Incidental Mutation 'R5363:Insyn2b'
ID |
422940 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Insyn2b
|
Ensembl Gene |
ENSMUSG00000069911 |
Gene Name |
inhibitory synaptic factor family member 2B |
Synonyms |
Fam196b, Gm6041 |
MMRRC Submission |
042941-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
R5363 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
34264822-34372642 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 34352788 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 277
(E277K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129183
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093192]
[ENSMUST00000093193]
[ENSMUST00000101364]
[ENSMUST00000101365]
[ENSMUST00000165963]
|
AlphaFold |
Q6GQV1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000093192
AA Change: E277K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000090883 Gene: ENSMUSG00000069911 AA Change: E277K
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 damaging
Transcript: ENSMUST00000165963
AA Change: E277K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000129183 Gene: ENSMUSG00000069911 AA Change: E277K
Domain | Start | End | E-Value | Type |
Pfam:FAM196
|
3 |
535 |
1.3e-168 |
PFAM |
|
Meta Mutation Damage Score |
0.0689 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca1 |
A |
G |
4: 53,132,963 (GRCm39) |
I40T |
probably benign |
Het |
Abca13 |
T |
C |
11: 9,227,035 (GRCm39) |
V597A |
possibly damaging |
Het |
Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
Anapc1 |
A |
G |
2: 128,492,114 (GRCm39) |
|
probably null |
Het |
Ap4e1 |
G |
A |
2: 126,879,784 (GRCm39) |
|
probably null |
Het |
Apod |
T |
C |
16: 31,129,909 (GRCm39) |
T16A |
probably benign |
Het |
Arrdc5 |
C |
T |
17: 56,607,138 (GRCm39) |
V36M |
probably damaging |
Het |
Bcan |
A |
G |
3: 87,902,794 (GRCm39) |
V328A |
probably damaging |
Het |
Bche |
A |
G |
3: 73,607,972 (GRCm39) |
Y485H |
probably damaging |
Het |
Btbd6 |
A |
G |
12: 112,941,756 (GRCm39) |
Y356C |
probably damaging |
Het |
Cdh4 |
A |
G |
2: 179,528,556 (GRCm39) |
T555A |
probably benign |
Het |
Ciita |
C |
T |
16: 10,330,031 (GRCm39) |
H769Y |
probably damaging |
Het |
Clspn |
A |
G |
4: 126,455,579 (GRCm39) |
D35G |
possibly damaging |
Het |
Cpsf3 |
T |
A |
12: 21,358,986 (GRCm39) |
M562K |
probably benign |
Het |
Cstdc1 |
G |
T |
2: 148,625,298 (GRCm39) |
L77F |
probably damaging |
Het |
Cwc22 |
ATCTCTCTCTCTCTCTCT |
ATCTCTCTCTCTCTCT |
2: 77,759,803 (GRCm39) |
|
probably null |
Het |
Cyp2a22 |
T |
A |
7: 26,635,858 (GRCm39) |
Q235L |
probably damaging |
Het |
Dicer1 |
A |
G |
12: 104,669,410 (GRCm39) |
S1091P |
probably damaging |
Het |
Dync1li1 |
T |
A |
9: 114,544,297 (GRCm39) |
I323N |
probably damaging |
Het |
Fat4 |
A |
G |
3: 38,942,154 (GRCm39) |
N349S |
probably damaging |
Het |
Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
Hectd4 |
T |
C |
5: 121,448,666 (GRCm39) |
M338T |
probably benign |
