Incidental Mutation 'R6685:Casc3'
| ID |
527656 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Casc3
|
| Ensembl Gene |
ENSMUSG00000078676 |
| Gene Name |
exon junction complex subunit |
| Synonyms |
Mln51, Btz |
| MMRRC Submission |
044804-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.946)
|
| Stock # |
R6685 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
98700634-98724633 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 98713356 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 257
(K257E)
|
| 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: K257E
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000017384
Gene: ENSMUSG00000078676
AA Change: K257E
| 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: K257E
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000130926
Gene: ENSMUSG00000078676
AA Change: K257E
| 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 |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.3%
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox1 |
G |
T |
11: 116,071,174 (GRCm39) |
Y203* |
probably null |
Het |
| Adcy5 |
A |
G |
16: 35,099,586 (GRCm39) |
N712S |
possibly damaging |
Het |
| Adgrb3 |
G |
A |
1: 25,150,817 (GRCm39) |
Q1139* |
probably null |
Het |
| Ccn5 |
A |
G |
2: 163,670,868 (GRCm39) |
D125G |
possibly damaging |
Het |
| Cttnbp2nl |
G |
T |
3: 104,912,814 (GRCm39) |
Q357K |
probably benign |
Het |
| Dcst1 |
A |
C |
3: 89,264,180 (GRCm39) |
V345G |
possibly damaging |
Het |
| Dsg3 |
G |
A |
18: 20,653,672 (GRCm39) |
|
probably null |
Het |
| Ehbp1 |
A |
G |
11: 22,096,641 (GRCm39) |
C308R |
probably benign |
Het |
| Etaa1 |
G |
T |
11: 17,903,582 (GRCm39) |
D71E |
probably benign |
Het |
| Flg |
T |
C |
3: 93,186,716 (GRCm39) |
V56A |
possibly damaging |
Het |
| Gpr162 |
A |
G |
6: 124,838,494 (GRCm39) |
L52P |
probably damaging |
Het |
| Inhbb |
A |
G |
1: 119,345,335 (GRCm39) |
L318P |
probably damaging |
Het |
| Lkaaear1 |
TCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAG |
TCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAG |
2: 181,339,354 (GRCm39) |
|
probably benign |
Het |
| Mcm8 |
G |
A |
2: 132,684,570 (GRCm39) |
R728Q |
probably damaging |
Het |
| Metap1 |
A |
T |
3: 138,184,595 (GRCm39) |
F126I |
possibly damaging |
Het |
| Or51a6 |
T |
C |
7: 102,604,888 (GRCm39) |
|
probably null |
Het |
| Peg10 |
T |
A |
6: 4,754,738 (GRCm39) |
V173E |
probably damaging |
Het |
| Poteg |
T |
A |
8: 27,937,933 (GRCm39) |
F30I |
possibly damaging |
Het |
| Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Homo |
| Sh3rf3 |
C |
T |
10: 58,922,663 (GRCm39) |
L580F |
possibly damaging |
Het |
| Slc26a7 |
C |
A |
4: 14,593,819 (GRCm39) |
V99F |
probably damaging |
Het |
| Slc26a7 |
A |
T |
4: 14,593,820 (GRCm39) |
H98Q |
probably damaging |
Het |
| Slc9a2 |
A |
T |
1: 40,758,069 (GRCm39) |
I203F |
probably damaging |
Het |
| Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
| Txnrd3 |
G |
A |
6: 89,646,897 (GRCm39) |
V347I |
possibly damaging |
Het |
| Zfp42 |
G |
A |
8: 43,749,093 (GRCm39) |
T136M |
possibly 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGCTTGGTTTGGTCCAGAC -3'
(R):5'- TCTCTTTGTGGGGAACTTCCAAATC -3'
Sequencing Primer
(F):5'- TCCAGACCCAAGGGACG -3'
(R):5'- TGTGGGGAACTTCCAAATCTGAAAC -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation