Incidental Mutation 'PIT4354001:Isy1'
| ID |
554818 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Isy1
|
| Ensembl Gene |
ENSMUSG00000030056 |
| Gene Name |
ISY1 splicing factor homolog |
| Synonyms |
5830446M03Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.211)
|
| Stock # |
PIT4354001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
87795429-87815723 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 87810653 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 53
(I53T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086923
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089497]
[ENSMUST00000204419]
[ENSMUST00000204431]
[ENSMUST00000204881]
[ENSMUST00000205070]
|
| AlphaFold |
Q69ZQ2 |
| PDB Structure |
Solution structure of Isy1 domain in hypothetical protein [SOLUTION NMR]
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000089497
AA Change: I53T
PolyPhen 2
Score 0.677 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000086923
Gene: ENSMUSG00000030056
AA Change: I53T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Isy1
|
1 |
266 |
5.1e-101 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000204419
AA Change: I45T
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000144743
Gene: ENSMUSG00000107928
AA Change: I45T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Isy1
|
1 |
218 |
1.8e-83 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000204431
AA Change: I67T
PolyPhen 2
Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000145001
Gene: ENSMUSG00000030056
AA Change: I67T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Isy1
|
1 |
57 |
2.4e-17 |
PFAM |
|
Pfam:Isy1
|
50 |
95 |
2.7e-15 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000204881
AA Change: I53T
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000144710
Gene: ENSMUSG00000030056
AA Change: I53T
| 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 |
|
| Coding Region Coverage |
- 1x: 92.5%
- 3x: 90.1%
- 10x: 83.2%
- 20x: 69.0%
|
| Validation Efficiency |
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap2 |
A |
T |
5: 62,811,392 (GRCm39) |
Y1140N |
probably damaging |
Het |
| Ccdc83 |
A |
T |
7: 89,873,182 (GRCm39) |
M391K |
probably benign |
Het |
| Cntnap1 |
A |
T |
11: 101,072,123 (GRCm39) |
I459F |
probably damaging |
Het |
| Cr2 |
T |
A |
1: 194,848,617 (GRCm39) |
Y302F |
probably damaging |
Het |
| Ctu2 |
A |
T |
8: 123,205,714 (GRCm39) |
D179V |
probably damaging |
Het |
| Cubn |
G |
A |
2: 13,473,663 (GRCm39) |
Q427* |
probably null |
Het |
| Depdc7 |
A |
G |
2: 104,558,533 (GRCm39) |
S163P |
probably benign |
Het |
| Eif2s3y |
C |
T |
Y: 1,020,126 (GRCm39) |
R385C |
probably benign |
Het |
| Gigyf1 |
A |
G |
5: 137,522,366 (GRCm39) |
K728R |
unknown |
Het |
| Gm1587 |
G |
A |
14: 78,034,473 (GRCm39) |
R32* |
probably null |
Het |
| Hjv |
T |
C |
3: 96,435,761 (GRCm39) |
C340R |
probably damaging |
Het |
| Myh8 |
A |
T |
11: 67,180,456 (GRCm39) |
N564I |
probably benign |
Het |
| Neb |
A |
T |
2: 52,135,330 (GRCm39) |
I3260N |
probably damaging |
Het |
| Npc1 |
C |
T |
18: 12,344,592 (GRCm39) |
G426E |
probably benign |
Het |
| Nrdc |
G |
A |
4: 108,911,222 (GRCm39) |
|
probably null |
Het |
| Or2v1 |
G |
A |
11: 49,025,132 (GRCm39) |
V38M |
probably damaging |
Het |
| Or4c10b |
T |
A |
2: 89,711,852 (GRCm39) |
S227R |
probably benign |
Het |
| Or4c116 |
C |
A |
2: 88,942,830 (GRCm39) |
E9* |
probably null |
Het |
| Pate8 |
T |
A |
9: 36,492,597 (GRCm39) |
S103C |
possibly damaging |
Het |
| Prss51 |
T |
A |
14: 64,334,546 (GRCm39) |
V91D |
probably damaging |
Het |
| Qpct |
A |
C |
17: 79,389,188 (GRCm39) |
Y280S |
probably benign |
Het |
| Rbpms |
A |
G |
8: 34,296,866 (GRCm39) |
V137A |
possibly damaging |
Het |
| Rgl2 |
T |
A |
17: 34,152,914 (GRCm39) |
M441K |
possibly damaging |
Het |
| Sdhaf3 |
A |
T |
6: 6,956,072 (GRCm39) |
I16F |
possibly damaging |
Het |
| Slc38a3 |
T |
G |
9: 107,534,848 (GRCm39) |
N176H |
probably benign |
Het |
| Sos1 |
T |
C |
17: 80,756,785 (GRCm39) |
S256G |
possibly damaging |
Het |
| Spg11 |
A |
T |
2: 121,918,666 (GRCm39) |
C988S |
probably damaging |
Het |
| Sync |
A |
T |
4: 129,200,447 (GRCm39) |
Q451L |
possibly damaging |
Het |
| Tbc1d31 |
A |
G |
15: 57,831,329 (GRCm39) |
Y929C |
probably benign |
Het |
| Thbs2 |
G |
A |
17: 14,910,230 (GRCm39) |
T123I |
probably damaging |
Het |
| Thsd7a |
A |
C |
6: 12,331,926 (GRCm39) |
|
probably null |
Het |
| Tnfrsf11a |
T |
C |
1: 105,749,242 (GRCm39) |
L220P |
probably damaging |
Het |
| Trbv13-2 |
G |
A |
6: 41,098,752 (GRCm39) |
C109Y |
probably damaging |
Het |
| Ugt3a1 |
G |
A |
15: 9,306,446 (GRCm39) |
W198* |
probably null |
Het |
| Usp14 |
G |
A |
18: 9,996,189 (GRCm39) |
R464W |
probably damaging |
Het |
| Vmn1r2 |
C |
T |
4: 3,172,162 (GRCm39) |
S27L |
probably benign |
Het |
| Vmn1r68 |
T |
A |
7: 10,261,958 (GRCm39) |
N47Y |
probably benign |
Het |
| Zfc3h1 |
T |
A |
10: 115,262,944 (GRCm39) |
Y1719* |
probably null |
Het |
|
| Other mutations in Isy1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCTGACCCTGGGATCG -3'
(R):5'- AATAATGGCTCTGCTTGCTTCTT -3'
Sequencing Primer
(F):5'- CTGGGATCGCACGCACC -3'
(R):5'- CCTGGAACTCACTTTGTAGACTAGG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation