Incidental Mutation 'R3428:Igtp'
ID |
267966 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Igtp
|
Ensembl Gene |
ENSMUSG00000078853 |
Gene Name |
interferon gamma induced GTPase |
Synonyms |
Irgm3 |
MMRRC Submission |
040646-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3428 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
58090382-58098417 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 58097419 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 197
(V197I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047356
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035266]
[ENSMUST00000058704]
[ENSMUST00000094169]
[ENSMUST00000168280]
|
AlphaFold |
Q9DCE9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000035266
AA Change: V197I
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000047356 Gene: ENSMUSG00000078853 AA Change: V197I
Domain | Start | End | E-Value | Type |
Pfam:IIGP
|
50 |
412 |
4.6e-161 |
PFAM |
Pfam:MMR_HSR1
|
86 |
200 |
1.1e-6 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000058704
|
SMART Domains |
Protein: ENSMUSP00000056001 Gene: ENSMUSG00000069874
Domain | Start | End | E-Value | Type |
Pfam:IIGP
|
30 |
387 |
8.1e-165 |
PFAM |
Pfam:MMR_HSR1
|
66 |
179 |
9.3e-7 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000094169
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168280
|
Meta Mutation Damage Score |
0.2731 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
100% (34/34) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for disruptions in this gene display an essentially normal phenotype. They do have a severely compromised response to Toxoplasma gondii infections however [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam18 |
C |
A |
8: 25,157,620 (GRCm39) |
C110F |
probably damaging |
Het |
Adamts14 |
C |
T |
10: 61,060,153 (GRCm39) |
E452K |
probably benign |
Het |
Adrb3 |
T |
C |
8: 27,718,209 (GRCm39) |
D80G |
probably damaging |
Het |
Alg5 |
T |
A |
3: 54,643,006 (GRCm39) |
M1K |
probably null |
Het |
Ap1g1 |
A |
G |
8: 110,570,080 (GRCm39) |
E398G |
probably damaging |
Het |
Arhgap17 |
A |
T |
7: 122,922,854 (GRCm39) |
L85Q |
probably damaging |
Het |
Bbs9 |
T |
A |
9: 22,479,183 (GRCm39) |
|
probably benign |
Het |
BC034090 |
T |
C |
1: 155,117,244 (GRCm39) |
I291M |
probably benign |
Het |
Bicd1 |
T |
C |
6: 149,414,400 (GRCm39) |
L371P |
probably damaging |
Het |
Cand2 |
A |
C |
6: 115,766,668 (GRCm39) |
R424S |
probably benign |
Het |
Eng |
G |
T |
2: 32,547,545 (GRCm39) |
V29F |
probably damaging |
Het |
Gm5828 |
T |
A |
1: 16,838,838 (GRCm39) |
|
noncoding transcript |
Het |
Hspg2 |
T |
C |
4: 137,282,601 (GRCm39) |
L3447P |
probably damaging |
Het |
Kmt2a |
T |
A |
9: 44,759,416 (GRCm39) |
N844I |
probably benign |
Het |
Lyzl4 |
T |
C |
9: 121,413,195 (GRCm39) |
I78V |
probably null |
Het |
Mtg2 |
A |
G |
2: 179,726,065 (GRCm39) |
H225R |
possibly damaging |
Het |
Or10a5 |
G |
A |
7: 106,635,923 (GRCm39) |
R187K |
probably benign |
Het |
Pfpl |
T |
A |
19: 12,407,677 (GRCm39) |
S643T |
probably benign |
Het |
Prelid1 |
T |
G |
13: 55,470,007 (GRCm39) |
V2G |
probably benign |
Het |
Psma2 |
A |
T |
13: 14,791,362 (GRCm39) |
K2N |
probably benign |
Het |
Sec24d |
C |
T |
3: 123,137,572 (GRCm39) |
|
probably benign |
Het |
Setd1a |
G |
T |
7: 127,384,493 (GRCm39) |
|
probably benign |
Het |
Slc20a1 |
A |
T |
2: 129,042,202 (GRCm39) |
N149I |
probably benign |
Het |
Slc22a5 |
A |
G |
11: 53,760,152 (GRCm39) |
V388A |
probably benign |
Het |
Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Trav6-7-dv9 |
A |
G |
14: 53,947,788 (GRCm39) |
T97A |
probably benign |
Het |
Trpv3 |
A |
T |
11: 73,176,767 (GRCm39) |
Y382F |
probably damaging |
Het |
Ubr2 |
T |
C |
17: 47,279,365 (GRCm39) |
Y681C |
probably damaging |
Het |
Unc80 |
G |
A |
1: 66,678,464 (GRCm39) |
V2082I |
probably benign |
Het |
Vmn2r125 |
A |
G |
4: 156,702,436 (GRCm39) |
D74G |
probably benign |
Het |
Yipf2 |
T |
C |
9: 21,500,941 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Igtp |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01138:Igtp
|
APN |
11 |
58,096,970 (GRCm39) |
missense |
possibly damaging |
0.66 |
IGL03326:Igtp
|
APN |
11 |
58,097,054 (GRCm39) |
missense |
probably benign |
0.01 |
R0281:Igtp
|
UTSW |
11 |
58,096,880 (GRCm39) |
missense |
probably damaging |
0.97 |
R2762:Igtp
|
UTSW |
11 |
58,096,891 (GRCm39) |
missense |
possibly damaging |
0.91 |
R3426:Igtp
|
UTSW |
11 |
58,097,419 (GRCm39) |
missense |
probably damaging |
0.99 |
R3427:Igtp
|
UTSW |
11 |
58,097,419 (GRCm39) |
missense |
probably damaging |
0.99 |
R4484:Igtp
|
UTSW |
11 |
58,097,824 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4588:Igtp
|
UTSW |
11 |
58,097,508 (GRCm39) |
missense |
probably damaging |
1.00 |
R5299:Igtp
|
UTSW |
11 |
58,097,959 (GRCm39) |
missense |
possibly damaging |
0.79 |
R5652:Igtp
|
UTSW |
11 |
58,097,455 (GRCm39) |
missense |
probably benign |
0.07 |
R5662:Igtp
|
UTSW |
11 |
58,097,105 (GRCm39) |
missense |
probably damaging |
1.00 |
R5893:Igtp
|
UTSW |
11 |
58,097,474 (GRCm39) |
missense |
probably damaging |
1.00 |
R7657:Igtp
|
UTSW |
11 |
58,097,654 (GRCm39) |
missense |
probably benign |
0.02 |
R7738:Igtp
|
UTSW |
11 |
58,097,906 (GRCm39) |
missense |
probably benign |
0.00 |
R7989:Igtp
|
UTSW |
11 |
58,097,205 (GRCm39) |
missense |
probably damaging |
0.99 |
R8920:Igtp
|
UTSW |
11 |
58,096,999 (GRCm39) |
missense |
probably damaging |
0.98 |
R8986:Igtp
|
UTSW |
11 |
58,096,947 (GRCm39) |
critical splice donor site |
probably null |
|
R9103:Igtp
|
UTSW |
11 |
58,097,726 (GRCm39) |
missense |
|
|
R9180:Igtp
|
UTSW |
11 |
58,098,091 (GRCm39) |
nonsense |
probably null |
|
R9375:Igtp
|
UTSW |
11 |
58,097,026 (GRCm39) |
missense |
probably damaging |
1.00 |
R9502:Igtp
|
UTSW |
11 |
58,097,800 (GRCm39) |
missense |
possibly damaging |
0.91 |
Z1186:Igtp
|
UTSW |
11 |
58,097,169 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1186:Igtp
|
UTSW |
11 |
58,097,791 (GRCm39) |
missense |
possibly damaging |
0.55 |
Z1186:Igtp
|
UTSW |
11 |
58,097,944 (GRCm39) |
missense |
probably benign |
0.00 |
Z1187:Igtp
|
UTSW |
11 |
58,097,944 (GRCm39) |
missense |
probably benign |
0.00 |
Z1187:Igtp
|
UTSW |
11 |
58,097,791 (GRCm39) |
missense |
possibly damaging |
0.55 |
Z1187:Igtp
|
UTSW |
11 |
58,097,169 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1188:Igtp
|
UTSW |
11 |
58,097,944 (GRCm39) |
missense |
probably benign |
0.00 |
Z1188:Igtp
|
UTSW |
11 |
58,097,791 (GRCm39) |
missense |
possibly damaging |
0.55 |
Z1188:Igtp
|
UTSW |
11 |
58,097,169 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1189:Igtp
|
UTSW |
11 |
58,097,944 (GRCm39) |
missense |
probably benign |
0.00 |
Z1189:Igtp
|
UTSW |
11 |
58,097,791 (GRCm39) |
missense |
possibly damaging |
0.55 |
Z1189:Igtp
|
UTSW |
11 |
58,097,169 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1190:Igtp
|
UTSW |
11 |
58,097,791 (GRCm39) |
missense |
possibly damaging |
0.55 |
Z1190:Igtp
|
UTSW |
11 |
58,097,416 (GRCm39) |
missense |
possibly damaging |
0.84 |
Z1190:Igtp
|
UTSW |
11 |
58,097,169 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1190:Igtp
|
UTSW |
11 |
58,097,944 (GRCm39) |
missense |
probably benign |
0.00 |
Z1191:Igtp
|
UTSW |
11 |
58,097,944 (GRCm39) |
missense |
probably benign |
0.00 |
Z1191:Igtp
|
UTSW |
11 |
58,097,791 (GRCm39) |
missense |
possibly damaging |
0.55 |
Z1191:Igtp
|
UTSW |
11 |
58,097,169 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1192:Igtp
|
UTSW |
11 |
58,097,944 (GRCm39) |
missense |
probably benign |
0.00 |
Z1192:Igtp
|
UTSW |
11 |
58,097,791 (GRCm39) |
missense |
possibly damaging |
0.55 |
Z1192:Igtp
|
UTSW |
11 |
58,097,169 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTTTCCCTATGTGGAGCTGTG -3'
(R):5'- CTGTACCTGATGCTGAAGATGTC -3'
Sequencing Primer
(F):5'- CCTATGTGGAGCTGTGGGACC -3'
(R):5'- ACCTGATGCTGAAGATGTCTTTTTGC -3'
|
Posted On |
2015-02-18 |