Incidental Mutation 'IGL02571:Irgc'
| ID |
299006 |
| 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: 0.111)
|
| Stock # |
IGL02571
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
24131344-24145107 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 24132016 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 267
(K267R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145975
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080594]
[ENSMUST00000205385]
[ENSMUST00000205776]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000080594
AA Change: K267R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000104072
Gene: ENSMUSG00000062028
AA Change: K267R
| 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 benign
Transcript: ENSMUST00000205385
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000205776
AA Change: K267R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| 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 |
|---|
| Atp8a2 |
T |
C |
14: 60,249,907 (GRCm39) |
|
probably benign |
Het |
| Cacna2d2 |
G |
A |
9: 107,402,845 (GRCm39) |
E885K |
possibly damaging |
Het |
| Cyp4f17 |
A |
G |
17: 32,743,878 (GRCm39) |
E352G |
probably benign |
Het |
| Dip2b |
T |
C |
15: 100,055,766 (GRCm39) |
W373R |
possibly damaging |
Het |
| Garin3 |
G |
T |
11: 46,296,072 (GRCm39) |
R148L |
probably damaging |
Het |
| Gem |
C |
A |
4: 11,713,628 (GRCm39) |
Q255K |
probably benign |
Het |
| Herc1 |
T |
C |
9: 66,341,887 (GRCm39) |
|
probably benign |
Het |
| Herc2 |
A |
T |
7: 55,803,134 (GRCm39) |
N2161I |
probably damaging |
Het |
| Ift172 |
A |
G |
5: 31,415,235 (GRCm39) |
F1325L |
probably damaging |
Het |
| Kif1a |
A |
G |
1: 92,948,178 (GRCm39) |
|
probably null |
Het |
| Lifr |
G |
T |
15: 7,219,592 (GRCm39) |
|
probably benign |
Het |
| Mrpl12 |
A |
G |
11: 120,376,258 (GRCm39) |
|
probably null |
Het |
| Mrps18c |
A |
G |
5: 100,949,841 (GRCm39) |
D74G |
probably damaging |
Het |
| Mtus1 |
C |
T |
8: 41,536,519 (GRCm39) |
G399D |
possibly damaging |
Het |
| Nf1 |
T |
C |
11: 79,319,453 (GRCm39) |
I536T |
probably damaging |
Het |
| Or5a3 |
C |
A |
19: 12,400,250 (GRCm39) |
S192R |
possibly damaging |
Het |
| Pcdh9 |
A |
G |
14: 93,798,023 (GRCm39) |
|
probably benign |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Rubcnl |
A |
T |
14: 75,269,576 (GRCm39) |
Q78L |
possibly damaging |
Het |
| Sis |
C |
A |
3: 72,863,637 (GRCm39) |
|
probably benign |
Het |
| Tbc1d2 |
T |
C |
4: 46,628,370 (GRCm39) |
M320V |
probably benign |
Het |
| Vmn1r178 |
C |
T |
7: 23,593,660 (GRCm39) |
T236I |
probably damaging |
Het |
| Xpc |
T |
C |
6: 91,481,053 (GRCm39) |
D273G |
probably benign |
Het |
| Zfhx4 |
A |
C |
3: 5,394,583 (GRCm39) |
N1033T |
probably damaging |
Het |
| Zfp646 |
A |
G |
7: 127,478,584 (GRCm39) |
T254A |
probably damaging |
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 |
|
IGL03173:Irgc
|
APN |
7 |
24,132,727 (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 |
2015-04-16 |
Incidental Mutation