Incidental Mutation 'IGL01504:Insyn2a'
| ID |
88986 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Insyn2a
|
| Ensembl Gene |
ENSMUSG00000073805 |
| Gene Name |
inhibitory synaptic factor 2A |
| Synonyms |
Fam196a, B830028B13Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01504
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
134483655-134540159 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 134519669 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 287
(Q287L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129222
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084488]
[ENSMUST00000171394]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084488
|
| SMART Domains |
Protein: ENSMUSP00000081531
Gene: ENSMUSG00000058325
| Domain | Start | End | E-Value | Type |
|---|
|
SH3
|
12 |
69 |
7.57e-17 |
SMART |
|
Pfam:DOCK_N
|
72 |
416 |
1.7e-113 |
PFAM |
|
Pfam:DOCK-C2
|
421 |
618 |
1.2e-61 |
PFAM |
|
low complexity region
|
628 |
639 |
N/A |
INTRINSIC |
|
Pfam:DHR-2
|
1111 |
1610 |
3.3e-102 |
PFAM |
|
low complexity region
|
1639 |
1664 |
N/A |
INTRINSIC |
|
low complexity region
|
1683 |
1701 |
N/A |
INTRINSIC |
|
low complexity region
|
1756 |
1773 |
N/A |
INTRINSIC |
|
low complexity region
|
1823 |
1857 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171394
AA Change: Q287L
PolyPhen 2
Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000129222
Gene: ENSMUSG00000073805
AA Change: Q287L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAM196
|
1 |
470 |
4.7e-205 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210055
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210617
|
| 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 |
|---|
| Abcc12 |
A |
T |
8: 87,284,231 (GRCm39) |
I326N |
probably damaging |
Het |
| Acot6 |
G |
A |
12: 84,156,176 (GRCm39) |
V375M |
probably benign |
Het |
| Als2cl |
G |
A |
9: 110,718,351 (GRCm39) |
R364Q |
probably benign |
Het |
| Cpa1 |
A |
T |
6: 30,640,720 (GRCm39) |
T121S |
probably benign |
Het |
| Ctnnbl1 |
A |
G |
2: 157,660,036 (GRCm39) |
|
probably benign |
Het |
| Frrs1 |
C |
A |
3: 116,694,307 (GRCm39) |
Q76K |
probably damaging |
Het |
| Gja10 |
T |
A |
4: 32,602,375 (GRCm39) |
D3V |
probably damaging |
Het |
| Krt76 |
T |
C |
15: 101,796,608 (GRCm39) |
E400G |
probably damaging |
Het |
| Mdm1 |
A |
G |
10: 117,982,505 (GRCm39) |
T47A |
probably damaging |
Het |
| Ncf2 |
A |
G |
1: 152,709,080 (GRCm39) |
K336R |
probably benign |
Het |
| Ndrg4 |
C |
A |
8: 96,432,894 (GRCm39) |
L34I |
probably damaging |
Het |
| Phf20l1 |
T |
A |
15: 66,469,540 (GRCm39) |
H148Q |
possibly damaging |
Het |
| Rhobtb1 |
A |
G |
10: 69,085,528 (GRCm39) |
H89R |
probably damaging |
Het |
| Sult1e1 |
T |
C |
5: 87,724,160 (GRCm39) |
N266D |
probably damaging |
Het |
| Sult2a2 |
T |
C |
7: 13,472,189 (GRCm39) |
S129P |
probably damaging |
Het |
| Trank1 |
A |
G |
9: 111,202,612 (GRCm39) |
E1659G |
probably damaging |
Het |
| Trpa1 |
T |
G |
1: 14,952,443 (GRCm39) |
I863L |
possibly damaging |
Het |
| Vmn1r177 |
C |
T |
7: 23,565,835 (GRCm39) |
V14M |
probably damaging |
Het |
| Vmn2r14 |
A |
T |
5: 109,369,285 (GRCm39) |
M96K |
probably benign |
Het |
| Zp1 |
C |
T |
19: 10,896,375 (GRCm39) |
V117M |
probably damaging |
Het |
|
| Other mutations in Insyn2a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02380:Insyn2a
|
APN |
7 |
134,500,873 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0557:Insyn2a
|
UTSW |
7 |
134,520,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1421:Insyn2a
|
UTSW |
7 |
134,500,960 (GRCm39) |
splice site |
probably benign |
|
|
R1691:Insyn2a
|
UTSW |
7 |
134,520,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1726:Insyn2a
|
UTSW |
7 |
134,500,867 (GRCm39) |
splice site |
probably benign |
|
|
R2045:Insyn2a
|
UTSW |
7 |
134,520,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2259:Insyn2a
|
UTSW |
7 |
134,519,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3078:Insyn2a
|
UTSW |
7 |
134,519,750 (GRCm39) |
missense |
probably benign |
0.15 |
|
R3851:Insyn2a
|
UTSW |
7 |
134,486,255 (GRCm39) |
missense |
probably benign |
0.23 |
|
R4619:Insyn2a
|
UTSW |
7 |
134,520,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4663:Insyn2a
|
UTSW |
7 |
134,500,877 (GRCm39) |
nonsense |
probably null |
|
|
R5024:Insyn2a
|
UTSW |
7 |
134,520,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5067:Insyn2a
|
UTSW |
7 |
134,520,284 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5195:Insyn2a
|
UTSW |
7 |
134,486,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5708:Insyn2a
|
UTSW |
7 |
134,520,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6195:Insyn2a
|
UTSW |
7 |
134,520,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7151:Insyn2a
|
UTSW |
7 |
134,520,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7414:Insyn2a
|
UTSW |
7 |
134,519,738 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7988:Insyn2a
|
UTSW |
7 |
134,519,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8930:Insyn2a
|
UTSW |
7 |
134,500,881 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8932:Insyn2a
|
UTSW |
7 |
134,500,881 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9230:Insyn2a
|
UTSW |
7 |
134,520,439 (GRCm39) |
nonsense |
probably null |
|
|
R9586:Insyn2a
|
UTSW |
7 |
134,520,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Insyn2a
|
UTSW |
7 |
134,520,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-12-03 |
Incidental Mutation