Incidental Mutation 'R5531:Cwc22'
| ID |
433679 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cwc22
|
| Ensembl Gene |
ENSMUSG00000027014 |
| Gene Name |
CWC22 spliceosome-associated protein |
| Synonyms |
|
| MMRRC Submission |
043089-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5531 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
77711503-77776719 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 77754913 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 221
(N221S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107452
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065889]
[ENSMUST00000111818]
[ENSMUST00000111819]
[ENSMUST00000111821]
[ENSMUST00000111824]
[ENSMUST00000127289]
[ENSMUST00000128963]
|
| AlphaFold |
Q8C5N3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065889
AA Change: N221S
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000064947
Gene: ENSMUSG00000027014
AA Change: N221S
| 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 damaging
Transcript: ENSMUST00000111818
AA Change: N221S
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000107449
Gene: ENSMUSG00000027014
AA Change: N221S
| 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 damaging
Transcript: ENSMUST00000111819
AA Change: N222S
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000107450
Gene: ENSMUSG00000027014
AA Change: N222S
| 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 damaging
Transcript: ENSMUST00000111821
AA Change: N221S
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000107452
Gene: ENSMUSG00000027014
AA Change: N221S
| 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 damaging
Transcript: ENSMUST00000111824
AA Change: N221S
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000107455
Gene: ENSMUSG00000027014
AA Change: N221S
| 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: ENSMUST00000144727
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149012
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137494
|
| 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 |
|
| Meta Mutation Damage Score |
0.6284 |
| Coding Region Coverage |
- 1x: 98.6%
- 3x: 97.5%
- 10x: 95.6%
- 20x: 92.2%
|
| Validation Efficiency |
97% (64/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
T |
C |
5: 114,342,767 (GRCm39) |
F878L |
possibly damaging |
Het |
| Acr |
T |
A |
15: 89,458,146 (GRCm39) |
Y276N |
probably damaging |
Het |
| AI987944 |
A |
T |
7: 41,023,814 (GRCm39) |
Y388* |
probably null |
Het |
| Ankrd29 |
G |
A |
18: 12,412,835 (GRCm39) |
T114I |
probably damaging |
Het |
| Ap5z1 |
T |
C |
5: 142,453,536 (GRCm39) |
M168T |
probably benign |
Het |
| Bard1 |
A |
C |
1: 71,085,880 (GRCm39) |
C608W |
probably damaging |
Het |
| Brd10 |
A |
G |
19: 29,731,072 (GRCm39) |
S647P |
possibly damaging |
Het |
| Clspn |
A |
G |
4: 126,471,566 (GRCm39) |
R907G |
probably benign |
Het |
| Cubn |
C |
T |
2: 13,355,743 (GRCm39) |
V1830I |
probably benign |
Het |
| Dact3 |
A |
G |
7: 16,609,540 (GRCm39) |
E64G |
possibly damaging |
Het |
| Dhx40 |
T |
C |
11: 86,680,330 (GRCm39) |
E381G |
possibly damaging |
Het |
| Dnah7a |
A |
G |
1: 53,458,907 (GRCm39) |
S3744P |
possibly damaging |
Het |
| Epha4 |
A |
G |
1: 77,351,513 (GRCm39) |
V914A |
probably benign |
Het |
| Fbxw10 |
G |
A |
11: 62,753,482 (GRCm39) |
C492Y |
probably damaging |
Het |
| G930045G22Rik |
C |
A |
6: 50,824,756 (GRCm39) |
|
noncoding transcript |
Het |
| Gm21103 |
A |
T |
14: 17,484,855 (GRCm39) |
I63K |
probably damaging |
Het |
| Gpr156 |
T |
C |
16: 37,825,619 (GRCm39) |
V612A |
probably benign |
Het |
| Gucy2g |
A |
G |
19: 55,229,572 (GRCm39) |
S33P |
probably benign |
Het |
| Hibch |
A |
G |
1: 52,884,228 (GRCm39) |
|
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,619,539 (GRCm39) |
C1192S |
probably damaging |
Het |
| Hsd11b1 |
CGG |
CG |
1: 192,922,557 (GRCm39) |
|
probably null |
Het |
| Ifi214 |
A |
G |
1: 173,352,686 (GRCm39) |
Y248H |
probably damaging |
Het |
| Igf2bp2 |
T |
G |
16: 21,907,835 (GRCm39) |
I89L |
probably damaging |
Het |
| Il2ra |
A |
T |
2: 11,681,703 (GRCm39) |
T103S |
possibly damaging |
Het |
| Ino80 |
T |
A |
2: 119,276,056 (GRCm39) |
M407L |
probably benign |
Het |
| Jade1 |
A |
C |
3: 41,567,946 (GRCm39) |
K671N |
probably benign |
Het |
| Lca5 |
C |
T |
9: 83,280,648 (GRCm39) |
S384N |
probably benign |
Het |
| Lce1l |
G |
T |
3: 92,757,804 (GRCm39) |
P18H |
unknown |
Het |
| Lrrc8d |
T |
C |
5: 105,945,536 (GRCm39) |
|
probably benign |
Het |
| Ly75 |
T |
C |
2: 60,195,489 (GRCm39) |
N223S |
probably damaging |
Het |
| Mcm3 |
A |
T |
1: 20,873,768 (GRCm39) |
F784Y |
possibly damaging |
Het |
| Ncf4 |
T |
G |
15: 78,144,988 (GRCm39) |
|
probably benign |
Het |
| Ncoa1 |
T |
A |
12: 4,303,746 (GRCm39) |
M1362L |
probably benign |
Het |
| Or1e16 |
T |
C |
11: 73,286,003 (GRCm39) |
T282A |
probably benign |
Het |
| Or5p5 |
A |
G |
7: 107,414,451 (GRCm39) |
Y220C |
probably benign |
Het |
| Or6c8b |
G |
C |
10: 128,882,433 (GRCm39) |
F166L |
probably damaging |
Het |
| Prkg2 |
T |
C |
5: 99,115,593 (GRCm39) |
R543G |
probably damaging |
Het |
| Ptprd |
A |
C |
4: 75,977,904 (GRCm39) |
|
probably null |
Het |
| Scap |
A |
G |
9: 110,210,497 (GRCm39) |
S969G |
possibly damaging |
Het |
| Sgk2 |
T |
C |
2: 162,836,624 (GRCm39) |
F60S |
probably benign |
Het |
| Sgpp1 |
G |
T |
12: 75,781,981 (GRCm39) |
Y119* |
probably null |
Het |
| Siglech |
A |
T |
7: 55,418,413 (GRCm39) |
K31* |
probably null |
Het |
| Slc40a1 |
A |
G |
1: 45,951,498 (GRCm39) |
Y220H |
probably damaging |
Het |
| Smurf2 |
G |
A |
11: 106,743,389 (GRCm39) |
T219M |
possibly damaging |
Het |
| Speer4f2 |
A |
G |
5: 17,581,526 (GRCm39) |
K156R |
possibly damaging |
Het |
| Spp1 |
T |
G |
5: 104,588,424 (GRCm39) |
D276E |
probably benign |
Het |
| Stk32b |
T |
C |
5: 37,617,078 (GRCm39) |
|
probably null |
Het |
| Stxbp5 |
G |
A |
10: 9,638,668 (GRCm39) |
Q1044* |
probably null |
Het |
| Sv2c |
T |
A |
13: 96,097,886 (GRCm39) |
T696S |
probably damaging |
Het |
| Tubgcp2 |
A |
C |
7: 139,584,937 (GRCm39) |
|
probably null |
Het |
| Ubap1l |
C |
T |
9: 65,278,973 (GRCm39) |
P91S |
probably damaging |
Het |
| Vmn2r76 |
A |
T |
7: 85,874,657 (GRCm39) |
D773E |
probably damaging |
Het |
| Xirp2 |
C |
G |
2: 67,345,646 (GRCm39) |
S2629C |
probably benign |
Het |
| Zbtb20 |
C |
A |
16: 43,431,230 (GRCm39) |
C580* |
probably null |
Het |
| Zfp957 |
T |
A |
14: 79,450,622 (GRCm39) |
Q392H |
unknown |
Het |
| Zfyve19 |
C |
T |
2: 119,042,427 (GRCm39) |
T178M |
probably damaging |
Het |
| Zswim6 |
T |
C |
13: 107,906,128 (GRCm39) |
|
noncoding transcript |
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 |
|
R5467:Cwc22
|
UTSW |
2 |
77,759,803 (GRCm39) |
frame shift |
probably null |
|
|
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'- AGTTTACACGTGAAGTCAGCAC -3'
(R):5'- ACCAAGATGTACTCTTTTCCTAGG -3'
Sequencing Primer
(F):5'- GTCAGCACGCTCACTTTTATAGAGG -3'
(R):5'- CCGAATGGGCTTTTACTATTCATG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation