Incidental Mutation 'IGL01366:Ighg2b'
ID |
75935 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ighg2b
|
Ensembl Gene |
ENSMUSG00000076613 |
Gene Name |
immunoglobulin heavy constant gamma 2B |
Synonyms |
IgG2b, gamma2b |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
IGL01366
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
113267934-113271553 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 113270656 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Alanine
at position 158
(D158A)
|
Gene Model |
predicted gene model for transcript(s):
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000103418
AA Change: D158A
PolyPhen 2
Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000100214 Gene: ENSMUSG00000076613 AA Change: D158A
Domain | Start | End | E-Value | Type |
IGc1
|
22 |
92 |
6.9e-16 |
SMART |
low complexity region
|
108 |
121 |
N/A |
INTRINSIC |
IG_like
|
145 |
220 |
4.02e-2 |
SMART |
IGc1
|
251 |
324 |
1.64e-31 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000192188
AA Change: D158A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310002L09Rik |
A |
T |
4: 73,868,937 (GRCm39) |
|
probably benign |
Het |
Adamts2 |
T |
C |
11: 50,687,295 (GRCm39) |
Y1041H |
probably damaging |
Het |
Adck5 |
A |
C |
15: 76,479,816 (GRCm39) |
*568C |
probably null |
Het |
AK157302 |
T |
A |
13: 21,679,471 (GRCm39) |
|
probably benign |
Het |
Bmpr2 |
G |
T |
1: 59,852,836 (GRCm39) |
G56W |
probably damaging |
Het |
Capn11 |
A |
C |
17: 45,964,126 (GRCm39) |
I146S |
probably damaging |
Het |
Ccdc162 |
A |
T |
10: 41,456,302 (GRCm39) |
D1613E |
possibly damaging |
Het |
Ccdc167 |
T |
C |
17: 29,924,286 (GRCm39) |
E50G |
probably damaging |
Het |
Col5a2 |
G |
T |
1: 45,431,048 (GRCm39) |
P864Q |
possibly damaging |
Het |
Col7a1 |
C |
T |
9: 108,806,187 (GRCm39) |
|
probably benign |
Het |
Crebbp |
T |
A |
16: 3,944,370 (GRCm39) |
H556L |
probably damaging |
Het |
Dcpp1 |
T |
A |
17: 24,101,710 (GRCm39) |
I153N |
possibly damaging |
Het |
Dgke |
C |
T |
11: 88,946,212 (GRCm39) |
R196H |
probably benign |
Het |
Efr3a |
T |
A |
15: 65,722,999 (GRCm39) |
I459K |
probably benign |
Het |
Espl1 |
T |
A |
15: 102,228,271 (GRCm39) |
C1682S |
probably benign |
Het |
Exosc3 |
C |
T |
4: 45,317,747 (GRCm39) |
R185H |
probably damaging |
Het |
Fgd6 |
T |
C |
10: 93,879,338 (GRCm39) |
V64A |
possibly damaging |
Het |
Fhip2b |
G |
A |
14: 70,822,813 (GRCm39) |
R688C |
probably damaging |
Het |
Gata3 |
A |
G |
2: 9,882,276 (GRCm39) |
L42P |
probably damaging |
Het |
Ggta1 |
C |
A |
2: 35,292,462 (GRCm39) |
E282* |
probably null |
Het |
Ghr |
T |
C |
15: 3,349,669 (GRCm39) |
D503G |
probably damaging |
Het |
Gls |
C |
T |
1: 52,207,558 (GRCm39) |
G602D |
probably damaging |
Het |
Gm2058 |
A |
G |
7: 39,238,658 (GRCm39) |
|
noncoding transcript |
Het |
Grb7 |
T |
C |
11: 98,343,100 (GRCm39) |
|
probably benign |
Het |
Ifngr1 |
A |
T |
10: 19,485,348 (GRCm39) |
H449L |
probably damaging |
Het |
Nphs2 |
T |
C |
1: 156,138,605 (GRCm39) |
V83A |
probably benign |
Het |
Parp6 |
T |
A |
9: 59,543,996 (GRCm39) |
M390K |
possibly damaging |
Het |
Pask |
T |
C |
1: 93,238,574 (GRCm39) |
K1304E |
probably benign |
Het |
Scai |
A |
G |
2: 38,996,973 (GRCm39) |
S274P |
probably benign |
Het |
Sik2 |
A |
G |
9: 50,818,763 (GRCm39) |
S404P |
probably damaging |
Het |
Slc7a8 |
A |
T |
14: 55,018,645 (GRCm39) |
I47N |
probably damaging |
Het |
Tas2r113 |
A |
T |
6: 132,870,760 (GRCm39) |
I263F |
probably benign |
Het |
Tdrd1 |
T |
A |
19: 56,843,734 (GRCm39) |
D737E |
probably benign |
Het |
Trio |
T |
C |
15: 27,732,954 (GRCm39) |
T2976A |
possibly damaging |
Het |
Ttc28 |
T |
C |
5: 111,233,037 (GRCm39) |
|
probably null |
Het |
Vmn1r21 |
A |
G |
6: 57,820,799 (GRCm39) |
I215T |
probably benign |
Het |
|
Other mutations in Ighg2b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01837:Ighg2b
|
APN |
12 |
113,270,065 (GRCm39) |
missense |
unknown |
|
IGL01973:Ighg2b
|
APN |
12 |
113,271,305 (GRCm39) |
missense |
unknown |
|
IGL01998:Ighg2b
|
APN |
12 |
113,270,709 (GRCm39) |
missense |
unknown |
|
IGL02147:Ighg2b
|
APN |
12 |
113,270,011 (GRCm39) |
makesense |
probably null |
|
IGL02183:Ighg2b
|
APN |
12 |
113,271,449 (GRCm39) |
missense |
unknown |
|
IGL03089:Ighg2b
|
APN |
12 |
113,270,298 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4453001:Ighg2b
|
UTSW |
12 |
113,270,492 (GRCm39) |
missense |
unknown |
|
R4199:Ighg2b
|
UTSW |
12 |
113,270,907 (GRCm39) |
missense |
probably damaging |
0.96 |
R4459:Ighg2b
|
UTSW |
12 |
113,270,578 (GRCm39) |
missense |
unknown |
|
R4577:Ighg2b
|
UTSW |
12 |
113,270,512 (GRCm39) |
missense |
unknown |
|
R4589:Ighg2b
|
UTSW |
12 |
113,270,104 (GRCm39) |
missense |
unknown |
|
R4807:Ighg2b
|
UTSW |
12 |
113,267,965 (GRCm39) |
unclassified |
probably benign |
|
R4822:Ighg2b
|
UTSW |
12 |
113,270,011 (GRCm39) |
makesense |
probably null |
|
R5424:Ighg2b
|
UTSW |
12 |
113,271,550 (GRCm39) |
missense |
unknown |
|
R5641:Ighg2b
|
UTSW |
12 |
113,270,767 (GRCm39) |
missense |
unknown |
|
R6297:Ighg2b
|
UTSW |
12 |
113,270,512 (GRCm39) |
missense |
unknown |
|
R6701:Ighg2b
|
UTSW |
12 |
113,270,699 (GRCm39) |
missense |
unknown |
|
R6703:Ighg2b
|
UTSW |
12 |
113,268,653 (GRCm39) |
unclassified |
probably benign |
|
R6880:Ighg2b
|
UTSW |
12 |
113,270,726 (GRCm39) |
missense |
|
|
R7342:Ighg2b
|
UTSW |
12 |
113,270,050 (GRCm39) |
missense |
|
|
R7505:Ighg2b
|
UTSW |
12 |
113,268,600 (GRCm39) |
missense |
|
|
R7908:Ighg2b
|
UTSW |
12 |
113,270,074 (GRCm39) |
missense |
|
|
R8543:Ighg2b
|
UTSW |
12 |
113,270,552 (GRCm39) |
missense |
probably damaging |
1.00 |
R8951:Ighg2b
|
UTSW |
12 |
113,270,926 (GRCm39) |
missense |
probably benign |
|
R9237:Ighg2b
|
UTSW |
12 |
113,270,217 (GRCm39) |
missense |
|
|
R9539:Ighg2b
|
UTSW |
12 |
113,270,498 (GRCm39) |
missense |
|
|
R9789:Ighg2b
|
UTSW |
12 |
113,270,304 (GRCm39) |
missense |
|
|
|
Posted On |
2013-10-07 |