Incidental Mutation 'IGL01901:Casc3'
| ID |
179527 |
| 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: 0.954)
|
| Stock # |
IGL01901
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
98700634-98724633 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 98713947 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 393
(D393G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130926
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017384]
[ENSMUST00000169695]
|
| AlphaFold |
Q8K3W3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000017384
AA Change: D393G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000017384
Gene: ENSMUSG00000078676
AA Change: D393G
| 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 |
noncoding transcript
Transcript: ENSMUST00000147065
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169695
AA Change: D393G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000130926
Gene: ENSMUSG00000078676
AA Change: D393G
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam2 |
A |
G |
14: 66,272,678 (GRCm39) |
|
probably benign |
Het |
| Aldh1a7 |
T |
G |
19: 20,695,103 (GRCm39) |
Y154S |
probably damaging |
Het |
| Cd180 |
A |
G |
13: 102,842,936 (GRCm39) |
I661V |
probably benign |
Het |
| Cdh1 |
T |
C |
8: 107,384,392 (GRCm39) |
S287P |
probably damaging |
Het |
| Clnk |
T |
C |
5: 38,952,321 (GRCm39) |
N6S |
probably damaging |
Het |
| Cstdc6 |
C |
A |
16: 36,154,625 (GRCm39) |
A11S |
probably damaging |
Het |
| Cyp17a1 |
C |
T |
19: 46,659,531 (GRCm39) |
V100M |
possibly damaging |
Het |
| Ddhd2 |
A |
G |
8: 26,238,621 (GRCm39) |
V53A |
probably damaging |
Het |
| Elovl7 |
T |
A |
13: 108,410,927 (GRCm39) |
|
probably null |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm14180 |
A |
G |
11: 99,625,053 (GRCm39) |
S22P |
unknown |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Golga5 |
G |
A |
12: 102,446,061 (GRCm39) |
|
probably null |
Het |
| Gpr162 |
A |
T |
6: 124,838,370 (GRCm39) |
F93L |
possibly damaging |
Het |
| Kcnh8 |
G |
A |
17: 53,201,148 (GRCm39) |
|
probably benign |
Het |
| Lamp3 |
A |
T |
16: 19,492,169 (GRCm39) |
F358L |
probably damaging |
Het |
| Mdn1 |
T |
G |
4: 32,669,591 (GRCm39) |
D409E |
probably damaging |
Het |
| Ms4a10 |
T |
C |
19: 10,940,374 (GRCm39) |
D211G |
probably benign |
Het |
| Ms4a3 |
T |
C |
19: 11,616,630 (GRCm39) |
E4G |
possibly damaging |
Het |
| Myo15a |
A |
G |
11: 60,418,260 (GRCm39) |
|
probably benign |
Het |
| Or2ag16 |
A |
G |
7: 106,351,752 (GRCm39) |
V281A |
possibly damaging |
Het |
| Or4c10b |
A |
G |
2: 89,711,826 (GRCm39) |
I219V |
probably damaging |
Het |
| Or51aa2 |
A |
T |
7: 103,188,177 (GRCm39) |
L88Q |
probably damaging |
Het |
| Or51q1c |
A |
G |
7: 103,653,274 (GRCm39) |
H264R |
probably damaging |
Het |
| Or5b12 |
T |
C |
19: 12,896,947 (GRCm39) |
H242R |
probably damaging |
Het |
| Or6c217 |
A |
G |
10: 129,737,722 (GRCm39) |
F286L |
probably benign |
Het |
| Penk |
T |
C |
4: 4,134,465 (GRCm39) |
I61V |
probably benign |
Het |
| Pkhd1 |
T |
A |
1: 20,290,307 (GRCm39) |
K2860N |
probably benign |
Het |
| Prtg |
C |
T |
9: 72,762,348 (GRCm39) |
P492S |
probably damaging |
Het |
| Spata31e2 |
A |
G |
1: 26,721,665 (GRCm39) |
F1172L |
probably benign |
Het |
| Tdrd7 |
T |
C |
4: 45,989,225 (GRCm39) |
|
probably benign |
Het |
| Terf2ip |
A |
G |
8: 112,738,700 (GRCm39) |
N196S |
probably benign |
Het |
| Tgtp1 |
T |
C |
11: 48,878,382 (GRCm39) |
N108D |
possibly damaging |
Het |
| Thumpd3 |
A |
G |
6: 113,036,932 (GRCm39) |
H277R |
probably benign |
Het |
| Tshz2 |
T |
A |
2: 169,727,456 (GRCm39) |
L215Q |
possibly damaging |
Het |
| Ube3c |
T |
A |
5: 29,873,005 (GRCm39) |
V1015E |
probably damaging |
Het |
| Utrn |
T |
A |
10: 12,516,672 (GRCm39) |
K2307N |
probably damaging |
Het |
| Vmn1r75 |
A |
G |
7: 11,614,739 (GRCm39) |
Y157C |
probably damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
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 |
|
|
IGL02345:Casc3
|
APN |
11 |
98,718,390 (GRCm39) |
splice site |
probably benign |
|
|
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 |
2014-05-07 |
Incidental Mutation