Incidental Mutation 'R2225:Cwc22'
ID |
239653 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cwc22
|
Ensembl Gene |
ENSMUSG00000027014 |
Gene Name |
CWC22 spliceosome-associated protein |
Synonyms |
|
MMRRC Submission |
040226-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2225 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
77711503-77776719 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 77738495 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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
|
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 benign
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 benign
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 benign
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 benign
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 |
noncoding transcript
Transcript: ENSMUST00000137494
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139842
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
Validation Efficiency |
100% (56/56) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abtb1 |
A |
C |
6: 88,813,349 (GRCm39) |
L439R |
probably damaging |
Het |
Adcy10 |
A |
G |
1: 165,345,829 (GRCm39) |
T293A |
probably damaging |
Het |
Aen |
C |
A |
7: 78,552,199 (GRCm39) |
T15K |
probably benign |
Het |
Aggf1 |
A |
G |
13: 95,507,354 (GRCm39) |
S144P |
probably damaging |
Het |
Akap9 |
A |
T |
5: 4,127,271 (GRCm39) |
R3706S |
probably damaging |
Het |
Btd |
A |
G |
14: 31,389,017 (GRCm39) |
D246G |
probably benign |
Het |
Ccdc33 |
A |
G |
9: 57,989,305 (GRCm39) |
S123P |
probably damaging |
Het |
Cep152 |
T |
C |
2: 125,423,704 (GRCm39) |
E899G |
probably damaging |
Het |
Cpsf6 |
A |
T |
10: 117,198,941 (GRCm39) |
|
probably benign |
Het |
Crybg3 |
A |
G |
16: 59,375,041 (GRCm39) |
I2071T |
probably damaging |
Het |
Ddah2 |
T |
A |
17: 35,279,187 (GRCm39) |
I16N |
probably damaging |
Het |
Dld |
T |
G |
12: 31,391,448 (GRCm39) |
M123L |
probably benign |
Het |
Eif5b |
A |
T |
1: 38,058,304 (GRCm39) |
K202I |
unknown |
Het |
Gm6430 |
T |
C |
1: 96,953,441 (GRCm39) |
|
noncoding transcript |
Het |
Hdac9 |
C |
T |
12: 34,457,801 (GRCm39) |
V251I |
probably benign |
Het |
Hoxa10 |
T |
C |
6: 52,209,616 (GRCm39) |
E52G |
probably damaging |
Het |
Hspa4 |
C |
T |
11: 53,177,760 (GRCm39) |
V117M |
probably benign |
Het |
Htra4 |
T |
C |
8: 25,515,736 (GRCm39) |
D434G |
probably benign |
Het |
Itgb3 |
A |
G |
11: 104,556,336 (GRCm39) |
M726V |
probably benign |
Het |
Itih1 |
A |
G |
14: 30,651,534 (GRCm39) |
V886A |
possibly damaging |
Het |
Kdm1b |
TCATTGTCC |
TCATTGTCCATTGTCC |
13: 47,217,564 (GRCm39) |
|
probably null |
Het |
Kpna1 |
G |
A |
16: 35,851,591 (GRCm39) |
A392T |
probably damaging |
Het |
Limk1 |
G |
T |
5: 134,690,410 (GRCm39) |
|
probably null |
Het |
Lonrf1 |
T |
C |
8: 36,703,252 (GRCm39) |
D308G |
probably damaging |
Het |
Muc4 |
A |
T |
16: 32,576,265 (GRCm39) |
|
probably benign |
Het |
Muc4 |
G |
A |
16: 32,587,316 (GRCm39) |
C2719Y |
possibly damaging |
Het |
Mvb12b |
G |
A |
2: 33,730,211 (GRCm39) |
T60I |
possibly damaging |
Het |
Myh2 |
C |
T |
11: 67,084,555 (GRCm39) |
T1698M |
probably benign |
Het |
Naalad2 |
A |
T |
9: 18,287,829 (GRCm39) |
V267E |
possibly damaging |
Het |
Nkpd1 |
A |
T |
7: 19,253,745 (GRCm39) |
Y37F |
probably benign |
Het |
Or10d5 |
T |
C |
9: 39,861,833 (GRCm39) |
K78R |
possibly damaging |
Het |
Or2l5 |
T |
C |
16: 19,333,996 (GRCm39) |
H130R |
probably benign |
Het |
Or8g33 |
T |
C |
9: 39,337,915 (GRCm39) |
I151V |
probably benign |
Het |
Plekhg2 |
G |
A |
7: 28,059,760 (GRCm39) |
P1190S |
probably benign |
Het |
Reck |
A |
G |
4: 43,922,837 (GRCm39) |
T371A |
probably benign |
Het |
Rnf185 |
T |
C |
11: 3,382,445 (GRCm39) |
D44G |
probably damaging |
Het |
Rpgrip1l |
T |
C |
8: 91,948,095 (GRCm39) |
E1196G |
probably benign |
Het |
Rundc1 |
A |
G |
11: 101,322,170 (GRCm39) |
|
probably benign |
Het |
Sf3b3 |
T |
C |
8: 111,541,205 (GRCm39) |
Y970C |
probably damaging |
Het |
Sfxn1 |
A |
G |
13: 54,239,536 (GRCm39) |
T20A |
possibly damaging |
Het |
Shprh |
T |
C |
10: 11,037,979 (GRCm39) |
|
probably benign |
Het |
Spata31d1a |
T |
A |
13: 59,851,529 (GRCm39) |
I200L |
probably benign |
Het |
Srsf6 |
G |
A |
2: 162,773,619 (GRCm39) |
S10N |
probably damaging |
Het |
Tbxa2r |
A |
G |
10: 81,168,983 (GRCm39) |
Y224C |
probably benign |
Het |
Tlr5 |
A |
G |
1: 182,799,941 (GRCm39) |
|
probably benign |
Het |
Tmem270 |
A |
G |
5: 134,935,492 (GRCm39) |
L21P |
probably damaging |
Het |
Tmtc2 |
T |
C |
10: 105,206,218 (GRCm39) |
E359G |
probably benign |
Het |
Tnn |
A |
T |
1: 159,975,035 (GRCm39) |
C131S |
probably damaging |
Het |
Tnnt2 |
A |
G |
1: 135,771,529 (GRCm39) |
|
probably benign |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Tph1 |
A |
G |
7: 46,314,598 (GRCm39) |
|
probably null |
Het |
Wiz |
C |
T |
17: 32,575,899 (GRCm39) |
V836M |
probably damaging |
Het |
Zfp451 |
T |
A |
1: 33,809,988 (GRCm39) |
|
probably benign |
Het |
Zfp738 |
A |
G |
13: 67,818,431 (GRCm39) |
F520S |
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 |
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'- AGAGAACAATGTGCTCCCAGG -3'
(R):5'- AGGTGATATCAGCCAGTCTAAAGG -3'
Sequencing Primer
(F):5'- TGTGCTCCCAGGGTAAAAAC -3'
(R):5'- CCAGTCTAAAGGCTTTTTAAAAGTG -3'
|
Posted On |
2014-10-15 |