Incidental Mutation 'R8758:Cwc22'
| ID |
671724 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cwc22
|
| Ensembl Gene |
ENSMUSG00000027014 |
| Gene Name |
CWC22 spliceosome-associated protein |
| Synonyms |
|
| MMRRC Submission |
068598-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8758 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
77711503-77776719 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 77747441 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 424
(E424G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000064947
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065889]
[ENSMUST00000111818]
[ENSMUST00000111819]
[ENSMUST00000111821]
[ENSMUST00000111824]
|
| AlphaFold |
Q8C5N3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000065889
AA Change: E424G
PolyPhen 2
Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000064947
Gene: ENSMUSG00000027014
AA Change: E424G
| 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: E424G
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000107449
Gene: ENSMUSG00000027014
AA Change: E424G
| 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: E425G
PolyPhen 2
Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000107450
Gene: ENSMUSG00000027014
AA Change: E425G
| 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: E424G
PolyPhen 2
Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000107452
Gene: ENSMUSG00000027014
AA Change: E424G
| 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: E424G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000107455
Gene: ENSMUSG00000027014
AA Change: E424G
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700009N14Rik |
G |
A |
4: 39,450,811 (GRCm39) |
D6N |
probably benign |
Het |
| AC157566.4 |
T |
C |
15: 76,418,382 (GRCm39) |
I42M |
probably benign |
Het |
| Amer2 |
C |
T |
14: 60,616,326 (GRCm39) |
R174C |
probably damaging |
Het |
| Arl8a |
A |
T |
1: 135,082,189 (GRCm39) |
D139V |
possibly damaging |
Het |
| Csmd3 |
A |
G |
15: 47,469,593 (GRCm39) |
Y2525H |
|
Het |
| D930048N14Rik |
A |
G |
11: 51,544,568 (GRCm39) |
T80A |
unknown |
Het |
| Ddx25 |
T |
A |
9: 35,453,300 (GRCm39) |
E483D |
probably benign |
Het |
| Dock4 |
A |
T |
12: 40,838,231 (GRCm39) |
E1057D |
probably benign |
Het |
| Dock7 |
C |
T |
4: 98,949,555 (GRCm39) |
R429Q |
|
Het |
| Dzip3 |
T |
C |
16: 48,798,300 (GRCm39) |
Y135C |
probably damaging |
Het |
| Evi5l |
G |
T |
8: 4,255,860 (GRCm39) |
A618S |
probably benign |
Het |
| Fibp |
A |
G |
19: 5,514,970 (GRCm39) |
D348G |
possibly damaging |
Het |
| Gimd1 |
T |
A |
3: 132,340,799 (GRCm39) |
L105H |
probably damaging |
Het |
| Glra1 |
T |
A |
11: 55,418,191 (GRCm39) |
I268F |
possibly damaging |
Het |
| Gm30191 |
A |
G |
4: 133,977,099 (GRCm39) |
T104A |
probably benign |
Het |
| Gm49359 |
A |
T |
13: 62,602,150 (GRCm39) |
I350K |
possibly damaging |
Het |
| Gpm6a |
T |
C |
8: 55,511,833 (GRCm39) |
S236P |
probably damaging |
Het |
| Igkv4-74 |
AG |
A |
6: 69,162,311 (GRCm39) |
|
probably null |
Het |
| Ikzf1 |
A |
G |
11: 11,711,359 (GRCm39) |
S198G |
probably benign |
Het |
| Kcna4 |
T |
A |
2: 107,126,494 (GRCm39) |
D409E |
probably damaging |
Het |
| Lipt2 |
GGCGCCCGCGCGCG |
GGCG |
7: 99,808,888 (GRCm39) |
|
probably null |
Het |
| Mgam |
T |
A |
6: 40,705,977 (GRCm39) |
D15E |
probably benign |
Het |
| Mmrn1 |
A |
G |
6: 60,964,193 (GRCm39) |
D1065G |
possibly damaging |
Het |
| Plxnc1 |
A |
C |
10: 94,758,607 (GRCm39) |
V363G |
possibly damaging |
Het |
| Ppp1r16b |
G |
A |
2: 158,593,098 (GRCm39) |
D226N |
probably damaging |
Het |
| Psg21 |
T |
C |
7: 18,384,678 (GRCm39) |
Y356C |
probably damaging |
Het |
| Ranbp1 |
T |
C |
16: 18,059,659 (GRCm39) |
D130G |
probably damaging |
Het |
| Rb1cc1 |
A |
T |
1: 6,310,451 (GRCm39) |
Q283L |
probably benign |
Het |
| Rph3a |
A |
T |
5: 121,097,365 (GRCm39) |
H250Q |
probably benign |
Het |
| Secisbp2 |
G |
A |
13: 51,833,869 (GRCm39) |
V670I |
possibly damaging |
Het |
| Skil |
C |
T |
3: 31,172,686 (GRCm39) |
A605V |
probably damaging |
Het |
| Slc28a3 |
T |
C |
13: 58,720,424 (GRCm39) |
T312A |
probably benign |
Het |
| Ssh2 |
T |
A |
11: 77,344,843 (GRCm39) |
C943S |
probably benign |
Het |
| Tgfbi |
C |
T |
13: 56,779,894 (GRCm39) |
A481V |
probably damaging |
Het |
| Tgfbr3 |
G |
A |
5: 107,297,750 (GRCm39) |
P217S |
probably damaging |
Het |
| Tmem135 |
A |
T |
7: 88,954,721 (GRCm39) |
W99R |
probably benign |
Het |
| Tmx1 |
A |
G |
12: 70,502,788 (GRCm39) |
Y52C |
possibly damaging |
Het |
| Ube3b |
A |
T |
5: 114,553,261 (GRCm39) |
|
probably benign |
Het |
| Vmn2r57 |
G |
T |
7: 41,078,163 (GRCm39) |
N98K |
probably damaging |
Het |
| Vwa3b |
A |
G |
1: 37,176,873 (GRCm39) |
D40G |
|
Het |
| Zfyve26 |
A |
G |
12: 79,311,083 (GRCm39) |
|
probably benign |
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 |
|
|
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 |
|
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'- TTCTGTCAGAGAAGGTGCTG -3'
(R):5'- TTTCCTTGCCATAGCCTGAG -3'
Sequencing Primer
(F):5'- AAGGTGCTGAAAAGTGTCCCTTG -3'
(R):5'- GCCTGAGGCTTGTGTGATTATG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation