Incidental Mutation 'R0282:Irgm2'
ID |
37628 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Irgm2
|
Ensembl Gene |
ENSMUSG00000069874 |
Gene Name |
immunity-related GTPase family M member 2 |
Synonyms |
Iigp2, Gtpi |
MMRRC Submission |
038504-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0282 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
58105803-58113609 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 58110345 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 24
(E24G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146805
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058704]
[ENSMUST00000108836]
[ENSMUST00000209079]
|
AlphaFold |
A0A140LIF8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000058704
AA Change: E12G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000056001 Gene: ENSMUSG00000069874 AA Change: E12G
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: ENSMUST00000108836
AA Change: E12G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000104464 Gene: ENSMUSG00000069874 AA Change: E12G
Domain | Start | End | E-Value | Type |
Pfam:IIGP
|
30 |
387 |
4.9e-164 |
PFAM |
Pfam:MMR_HSR1
|
66 |
179 |
2.2e-6 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209079
AA Change: E24G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.7%
|
Validation Efficiency |
100% (72/72) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the p47 immunity-related GTPase family. The encoded protein may play a role in the innate immune response by regulating autophagy formation in response to intracellular pathogens. Polymorphisms that affect the normal expression of this gene are associated with a susceptibility to Crohn's disease and tuberculosis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsbg3 |
T |
A |
17: 57,192,169 (GRCm39) |
Y577* |
probably null |
Het |
Afap1l2 |
A |
G |
19: 56,904,653 (GRCm39) |
S549P |
possibly damaging |
Het |
Alcam |
A |
T |
16: 52,116,104 (GRCm39) |
C157S |
probably damaging |
Het |
Aldh1a1 |
T |
C |
19: 20,606,413 (GRCm39) |
|
probably benign |
Het |
Ano8 |
G |
A |
8: 71,933,258 (GRCm39) |
|
probably benign |
Het |
Atr |
T |
C |
9: 95,744,851 (GRCm39) |
V56A |
probably benign |
Het |
Aurkc |
T |
A |
7: 7,005,427 (GRCm39) |
|
probably null |
Het |
Bnip3 |
T |
C |
7: 138,499,759 (GRCm39) |
D76G |
probably damaging |
Het |
Cbr1 |
A |
G |
16: 93,407,022 (GRCm39) |
E246G |
possibly damaging |
Het |
Ccdc157 |
G |
T |
11: 4,096,708 (GRCm39) |
A449D |
probably damaging |
Het |
Ces3b |
T |
A |
8: 105,810,483 (GRCm39) |
V26D |
probably benign |
Het |
Colgalt2 |
G |
T |
1: 152,384,312 (GRCm39) |
A551S |
possibly damaging |
Het |
Crk |
G |
T |
11: 75,594,195 (GRCm39) |
G261C |
probably damaging |
Het |
Ctbp1 |
A |
G |
5: 33,408,200 (GRCm39) |
|
probably null |
Het |
Ctnna1 |
G |
A |
18: 35,377,175 (GRCm39) |
V572I |
possibly damaging |
Het |
D430041D05Rik |
T |
C |
2: 104,031,589 (GRCm39) |
Y1669C |
probably damaging |
Het |
Dnah8 |
T |
C |
17: 30,955,130 (GRCm39) |
F2053S |
probably damaging |
Het |
Dner |
G |
A |
1: 84,383,686 (GRCm39) |
T566M |
probably damaging |
Het |
Dner |
A |
G |
1: 84,423,101 (GRCm39) |
|
probably benign |
Het |
Edrf1 |
T |
C |
7: 133,245,751 (GRCm39) |
V223A |
probably benign |
Het |
Fam169a |
A |
G |
13: 97,234,223 (GRCm39) |
|
probably benign |
Het |
Fbxl3 |
G |
A |
14: 103,332,661 (GRCm39) |
H106Y |
probably damaging |
Het |
Fiz1 |
A |
G |
7: 5,012,200 (GRCm39) |
V106A |
probably benign |
Het |
Gapvd1 |
T |
A |
2: 34,578,972 (GRCm39) |
R654* |
probably null |
Het |
Gm7589 |
G |
A |
9: 59,053,288 (GRCm39) |
|
noncoding transcript |
Het |
Ifi202b |
A |
T |
1: 173,804,926 (GRCm39) |
S9T |
probably benign |
Het |
Ipmk |
G |
C |
10: 71,208,661 (GRCm39) |
S149T |
probably benign |
Het |
Itga2b |
A |
C |
11: 102,351,672 (GRCm39) |
V551G |
probably damaging |
Het |
Itgad |
C |
T |
7: 127,789,150 (GRCm39) |
|
probably benign |
Het |
Kcnh8 |
T |
A |
17: 53,032,879 (GRCm39) |
F55L |
probably damaging |
Het |
Kdr |
G |
A |
5: 76,110,760 (GRCm39) |
|
probably benign |
Het |
Krt35 |
T |
C |
