Incidental Mutation 'IGL01399:Cwc22'
| ID |
79549 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cwc22
|
| Ensembl Gene |
ENSMUSG00000027014 |
| Gene Name |
CWC22 spliceosome-associated protein |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01399
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
77711503-77776719 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 77747408 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 435
(E435G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107455
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065889]
[ENSMUST00000111818]
[ENSMUST00000111819]
[ENSMUST00000111821]
[ENSMUST00000111824]
|
| AlphaFold |
Q8C5N3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065889
AA Change: E435G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000064947
Gene: ENSMUSG00000027014
AA Change: E435G
| 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
AA Change: E435G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000107449
Gene: ENSMUSG00000027014
AA Change: E435G
| 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
AA Change: E436G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000107450
Gene: ENSMUSG00000027014
AA Change: E436G
| 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
AA Change: E435G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000107452
Gene: ENSMUSG00000027014
AA Change: E435G
| 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
AA Change: E435G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000107455
Gene: ENSMUSG00000027014
AA Change: E435G
| 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 |
noncoding transcript
Transcript: ENSMUST00000137494
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144727
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apol11b |
G |
A |
15: 77,522,219 (GRCm39) |
T26M |
probably damaging |
Het |
| Asic4 |
T |
A |
1: 75,445,790 (GRCm39) |
N206K |
possibly damaging |
Het |
| Bsn |
A |
G |
9: 107,984,386 (GRCm39) |
Y3223H |
unknown |
Het |
| Btaf1 |
C |
T |
19: 36,977,570 (GRCm39) |
R1463* |
probably null |
Het |
| Ccdc146 |
A |
G |
5: 21,499,611 (GRCm39) |
I857T |
possibly damaging |
Het |
| Ccnf |
G |
A |
17: 24,443,986 (GRCm39) |
S594L |
probably damaging |
Het |
| Chd5 |
T |
C |
4: 152,441,144 (GRCm39) |
W195R |
probably damaging |
Het |
| Cntn1 |
A |
G |
15: 92,203,025 (GRCm39) |
Y769C |
probably damaging |
Het |
| Dct |
A |
G |
14: 118,273,890 (GRCm39) |
F339S |
probably damaging |
Het |
| Ddx54 |
G |
T |
5: 120,761,968 (GRCm39) |
E554* |
probably null |
Het |
| Dock3 |
G |
T |
9: 106,870,670 (GRCm39) |
S581R |
probably benign |
Het |
| Dst |
A |
G |
1: 34,156,598 (GRCm39) |
H176R |
probably benign |
Het |
| Emc8 |
A |
G |
8: 121,385,745 (GRCm39) |
M123T |
probably damaging |
Het |
| Evc |
T |
A |
5: 37,490,357 (GRCm39) |
D55V |
probably damaging |
Het |
| Gm5424 |
A |
G |
10: 61,907,272 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr149 |
A |
T |
3: 62,511,852 (GRCm39) |
L49Q |
probably damaging |
Het |
| Hcfc1 |
C |
T |
X: 72,993,515 (GRCm39) |
V1217I |
possibly damaging |
Het |
| Hoxa4 |
G |
T |
6: 52,167,393 (GRCm39) |
Q263K |
probably damaging |
Het |
| Ift172 |
T |
C |
5: 31,423,592 (GRCm39) |
E790G |
probably benign |
Het |
| Ipp |
A |
G |
4: 116,372,384 (GRCm39) |
N138D |
probably damaging |
Het |
| Isg20 |
A |
T |
7: 78,569,836 (GRCm39) |
T158S |
possibly damaging |
Het |
| Klf17 |
A |
G |
4: 117,616,356 (GRCm39) |
F325S |
probably damaging |
Het |
| Lilrb4a |
T |
C |
10: 51,370,161 (GRCm39) |
L233P |
probably benign |
Het |
| Malrd1 |
G |
A |
2: 16,106,768 (GRCm39) |
|
probably null |
Het |
| Myh9 |
A |
T |
15: 77,651,470 (GRCm39) |
L1544Q |
probably damaging |
Het |
| Nexmif |
T |
A |
X: 103,130,786 (GRCm39) |
D377V |
probably damaging |
Het |
| Nobox |
T |
C |
6: 43,280,972 (GRCm39) |
T501A |
probably benign |
Het |
| Noc3l |
T |
C |
19: 38,804,099 (GRCm39) |
D93G |
possibly damaging |
Het |
| Nrcam |
G |
T |
12: 44,622,667 (GRCm39) |
A938S |
probably benign |
Het |
| Nup205 |
T |
C |
6: 35,196,624 (GRCm39) |
I1120T |
possibly damaging |
Het |
| Or5b96 |
A |
T |
19: 12,867,803 (GRCm39) |
M46K |
probably benign |
Het |
| Or5h18 |
C |
T |
16: 58,847,629 (GRCm39) |
V214I |
probably benign |
Het |
| Ptpn3 |
T |
C |
4: 57,225,775 (GRCm39) |
D480G |
probably benign |
Het |
| Selenof |
C |
T |
3: 144,302,669 (GRCm39) |
T148I |
probably damaging |
Het |
| Sgce |
C |
A |
6: 4,746,997 (GRCm39) |
G31V |
probably damaging |
Het |
| Slc35e1 |
C |
A |
8: 73,238,534 (GRCm39) |
A325S |
probably damaging |
Het |
| Slc4a4 |
A |
G |
5: 89,376,794 (GRCm39) |
D1016G |
probably damaging |
Het |
| Synj2 |
T |
G |
17: 6,060,046 (GRCm39) |
C149W |
probably damaging |
Het |
| Tecpr1 |
A |
G |
5: 144,145,411 (GRCm39) |
|
probably null |
Het |
| Utp20 |
A |
G |
10: 88,594,164 (GRCm39) |
|
probably null |
Het |
| Vmn2r63 |
T |
A |
7: 42,553,543 (GRCm39) |
K571M |
probably damaging |
Het |
| Wdr53 |
A |
G |
16: 32,070,718 (GRCm39) |
D21G |
possibly damaging |
Het |
| Zbtb3 |
T |
C |
19: 8,780,819 (GRCm39) |
L144S |
probably damaging |
Het |
| Zfp185 |
T |
A |
X: 72,043,654 (GRCm39) |
S154T |
probably damaging |
Het |
|
| Other mutations in Cwc22 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
|
| Posted On |
2013-11-05 |
Incidental Mutation