Incidental Mutation 'R6148:Cwc22'
| ID |
488995 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cwc22
|
| Ensembl Gene |
ENSMUSG00000027014 |
| Gene Name |
CWC22 spliceosome-associated protein |
| Synonyms |
|
| MMRRC Submission |
044295-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6148 (G1)
|
| Quality Score |
112.467 |
|
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: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.6%
|
| Validation Efficiency |
95% (61/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
A |
12: 71,234,200 (GRCm39) |
C1067S |
possibly damaging |
Het |
| AAdacl4fm3 |
T |
C |
4: 144,447,887 (GRCm39) |
T30A |
possibly damaging |
Het |
| Agbl3 |
T |
A |
6: 34,834,688 (GRCm39) |
S952R |
possibly damaging |
Het |
| Ano9 |
A |
G |
7: 140,686,698 (GRCm39) |
Y429H |
probably damaging |
Het |
| Bbs7 |
C |
A |
3: 36,667,415 (GRCm39) |
R7L |
probably damaging |
Het |
| Birc2 |
T |
A |
9: 7,849,684 (GRCm39) |
D535V |
possibly damaging |
Het |
| Catsper4 |
A |
G |
4: 133,945,240 (GRCm39) |
V206A |
probably damaging |
Het |
| Ccdc73 |
T |
G |
2: 104,822,482 (GRCm39) |
S810R |
possibly damaging |
Het |
| Cd177 |
A |
T |
7: 24,443,698 (GRCm39) |
L800* |
probably null |
Het |
| Cd34 |
T |
C |
1: 194,630,316 (GRCm39) |
|
probably null |
Het |
| Cep78 |
G |
A |
19: 15,959,150 (GRCm39) |
R95* |
probably null |
Het |
| Cfap69 |
T |
C |
5: 5,713,996 (GRCm39) |
D12G |
probably benign |
Het |
| Cpne7 |
A |
G |
8: 123,854,171 (GRCm39) |
D286G |
probably benign |
Het |
| Cxcl5 |
A |
T |
5: 90,907,565 (GRCm39) |
I46L |
probably benign |
Het |
| Cyp19a1 |
C |
T |
9: 54,087,540 (GRCm39) |
G59D |
probably damaging |
Het |
| Dclre1c |
A |
G |
2: 3,438,742 (GRCm39) |
D35G |
probably damaging |
Het |
| Defa41 |
A |
G |
8: 21,692,428 (GRCm39) |
N83S |
probably benign |
Het |
| Dvl1 |
A |
G |
4: 155,939,409 (GRCm39) |
Y279C |
probably damaging |
Het |
| Fes |
A |
G |
7: 80,030,044 (GRCm39) |
L578P |
probably damaging |
Het |
| Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
| Fmn2 |
T |
C |
1: 174,494,229 (GRCm39) |
S1248P |
probably damaging |
Het |
| Fmo1 |
T |
G |
1: 162,679,088 (GRCm39) |
S53R |
probably damaging |
Het |
| Gabrg1 |
A |
T |
5: 70,931,804 (GRCm39) |
M313K |
probably damaging |
Het |
| Galnt10 |
T |
C |
11: 57,675,474 (GRCm39) |
C578R |
probably damaging |
Het |
| Gpr39 |
T |
C |
1: 125,800,323 (GRCm39) |
V358A |
probably damaging |
Het |
| Gsap |
A |
G |
5: 21,431,323 (GRCm39) |
R216G |
probably damaging |
Het |
| Gsap |
A |
T |
5: 21,475,575 (GRCm39) |
T570S |
probably benign |
Het |
| Gucy2d |
A |
T |
7: 98,093,030 (GRCm39) |
I136L |
probably benign |
Het |
| Hap1 |
A |
T |
11: 100,240,218 (GRCm39) |
V294E |
probably damaging |
Het |
| Ipo8 |
A |
G |
6: 148,701,278 (GRCm39) |
V514A |
probably damaging |
Het |
| Irf5 |
T |
C |
6: 29,535,958 (GRCm39) |
L324P |
probably damaging |
Het |
| Itsn1 |
C |
T |
16: 91,613,740 (GRCm39) |
R251C |
probably damaging |
Het |
| Klf11 |
T |
C |
12: 24,701,567 (GRCm39) |
|
probably null |
Het |
| Kpna6 |
G |
A |
4: 129,543,099 (GRCm39) |
Q439* |
probably null |
Het |
| Mark4 |
A |
T |
7: 19,163,441 (GRCm39) |
S563T |
probably benign |
Het |
| Mrpl21 |
A |
T |
19: 3,333,084 (GRCm39) |
I5L |
probably benign |
Het |
| Muc4 |
T |
C |
16: 32,753,802 (GRCm38) |
I1226T |
probably benign |
Het |
| Myrf |
G |
A |
19: 10,189,839 (GRCm39) |
T815I |
probably damaging |
Het |
| Olfr515-ps1 |
A |
T |
7: 108,444,178 (GRCm39) |
|
probably null |
Het |
| Or10d4c |
G |
T |
9: 39,558,555 (GRCm39) |
D178Y |
probably damaging |
Het |
| Or11g27 |
A |
G |
14: 50,771,778 (GRCm39) |
N303S |
probably benign |
Het |
| Or4c15 |
C |
T |
2: 88,760,597 (GRCm39) |
V21I |
probably benign |
Het |
| Or52n3 |
A |
G |
7: 104,530,289 (GRCm39) |
Y125C |
possibly damaging |
Het |
| Os9 |
T |
C |
10: 126,935,812 (GRCm39) |
D280G |
probably benign |
Het |
| Pcdhb14 |
A |
G |
18: 37,582,283 (GRCm39) |
N463S |
probably damaging |
Het |
| Pex19 |
G |
A |
1: 171,961,606 (GRCm39) |
E271K |
probably damaging |
Het |
| Ppdpf |
G |
A |
2: 180,829,641 (GRCm39) |
S32N |
probably benign |
Het |
| Prdm2 |
A |
G |
4: 142,859,477 (GRCm39) |
I1271T |
probably benign |
Het |
| Rbbp4 |
T |
C |
4: 129,215,751 (GRCm39) |
T262A |
probably benign |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Spaca9 |
G |
A |
2: 28,583,793 (GRCm39) |
R64W |
probably damaging |
Het |
| Sult1e1 |
A |
T |
5: 87,727,770 (GRCm39) |
S171T |
probably damaging |
Het |
| Tns1 |
T |
C |
1: 73,992,612 (GRCm39) |
T689A |
probably damaging |
Het |
| Unc13c |
G |
C |
9: 73,600,648 (GRCm39) |
N1365K |
probably benign |
Het |
| Vmn2r52 |
T |
C |
7: 9,905,090 (GRCm39) |
I250V |
probably benign |
Het |
| Vmn2r55 |
C |
A |
7: 12,402,069 (GRCm39) |
L406F |
probably benign |
Het |
| Wdcp |
T |
C |
12: 4,900,621 (GRCm39) |
V159A |
possibly damaging |
Het |
| Zbtb3 |
C |
T |
19: 8,781,560 (GRCm39) |
A391V |
probably benign |
Het |
| Znhit1 |
A |
T |
5: 137,011,487 (GRCm39) |
S109T |
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 |
|
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'- GAGGTGCAGTACATCAGCGTAC -3'
(R):5'- TGAGTCAGGTACCCTCTCTGTG -3'
Sequencing Primer
(F):5'- AGTACATCAGCGTACCTGCTTTTATC -3'
(R):5'- GTGAGTATTGCTTCACCATCCTGAAC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation