Incidental Mutation 'R0105:Isy1'
ID |
17631 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Isy1
|
Ensembl Gene |
ENSMUSG00000030056 |
Gene Name |
ISY1 splicing factor homolog |
Synonyms |
5830446M03Rik |
MMRRC Submission |
038391-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.211)
|
Stock # |
R0105 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
87795429-87815723 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 87796167 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Tryptophan
at position 257
(R257W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000086923
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089497]
[ENSMUST00000204419]
[ENSMUST00000204881]
[ENSMUST00000205070]
|
AlphaFold |
Q69ZQ2 |
PDB Structure |
Solution structure of Isy1 domain in hypothetical protein [SOLUTION NMR]
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000089497
AA Change: R257W
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000086923 Gene: ENSMUSG00000030056 AA Change: R257W
Domain | Start | End | E-Value | Type |
Pfam:Isy1
|
1 |
266 |
5.1e-101 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203429
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204169
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204419
|
SMART Domains |
Protein: ENSMUSP00000144743 Gene: ENSMUSG00000107928
Domain | Start | End | E-Value | Type |
Pfam:Isy1
|
1 |
218 |
1.8e-83 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204881
|
SMART Domains |
Protein: ENSMUSP00000144710 Gene: ENSMUSG00000030056
Domain | Start | End | E-Value | Type |
Pfam:Isy1
|
1 |
124 |
6.8e-51 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205070
|
SMART Domains |
Protein: ENSMUSP00000144956 Gene: ENSMUSG00000030056
Domain | Start | End | E-Value | Type |
Pfam:Isy1
|
1 |
50 |
8.1e-17 |
PFAM |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 85.3%
- 3x: 77.7%
- 10x: 47.9%
- 20x: 15.1%
|
Validation Efficiency |
96% (53/55) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus represents naturally occurring read-through transcription between the neighboring ISY1 (ISY1 splicing factor homolog) and RAB43 (RAB43, member RAS oncogene family) gene on chromosome 3. The read-through transcript encodes a protein that shares sequence identity with the upstream gene product, but its C-terminus is distinct due to a frameshift relative to the downstream gene. [provided by RefSeq, Mar 2011]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A530053G22Rik |
T |
C |
6: 60,379,137 (GRCm39) |
|
noncoding transcript |
Het |
Adcy9 |
A |
G |
16: 4,106,252 (GRCm39) |
V954A |
probably damaging |
Het |
Aldh8a1 |
T |
A |
10: 21,271,438 (GRCm39) |
M388K |
probably damaging |
Het |
Cdsn |
A |
C |
17: 35,867,035 (GRCm39) |
R521S |
possibly damaging |
Het |
Cog3 |
A |
G |
14: 75,959,580 (GRCm39) |
S591P |
probably damaging |
Het |
Cplane1 |
T |
A |
15: 8,216,876 (GRCm39) |
V698D |
probably benign |
Het |
Crmp1 |
T |
A |
5: 37,441,479 (GRCm39) |
D520E |
probably damaging |
Het |
Ddhd1 |
T |
C |
14: 45,848,147 (GRCm39) |
D507G |
probably benign |
Het |
Dnah6 |
C |
T |
6: 73,132,262 (GRCm39) |
A1147T |
probably damaging |
Het |
Dsg2 |
T |
C |
18: 20,735,111 (GRCm39) |
S1030P |
probably benign |
Het |
Fam20b |
T |
C |
1: 156,518,140 (GRCm39) |
E218G |
probably damaging |
Het |
Gab2 |
T |
C |
7: 96,948,279 (GRCm39) |
Y290H |
probably damaging |
Het |
Gm973 |
A |
G |
1: 59,621,633 (GRCm39) |
Q591R |
probably null |
Het |
Gsdmc2 |
T |
C |
15: 63,700,026 (GRCm39) |
T249A |
probably benign |
Het |
Il15ra |
T |
A |
2: 11,735,459 (GRCm39) |
|
probably null |
Het |
Krt76 |
T |
C |
15: 101,793,347 (GRCm39) |
T564A |
unknown |
Het |
Lrrk1 |
G |
T |
7: 65,942,089 (GRCm39) |
D716E |
probably damaging |
Het |
Mogat1 |
A |
G |
1: 78,500,307 (GRCm39) |
T124A |
probably benign |
Het |
Mroh7 |
T |
C |
4: 106,568,467 (GRCm39) |
T48A |
possibly damaging |
Het |
Or4a71 |
T |
C |
2: 89,358,707 (GRCm39) |
T16A |
probably benign |
Het |
Pkhd1 |
G |
A |
1: 20,593,956 (GRCm39) |
Q1386* |
probably null |
Het |
Pla2r1 |
T |
C |
2: 60,345,325 (GRCm39) |
R344G |
possibly damaging |
Het |
Plekhg4 |
G |
A |
8: 106,108,644 (GRCm39) |
V1202M |
possibly damaging |
Het |
Ppil4 |
A |
G |
10: 7,674,210 (GRCm39) |
Y118C |
probably damaging |
Het |
Ptpn4 |
C |
T |
1: 119,615,335 (GRCm39) |
|
probably null |
Het |
Reln |
G |
A |
5: 22,253,813 (GRCm39) |
R600W |
probably damaging |
Het |
Sumf2 |
T |
A |
5: 129,878,735 (GRCm39) |
|
probably benign |
Het |
Tex10 |
C |
A |
4: 48,468,957 (GRCm39) |
V73F |
probably damaging |
Het |
Tgm5 |
C |
A |
2: 120,907,493 (GRCm39) |
G77W |
probably damaging |
Het |
Tnfrsf21 |
T |
A |
17: 43,351,082 (GRCm39) |
|
probably null |
Het |
Treml2 |
C |
T |
17: 48,609,856 (GRCm39) |
T96I |
probably damaging |
Het |
Zcchc17 |
T |
A |
4: 130,243,099 (GRCm39) |
D28V |
probably benign |
Het |
Zkscan6 |
T |
A |
11: 65,712,811 (GRCm39) |
L248Q |
probably damaging |
Het |
|
Other mutations in Isy1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
PIT4354001:Isy1
|
UTSW |
6 |
87,810,653 (GRCm39) |
missense |
possibly damaging |
0.68 |
R0105:Isy1
|
UTSW |
6 |
87,796,167 (GRCm39) |
missense |
probably damaging |
1.00 |
R0106:Isy1
|
UTSW |
6 |
87,796,167 (GRCm39) |
missense |
probably damaging |
1.00 |
R0106:Isy1
|
UTSW |
6 |
87,796,167 (GRCm39) |
missense |
probably damaging |
1.00 |
R0363:Isy1
|
UTSW |
6 |
87,796,167 (GRCm39) |
missense |
probably damaging |
1.00 |
R0718:Isy1
|
UTSW |
6 |
87,796,158 (GRCm39) |
missense |
probably damaging |
1.00 |
R0866:Isy1
|
UTSW |
6 |
87,796,094 (GRCm39) |
missense |
probably benign |
0.04 |
R0926:Isy1
|
UTSW |
6 |
87,796,125 (GRCm39) |
missense |
probably benign |
|
R1674:Isy1
|
UTSW |
6 |
87,811,469 (GRCm39) |
missense |
probably damaging |
1.00 |
R3783:Isy1
|
UTSW |
6 |
87,798,527 (GRCm39) |
missense |
possibly damaging |
0.70 |
R7320:Isy1
|
UTSW |
6 |
87,810,688 (GRCm39) |
missense |
unknown |
|
R8930:Isy1
|
UTSW |
6 |
87,798,513 (GRCm39) |
missense |
probably damaging |
0.99 |
R8932:Isy1
|
UTSW |
6 |
87,798,513 (GRCm39) |
missense |
probably damaging |
0.99 |
R9710:Isy1
|
UTSW |
6 |
87,796,574 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Posted On |
2013-01-31 |