Incidental Mutation 'IGL02288:Spindoc'
ID |
290006 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Spindoc
|
Ensembl Gene |
ENSMUSG00000024970 |
Gene Name |
spindlin interactor and repressor of chromatin binding |
Synonyms |
AI846148 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.149)
|
Stock # |
IGL02288
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
7331443-7360359 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 7335667 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 374
(Q374*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025924
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025924]
|
AlphaFold |
Q05AH6 |
Predicted Effect |
probably null
Transcript: ENSMUST00000025924
AA Change: Q374*
|
SMART Domains |
Protein: ENSMUSP00000025924 Gene: ENSMUSG00000024970 AA Change: Q374*
Domain | Start | End | E-Value | Type |
low complexity region
|
21 |
34 |
N/A |
INTRINSIC |
Blast:ZnF_C2H2
|
91 |
115 |
1e-6 |
BLAST |
low complexity region
|
186 |
203 |
N/A |
INTRINSIC |
low complexity region
|
243 |
256 |
N/A |
INTRINSIC |
low complexity region
|
304 |
315 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arid1b |
A |
G |
17: 5,314,315 (GRCm39) |
M706V |
possibly damaging |
Het |
Clec1b |
T |
A |
6: 129,374,586 (GRCm39) |
D3E |
probably damaging |
Het |
Dqx1 |
A |
G |
6: 83,037,309 (GRCm39) |
H324R |
probably damaging |
Het |
Ep400 |
A |
G |
5: 110,831,702 (GRCm39) |
|
probably benign |
Het |
Ewsr1 |
T |
C |
11: 5,043,689 (GRCm39) |
T32A |
possibly damaging |
Het |
Exoc1 |
C |
A |
5: 76,693,160 (GRCm39) |
H349N |
probably benign |
Het |
Fgg |
T |
C |
3: 82,915,460 (GRCm39) |
Y26H |
probably benign |
Het |
Gpld1 |
T |
A |
13: 25,163,666 (GRCm39) |
Y41* |
probably null |
Het |
Gpr152 |
A |
G |
19: 4,193,694 (GRCm39) |
M412V |
probably benign |
Het |
Matn2 |
T |
A |
15: 34,422,532 (GRCm39) |
C540S |
probably damaging |
Het |
Nars1 |
T |
C |
18: 64,643,606 (GRCm39) |
|
probably benign |
Het |
Ncor1 |
A |
G |
11: 62,240,229 (GRCm39) |
I914T |
probably benign |
Het |
Or1e33 |
A |
G |
11: 73,738,207 (GRCm39) |
V248A |
possibly damaging |
Het |
Or4k42 |
A |
T |
2: 111,320,065 (GRCm39) |
F146Y |
probably benign |
Het |
Rev3l |
T |
C |
10: 39,704,212 (GRCm39) |
L2086P |
probably benign |
Het |
Snrnp200 |
T |
A |
2: 127,071,815 (GRCm39) |
I1165N |
probably damaging |
Het |
Thsd1 |
A |
C |
8: 22,749,565 (GRCm39) |
D751A |
probably damaging |
Het |
Ttll4 |
G |
A |
1: 74,718,560 (GRCm39) |
R137H |
probably benign |
Het |
Vmn2r70 |
T |
A |
7: 85,214,342 (GRCm39) |
Y270F |
probably benign |
Het |
Zscan20 |
A |
G |
4: 128,480,436 (GRCm39) |
I685T |
probably damaging |
Het |
|
Other mutations in Spindoc |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01924:Spindoc
|
APN |
19 |
7,360,042 (GRCm39) |
missense |
probably damaging |
1.00 |
R0513:Spindoc
|
UTSW |
19 |
7,351,509 (GRCm39) |
missense |
probably benign |
|
R0831:Spindoc
|
UTSW |
19 |
7,352,100 (GRCm39) |
missense |
probably benign |
0.45 |
R1444:Spindoc
|
UTSW |
19 |
7,360,086 (GRCm39) |
missense |
probably benign |
|
R1636:Spindoc
|
UTSW |
19 |
7,351,922 (GRCm39) |
missense |
probably damaging |
1.00 |
R3732:Spindoc
|
UTSW |
19 |
7,351,666 (GRCm39) |
missense |
probably damaging |
1.00 |
R3732:Spindoc
|
UTSW |
19 |
7,351,666 (GRCm39) |
missense |
probably damaging |
1.00 |
R3733:Spindoc
|
UTSW |
19 |
7,351,666 (GRCm39) |
missense |
probably damaging |
1.00 |
R4365:Spindoc
|
UTSW |
19 |
7,351,219 (GRCm39) |
missense |
possibly damaging |
0.56 |
R4785:Spindoc
|
UTSW |
19 |
7,351,456 (GRCm39) |
missense |
probably benign |
|
R5227:Spindoc
|
UTSW |
19 |
7,351,512 (GRCm39) |
missense |
probably benign |
0.00 |
R5982:Spindoc
|
UTSW |
19 |
7,351,960 (GRCm39) |
missense |
probably damaging |
1.00 |
R5987:Spindoc
|
UTSW |
19 |
7,351,024 (GRCm39) |
missense |
probably benign |
0.19 |
R6538:Spindoc
|
UTSW |
19 |
7,360,064 (GRCm39) |
missense |
probably benign |
0.17 |
R6718:Spindoc
|
UTSW |
19 |
7,335,781 (GRCm39) |
missense |
probably damaging |
0.99 |
R7102:Spindoc
|
UTSW |
19 |
7,335,807 (GRCm39) |
missense |
probably benign |
0.00 |
R7272:Spindoc
|
UTSW |
19 |
7,360,085 (GRCm39) |
missense |
possibly damaging |
0.77 |
R8348:Spindoc
|
UTSW |
19 |
7,335,769 (GRCm39) |
missense |
possibly damaging |
0.64 |
R8448:Spindoc
|
UTSW |
19 |
7,335,769 (GRCm39) |
missense |
possibly damaging |
0.64 |
R9624:Spindoc
|
UTSW |
19 |
7,352,197 (GRCm39) |
missense |
probably benign |
0.45 |
|
Posted On |
2015-04-16 |