Incidental Mutation 'R6565:Iigp1'
| ID |
522641 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Iigp1
|
| Ensembl Gene |
ENSMUSG00000054072 |
| Gene Name |
interferon inducible GTPase 1 |
| Synonyms |
2900074L10Rik, Irga6 |
| MMRRC Submission |
044689-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R6565 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
60509099-60525706 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 60523839 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 319
(V319E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063390
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032473]
[ENSMUST00000066912]
|
| AlphaFold |
Q9QZ85 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032473
AA Change: V319E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032473
Gene: ENSMUSG00000054072
AA Change: V319E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IIGP
|
35 |
409 |
5.5e-182 |
PFAM |
|
Pfam:MMR_HSR1
|
71 |
210 |
1.4e-7 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000066912
AA Change: V319E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000063390
Gene: ENSMUSG00000054072
AA Change: V319E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IIGP
|
35 |
409 |
7.9e-182 |
PFAM |
|
Pfam:MMR_HSR1
|
71 |
212 |
8.2e-9 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Targeted deletion of this gene results in partial loss of IFN-gamma-mediated Toxoplasma gondii growth restriction in primary mouse astrocytes. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1bg |
C |
A |
15: 60,792,659 (GRCm39) |
C96F |
probably damaging |
Het |
| Abca7 |
C |
T |
10: 79,847,622 (GRCm39) |
P1764L |
probably damaging |
Het |
| Acvr1 |
G |
A |
2: 58,369,769 (GRCm39) |
T80M |
probably damaging |
Het |
| Adgrb2 |
T |
C |
4: 129,913,069 (GRCm39) |
L1398P |
probably damaging |
Het |
| B4galnt3 |
G |
A |
6: 120,194,440 (GRCm39) |
Q362* |
probably null |
Het |
| Cadm3 |
G |
T |
1: 173,169,276 (GRCm39) |
Q246K |
possibly damaging |
Het |
| Cdc14b |
T |
C |
13: 64,373,444 (GRCm39) |
T110A |
probably benign |
Het |
| Cyp2c55 |
A |
C |
19: 39,030,566 (GRCm39) |
D466A |
probably benign |
Het |
| Dmrtb1 |
T |
C |
4: 107,536,542 (GRCm39) |
Y308C |
probably damaging |
Het |
| Fat3 |
T |
C |
9: 15,826,623 (GRCm39) |
D4443G |
probably benign |
Het |
| Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
| Grin2d |
A |
G |
7: 45,484,179 (GRCm39) |
L772P |
probably damaging |
Het |
| Gsdme |
T |
C |
6: 50,206,429 (GRCm39) |
N138S |
probably damaging |
Het |
| Hmgb4 |
T |
A |
4: 128,154,388 (GRCm39) |
Y60F |
probably benign |
Het |
| Ift172 |
G |
A |
5: 31,433,227 (GRCm39) |
A554V |
possibly damaging |
Het |
| Kit |
A |
G |
5: 75,806,513 (GRCm39) |
T673A |
probably damaging |
Het |
| Lilra6 |
A |
T |
7: 3,918,019 (GRCm39) |
W42R |
probably benign |
Het |
| Mia3 |
A |
T |
1: 183,112,340 (GRCm39) |
H477Q |
probably damaging |
Het |
| Oas1b |
C |
A |
5: 120,952,611 (GRCm39) |
Q101K |
possibly damaging |
Het |
| Or2v1 |
A |
G |
11: 49,025,639 (GRCm39) |
M207V |
probably damaging |
Het |
| Or51a5 |
T |
C |
7: 102,771,445 (GRCm39) |
H178R |
probably damaging |
Het |
| Plcl1 |
T |
A |
1: 55,737,117 (GRCm39) |
C819* |
probably null |
Het |
| Pmfbp1 |
C |
T |
8: 110,252,060 (GRCm39) |
Q402* |
probably null |
Het |
| Rps19bp1 |
CCTTCTTCTTCTTCTTCTTCTT |
CCTTCTTCTTCTTCTTCTT |
15: 80,145,250 (GRCm39) |
|
probably benign |
Het |
| Skor2 |
C |
G |
18: 76,947,607 (GRCm39) |
A443G |
possibly damaging |
Het |
| Tapbpl |
A |
G |
6: 125,205,307 (GRCm39) |
V213A |
probably benign |
Het |
| Trim52 |
G |
A |
14: 106,344,653 (GRCm39) |
D104N |
probably damaging |
Het |
|
| Other mutations in Iigp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00798:Iigp1
|
APN |
18 |
60,524,073 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03323:Iigp1
|
APN |
18 |
60,522,896 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0025:Iigp1
|
UTSW |
18 |
60,523,859 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0410:Iigp1
|
UTSW |
18 |
60,523,375 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0564:Iigp1
|
UTSW |
18 |
60,523,523 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0609:Iigp1
|
UTSW |
18 |
60,522,896 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1549:Iigp1
|
UTSW |
18 |
60,522,948 (GRCm39) |
missense |
probably benign |
|
|
R2226:Iigp1
|
UTSW |
18 |
60,522,960 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R2264:Iigp1
|
UTSW |
18 |
60,523,738 (GRCm39) |
missense |
probably benign |
0.20 |
|
R3110:Iigp1
|
UTSW |
18 |
60,523,983 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3112:Iigp1
|
UTSW |
18 |
60,523,983 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4575:Iigp1
|
UTSW |
18 |
60,523,218 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4795:Iigp1
|
UTSW |
18 |
60,522,964 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5439:Iigp1
|
UTSW |
18 |
60,523,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8775:Iigp1
|
UTSW |
18 |
60,523,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8775-TAIL:Iigp1
|
UTSW |
18 |
60,523,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9298:Iigp1
|
UTSW |
18 |
60,523,063 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9520:Iigp1
|
UTSW |
18 |
60,523,451 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GACAAGCTGATAAGTGACCTCCC -3'
(R):5'- GGAAGTAAGTACCCATTAGCCAAAC -3'
Sequencing Primer
(F):5'- TGATAAGTGACCTCCCTATCTACAAG -3'
(R):5'- GCCAAACAGAACTCCTGAATATATC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation