Incidental Mutation 'IGL01867:Insyn2b'
ID |
178573 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Insyn2b
|
Ensembl Gene |
ENSMUSG00000069911 |
Gene Name |
inhibitory synaptic factor family member 2B |
Synonyms |
Fam196b, Gm6041 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
IGL01867
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
34264822-34372642 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 34353065 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 369
(E369G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129183
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093192]
[ENSMUST00000093193]
[ENSMUST00000101364]
[ENSMUST00000101365]
[ENSMUST00000165963]
|
AlphaFold |
Q6GQV1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000093192
AA Change: E369G
PolyPhen 2
Score 0.386 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000090883 Gene: ENSMUSG00000069911 AA Change: E369G
Domain | Start | End | E-Value | Type |
Pfam:FAM196
|
1 |
535 |
3.6e-196 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000093193
|
SMART Domains |
Protein: ENSMUSP00000090884 Gene: ENSMUSG00000020143
Domain | Start | End | E-Value | Type |
SH3
|
11 |
68 |
1.22e-11 |
SMART |
Pfam:DOCK_N
|
71 |
414 |
2e-113 |
PFAM |
Pfam:DOCK-C2
|
419 |
616 |
1e-60 |
PFAM |
Pfam:DHR-2
|
1114 |
1614 |
6.3e-96 |
PFAM |
low complexity region
|
1691 |
1706 |
N/A |
INTRINSIC |
low complexity region
|
1793 |
1800 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000101364
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000101365
|
SMART Domains |
Protein: ENSMUSP00000098916 Gene: ENSMUSG00000020143
Domain | Start | End | E-Value | Type |
SH3
|
11 |
68 |
1.22e-11 |
SMART |
Pfam:DOCK_N
|
71 |
414 |
1.4e-113 |
PFAM |
Pfam:DOCK-C2
|
419 |
616 |
5.5e-61 |
PFAM |
low complexity region
|
1163 |
1171 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000165963
AA Change: E369G
PolyPhen 2
Score 0.386 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000129183 Gene: ENSMUSG00000069911 AA Change: E369G
Domain | Start | End | E-Value | Type |
Pfam:FAM196
|
3 |
535 |
1.3e-168 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc10 |
T |
C |
17: 46,635,364 (GRCm39) |
E213G |
probably benign |
Het |
Akap6 |
T |
C |
12: 52,934,791 (GRCm39) |
L761P |
probably damaging |
Het |
Bbs7 |
A |
C |
3: 36,627,696 (GRCm39) |
L697R |
probably benign |
Het |
Cd74 |
G |
A |
18: 60,941,352 (GRCm39) |
R99H |
probably benign |
Het |
Cpne6 |
A |
G |
14: 55,751,137 (GRCm39) |
N182S |
probably benign |
Het |
Cyp4f17 |
A |
G |
17: 32,747,057 (GRCm39) |
H429R |
probably benign |
Het |
Dact2 |
A |
T |
17: 14,415,932 (GRCm39) |
M756K |
probably damaging |
Het |
Ets1 |
A |
G |
9: 32,645,455 (GRCm39) |
D234G |
probably damaging |
Het |
Fat3 |
A |
C |
9: 16,289,197 (GRCm39) |
S109A |
probably benign |
Het |
Fras1 |
G |
T |
5: 96,735,990 (GRCm39) |
M528I |
probably benign |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Gtf3c1 |
A |
G |
7: 125,261,548 (GRCm39) |
F1189L |
probably benign |
Het |
Ift81 |
A |
T |
5: 122,740,739 (GRCm39) |
|
probably benign |
Het |
Lag3 |
A |
G |
6: 124,887,869 (GRCm39) |
S22P |
probably benign |
Het |
Mos |
G |
T |
4: 3,870,845 (GRCm39) |
Q324K |
probably benign |
Het |
Mtx2 |
T |
A |
2: 74,706,733 (GRCm39) |
V236E |
probably damaging |
Het |
Naip6 |
T |
C |
13: 100,436,820 (GRCm39) |
T568A |
probably benign |
Het |
Or5k8 |
A |
G |
16: 58,644,337 (GRCm39) |
F245S |
probably damaging |
Het |
Or6c35 |
T |
A |
10: 129,169,232 (GRCm39) |
L161M |
probably damaging |
Het |
Or6c68 |
T |
C |
10: 129,157,585 (GRCm39) |
I31T |
probably benign |
Het |
Or6c88 |
G |
A |
10: 129,406,696 (GRCm39) |
M57I |
possibly damaging |
Het |
Or8b53 |
A |
C |
9: 38,667,194 (GRCm39) |
D70A |
probably damaging |
Het |
Pcid2 |
A |
G |
8: 13,128,243 (GRCm39) |
V386A |
probably benign |
Het |
Pde8b |
T |
C |
13: 95,237,446 (GRCm39) |
D116G |
probably damaging |
Het |
Plxnc1 |
A |
G |
10: 94,634,008 (GRCm39) |
V1365A |
possibly damaging |
Het |
Prex2 |
G |
T |
1: 11,168,727 (GRCm39) |
C241F |
probably benign |
Het |
Prr23a2 |
A |
G |
9: 98,739,113 (GRCm39) |
E157G |
probably benign |
Het |
Ptpn4 |
A |
T |
1: 119,603,329 (GRCm39) |
H836Q |
probably benign |
Het |
Ptprd |
C |
T |
4: 76,161,884 (GRCm39) |
R117H |
probably damaging |
Het |
Rab11fip4 |
T |
C |
11: 79,574,216 (GRCm39) |
S102P |
probably benign |
Het |
Slc44a1 |
G |
T |
4: 53,536,405 (GRCm39) |
V194F |
probably damaging |
Het |
Synm |
T |
A |
7: 67,383,222 (GRCm39) |
H1480L |
probably benign |
Het |
Tmem63a |
A |
G |
1: 180,783,570 (GRCm39) |
Y175C |
possibly damaging |
Het |
Trmt61a |
C |
T |
12: 111,645,150 (GRCm39) |
R29C |
probably benign |
Het |
Ubap1 |
C |
T |
4: 41,379,236 (GRCm39) |
T150I |
probably benign |
Het |
Uimc1 |
T |
C |
13: 55,223,214 (GRCm39) |
M353V |
probably benign |
Het |
Usp34 |
T |
C |
11: 23,334,411 (GRCm39) |
M1135T |
possibly damaging |
Het |
Vmn1r25 |
A |
C |
6: 57,956,196 (GRCm39) |
L31R |
probably damaging |
Het |
Wtap |
T |
C |
17: 13,188,342 (GRCm39) |
E186G |
probably benign |
Het |
Wwc2 |
T |
G |
8: 48,336,615 (GRCm39) |
N216H |
probably benign |
Het |
Zhx1 |
A |
T |
15: 57,917,841 (GRCm39) |
M135K |
probably damaging |
Het |
|
Other mutations in Insyn2b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00897:Insyn2b
|
APN |
11 |
34,353,011 (GRCm39) |
missense |
probably benign |
|
PIT4677001:Insyn2b
|
UTSW |
11 |
34,353,122 (GRCm39) |
missense |
probably benign |
|
R0317:Insyn2b
|
UTSW |
11 |
34,352,826 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1165:Insyn2b
|
UTSW |
11 |
34,352,740 (GRCm39) |
missense |
probably benign |
|
R1710:Insyn2b
|
UTSW |
11 |
34,354,263 (GRCm39) |
splice site |
probably null |
|
R2083:Insyn2b
|
UTSW |
11 |
34,352,141 (GRCm39) |
missense |
probably benign |
0.01 |
R2096:Insyn2b
|
UTSW |
11 |
34,352,936 (GRCm39) |
missense |
probably benign |
0.03 |
R3820:Insyn2b
|
UTSW |
11 |
34,353,007 (GRCm39) |
missense |
probably benign |
0.01 |
R3821:Insyn2b
|
UTSW |
11 |
34,353,007 (GRCm39) |
missense |
probably benign |
0.01 |
R3822:Insyn2b
|
UTSW |
11 |
34,353,007 (GRCm39) |
missense |
probably benign |
0.01 |
R3969:Insyn2b
|
UTSW |
11 |
34,369,739 (GRCm39) |
missense |
probably damaging |
0.99 |
R3970:Insyn2b
|
UTSW |
11 |
34,369,739 (GRCm39) |
missense |
probably damaging |
0.99 |
R3980:Insyn2b
|
UTSW |
11 |
34,352,678 (GRCm39) |
missense |
probably benign |
0.00 |
R4092:Insyn2b
|
UTSW |
11 |
34,351,935 (GRCm39) |
start gained |
probably benign |
|
R4231:Insyn2b
|
UTSW |
11 |
34,353,143 (GRCm39) |
missense |
probably benign |
0.01 |
R4678:Insyn2b
|
UTSW |
11 |
34,353,227 (GRCm39) |
missense |
probably damaging |
1.00 |
R4859:Insyn2b
|
UTSW |
11 |
34,353,154 (GRCm39) |
missense |
probably benign |
0.31 |
R4938:Insyn2b
|
UTSW |
11 |
34,352,231 (GRCm39) |
missense |
probably damaging |
0.98 |
R5269:Insyn2b
|
UTSW |
11 |
34,352,788 (GRCm39) |
missense |
probably damaging |
1.00 |
R5287:Insyn2b
|
UTSW |
11 |
34,353,058 (GRCm39) |
missense |
probably benign |
0.12 |
R5358:Insyn2b
|
UTSW |
11 |
34,352,788 (GRCm39) |
missense |
probably damaging |
1.00 |
R5359:Insyn2b
|
UTSW |
11 |
34,352,788 (GRCm39) |
missense |
probably damaging |
1.00 |
R5361:Insyn2b
|
UTSW |
11 |
34,352,788 (GRCm39) |
missense |
probably damaging |
1.00 |
R5362:Insyn2b
|
UTSW |
11 |
34,352,788 (GRCm39) |
missense |
probably damaging |
1.00 |
R5363:Insyn2b
|
UTSW |
11 |
34,352,788 (GRCm39) |
missense |
probably damaging |
1.00 |
R5403:Insyn2b
|
UTSW |
11 |
34,353,058 (GRCm39) |
missense |
probably benign |
0.12 |
R5705:Insyn2b
|
UTSW |
11 |
34,354,349 (GRCm39) |
missense |
probably damaging |
1.00 |
R6282:Insyn2b
|
UTSW |
11 |
34,352,819 (GRCm39) |
missense |
possibly damaging |
0.77 |
R7030:Insyn2b
|
UTSW |
11 |
34,352,030 (GRCm39) |
missense |
probably damaging |
0.96 |
R7069:Insyn2b
|
UTSW |
11 |
34,352,677 (GRCm39) |
missense |
possibly damaging |
0.48 |
R7178:Insyn2b
|
UTSW |
11 |
34,352,359 (GRCm39) |
missense |
probably damaging |
0.96 |
R7180:Insyn2b
|
UTSW |
11 |
34,369,873 (GRCm39) |
missense |
probably damaging |
1.00 |
R7718:Insyn2b
|
UTSW |
11 |
34,352,539 (GRCm39) |
missense |
probably benign |
0.00 |
R7789:Insyn2b
|
UTSW |
11 |
34,352,537 (GRCm39) |
missense |
probably benign |
|
R7832:Insyn2b
|
UTSW |
11 |
34,353,034 (GRCm39) |
missense |
probably benign |
|
R8377:Insyn2b
|
UTSW |
11 |
34,351,964 (GRCm39) |
missense |
probably damaging |
1.00 |
R8930:Insyn2b
|
UTSW |
11 |
34,352,707 (GRCm39) |
missense |
probably benign |
0.00 |
R8932:Insyn2b
|
UTSW |
11 |
34,352,707 (GRCm39) |
missense |
probably benign |
0.00 |
R9407:Insyn2b
|
UTSW |
11 |
34,352,072 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:Insyn2b
|
UTSW |
11 |
34,353,188 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Insyn2b
|
UTSW |
11 |
34,352,725 (GRCm39) |
missense |
probably benign |
0.01 |
|
Posted On |
2014-05-07 |