Incidental Mutation 'R5065:Ighg2c'
ID |
388303 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ighg2c
|
Ensembl Gene |
ENSMUSG00000076612 |
Gene Name |
immunoglobulin heavy constant gamma 2C |
Synonyms |
|
MMRRC Submission |
042655-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.085)
|
Stock # |
R5065 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
113251009-113252552 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 113251708 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 140
(I140V)
|
Gene Model |
predicted gene model for transcript(s):
|
AlphaFold |
no structure available at present |
Predicted Effect |
unknown
Transcript: ENSMUST00000103416
AA Change: I140V
|
SMART Domains |
Protein: ENSMUSP00000100212 Gene: ENSMUSG00000076612 AA Change: I140V
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 |
unknown
Transcript: ENSMUST00000195192
AA Change: I140V
|
Meta Mutation Damage Score |
0.0869 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
Validation Efficiency |
100% (36/36) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310009B15Rik |
T |
A |
1: 138,779,893 (GRCm39) |
N120Y |
probably damaging |
Het |
A930011G23Rik |
G |
A |
5: 99,382,432 (GRCm39) |
T272M |
probably benign |
Het |
Aldh9a1 |
A |
G |
1: 167,180,128 (GRCm39) |
E74G |
probably damaging |
Het |
Asxl3 |
C |
G |
18: 22,658,356 (GRCm39) |
A2122G |
possibly damaging |
Het |
Bcl2l10 |
A |
T |
9: 75,255,261 (GRCm39) |
E26V |
possibly damaging |
Het |
Cspg4b |
T |
A |
13: 113,457,453 (GRCm39) |
H1166Q |
probably benign |
Het |
Dennd2a |
C |
A |
6: 39,472,110 (GRCm39) |
|
probably null |
Het |
Dock3 |
A |
G |
9: 106,832,883 (GRCm39) |
F129L |
probably damaging |
Het |
Gm4847 |
A |
T |
1: 166,462,359 (GRCm39) |
I377N |
probably damaging |
Het |
Gm8674 |
T |
C |
13: 50,056,613 (GRCm39) |
|
noncoding transcript |
Het |
Hhipl2 |
A |
T |
1: 183,207,580 (GRCm39) |
H433L |
probably benign |
Het |
Hsfy2 |
G |
A |
1: 56,675,626 (GRCm39) |
Q304* |
probably null |
Het |
Kmt2a |
T |
C |
9: 44,753,997 (GRCm39) |
|
probably benign |
Het |
Map3k5 |
A |
G |
10: 19,958,213 (GRCm39) |
E671G |
probably damaging |
Het |
Map6 |
A |
G |
7: 98,985,917 (GRCm39) |
D607G |
probably benign |
Het |
Mroh4 |
C |
T |
15: 74,500,119 (GRCm39) |
|
probably null |
Het |
Or10g6 |
A |
G |
9: 39,934,546 (GRCm39) |
I286V |
probably benign |
Het |
Pcsk6 |
A |
G |
7: 65,560,047 (GRCm39) |
D124G |
possibly damaging |
Het |
Pkhd1l1 |
T |
A |
15: 44,445,689 (GRCm39) |
N3790K |
possibly damaging |
Het |
Polr3b |
C |
A |
10: 84,468,402 (GRCm39) |
N129K |
probably benign |
Het |
Ptpn23 |
A |
T |
9: 110,227,256 (GRCm39) |
L31Q |
possibly damaging |
Het |
Sema3c |
A |
G |
5: 17,932,615 (GRCm39) |
N706S |
possibly damaging |
Het |
Sipa1l2 |
T |
C |
8: 126,218,324 (GRCm39) |
I338V |
probably benign |
Het |
Slc39a7 |
A |
G |
17: 34,250,033 (GRCm39) |
|
probably benign |
Het |
Snd1 |
C |
A |
6: 28,888,239 (GRCm39) |
N891K |
probably damaging |
Het |
Sntg1 |
A |
G |
1: 8,433,663 (GRCm39) |
|
probably benign |
Het |
Stxbp5 |
A |
T |
10: 9,646,295 (GRCm39) |
L780Q |
probably damaging |
Het |
Tacr1 |
G |
A |
6: 82,531,859 (GRCm39) |
V252M |
possibly damaging |
Het |
Tdrp |
T |
C |
8: 14,003,791 (GRCm39) |
E182G |
probably damaging |
Het |
Vmn1r58 |
A |
G |
7: 5,413,834 (GRCm39) |
I132T |
probably benign |
Het |
Wap |
A |
T |
11: 6,586,840 (GRCm39) |
N86K |
probably damaging |
Het |
|
Other mutations in Ighg2c |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02087:Ighg2c
|
APN |
12 |
113,248,986 (GRCm39) |
unclassified |
probably benign |
|
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 |
|
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 |
|
|
|
Predicted Primers |
PCR Primer
(F):5'- AGTCAGGATGCAGCTCTCAC -3'
(R):5'- AGTCACTAGACCAGAGCTCC -3'
Sequencing Primer
(F):5'- AGGATGCAGCTCTCACCTCTG -3'
(R):5'- AGCTCCACTCCAGGGAGAATG -3'
|
Posted On |
2016-06-06 |