Het |
Lactb2 |
A |
T |
1: 13,700,356 (GRCm39) |
I225N |
probably benign |
Het |
Ltbr |
G |
A |
6: 125,289,757 (GRCm39) |
R146W |
probably damaging |
Het |
Mrps30 |
A |
G |
13: 118,523,698 (GRCm39) |
S25P |
probably benign |
Het |
Myg1 |
T |
C |
15: 102,246,259 (GRCm39) |
V378A |
probably benign |
Het |
Notch4 |
C |
T |
17: 34,806,097 (GRCm39) |
T1731I |
probably damaging |
Het |
Ntmt1 |
A |
G |
2: 30,710,660 (GRCm39) |
D121G |
probably damaging |
Het |
Or10p21 |
C |
A |
10: 128,847,783 (GRCm39) |
P210T |
probably damaging |
Het |
Or5d39 |
A |
T |
2: 87,980,146 (GRCm39) |
D72E |
probably damaging |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Pclo |
A |
G |
5: 14,719,424 (GRCm39) |
D1187G |
unknown |
Het |
Pkd1 |
T |
A |
17: 24,784,047 (GRCm39) |
Y198N |
probably benign |
Het |
Plk4 |
T |
A |
3: 40,756,419 (GRCm39) |
N83K |
possibly damaging |
Het |
Prune2 |
A |
T |
19: 17,095,630 (GRCm39) |
Q378L |
probably damaging |
Het |
R3hdm4 |
C |
T |
10: 79,748,292 (GRCm39) |
E162K |
possibly damaging |
Het |
Rasa1 |
G |
T |
13: 85,436,674 (GRCm39) |
T118K |
possibly damaging |
Het |
Rin3 |
G |
A |
12: 102,292,093 (GRCm39) |
V97M |
probably damaging |
Het |
Rock2 |
T |
C |
12: 17,015,655 (GRCm39) |
|
probably null |
Het |
Slc34a1 |
A |
G |
13: 55,551,081 (GRCm39) |
I289V |
probably benign |
Het |
Slc34a1 |
T |
C |
13: 55,560,103 (GRCm39) |
L443P |
probably damaging |
Het |
Slco2a1 |
A |
T |
9: 102,947,462 (GRCm39) |
I254F |
probably damaging |
Het |
Spink11 |
T |
C |
18: 44,328,753 (GRCm39) |
I32V |
probably benign |
Het |
Spire1 |
T |
C |
18: 67,639,625 (GRCm39) |
E296G |
probably damaging |
Het |
Sun1 |
A |
G |
5: 139,220,498 (GRCm39) |
N410D |
probably damaging |
Het |
Syt14 |
T |
A |
1: 192,612,971 (GRCm39) |
T610S |
possibly damaging |
Het |
Tenm3 |
T |
C |
8: 48,740,866 (GRCm39) |
I1206V |
possibly damaging |
Het |
Tet3 |
A |
T |
6: 83,353,746 (GRCm39) |
|
probably null |
Het |
Thbs1 |
A |
T |
2: 117,953,147 (GRCm39) |
Q919L |
probably damaging |
Het |
Trappc10 |
A |
G |
10: 78,024,674 (GRCm39) |
F1152L |
possibly damaging |
Het |
Trp63 |
C |
A |
16: 25,682,468 (GRCm39) |
N176K |
probably damaging |
Het |
Zbtb17 |
A |
G |
4: 141,194,072 (GRCm39) |
E700G |
probably benign |
Het |
Zfp446 |
G |
A |
7: 12,711,984 (GRCm39) |
R69H |
probably benign |
Het |
Zfy2 |
C |
T |
Y: 2,106,555 (GRCm39) |
C693Y |
possibly damaging |
Het |
Zxdc |
A |
G |
6: 90,359,128 (GRCm39) |
T587A |
probably damaging |
Het |
Zyg11a |
A |
G |
4: 108,046,819 (GRCm39) |
C552R |
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 |
|
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 |
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 |
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 |
PCR Primer
(F):5'- AGTCCAACCTGGGAAGCTAGAG -3'
(R):5'- TTCTGAGTGACTCCAGGTCC -3'
Sequencing Primer
(F):5'- GGAAGCTAGAGAGTCGGCTC -3'
(R):5'- CCAGGTCCTGGTGATTGTCAC -3'
|
Posted On |
2016-08-04 |