Incidental Mutation 'R6718:Spindoc'
| ID |
529477 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spindoc
|
| Ensembl Gene |
ENSMUSG00000024970 |
| Gene Name |
spindlin interactor and repressor of chromatin binding |
| Synonyms |
AI846148 |
| MMRRC Submission |
044836-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.149)
|
| Stock # |
R6718 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
7331443-7360359 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 7335781 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 336
(V336I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025924
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025924]
|
| AlphaFold |
Q05AH6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025924
AA Change: V336I
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000025924
Gene: ENSMUSG00000024970
AA Change: V336I
| 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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afg3l2 |
G |
A |
18: 67,554,346 (GRCm39) |
T452I |
probably damaging |
Het |
| Asb8 |
A |
G |
15: 98,034,015 (GRCm39) |
I180T |
probably benign |
Het |
| Cdh18 |
A |
G |
15: 23,226,835 (GRCm39) |
T45A |
probably benign |
Het |
| Col12a1 |
T |
A |
9: 79,606,887 (GRCm39) |
Y512F |
probably damaging |
Het |
| Col6a1 |
A |
G |
10: 76,560,884 (GRCm39) |
F38S |
probably damaging |
Het |
| Hoxc5 |
A |
G |
15: 102,922,698 (GRCm39) |
|
probably null |
Het |
| Kmt2d |
TATGCTGCTG |
TATGCTGCTGATGCTGCTG |
15: 98,747,467 (GRCm39) |
|
probably benign |
Het |
| Kmt2d |
C |
T |
15: 98,748,420 (GRCm39) |
|
probably benign |
Het |
| Lrp2 |
G |
T |
2: 69,314,124 (GRCm39) |
H2202Q |
probably benign |
Het |
| Maf |
C |
A |
8: 116,433,539 (GRCm39) |
V22F |
unknown |
Het |
| Mrgpra3 |
C |
T |
7: 47,239,444 (GRCm39) |
V161M |
probably benign |
Het |
| Or7g33 |
G |
T |
9: 19,448,495 (GRCm39) |
H244N |
probably damaging |
Het |
| Otx1 |
T |
C |
11: 21,946,412 (GRCm39) |
|
probably benign |
Het |
| Parvb |
C |
T |
15: 84,182,180 (GRCm39) |
R237W |
probably damaging |
Het |
| Pex11a |
A |
G |
7: 79,387,230 (GRCm39) |
F201L |
probably benign |
Het |
| Pigu |
A |
G |
2: 155,143,206 (GRCm39) |
Y232H |
possibly damaging |
Het |
| Pms2 |
T |
C |
5: 143,860,307 (GRCm39) |
I40T |
probably damaging |
Het |
| Pura |
A |
G |
18: 36,420,696 (GRCm39) |
N161S |
probably damaging |
Het |
| Ranbp10 |
A |
G |
8: 106,501,260 (GRCm39) |
V330A |
possibly damaging |
Het |
| Slc30a9 |
T |
C |
5: 67,490,443 (GRCm39) |
V218A |
probably damaging |
Het |
| Tmprss9 |
A |
G |
10: 80,726,198 (GRCm39) |
T483A |
probably benign |
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 |
|
R6538:Spindoc
|
UTSW |
19 |
7,360,064 (GRCm39) |
missense |
probably benign |
0.17 |
|
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'- GATCTGAGATTTAAGCCAATGGGG -3'
(R):5'- TGGACTTCTCCCAGCACAAG -3'
Sequencing Primer
(F):5'- TTAAGCCAATGGGGGATAACTACCTC -3'
(R):5'- CACAAGACACTGGGCTGTG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation