Incidental Mutation 'R5705:Insyn2b'
ID |
451935 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Insyn2b
|
Ensembl Gene |
ENSMUSG00000069911 |
Gene Name |
inhibitory synaptic factor family member 2B |
Synonyms |
Fam196b, Gm6041 |
MMRRC Submission |
043330-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.058)
|
Stock # |
R5705 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
34264822-34372642 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 34354349 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 473
(Y473C)
|
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: Y473C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000090883 Gene: ENSMUSG00000069911 AA Change: Y473C
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: Y473C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000129183 Gene: ENSMUSG00000069911 AA Change: Y473C
Domain | Start | End | E-Value | Type |
Pfam:FAM196
|
3 |
535 |
1.3e-168 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
T |
C |
10: 79,851,276 (GRCm39) |
V2163A |
probably benign |
Het |
Abcg3 |
G |
A |
5: 105,116,036 (GRCm39) |
A266V |
probably damaging |
Het |
Ago1 |
T |
C |
4: 126,342,587 (GRCm39) |
I519V |
probably benign |
Het |
Arhgap4 |
G |
A |
X: 72,950,423 (GRCm39) |
R43W |
probably damaging |
Het |
Aurkb |
T |
A |
11: 68,939,641 (GRCm39) |
L213I |
possibly damaging |
Het |
Bod1l |
T |
A |
5: 41,974,345 (GRCm39) |
Q2323L |
probably benign |
Het |
Calhm5 |
A |
T |
10: 33,971,989 (GRCm39) |
C149S |
probably damaging |
Het |
Ccdc17 |
C |
T |
4: 116,454,066 (GRCm39) |
T28I |
probably benign |
Het |
Ccdc39 |
T |
C |
3: 33,871,086 (GRCm39) |
E630G |
probably damaging |
Het |
Cnih4 |
A |
G |
1: 180,981,300 (GRCm39) |
I24V |
probably benign |
Het |
Ctse |
C |
A |
1: 131,592,112 (GRCm39) |
T146K |
possibly damaging |
Het |
Ctsr |
A |
G |
13: 61,309,078 (GRCm39) |
F226L |
probably damaging |
Het |
Cyp2a22 |
T |
C |
7: 26,638,640 (GRCm39) |
N49D |
probably benign |
Het |
Defb23 |
C |
T |
2: 152,301,204 (GRCm39) |
A123T |
probably benign |
Het |
Dtx2 |
C |
A |
5: 136,039,149 (GRCm39) |
D69E |
probably damaging |
Het |
Eps8l1 |
T |
C |
7: 4,473,034 (GRCm39) |
V91A |
probably benign |
Het |
Eps8l3 |
C |
A |
3: 107,798,580 (GRCm39) |
Q489K |
probably benign |
Het |
Esyt3 |
A |
G |
9: 99,200,260 (GRCm39) |
S645P |
probably benign |
Het |
Fam161a |
T |
A |
11: 22,978,869 (GRCm39) |
M472K |
unknown |
Het |
Glp2r |
A |
G |
11: 67,600,565 (GRCm39) |
V428A |
probably benign |
Het |
Gnl1 |
G |
A |
17: 36,292,492 (GRCm39) |
V191I |
probably benign |
Het |
Hfm1 |
T |
C |
5: 107,059,319 (GRCm39) |
I234M |
probably benign |
Het |
Hlx |
T |
C |
1: 184,463,062 (GRCm39) |
T197A |
probably benign |
Het |
Hs3st2 |
T |
C |
7: 120,992,305 (GRCm39) |
L85P |
probably damaging |
Het |
Igsf9 |
T |
C |
1: 172,322,338 (GRCm39) |
V511A |
possibly damaging |
Het |
Kcnma1 |
A |
T |
14: 24,053,839 (GRCm39) |
C54S |
possibly damaging |
Het |
Klhdc4 |
A |
G |
8: 122,531,732 (GRCm39) |
V181A |
probably benign |
Het |
Ldb3 |
T |
C |
14: 34,298,986 (GRCm39) |
M213V |
probably null |
Het |
Mertk |
C |
A |
2: 128,613,321 (GRCm39) |
Q446K |
probably benign |
Het |
Ndufs1 |
A |
G |
1: 63,186,317 (GRCm39) |
V46A |
probably benign |
Het |
Neurod4 |
A |
G |
10: 130,107,271 (GRCm39) |
M1T |
probably null |
Het |
Nlrc5 |
T |
A |
8: 95,202,385 (GRCm39) |
C162S |
probably benign |
Het |
Pald1 |
A |
G |
10: 61,159,076 (GRCm39) |
I785T |
possibly damaging |
Het |
Pcmt1 |
T |
C |
10: 7,513,954 (GRCm39) |
I224M |
possibly damaging |
Het |
Pisd |
C |
T |
5: 32,894,707 (GRCm39) |
R533H |
probably benign |
Het |
Plcxd3 |
C |
A |
15: 4,546,676 (GRCm39) |
Q227K |
probably benign |
Het |
Polr1b |
A |
T |
2: 128,947,271 (GRCm39) |
K199* |
probably null |
Het |
Ppp1r10 |
T |
C |
17: 36,240,381 (GRCm39) |
V557A |
probably damaging |
Het |
Ralgapa2 |
A |
G |
2: 146,291,193 (GRCm39) |
Y248H |
probably damaging |
Het |
Rsrp1 |
T |
C |
4: 134,651,331 (GRCm39) |
S32P |
unknown |
Het |
Setdb2 |
T |
G |
14: 59,660,814 (GRCm39) |
S110R |
possibly damaging |
Het |
Srcin1 |
A |
G |
11: 97,439,777 (GRCm39) |
C152R |
probably benign |
Het |
Syk |
A |
G |
13: 52,765,083 (GRCm39) |
N70S |
probably benign |
Het |
Tlr4 |
T |
A |
4: 66,752,217 (GRCm39) |
D59E |
probably damaging |
Het |
Tm9sf4 |
T |
A |
2: 153,024,378 (GRCm39) |
I67N |
probably benign |
Het |
Trim30b |
T |
A |
7: 104,006,784 (GRCm39) |
Y24F |
probably damaging |
Het |
Tsga13 |
A |
G |
6: 30,876,951 (GRCm39) |
S189P |
probably damaging |
Het |
Tspan33 |
A |
G |
6: 29,717,232 (GRCm39) |
D210G |
probably benign |
Het |
Use1 |
G |
T |
8: 71,822,331 (GRCm39) |
R278L |
probably damaging |
Het |
Wwc1 |
T |
C |
11: 35,767,423 (GRCm39) |
N403D |
probably damaging |
Het |
Zfp263 |
C |
T |
16: 3,564,318 (GRCm39) |
P203S |
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 |
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 |
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'- ACCAAGTACCCTAGGAGTGG -3'
(R):5'- TTTGCTCCTAGACCTTGTGG -3'
Sequencing Primer
(F):5'- CCTAGGAGTGGGAGGTTCC -3'
(R):5'- GCTCCTAGACCTTGTGGATAAG -3'
|
Posted On |
2017-01-03 |