Incidental Mutation 'R1234:Insyn1'
ID |
152388 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Insyn1
|
Ensembl Gene |
ENSMUSG00000066607 |
Gene Name |
inhibitory synaptic factor 1 |
Synonyms |
6030419C18Rik |
MMRRC Submission |
039302-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.066)
|
Stock # |
R1234 (G1)
|
Quality Score |
101 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
58395886-58407063 bp(+) (GRCm39) |
Type of Mutation |
small deletion (1 aa in frame mutation) |
DNA Base Change (assembly) |
AGAGGAGGAGGAGGAGG to AGAGGAGGAGGAGG
at 58406715 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148914
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085658]
[ENSMUST00000216294]
|
AlphaFold |
Q8CD60 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000085658
|
SMART Domains |
Protein: ENSMUSP00000082800 Gene: ENSMUSG00000066607
Domain | Start | End | E-Value | Type |
Pfam:DUF4589
|
52 |
279 |
2e-97 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000216294
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ccn1 |
A |
G |
3: 145,355,594 (GRCm39) |
|
probably benign |
Het |
Cd300e |
T |
A |
11: 114,946,192 (GRCm39) |
I90F |
probably damaging |
Het |
Dclk1 |
T |
C |
3: 55,397,298 (GRCm39) |
I528T |
probably damaging |
Het |
Dnajc13 |
T |
C |
9: 104,091,356 (GRCm39) |
N645S |
possibly damaging |
Het |
Efhb |
A |
T |
17: 53,758,615 (GRCm39) |
Y340* |
probably null |
Het |
Fhod1 |
T |
C |
8: 106,063,795 (GRCm39) |
|
probably benign |
Het |
Hk2 |
G |
A |
6: 82,737,229 (GRCm39) |
H28Y |
possibly damaging |
Het |
Hmcn1 |
G |
A |
1: 150,629,405 (GRCm39) |
R951* |
probably null |
Het |
Mapkapk2 |
G |
A |
1: 130,983,513 (GRCm39) |
R334* |
probably null |
Het |
Nckap1 |
C |
T |
2: 80,348,286 (GRCm39) |
S889N |
probably benign |
Het |
Psg18 |
A |
T |
7: 18,083,115 (GRCm39) |
S347T |
probably damaging |
Het |
Ptk6 |
C |
T |
2: 180,844,233 (GRCm39) |
R22Q |
possibly damaging |
Het |
Samd4b |
C |
T |
7: 28,113,435 (GRCm39) |
G177R |
probably damaging |
Het |
Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
Ssrp1 |
T |
C |
2: 84,872,607 (GRCm39) |
F415S |
probably damaging |
Het |
Stab1 |
A |
G |
14: 30,872,193 (GRCm39) |
L1198P |
probably damaging |
Het |
Tcf23 |
T |
C |
5: 31,127,566 (GRCm39) |
Y123H |
probably damaging |
Het |
Vars2 |
T |
C |
17: 35,978,038 (GRCm39) |
N43S |
probably damaging |
Het |
Vmn2r79 |
A |
T |
7: 86,653,307 (GRCm39) |
E524V |
possibly damaging |
Het |
Xrcc1 |
T |
C |
7: 24,267,270 (GRCm39) |
V373A |
possibly damaging |
Het |
|
Other mutations in Insyn1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL03367:Insyn1
|
APN |
9 |
58,406,381 (GRCm39) |
missense |
probably damaging |
1.00 |
R1367:Insyn1
|
UTSW |
9 |
58,406,263 (GRCm39) |
missense |
probably damaging |
1.00 |
R1385:Insyn1
|
UTSW |
9 |
58,406,715 (GRCm39) |
small deletion |
probably benign |
|
R1615:Insyn1
|
UTSW |
9 |
58,406,351 (GRCm39) |
missense |
probably damaging |
0.96 |
R1850:Insyn1
|
UTSW |
9 |
58,406,392 (GRCm39) |
missense |
probably benign |
|
R2088:Insyn1
|
UTSW |
9 |
58,406,288 (GRCm39) |
missense |
probably damaging |
1.00 |
R3943:Insyn1
|
UTSW |
9 |
58,406,715 (GRCm39) |
small deletion |
probably benign |
|
R3955:Insyn1
|
UTSW |
9 |
58,406,906 (GRCm39) |
missense |
probably damaging |
1.00 |
R4614:Insyn1
|
UTSW |
9 |
58,406,715 (GRCm39) |
small deletion |
probably benign |
|
R6164:Insyn1
|
UTSW |
9 |
58,406,530 (GRCm39) |
missense |
probably damaging |
0.96 |
R6622:Insyn1
|
UTSW |
9 |
58,406,533 (GRCm39) |
missense |
probably benign |
0.00 |
R7561:Insyn1
|
UTSW |
9 |
58,406,687 (GRCm39) |
missense |
probably damaging |
1.00 |
R8717:Insyn1
|
UTSW |
9 |
58,406,623 (GRCm39) |
missense |
probably damaging |
1.00 |
R9780:Insyn1
|
UTSW |
9 |
58,406,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGACTTTGAACTGGAGCCAGATGAC -3'
(R):5'- AGTGCTGCTGTTCCTTGTGACC -3'
Sequencing Primer
(F):5'- GGCTGATATCCTCTCAGACAG -3'
(R):5'- GTTCCTTGTGACCCTCCG -3'
|
Posted On |
2014-01-29 |