Incidental Mutation 'R3427:Igtp'
| ID |
267927 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Igtp
|
| Ensembl Gene |
ENSMUSG00000078853 |
| Gene Name |
interferon gamma induced GTPase |
| Synonyms |
Irgm3 |
| MMRRC Submission |
040645-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3427 (G1)
|
| Quality Score |
225 |
|
Status
|
Not 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 |
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl11 |
T |
A |
9: 107,806,969 (GRCm39) |
F431I |
probably damaging |
Het |
| Asb18 |
C |
T |
1: 89,896,315 (GRCm39) |
G242S |
probably damaging |
Het |
| Atp13a3 |
T |
C |
16: 30,163,411 (GRCm39) |
I582V |
probably benign |
Het |
| BC034090 |
T |
C |
1: 155,117,244 (GRCm39) |
I291M |
probably benign |
Het |
| Bsph1 |
T |
C |
7: 13,206,168 (GRCm39) |
Y78H |
probably damaging |
Het |
| Chd6 |
G |
T |
2: 160,832,175 (GRCm39) |
T999N |
probably damaging |
Het |
| Cps1 |
T |
A |
1: 67,213,653 (GRCm39) |
V795E |
probably damaging |
Het |
| Crhr1 |
A |
G |
11: 104,064,419 (GRCm39) |
|
probably null |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Ctbp2 |
A |
T |
7: 132,593,321 (GRCm39) |
H793Q |
probably damaging |
Het |
| Cul5 |
T |
C |
9: 53,529,190 (GRCm39) |
M805V |
probably benign |
Het |
| Dctn3 |
T |
C |
4: 41,719,858 (GRCm39) |
K83E |
probably damaging |
Het |
| Ep300 |
A |
G |
15: 81,485,480 (GRCm39) |
N156D |
unknown |
Het |
| Epb42 |
A |
T |
2: 120,860,520 (GRCm39) |
L160M |
probably damaging |
Het |
| Exosc2 |
T |
C |
2: 31,569,900 (GRCm39) |
L237P |
probably damaging |
Het |
| Fiz1 |
A |
G |
7: 5,015,708 (GRCm39) |
F94S |
probably damaging |
Het |
| Gm5422 |
A |
G |
10: 31,124,842 (GRCm39) |
|
noncoding transcript |
Het |
| Igsf9b |
T |
C |
9: 27,245,873 (GRCm39) |
F1280S |
probably damaging |
Het |
| Kcnh1 |
T |
C |
1: 191,924,238 (GRCm39) |
F151L |
probably benign |
Het |
| Nudc |
C |
T |
4: 133,261,568 (GRCm39) |
G239S |
probably benign |
Het |
| Or6c215 |
T |
C |
10: 129,637,720 (GRCm39) |
K225E |
possibly damaging |
Het |
| Plekhb1 |
T |
C |
7: 100,294,857 (GRCm39) |
Y172C |
probably damaging |
Het |
| Plscr4 |
T |
C |
9: 92,370,797 (GRCm39) |
S255P |
probably damaging |
Het |
| Rbm26 |
A |
G |
14: 105,368,968 (GRCm39) |
V737A |
probably damaging |
Het |
| Rps6ka4 |
C |
A |
19: 6,815,123 (GRCm39) |
|
probably null |
Het |
| Rsf1 |
GCG |
GCGACGGCGTCG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Rttn |
G |
A |
18: 89,113,775 (GRCm39) |
|
probably null |
Het |
| Slc22a5 |
A |
G |
11: 53,760,152 (GRCm39) |
V388A |
probably benign |
Het |
| Strip1 |
T |
C |
3: 107,524,138 (GRCm39) |
H593R |
possibly damaging |
Het |
| Sycp1 |
A |
T |
3: 102,783,666 (GRCm39) |
C603S |
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 |
| Trpc1 |
C |
T |
9: 95,614,249 (GRCm39) |
R5Q |
probably benign |
Het |
| Trpv3 |
A |
T |
11: 73,176,767 (GRCm39) |
Y382F |
probably damaging |
Het |
| Unc80 |
G |
A |
1: 66,678,464 (GRCm39) |
V2082I |
probably benign |
Het |
| Vmn2r63 |
A |
G |
7: 42,576,406 (GRCm39) |
F469S |
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 |
|
R3428: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'- CTCTGTACCTGATGCTGAAGATG -3'
Sequencing Primer
(F):5'- CCTATGTGGAGCTGTGGGACC -3'
(R):5'- ACCTGATGCTGAAGATGTCTTTTTGC -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation