Incidental Mutation 'IGL02345:Casc3'
ID |
289257 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Casc3
|
Ensembl Gene |
ENSMUSG00000078676 |
Gene Name |
exon junction complex subunit |
Synonyms |
Mln51, Btz |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.946)
|
Stock # |
IGL02345
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
98700634-98724633 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 98718390 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130926
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017384]
[ENSMUST00000169695]
|
AlphaFold |
Q8K3W3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000017384
|
SMART Domains |
Protein: ENSMUSP00000017384 Gene: ENSMUSG00000078676
Domain | Start | End | E-Value | Type |
low complexity region
|
18 |
62 |
N/A |
INTRINSIC |
low complexity region
|
64 |
84 |
N/A |
INTRINSIC |
low complexity region
|
89 |
109 |
N/A |
INTRINSIC |
low complexity region
|
123 |
136 |
N/A |
INTRINSIC |
Btz
|
138 |
246 |
1.02e-57 |
SMART |
low complexity region
|
524 |
533 |
N/A |
INTRINSIC |
low complexity region
|
586 |
614 |
N/A |
INTRINSIC |
low complexity region
|
627 |
648 |
N/A |
INTRINSIC |
low complexity region
|
669 |
684 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169695
|
SMART Domains |
Protein: ENSMUSP00000130926 Gene: ENSMUSG00000078676
Domain | Start | End | E-Value | Type |
low complexity region
|
18 |
62 |
N/A |
INTRINSIC |
low complexity region
|
64 |
84 |
N/A |
INTRINSIC |
low complexity region
|
89 |
109 |
N/A |
INTRINSIC |
low complexity region
|
123 |
136 |
N/A |
INTRINSIC |
Btz
|
138 |
246 |
1.02e-57 |
SMART |
low complexity region
|
524 |
533 |
N/A |
INTRINSIC |
low complexity region
|
586 |
614 |
N/A |
INTRINSIC |
low complexity region
|
627 |
648 |
N/A |
INTRINSIC |
low complexity region
|
669 |
684 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is a core component of the exon junction complex (EJC), a protein complex that is deposited on spliced mRNAs at exon-exon junctions and functions in nonsense-mediated mRNA decay (NMD). The encoded protein binds RNA and interacts with two other EJC core components. It is predominantly located in the cytoplasm, but shuttles into the nucleus where it localizes to nuclear speckles. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygosity for a null or hypomorphic allele causes embryonic and postnatal lethality, respectively. Compound heterozygous embryos are smaller and exhibit proportionately reduced brain size with fewer neurons and progenitors, but no apoptosis, largely due to developmental delay. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc1 |
G |
T |
16: 14,214,215 (GRCm39) |
D177Y |
possibly damaging |
Het |
Catspere2 |
G |
A |
1: 177,842,754 (GRCm39) |
V60I |
possibly damaging |
Het |
Cnga1 |
C |
T |
5: 72,762,615 (GRCm39) |
V300I |
probably benign |
Het |
Dcun1d4 |
A |
G |
5: 73,668,495 (GRCm39) |
D41G |
probably damaging |
Het |
Dnm1l |
T |
C |
16: 16,147,758 (GRCm39) |
S181G |
possibly damaging |
Het |
Dyrk1a |
T |
G |
16: 94,472,221 (GRCm39) |
S242A |
possibly damaging |
Het |
Fcgbp |
T |
A |
7: 27,771,068 (GRCm39) |
|
probably benign |
Het |
Fibcd1 |
T |
C |
2: 31,706,604 (GRCm39) |
Y409C |
probably damaging |
Het |
Fig4 |
A |
T |
10: 41,143,770 (GRCm39) |
W230R |
probably null |
Het |
Flt1 |
T |
C |
5: 147,519,436 (GRCm39) |
S960G |
probably benign |
Het |
Fyb1 |
A |
G |
15: 6,649,143 (GRCm39) |
S390G |
possibly damaging |
Het |
Gbx2 |
T |
C |
1: 89,856,698 (GRCm39) |
T231A |
probably benign |
Het |
Gm5852 |
T |
A |
3: 93,635,055 (GRCm39) |
|
noncoding transcript |
Het |
Lmo7 |
T |
C |
14: 102,124,909 (GRCm39) |
V456A |
probably damaging |
Het |
Mark3 |
A |
G |
12: 111,593,541 (GRCm39) |
