Incidental Mutation 'R2762:Igtp'
ID |
254108 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Igtp
|
Ensembl Gene |
ENSMUSG00000078853 |
Gene Name |
interferon gamma induced GTPase |
Synonyms |
Irgm3 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2762 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
58090382-58098417 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 58096891 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 21
(M21V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047356
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035266]
[ENSMUST00000058704]
[ENSMUST00000094169]
[ENSMUST00000168280]
|
AlphaFold |
Q9DCE9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035266
AA Change: M21V
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000047356 Gene: ENSMUSG00000078853 AA Change: M21V
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 |
unknown
Transcript: ENSMUST00000094169
AA Change: M21V
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168280
AA Change: M21V
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
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: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahnak2 |
T |
A |
12: 112,748,984 (GRCm39) |
T288S |
probably damaging |
Het |
Alg11 |
C |
A |
8: 22,558,095 (GRCm39) |
A469E |
probably benign |
Het |
Baiap3 |
A |
G |
17: 25,463,549 (GRCm39) |
L909P |
probably damaging |
Het |
Bicd1 |
C |
T |
6: 149,421,901 (GRCm39) |
A874V |
probably damaging |
Het |
Dusp3 |
T |
C |
11: 101,865,661 (GRCm39) |
T178A |
probably benign |
Het |
En2 |
T |
C |
5: 28,375,419 (GRCm39) |
S321P |
probably damaging |
Het |
Ext1 |
G |
A |
15: 53,208,323 (GRCm39) |
S146L |
probably benign |
Het |
Gm9923 |
C |
A |
10: 72,145,460 (GRCm39) |
H104N |
probably benign |
Het |
Irs2 |
T |
C |
8: 11,056,408 (GRCm39) |
S675G |
probably damaging |
Het |
Klhl36 |
T |
A |
8: 120,596,713 (GRCm39) |
L138Q |
probably damaging |
Het |
Kmt2d |
T |
C |
15: 98,749,936 (GRCm39) |
|
probably benign |
Het |
Nox3 |
A |
G |
17: 3,746,433 (GRCm39) |
V35A |
probably benign |
Het |
Osbpl1a |
T |
C |
18: 12,899,956 (GRCm39) |
D274G |
possibly damaging |
Het |
Plec |
C |
T |
15: 76,056,486 (GRCm39) |
G4349S |
probably damaging |
Het |
Ppip5k2 |
A |
C |
1: 97,645,234 (GRCm39) |
S1073R |
probably damaging |
Het |
Prkcq |
A |
G |
2: 11,237,451 (GRCm39) |
K77E |
possibly damaging |
Het |
Prss1 |
T |
C |
6: 41,440,215 (GRCm39) |
V184A |
possibly damaging |
Het |
Rnf111 |
T |
A |
9: 70,383,327 (GRCm39) |
H202L |
possibly damaging |
Het |
S100pbp |
G |
A |
4: 129,049,219 (GRCm39) |
R308* |
probably null |
Het |
Sgcb |
A |
T |
5: 73,793,052 (GRCm39) |
|
probably null |
Het |
Spam1 |
T |
C |
6: 24,796,642 (GRCm39) |
F198L |
possibly damaging |
Het |
Tbc1d4 |
A |
C |
14: 101,731,797 (GRCm39) |
C472G |
probably damaging |
Het |
Tonsl |
T |
C |
15: 76,514,820 (GRCm39) |
N1128S |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,628,447 (GRCm39) |
R14571Q |
probably damaging |
Het |
Tubb4a |
T |
A |
17: 57,387,974 (GRCm39) |
T351S |
probably benign |
Het |
Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
Wasl |
T |
C |
6: 24,619,500 (GRCm39) |
Y340C |
unknown |
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 |
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 |
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'- CAATGTGAAGTGCTGTGCAG -3'
(R):5'- CCAGTCACAGCAATCTTTACTCTG -3'
Sequencing Primer
(F):5'- CTGGAGAGCAAGCCCATC -3'
(R):5'- ACAGCAATCTTTACTCTGTATCTTG -3'
|
Posted On |
2014-12-04 |