Incidental Mutation 'IGL02087:Ighg2c'
| ID |
279297 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ighg2c
|
| Ensembl Gene |
ENSMUSG00000076612 |
| Gene Name |
immunoglobulin heavy constant gamma 2C |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
IGL02087
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
113251009-113252552 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 113248986 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
unknown
Transcript: ENSMUST00000103416
AA Change: I391V
|
| SMART Domains |
Protein: ENSMUSP00000100212
Gene: ENSMUSG00000076612
AA Change: I391V
| Domain | Start | End | E-Value | Type |
|---|
|
IGc1
|
21 |
91 |
2.4e-15 |
SMART |
|
IG_like
|
143 |
218 |
1.64e-2 |
SMART |
|
IGc1
|
249 |
322 |
1.97e-34 |
SMART |
|
transmembrane domain
|
350 |
372 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195192
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asl |
C |
T |
5: 130,040,442 (GRCm39) |
W450* |
probably null |
Het |
| Copg1 |
T |
C |
6: 87,879,192 (GRCm39) |
Y413H |
possibly damaging |
Het |
| Ctsll3 |
G |
T |
13: 60,947,423 (GRCm39) |
H254Q |
possibly damaging |
Het |
| Ebf2 |
A |
G |
14: 67,665,545 (GRCm39) |
T568A |
probably benign |
Het |
| Etnppl |
C |
A |
3: 130,420,194 (GRCm39) |
S8R |
probably benign |
Het |
| Fry |
C |
A |
5: 150,327,059 (GRCm39) |
N1248K |
probably benign |
Het |
| Gpr55 |
A |
C |
1: 85,868,969 (GRCm39) |
I204S |
probably damaging |
Het |
| Hyal5 |
T |
A |
6: 24,876,724 (GRCm39) |
M199K |
probably damaging |
Het |
| Itga4 |
A |
G |
2: 79,122,413 (GRCm39) |
D542G |
probably damaging |
Het |
| Itgb2 |
T |
G |
10: 77,395,530 (GRCm39) |
Y544D |
possibly damaging |
Het |
| Lamb2 |
A |
G |
9: 108,364,318 (GRCm39) |
N1086D |
possibly damaging |
Het |
| Lhx2 |
C |
T |
2: 38,258,849 (GRCm39) |
|
probably benign |
Het |
| Nlrp4c |
T |
G |
7: 6,095,582 (GRCm39) |
L820R |
probably damaging |
Het |
| Or5p68 |
T |
A |
7: 107,946,173 (GRCm39) |
H5L |
probably benign |
Het |
| Phf20l1 |
C |
T |
15: 66,500,840 (GRCm39) |
S578F |
probably damaging |
Het |
| Pramel23 |
A |
T |
4: 143,423,644 (GRCm39) |
Y382N |
probably damaging |
Het |
| Ptpn3 |
A |
T |
4: 57,222,019 (GRCm39) |
D557E |
probably damaging |
Het |
| Slc6a6 |
G |
A |
6: 91,712,160 (GRCm39) |
V230I |
probably benign |
Het |
| Stap2 |
T |
C |
17: 56,312,473 (GRCm39) |
H20R |
probably damaging |
Het |
| Sult1c2 |
T |
C |
17: 54,279,068 (GRCm39) |
T83A |
possibly damaging |
Het |
| Tspyl2 |
A |
T |
X: 151,122,103 (GRCm39) |
D501E |
probably damaging |
Het |
| Unc13b |
A |
G |
4: 43,091,270 (GRCm39) |
K32R |
probably null |
Het |
| Wnt3 |
G |
A |
11: 103,703,185 (GRCm39) |
A223T |
probably benign |
Het |
| Zfpm2 |
A |
T |
15: 40,966,517 (GRCm39) |
N869Y |
probably damaging |
Het |
| Zranb1 |
T |
C |
7: 132,575,146 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Ighg2c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02560:Ighg2c
|
APN |
12 |
113,251,504 (GRCm39) |
missense |
unknown |
|
|
IGL03339:Ighg2c
|
APN |
12 |
113,251,614 (GRCm39) |
missense |
unknown |
|
|
R0047:Ighg2c
|
UTSW |
12 |
113,251,788 (GRCm39) |
splice site |
probably benign |
|
|
R0047:Ighg2c
|
UTSW |
12 |
113,251,788 (GRCm39) |
splice site |
probably benign |
|
|
R0415:Ighg2c
|
UTSW |
12 |
113,251,530 (GRCm39) |
missense |
unknown |
|
|
R0571:Ighg2c
|
UTSW |
12 |
113,252,382 (GRCm39) |
nonsense |
probably null |
|
|
R0634:Ighg2c
|
UTSW |
12 |
113,251,584 (GRCm39) |
missense |
unknown |
|
|
R0893:Ighg2c
|
UTSW |
12 |
113,251,053 (GRCm39) |
missense |
unknown |
|
|
R1169:Ighg2c
|
UTSW |
12 |
113,249,572 (GRCm39) |
unclassified |
probably benign |
|
|
R3895:Ighg2c
|
UTSW |
12 |
113,251,278 (GRCm39) |
missense |
unknown |
|
|
R5065:Ighg2c
|
UTSW |
12 |
113,251,708 (GRCm39) |
missense |
unknown |
|
|
R6407:Ighg2c
|
UTSW |
12 |
113,252,271 (GRCm39) |
missense |
unknown |
|
|
R6846:Ighg2c
|
UTSW |
12 |
113,251,930 (GRCm39) |
missense |
unknown |
|
|
R7052:Ighg2c
|
UTSW |
12 |
113,252,343 (GRCm39) |
missense |
|
|
|
R7231:Ighg2c
|
UTSW |
12 |
113,251,636 (GRCm39) |
missense |
|
|
|
R7513:Ighg2c
|
UTSW |
12 |
113,252,471 (GRCm39) |
missense |
|
|
|
R8783:Ighg2c
|
UTSW |
12 |
113,252,412 (GRCm39) |
missense |
|
|
|
R9175:Ighg2c
|
UTSW |
12 |
113,252,499 (GRCm39) |
missense |
|
|
|
R9419:Ighg2c
|
UTSW |
12 |
113,251,015 (GRCm39) |
critical splice donor site |
probably benign |
|
|
Z1177:Ighg2c
|
UTSW |
12 |
113,251,300 (GRCm39) |
missense |
|
|
|
| Posted On |
2015-04-16 |
Incidental Mutation