Incidental Mutation 'R5363:Cwc22'
ID |
422908 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cwc22
|
Ensembl Gene |
ENSMUSG00000027014 |
Gene Name |
CWC22 spliceosome-associated protein |
Synonyms |
|
MMRRC Submission |
042941-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5363 (G1)
|
Quality Score |
107 |
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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca1 |
A |
G |
4: 53,132,963 (GRCm39) |
I40T |
probably benign |
Het |
Abca13 |
T |
C |
11: 9,227,035 (GRCm39) |
V597A |
possibly damaging |
Het |
Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
Anapc1 |
A |
G |
2: 128,492,114 (GRCm39) |
|
probably null |
Het |
Ap4e1 |
G |
A |
2: 126,879,784 (GRCm39) |
|
probably null |
Het |
Apod |
T |
C |
16: 31,129,909 (GRCm39) |
T16A |
probably benign |
Het |
Arrdc5 |
C |
T |
17: 56,607,138 (GRCm39) |
V36M |
probably damaging |
Het |
Bcan |
A |
G |
3: 87,902,794 (GRCm39) |
V328A |
probably damaging |
Het |
Bche |
A |
G |
3: 73,607,972 (GRCm39) |
Y485H |
probably damaging |
Het |
Btbd6 |
A |
G |
12: 112,941,756 (GRCm39) |
Y356C |
probably damaging |
Het |
Cdh4 |
A |
G |
2: 179,528,556 (GRCm39) |
T555A |
probably benign |
Het |
Ciita |
C |
T |
16: 10,330,031 (GRCm39) |
H769Y |
probably damaging |
Het |
Clspn |
A |
G |
4: 126,455,579 (GRCm39) |
D35G |
possibly damaging |
Het |
Cpsf3 |
T |
A |
12: 21,358,986 (GRCm39) |
M562K |
probably benign |
Het |
Cstdc1 |
G |
T |
2: 148,625,298 (GRCm39) |
L77F |
probably damaging |
Het |
Cyp2a22 |
T |
A |
7: 26,635,858 (GRCm39) |
Q235L |
probably damaging |
Het |
Dicer1 |
A |
G |
12: 104,669,410 (GRCm39) |
S1091P |
probably damaging |
Het |
Dync1li1 |
T |
A |
9: 114,544,297 (GRCm39) |
I323N |
probably damaging |
Het |
Fat4 |
A |
G |
3: 38,942,154 (GRCm39) |
N349S |
probably damaging |
Het |
Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
Hectd4 |
T |
C |
5: 121,448,666 (GRCm39) |
M338T |
probably benign |
Het |
Insyn2b |
G |
A |
11: 34,352,788 (GRCm39) |
E277K |
probably damaging |
Het |
Lactb2 |
A |
T |
1: 13,700,356 (GRCm39) |
I225N |
probably benign |
Het |
Ltbr |
G |
A |
6: 125,289,757 (GRCm39) |
R146W |
probably damaging |
Het |
Mrps30 |
A |
G |
13: 118,523,698 (GRCm39) |
S25P |
probably benign |
Het |
Myg1 |
T |
C |
15: 102,246,259 (GRCm39) |
V378A |
probably benign |
Het |
Notch4 |
C |
T |
17: 34,806,097 (GRCm39) |
T1731I |
probably damaging |
Het |
Ntmt1 |
A |
G |
2: 30,710,660 (GRCm39) |
D121G |
probably damaging |
Het |
Or10p21 |
C |
A |
10: 128,847,783 (GRCm39) |
P210T |
probably damaging |
Het |
Or5d39 |
A |
T |
2: 87,980,146 (GRCm39) |
D72E |
probably damaging |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Pclo |
A |
G |
5: 14,719,424 (GRCm39) |
D1187G |
unknown |
Het |
Pkd1 |
T |
A |
17: 24,784,047 (GRCm39) |
Y198N |
probably benign |
Het |
Plk4 |
T |
A |
3: 40,756,419 (GRCm39) |
N83K |
possibly damaging |
Het |
Prune2 |
A |
T |
19: 17,095,630 (GRCm39) |
Q378L |
probably damaging |
Het |
R3hdm4 |
C |
T |
10: 79,748,292 (GRCm39) |
E162K |
possibly damaging |
Het |
Rasa1 |
G |
T |
13: 85,436,674 (GRCm39) |
T118K |
possibly damaging |
Het |
Rin3 |
G |
A |
12: 102,292,093 (GRCm39) |
V97M |
probably damaging |
Het |
Rock2 |
T |
C |
12: 17,015,655 (GRCm39) |
|
probably null |
Het |
Slc34a1 |
A |
G |
13: 55,551,081 (GRCm39) |
I289V |
probably benign |
Het |
Slc34a1 |
T |
C |
13: 55,560,103 (GRCm39) |
L443P |
probably damaging |
Het |
Slco2a1 |
A |
T |
9: 102,947,462 (GRCm39) |
I254F |
probably damaging |
Het |
Spink11 |
T |
C |
18: 44,328,753 (GRCm39) |
I32V |
probably benign |
Het |
Spire1 |
T |
C |
18: 67,639,625 (GRCm39) |
E296G |
probably damaging |
Het |
Sun1 |
A |
G |
5: 139,220,498 (GRCm39) |
N410D |
probably damaging |
Het |
Syt14 |
T |
A |
1: 192,612,971 (GRCm39) |
T610S |
possibly damaging |
Het |
Tenm3 |
T |
C |
8: 48,740,866 (GRCm39) |
I1206V |
possibly damaging |
Het |
Tet3 |
A |
T |
6: 83,353,746 (GRCm39) |
|
probably null |
Het |
Thbs1 |
A |
T |
2: 117,953,147 (GRCm39) |
Q919L |
probably damaging |
Het |
Trappc10 |
A |
G |
10: 78,024,674 (GRCm39) |
F1152L |
possibly damaging |
Het |
Trp63 |
C |
A |
16: 25,682,468 (GRCm39) |
N176K |
probably damaging |
Het |
Zbtb17 |
A |
G |
4: 141,194,072 (GRCm39) |
E700G |
probably benign |
Het |
Zfp446 |
G |
A |
7: 12,711,984 (GRCm39) |
R69H |
probably benign |
Het |
Zfy2 |
C |
T |
Y: 2,106,555 (GRCm39) |
C693Y |
possibly damaging |
Het |
Zxdc |
A |
G |
6: 90,359,128 (GRCm39) |
T587A |
probably damaging |
Het |
Zyg11a |
A |
G |
4: 108,046,819 (GRCm39) |
C552R |
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 |
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'- TTGCTCTGGAGGTGCAGTAC -3'
(R):5'- GGTACCCTCTCTGTGAGTATTG -3'
Sequencing Primer
(F):5'- TGCAGTACATCAGCGTACCTG -3'
(R):5'- GTGAGTATTGCTTCACCATCCTGAAC -3'
|
Posted On |
2016-08-04 |