Incidental Mutation 'R6538:Spindoc'
| ID |
520564 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spindoc
|
| Ensembl Gene |
ENSMUSG00000024970 |
| Gene Name |
spindlin interactor and repressor of chromatin binding |
| Synonyms |
AI846148 |
| MMRRC Submission |
044664-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.170)
|
| Stock # |
R6538 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
7331443-7360359 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 7360064 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 35
(I35V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025924
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025924]
|
| AlphaFold |
Q05AH6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025924
AA Change: I35V
PolyPhen 2
Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000025924
Gene: ENSMUSG00000024970
AA Change: I35V
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186160
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930009A15Rik |
A |
G |
10: 115,406,104 (GRCm39) |
|
probably benign |
Het |
| Abcd4 |
T |
A |
12: 84,658,535 (GRCm39) |
M223L |
probably benign |
Het |
| Adat1 |
T |
C |
8: 112,695,094 (GRCm39) |
I482V |
probably benign |
Het |
| Adrm1b |
C |
T |
3: 92,336,562 (GRCm39) |
V47M |
possibly damaging |
Het |
| Arfgef2 |
A |
G |
2: 166,735,541 (GRCm39) |
|
probably null |
Het |
| Atn1 |
A |
G |
6: 124,723,512 (GRCm39) |
|
probably benign |
Het |
| Cyb561d2 |
C |
A |
9: 107,417,216 (GRCm39) |
M178I |
possibly damaging |
Het |
| Dnah14 |
A |
T |
1: 181,412,550 (GRCm39) |
H30L |
unknown |
Het |
| Dnah2 |
T |
C |
11: 69,328,023 (GRCm39) |
I3367V |
possibly damaging |
Het |
| Fcmr |
A |
G |
1: 130,802,762 (GRCm39) |
Y125C |
possibly damaging |
Het |
| Gm7298 |
G |
T |
6: 121,753,132 (GRCm39) |
V870L |
probably damaging |
Het |
| Grin3a |
T |
C |
4: 49,770,856 (GRCm39) |
S639G |
probably damaging |
Het |
| H1f6 |
A |
G |
13: 23,879,904 (GRCm39) |
E19G |
probably benign |
Het |
| Ighv9-1 |
T |
A |
12: 114,057,685 (GRCm39) |
T72S |
possibly damaging |
Het |
| Klra2 |
T |
A |
6: 131,219,953 (GRCm39) |
H76L |
probably damaging |
Het |
| Lamp1 |
A |
G |
8: 13,221,285 (GRCm39) |
T209A |
probably benign |
Het |
| Lrrc9 |
T |
A |
12: 72,547,703 (GRCm39) |
Y1294N |
probably benign |
Het |
| Or2b11 |
C |
T |
11: 59,462,411 (GRCm39) |
V52I |
probably benign |
Het |
| Or5t9 |
A |
T |
2: 86,659,869 (GRCm39) |
T258S |
possibly damaging |
Het |
| Peg10 |
GAT |
GATCAT |
6: 4,756,449 (GRCm39) |
|
probably benign |
Het |
| Pik3ca |
T |
C |
3: 32,493,853 (GRCm39) |
Y272H |
probably damaging |
Het |
| St6galnac4 |
A |
C |
2: 32,487,090 (GRCm39) |
M262L |
possibly damaging |
Het |
| Szt2 |
C |
T |
4: 118,247,674 (GRCm39) |
|
probably null |
Het |
| Tcstv7b |
T |
C |
13: 120,702,468 (GRCm39) |
V88A |
possibly damaging |
Het |
| Trem1 |
T |
C |
17: 48,544,118 (GRCm39) |
Y48H |
possibly damaging |
Het |
| Trim38 |
A |
T |
13: 23,969,932 (GRCm39) |
T164S |
probably damaging |
Het |
| Zfp715 |
A |
T |
7: 42,948,573 (GRCm39) |
H462Q |
possibly damaging |
Het |
| Zfyve16 |
C |
T |
13: 92,641,024 (GRCm39) |
G1240E |
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 |
|
IGL02288:Spindoc
|
APN |
19 |
7,335,667 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGGCCTGGGATTCCAAAC -3'
(R):5'- ACAATGAGCCTCCATAAAAGGG -3'
Sequencing Primer
(F):5'- TGGGATTCCAAACCCGGTG -3'
(R):5'- TCGTGACGCGTTGAAGC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation