRCm39) |
S109G |
probably damaging |
Het |
| Or6z6 |
T |
A |
7: 6,491,361 (GRCm39) |
T171S |
probably damaging |
Het |
| Or9s13 |
T |
A |
1: 92,548,267 (GRCm39) |
I213N |
probably benign |
Het |
| Pcdh12 |
A |
G |
18: 38,414,242 (GRCm39) |
|
probably null |
Het |
| Phlpp1 |
T |
C |
1: 106,278,348 (GRCm39) |
V920A |
possibly damaging |
Het |
| Phlpp2 |
T |
A |
8: 110,603,662 (GRCm39) |
C109* |
probably null |
Het |
| Prickle2 |
T |
A |
6: 92,353,363 (GRCm39) |
H701L |
possibly damaging |
Het |
| Psen1 |
G |
A |
12: 83,771,346 (GRCm39) |
G209R |
probably damaging |
Het |
| Psg19 |
T |
C |
7: 18,530,983 (GRCm39) |
N57S |
probably damaging |
Het |
| Rdh12 |
A |
G |
12: 79,255,839 (GRCm39) |
T9A |
probably benign |
Het |
| Rgma |
G |
T |
7: 73,067,542 (GRCm39) |
A360S |
probably benign |
Het |
| Scyl2 |
T |
A |
10: 89,476,827 (GRCm39) |
K766M |
possibly damaging |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Spata31e5 |
T |
C |
1: 28,815,890 (GRCm39) |
E714G |
possibly damaging |
Het |
| Spata46 |
A |
G |
1: 170,139,573 (GRCm39) |
T191A |
probably benign |
Het |
| Spin1 |
T |
C |
13: 51,298,517 (GRCm39) |
Y179H |
probably damaging |
Het |
| Tecpr1 |
T |
C |
5: 144,143,357 (GRCm39) |
T673A |
possibly damaging |
Het |
| Tenm3 |
T |
A |
8: 48,729,435 (GRCm39) |
M1508L |
probably benign |
Het |
| Vasn |
C |
T |
16: 4,467,576 (GRCm39) |
R508* |
probably null |
Het |
| Vmn2r15 |
T |
A |
5: 109,442,014 (GRCm39) |
I140L |
probably benign |
Het |
| Wdr44 |
T |
G |
X: 23,662,298 (GRCm39) |
C645G |
probably damaging |
Het |
| Zfand1 |
G |
T |
3: 10,411,269 (GRCm39) |
T62K |
probably benign |
Het |
| Zfy1 |
C |
T |
Y: 725,957 (GRCm39) |
V603I |
possibly 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 |
|
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'- TGATCTGCTCCTGCATCATCCTGAG -3'
(R):5'- TTGCAGCCACGCTAAAGCCTAC -3'
Sequencing Primer
(F):5'- CTTCGCAGGAGGGATATACGC -3'
(R):5'- TAAAGCCTACTCTAAGCCTTAGC -3'
|
| Posted On |
2014-03-17 |
Incidental Mutation