Incidental Mutation 'IGL03173:Irgc'
| ID |
411922 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Irgc
|
| Ensembl Gene |
ENSMUSG00000062028 |
| Gene Name |
immunity related GTPase cinema |
| Synonyms |
Iigp5, LOC381989, Irgc1, F630044M05Rik, LOC210145 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.112)
|
| Stock # |
IGL03173
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
24131344-24145107 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 24132727 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 30
(E30G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146207
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080594]
[ENSMUST00000205385]
[ENSMUST00000205776]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080594
AA Change: E30G
PolyPhen 2
Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000104072
Gene: ENSMUSG00000062028
AA Change: E30G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IIGP
|
18 |
400 |
3.7e-99 |
PFAM |
|
Pfam:MMR_HSR1
|
54 |
167 |
2e-7 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000205385
AA Change: E30G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205776
AA Change: E30G
PolyPhen 2
Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
|
| 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 |
|---|
| Atg2b |
T |
C |
12: 105,624,553 (GRCm39) |
K649E |
possibly damaging |
Het |
| Cnnm4 |
A |
G |
1: 36,512,173 (GRCm39) |
|
probably benign |
Het |
| Cntrob |
C |
T |
11: 69,200,853 (GRCm39) |
A503T |
possibly damaging |
Het |
| D3Ertd751e |
T |
A |
3: 41,710,497 (GRCm39) |
Y170N |
probably damaging |
Het |
| Ddx23 |
T |
C |
15: 98,548,885 (GRCm39) |
I306V |
probably benign |
Het |
| Ep400 |
A |
G |
5: 110,856,737 (GRCm39) |
|
probably benign |
Het |
| Gmps |
T |
C |
3: 63,897,750 (GRCm39) |
V234A |
probably damaging |
Het |
| Hivep2 |
G |
T |
10: 14,003,726 (GRCm39) |
G108V |
possibly damaging |
Het |
| Krt75 |
T |
C |
15: 101,481,162 (GRCm39) |
Y204C |
probably damaging |
Het |
| Ms4a14 |
G |
A |
19: 11,281,560 (GRCm39) |
L333F |
possibly damaging |
Het |
| Or51l4 |
A |
G |
7: 103,404,183 (GRCm39) |
V203A |
probably benign |
Het |
| Or5an6 |
T |
A |
19: 12,372,410 (GRCm39) |
M261K |
possibly damaging |
Het |
| Or8k27 |
A |
T |
2: 86,275,788 (GRCm39) |
C179* |
probably null |
Het |
| Pitpnm3 |
G |
A |
11: 71,983,389 (GRCm39) |
T80I |
probably benign |
Het |
| Pou2f2 |
T |
C |
7: 24,799,371 (GRCm39) |
|
probably benign |
Het |
| Slc34a1 |
T |
C |
13: 55,561,089 (GRCm39) |
L518P |
probably damaging |
Het |
| Sorbs1 |
T |
A |
19: 40,351,706 (GRCm39) |
T235S |
probably damaging |
Het |
| Ssxa1 |
C |
T |
X: 20,985,224 (GRCm39) |
R41C |
probably benign |
Het |
| Syt2 |
A |
G |
1: 134,671,317 (GRCm39) |
N142D |
possibly damaging |
Het |
| Taf3 |
A |
G |
2: 9,957,738 (GRCm39) |
V143A |
probably damaging |
Het |
| Trav13-5 |
T |
C |
14: 54,033,534 (GRCm39) |
|
probably benign |
Het |
| Tti1 |
A |
G |
2: 157,848,932 (GRCm39) |
|
probably benign |
Het |
| Vmn2r13 |
T |
C |
5: 109,319,645 (GRCm39) |
E445G |
possibly damaging |
Het |
| Zfp663 |
G |
T |
2: 165,194,419 (GRCm39) |
T600K |
probably damaging |
Het |
| Zfp750 |
G |
A |
11: 121,404,651 (GRCm39) |
Q75* |
probably null |
Het |
|
| Other mutations in Irgc |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02378:Irgc
|
APN |
7 |
24,131,500 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02571:Irgc
|
APN |
7 |
24,132,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0200:Irgc
|
UTSW |
7 |
24,131,431 (GRCm39) |
missense |
probably benign |
|
|
R0234:Irgc
|
UTSW |
7 |
24,132,753 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0234:Irgc
|
UTSW |
7 |
24,132,753 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0318:Irgc
|
UTSW |
7 |
24,131,896 (GRCm39) |
missense |
probably benign |
0.27 |
|
R4651:Irgc
|
UTSW |
7 |
24,132,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4652:Irgc
|
UTSW |
7 |
24,132,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5072:Irgc
|
UTSW |
7 |
24,132,196 (GRCm39) |
missense |
probably benign |
|
|
R5366:Irgc
|
UTSW |
7 |
24,132,851 (GRCm39) |
start gained |
probably benign |
|
|
R7424:Irgc
|
UTSW |
7 |
24,131,653 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7801:Irgc
|
UTSW |
7 |
24,131,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8263:Irgc
|
UTSW |
7 |
24,132,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8967:Irgc
|
UTSW |
7 |
24,132,737 (GRCm39) |
missense |
probably benign |
|
|
R9365:Irgc
|
UTSW |
7 |
24,131,872 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9491:Irgc
|
UTSW |
7 |
24,132,349 (GRCm39) |
missense |
probably benign |
0.21 |
|
Z1177:Irgc
|
UTSW |
7 |
24,132,380 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Posted On |
2016-08-02 |
Incidental Mutation