N191S |
probably damaging |
Het |
Or7h8 |
C |
A |
9: 20,124,314 (GRCm39) |
S223Y |
possibly damaging |
Het |
Pik3c2a |
C |
T |
7: 116,005,126 (GRCm39) |
E381K |
probably damaging |
Het |
Pik3r5 |
A |
G |
11: 68,383,552 (GRCm39) |
D457G |
probably benign |
Het |
Plcg2 |
T |
C |
8: 118,311,919 (GRCm39) |
S404P |
probably damaging |
Het |
Prr16 |
T |
C |
18: 51,436,301 (GRCm39) |
F260S |
probably damaging |
Het |
Psd4 |
T |
C |
2: 24,291,835 (GRCm39) |
|
probably null |
Het |
Ptgs1 |
A |
G |
2: 36,132,983 (GRCm39) |
D327G |
probably null |
Het |
Rgsl1 |
C |
T |
1: 153,679,755 (GRCm39) |
|
probably null |
Het |
Spart |
T |
A |
3: 55,025,147 (GRCm39) |
|
probably null |
Het |
Sugp1 |
A |
G |
8: 70,495,734 (GRCm39) |
|
probably benign |
Het |
Tubgcp3 |
A |
T |
8: 12,675,056 (GRCm39) |
I713N |
probably damaging |
Het |
Usp19 |
A |
G |
9: 108,371,057 (GRCm39) |
T240A |
probably benign |
Het |
Vash2 |
A |
G |
1: 190,710,412 (GRCm39) |
V81A |
probably benign |
Het |
Vmn2r41 |
T |
G |
7: 8,141,767 (GRCm39) |
N566H |
probably damaging |
Het |
Wdr31 |
A |
G |
4: 62,377,083 (GRCm39) |
I42T |
possibly damaging |
Het |
Zfp292 |
C |
T |
4: 34,809,244 (GRCm39) |
V1272I |
possibly damaging |
Het |
Zfp638 |
C |
T |
6: 83,961,857 (GRCm39) |
R1899C |
probably damaging |
Het |
|
Other mutations in Casc3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00484:Casc3
|
APN |
11 |
98,714,028 (GRCm39) |
missense |
possibly damaging |
0.62 |
IGL01566:Casc3
|
APN |
11 |
98,714,227 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01901:Casc3
|
APN |
11 |
98,713,947 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02875:Casc3
|
APN |
11 |
98,712,378 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02964:Casc3
|
APN |
11 |
98,719,749 (GRCm39) |
missense |
probably damaging |
0.96 |
R0147:Casc3
|
UTSW |
11 |
98,713,325 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0195:Casc3
|
UTSW |
11 |
98,712,319 (GRCm39) |
missense |
probably damaging |
0.99 |
R0763:Casc3
|
UTSW |
11 |
98,722,144 (GRCm39) |
missense |
probably damaging |
1.00 |
R1581:Casc3
|
UTSW |
11 |
98,713,644 (GRCm39) |
missense |
possibly damaging |
0.66 |
R2021:Casc3
|
UTSW |
11 |
98,712,332 (GRCm39) |
missense |
probably benign |
0.01 |
R4380:Casc3
|
UTSW |
11 |
98,713,857 (GRCm39) |
missense |
possibly damaging |
0.67 |
R4612:Casc3
|
UTSW |
11 |
98,713,784 (GRCm39) |
missense |
probably benign |
0.13 |
R4988:Casc3
|
UTSW |
11 |
98,712,700 (GRCm39) |
splice site |
probably null |
|
R5079:Casc3
|
UTSW |
11 |
98,701,252 (GRCm39) |
intron |
probably benign |
|
R5442:Casc3
|
UTSW |
11 |
98,712,297 (GRCm39) |
missense |
probably damaging |
0.99 |
R5511:Casc3
|
UTSW |
11 |
98,701,740 (GRCm39) |
nonsense |
probably null |
|
R5873:Casc3
|
UTSW |
11 |
98,712,270 (GRCm39) |
missense |
unknown |
|
R6041:Casc3
|
UTSW |
11 |
98,719,385 (GRCm39) |
missense |
probably damaging |
1.00 |
R6685:Casc3
|
UTSW |
11 |
98,713,356 (GRCm39) |
missense |
probably damaging |
0.99 |
R7030:Casc3
|
UTSW |
11 |
98,713,359 (GRCm39) |
missense |
possibly damaging |
0.74 |
R7107:Casc3
|
UTSW |
11 |
98,718,413 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7594:Casc3
|
UTSW |
11 |
98,712,311 (GRCm39) |
missense |
probably benign |
0.04 |
R7659:Casc3
|
UTSW |
11 |
98,700,699 (GRCm39) |
missense |
unknown |
|
R7660:Casc3
|
UTSW |
11 |
98,700,699 (GRCm39) |
missense |
unknown |
|
R8443:Casc3
|
UTSW |
11 |
98,713,607 (GRCm39) |
missense |
probably damaging |
1.00 |
R8444:Casc3
|
UTSW |
11 |
98,713,607 (GRCm39) |
missense |
probably damaging |
1.00 |
R8491:Casc3
|
UTSW |
11 |
98,713,977 (GRCm39) |
missense |
probably benign |
0.27 |
R8516:Casc3
|
UTSW |
11 |
98,713,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |