Incidental Mutation 'R4588:Igtp'
| ID |
342627 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Igtp
|
| Ensembl Gene |
ENSMUSG00000078853 |
| Gene Name |
interferon gamma induced GTPase |
| Synonyms |
Irgm3 |
| MMRRC Submission |
042007-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4588 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
58090382-58098417 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 58097508 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 226
(N226K)
|
| 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: N226K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000047356
Gene: ENSMUSG00000078853
AA Change: N226K
| 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 |
0.4264 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
98% (51/52) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
G |
T |
10: 79,833,701 (GRCm39) |
|
probably null |
Het |
| Abcb4 |
A |
T |
5: 8,997,328 (GRCm39) |
I936F |
probably benign |
Het |
| Adnp2 |
G |
T |
18: 80,171,863 (GRCm39) |
L849I |
probably benign |
Het |
| Atf7ip |
T |
C |
6: 136,576,692 (GRCm39) |
S1032P |
probably benign |
Het |
| Atr |
A |
C |
9: 95,747,720 (GRCm39) |
D334A |
probably benign |
Het |
| Atrip |
A |
T |
9: 108,889,347 (GRCm39) |
D20E |
probably damaging |
Het |
| Atxn7 |
T |
A |
14: 14,096,268 (GRCm38) |
C43* |
probably null |
Het |
| Cfap65 |
C |
A |
1: 74,943,215 (GRCm39) |
Q1603H |
possibly damaging |
Het |
| Cpne5 |
T |
C |
17: 29,383,687 (GRCm39) |
I327V |
probably benign |
Het |
| Ctsa |
T |
C |
2: 164,676,070 (GRCm39) |
S41P |
possibly damaging |
Het |
| Cyp4x1 |
A |
T |
4: 114,965,994 (GRCm39) |
L444Q |
probably damaging |
Het |
| Dchs1 |
C |
A |
7: 105,405,248 (GRCm39) |
M2431I |
probably benign |
Het |
| Ddi1 |
T |
A |
9: 6,266,003 (GRCm39) |
H122L |
probably benign |
Het |
| Defa21 |
C |
T |
8: 21,515,664 (GRCm39) |
P21S |
probably damaging |
Het |
| Ect2 |
A |
G |
3: 27,201,149 (GRCm39) |
V77A |
probably damaging |
Het |
| Ermap |
C |
A |
4: 119,045,445 (GRCm39) |
|
probably benign |
Het |
| Fancm |
G |
A |
12: 65,165,215 (GRCm39) |
|
probably null |
Het |
| Gcnt3 |
T |
A |
9: 69,941,512 (GRCm39) |
D352V |
probably damaging |
Het |
| Gys2 |
A |
G |
6: 142,395,181 (GRCm39) |
M428T |
possibly damaging |
Het |
| Itpr2 |
T |
A |
6: 146,142,694 (GRCm39) |
H1675L |
probably benign |
Het |
| Lipo4 |
G |
A |
19: 33,476,647 (GRCm39) |
P367L |
possibly damaging |
Het |
| Lzts3 |
T |
C |
2: 130,476,686 (GRCm39) |
*587W |
probably null |
Het |
| Mast3 |
T |
A |
8: 71,233,251 (GRCm39) |
K300* |
probably null |
Het |
| Mepce |
G |
A |
5: 137,783,534 (GRCm39) |
T264I |
possibly damaging |
Het |
| Mif4gd |
A |
T |
11: 115,500,372 (GRCm39) |
I62N |
probably damaging |
Het |
| Or14a260 |
C |
T |
7: 85,984,852 (GRCm39) |
V251I |
probably benign |
Het |
| Or7e175 |
T |
A |
9: 20,049,383 (GRCm39) |
*324K |
probably null |
Het |
| Palm3 |
A |
G |
8: 84,756,015 (GRCm39) |
K509R |
probably benign |
Het |
| Pde11a |
T |
C |
2: 75,859,647 (GRCm39) |
T821A |
probably damaging |
Het |
| Pik3r5 |
A |
G |
11: 68,384,087 (GRCm39) |
|
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,271,092 (GRCm39) |
T3154A |
probably benign |
Het |
| Ptprs |
A |
G |
17: 56,732,534 (GRCm39) |
Y438H |
probably damaging |
Het |
| Rdh8 |
T |
A |
9: 20,734,025 (GRCm39) |
D70E |
probably benign |
Het |
| Scn2a |
A |
T |
2: 65,544,111 (GRCm39) |
I831L |
possibly damaging |
Het |
| Selenoo |
A |
G |
15: 88,980,921 (GRCm39) |
H420R |
probably benign |
Het |
| Slc22a16 |
T |
C |
10: 40,446,677 (GRCm39) |
|
probably benign |
Het |
| Slc5a1 |
A |
G |
5: 33,302,632 (GRCm39) |
T208A |
probably benign |
Het |
| Sparc |
T |
C |
11: 55,296,062 (GRCm39) |
M121V |
probably benign |
Het |
| Sstr1 |
G |
T |
12: 58,260,417 (GRCm39) |
A347S |
probably benign |
Het |
| Stab1 |
C |
A |
14: 30,879,402 (GRCm39) |
V693F |
probably benign |
Het |
| Tnn |
A |
G |
1: 159,972,681 (GRCm39) |
V307A |
probably benign |
Het |
| Trmt1 |
A |
G |
8: 85,417,382 (GRCm39) |
|
probably benign |
Het |
| Ttc3 |
T |
C |
16: 94,243,760 (GRCm39) |
S1255P |
probably benign |
Het |
| Ube2ql1 |
A |
C |
13: 69,887,276 (GRCm39) |
S62A |
unknown |
Het |
| Vmn2r84 |
T |
A |
10: 130,221,809 (GRCm39) |
M804L |
probably damaging |
Het |
| Vps13a |
T |
C |
19: 16,617,403 (GRCm39) |
T3002A |
probably damaging |
Het |
| Vps50 |
A |
G |
6: 3,562,306 (GRCm39) |
E467G |
probably damaging |
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 |
|
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 |
|
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'- GCAGATCAGCACATTTGACC -3'
(R):5'- CATGAGCATCTGATCTTCCTTCAG -3'
Sequencing Primer
(F):5'- GCAGATCAGCACATTTGACCTTATC -3'
(R):5'- CTTCAGAGAGAACGCCTTATTGCTG -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation