Incidental Mutation 'R0866:Isy1'
| ID |
82345 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Isy1
|
| Ensembl Gene |
ENSMUSG00000030056 |
| Gene Name |
ISY1 splicing factor homolog |
| Synonyms |
5830446M03Rik |
| MMRRC Submission |
039040-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.211)
|
| Stock # |
R0866 (G1)
|
| Quality Score |
215 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
87795429-87815723 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 87796094 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 281
(R281L)
|
| 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 benign
Transcript: ENSMUST00000089497
AA Change: R281L
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000086923
Gene: ENSMUSG00000030056
AA Change: R281L
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 96.5%
- 20x: 91.7%
|
| Validation Efficiency |
100% (44/44) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5430401F13Rik |
G |
T |
6: 131,529,742 (GRCm39) |
R112L |
unknown |
Het |
| Abcd4 |
G |
T |
12: 84,658,507 (GRCm39) |
A232E |
probably damaging |
Het |
| Acsm5 |
T |
A |
7: 119,140,123 (GRCm39) |
I508N |
probably damaging |
Het |
| Adam22 |
T |
C |
5: 8,132,156 (GRCm39) |
Q263R |
probably damaging |
Het |
| Ccdc88c |
A |
G |
12: 100,879,451 (GRCm39) |
L1890P |
probably benign |
Het |
| Ckap4 |
C |
T |
10: 84,363,384 (GRCm39) |
D560N |
probably damaging |
Het |
| Crb3 |
T |
A |
17: 57,369,743 (GRCm39) |
L17Q |
probably damaging |
Het |
| Fbxo21 |
G |
T |
5: 118,115,098 (GRCm39) |
R78L |
probably benign |
Het |
| Gapvd1 |
A |
T |
2: 34,599,229 (GRCm39) |
C669S |
probably damaging |
Het |
| Gria2 |
A |
T |
3: 80,629,331 (GRCm39) |
|
probably benign |
Het |
| H2-M11 |
T |
C |
17: 36,859,829 (GRCm39) |
L274P |
probably benign |
Het |
| Hmox1 |
A |
G |
8: 75,823,931 (GRCm39) |
T200A |
probably benign |
Het |
| Hspa8 |
G |
A |
9: 40,713,920 (GRCm39) |
|
probably null |
Het |
| Kiz |
C |
A |
2: 146,697,973 (GRCm39) |
|
probably benign |
Het |
| Lrig2 |
T |
C |
3: 104,371,591 (GRCm39) |
K704R |
probably benign |
Het |
| Lrp1 |
A |
T |
10: 127,375,147 (GRCm39) |
D4484E |
probably damaging |
Het |
| Lrrc7 |
C |
A |
3: 157,869,903 (GRCm39) |
|
probably benign |
Het |
| Mtmr14 |
T |
C |
6: 113,216,543 (GRCm39) |
|
probably null |
Het |
| Mtmr3 |
A |
T |
11: 4,438,474 (GRCm39) |
V660E |
probably benign |
Het |
| Mtor |
T |
C |
4: 148,570,513 (GRCm39) |
I1190T |
probably benign |
Het |
| Mtrf1l |
T |
C |
10: 5,763,376 (GRCm39) |
R318G |
probably damaging |
Het |
| Myh7 |
T |
C |
14: 55,210,596 (GRCm39) |
T1739A |
probably benign |
Het |
| Ofcc1 |
C |
T |
13: 40,362,305 (GRCm39) |
G206R |
probably benign |
Het |
| Or5h18 |
C |
T |
16: 58,847,791 (GRCm39) |
V160I |
probably benign |
Het |
| Pcca |
A |
G |
14: 123,126,957 (GRCm39) |
E722G |
possibly damaging |
Het |
| Pds5b |
T |
A |
5: 150,662,656 (GRCm39) |
|
probably benign |
Het |
| Ralgapa2 |
A |
T |
2: 146,277,923 (GRCm39) |
F413I |
probably damaging |
Het |
| Rbbp9 |
T |
C |
2: 144,392,628 (GRCm39) |
Y24C |
probably damaging |
Het |
| Rgs2 |
A |
G |
1: 143,877,988 (GRCm39) |
S103P |
probably damaging |
Het |
| Rtn1 |
G |
T |
12: 72,355,156 (GRCm39) |
Y263* |
probably null |
Het |
| Slc22a1 |
T |
C |
17: 12,875,933 (GRCm39) |
E427G |
probably benign |
Het |
| Speg |
A |
G |
1: 75,393,727 (GRCm39) |
T1695A |
probably damaging |
Het |
| Tlx3 |
C |
A |
11: 33,153,315 (GRCm39) |
G49W |
probably damaging |
Het |
| Tor1b |
A |
G |
2: 30,846,928 (GRCm39) |
M292V |
probably benign |
Het |
| Tspyl3 |
A |
T |
2: 153,066,854 (GRCm39) |
L128Q |
probably damaging |
Het |
| Zbtb14 |
C |
A |
17: 69,695,497 (GRCm39) |
F398L |
probably damaging |
Het |
| Zfc3h1 |
G |
A |
10: 115,263,621 (GRCm39) |
V1821I |
probably benign |
Het |
| Zfhx4 |
A |
T |
3: 5,477,272 (GRCm39) |
T3271S |
possibly damaging |
Het |
| Zfp386 |
G |
T |
12: 116,018,329 (GRCm39) |
|
probably benign |
Het |
| Zfp574 |
A |
T |
7: 24,779,323 (GRCm39) |
K115M |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCACACGGTAGCAAAGGCATC -3'
(R):5'- AAGTGGCTGGGTTCTTGCAGAC -3'
Sequencing Primer
(F):5'- GCGATGGCTACTAAAGCATTC -3'
(R):5'- AGACGTGCTGACCTTGTCC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation