Incidental Mutation 'R1165:Insyn2b'
| ID |
100956 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Insyn2b
|
| Ensembl Gene |
ENSMUSG00000069911 |
| Gene Name |
inhibitory synaptic factor family member 2B |
| Synonyms |
Fam196b, Gm6041 |
| MMRRC Submission |
039238-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R1165 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
34264822-34372642 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34352740 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 261
(T261A)
|
| 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: T261A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000090883
Gene: ENSMUSG00000069911
AA Change: T261A
| 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: T261A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000129183
Gene: ENSMUSG00000069911
AA Change: T261A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAM196
|
3 |
535 |
1.3e-168 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.4%
|
| Validation Efficiency |
98% (50/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
G |
13: 77,482,406 (GRCm39) |
C1209G |
probably benign |
Het |
| Abcg2 |
C |
A |
6: 58,655,285 (GRCm39) |
L407I |
probably benign |
Het |
| Adtrp |
A |
G |
13: 41,967,779 (GRCm39) |
V56A |
probably damaging |
Het |
| Angptl6 |
T |
G |
9: 20,789,604 (GRCm39) |
N96T |
probably benign |
Het |
| Ank3 |
C |
A |
10: 69,734,132 (GRCm39) |
N780K |
possibly damaging |
Het |
| AU040320 |
A |
T |
4: 126,717,433 (GRCm39) |
|
probably benign |
Het |
| Best2 |
C |
T |
8: 85,737,789 (GRCm39) |
R202H |
probably benign |
Het |
| Bod1l |
A |
T |
5: 41,978,396 (GRCm39) |
S973T |
probably benign |
Het |
| Brca2 |
T |
A |
5: 150,466,212 (GRCm39) |
V1992E |
probably damaging |
Het |
| Casp8ap2 |
C |
T |
4: 32,640,563 (GRCm39) |
P539L |
probably benign |
Het |
| Ccr1 |
A |
T |
9: 123,763,531 (GRCm39) |
V333E |
possibly damaging |
Het |
| Celf5 |
A |
T |
10: 81,307,172 (GRCm39) |
V83E |
probably damaging |
Het |
| Col15a1 |
T |
C |
4: 47,257,275 (GRCm39) |
|
probably benign |
Het |
| Coro1b |
C |
A |
19: 4,199,901 (GRCm39) |
H81N |
probably damaging |
Het |
| Cwc22 |
A |
T |
2: 77,734,242 (GRCm39) |
S686T |
probably damaging |
Het |
| Cyp2d26 |
C |
A |
15: 82,678,242 (GRCm39) |
G45W |
probably damaging |
Het |
| Dysf |
T |
A |
6: 84,044,051 (GRCm39) |
N297K |
probably damaging |
Het |
| Edem1 |
T |
A |
6: 108,828,214 (GRCm39) |
L513Q |
probably damaging |
Het |
| Erich1 |
G |
A |
8: 14,140,530 (GRCm39) |
|
probably benign |
Het |
| Fam91a1 |
T |
C |
15: 58,302,518 (GRCm39) |
V286A |
possibly damaging |
Het |
| Fdxr |
C |
A |
11: 115,162,608 (GRCm39) |
|
probably benign |
Het |
| Gas7 |
T |
C |
11: 67,561,512 (GRCm39) |
|
probably benign |
Het |
| Glb1l2 |
T |
C |
9: 26,705,397 (GRCm39) |
D151G |
probably damaging |
Het |
| Gm14410 |
A |
C |
2: 176,885,282 (GRCm39) |
Y327* |
probably null |
Het |
| Grep1 |
A |
C |
17: 23,929,489 (GRCm39) |
|
probably benign |
Het |
| H6pd |
A |
G |
4: 150,080,413 (GRCm39) |
I136T |
possibly damaging |
Het |
| Hectd1 |
A |
T |
12: 51,810,947 (GRCm39) |
|
probably benign |
Het |
| Hipk1 |
T |
C |
3: 103,668,840 (GRCm39) |
T519A |
possibly damaging |
Het |
| Hpd |
A |
G |
5: 123,314,153 (GRCm39) |
|
probably null |
Het |
| Or6c76 |
A |
G |
10: 129,612,302 (GRCm39) |
D188G |
probably damaging |
Het |
| Or7c19 |
T |
A |
8: 85,957,400 (GRCm39) |
I92N |
probably damaging |
Het |
| Pcdha11 |
A |
G |
18: 37,140,757 (GRCm39) |
|
probably benign |
Het |
| Pdgfrb |
T |
C |
18: 61,197,074 (GRCm39) |
I170T |
probably benign |
Het |
| Rasgrp1 |
A |
T |
2: 117,115,420 (GRCm39) |
F723I |
possibly damaging |
Het |
| Retnlg |
A |
G |
16: 48,694,017 (GRCm39) |
T58A |
possibly damaging |
Het |
| Rrs1 |
G |
A |
1: 9,615,992 (GRCm39) |
E82K |
probably damaging |
Het |
| Rtel1 |
A |
G |
2: 180,976,732 (GRCm39) |
K243E |
probably benign |
Het |
| Slc19a2 |
G |
A |
1: 164,091,014 (GRCm39) |
G274D |
probably damaging |
Het |
| Slc22a27 |
T |
C |
19: 7,887,059 (GRCm39) |
|
probably null |
Het |
| Slc6a1 |
T |
C |
6: 114,288,790 (GRCm39) |
F266L |
probably damaging |
Het |
| Snx25 |
T |
G |
8: 46,488,752 (GRCm39) |
I868L |
probably damaging |
Het |
| Spag16 |
A |
G |
1: 70,036,036 (GRCm39) |
I355V |
probably benign |
Het |
| Tmem198 |
A |
T |
1: 75,456,576 (GRCm39) |
|
probably benign |
Het |
| Traf3ip3 |
A |
C |
1: 192,866,786 (GRCm39) |
S349A |
probably damaging |
Het |
| Trim17 |
A |
G |
11: 58,862,041 (GRCm39) |
N358D |
possibly damaging |
Het |
| Trmu |
A |
G |
15: 85,776,875 (GRCm39) |
T196A |
probably damaging |
Het |
| Tsen2 |
A |
G |
6: 115,538,396 (GRCm39) |
Y291C |
probably damaging |
Het |
| Vps13d |
A |
G |
4: 144,853,041 (GRCm39) |
F2358L |
probably benign |
Het |
| Wnt2 |
T |
C |
6: 17,989,946 (GRCm39) |
H317R |
probably benign |
Het |
| Zfp120 |
A |
T |
2: 149,961,849 (GRCm39) |
V33E |
probably damaging |
Het |
| Zfp407 |
C |
T |
18: 84,577,898 (GRCm39) |
A1072T |
probably benign |
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 |
|
|
IGL01867:Insyn2b
|
APN |
11 |
34,353,065 (GRCm39) |
missense |
probably benign |
0.39 |
|
PIT4677001:Insyn2b
|
UTSW |
11 |
34,353,122 (GRCm39) |
missense |
probably benign |
|
|
R0317:Insyn2b
|
UTSW |
11 |
34,352,826 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
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 |
|
| Predicted Primers |
|
| Posted On |
2014-01-15 |
Incidental Mutation