11: 99,986,573 (GRCm39) |
Y147C |
probably damaging |
Het |
Lamc1 |
A |
G |
1: 153,131,058 (GRCm39) |
F298L |
probably benign |
Het |
Lrrk2 |
T |
C |
15: 91,662,617 (GRCm39) |
|
probably benign |
Het |
Matn1 |
T |
C |
4: 130,673,238 (GRCm39) |
S69P |
probably damaging |
Het |
Micall1 |
G |
T |
15: 79,016,101 (GRCm39) |
|
probably benign |
Het |
Msto1 |
A |
G |
3: 88,818,884 (GRCm39) |
V257A |
possibly damaging |
Het |
Mybpc3 |
G |
C |
2: 90,954,369 (GRCm39) |
|
probably benign |
Het |
Mycn |
A |
G |
12: 12,987,314 (GRCm39) |
V361A |
probably benign |
Het |
Myo10 |
A |
G |
15: 25,793,253 (GRCm39) |
T1277A |
probably damaging |
Het |
Myo3a |
T |
C |
2: 22,250,409 (GRCm39) |
I92T |
probably benign |
Het |
Nup50l |
T |
C |
6: 96,141,797 (GRCm39) |
T416A |
probably benign |
Het |
Or10g1 |
A |
G |
14: 52,647,720 (GRCm39) |
V203A |
possibly damaging |
Het |
Or2k2 |
A |
G |
4: 58,785,344 (GRCm39) |
I126T |
probably damaging |
Het |
Or4c104 |
G |
A |
2: 88,586,800 (GRCm39) |
T73I |
probably damaging |
Het |
Or56b1b |
T |
A |
7: 108,164,684 (GRCm39) |
Q106L |
probably damaging |
Het |
Otog |
C |
T |
7: 45,926,917 (GRCm39) |
T1222I |
possibly damaging |
Het |
P4ha1 |
C |
T |
10: 59,172,970 (GRCm39) |
T23M |
probably damaging |
Het |
Pld1 |
A |
T |
3: 28,132,422 (GRCm39) |
I537F |
probably benign |
Het |
Plekhn1 |
A |
G |
4: 156,312,780 (GRCm39) |
|
probably benign |
Het |
Pxdn |
C |
A |
12: 30,034,439 (GRCm39) |
S8* |
probably null |
Het |
Rnf135 |
A |
T |
11: 80,084,784 (GRCm39) |
I186F |
probably damaging |
Het |
Rock2 |
T |
C |
12: 17,027,887 (GRCm39) |
|
probably benign |
Het |
Rph3a |
C |
A |
5: 121,101,973 (GRCm39) |
G88* |
probably null |
Het |
Sarm1 |
G |
A |
11: 78,365,806 (GRCm39) |
Q740* |
probably null |
Het |
Setd1b |
C |
A |
5: 123,299,080 (GRCm39) |
|
probably benign |
Het |
Sidt1 |
A |
G |
16: 44,102,249 (GRCm39) |
S304P |
possibly damaging |
Het |
Slc2a4 |
A |
T |
11: 69,837,181 (GRCm39) |
V85E |
probably damaging |
Het |
Swi5 |
A |
G |
2: 32,170,766 (GRCm39) |
Y54H |
probably damaging |
Het |
Sycp1 |
A |
G |
3: 102,823,111 (GRCm39) |
|
probably benign |
Het |
Tarm1 |
T |
C |
7: 3,546,006 (GRCm39) |
Y87C |
probably damaging |
Het |
Tmem67 |
G |
A |
4: 12,087,930 (GRCm39) |
T72M |
probably damaging |
Het |
Tor1a |
A |
G |
2: 30,857,737 (GRCm39) |
Y44H |
possibly damaging |
Het |
Ttll5 |
T |
C |
12: 86,042,827 (GRCm39) |
Y1128H |
probably benign |
Het |
Usp40 |
G |
A |
1: 87,908,680 (GRCm39) |
|
probably benign |
Het |
Vmn2r18 |
A |
T |
5: 151,508,668 (GRCm39) |
M152K |
probably benign |
Het |
Xirp2 |
T |
A |
2: 67,343,724 (GRCm39) |
D1988E |
probably damaging |
Het |
Zfp420 |
A |
G |
7: 29,575,105 (GRCm39) |
I442V |
probably benign |
Het |
Zyx |
A |
G |
6: 42,332,939 (GRCm39) |
E363G |
probably damaging |
Het |
|
Other mutations in Irgm2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01843:Irgm2
|
APN |
11 |
58,111,167 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01933:Irgm2
|
APN |
11 |
58,110,783 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02115:Irgm2
|
APN |
11 |
58,110,948 (GRCm39) |
missense |
probably benign |
0.21 |
IGL02398:Irgm2
|
APN |
11 |
58,110,755 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02708:Irgm2
|
APN |
11 |
58,111,350 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02730:Irgm2
|
APN |
11 |
58,110,816 (GRCm39) |
missense |
probably benign |
0.26 |
R1621:Irgm2
|
UTSW |
11 |
58,111,364 (GRCm39) |
missense |
probably benign |
|
R1717:Irgm2
|
UTSW |
11 |
58,111,461 (GRCm39) |
missense |
probably damaging |
1.00 |
R1980:Irgm2
|
UTSW |
11 |
58,110,902 (GRCm39) |
missense |
probably damaging |
0.99 |
R1986:Irgm2
|
UTSW |
11 |
58,110,384 (GRCm39) |
missense |
probably benign |
0.00 |
R2145:Irgm2
|
UTSW |
11 |
58,111,355 (GRCm39) |
missense |
possibly damaging |
0.90 |
R2184:Irgm2
|
UTSW |
11 |
58,111,254 (GRCm39) |
missense |
probably benign |
0.01 |
R2327:Irgm2
|
UTSW |
11 |
58,111,218 (GRCm39) |
missense |
probably damaging |
1.00 |
R4041:Irgm2
|
UTSW |
11 |
58,110,956 (GRCm39) |
missense |
probably benign |
0.00 |
R4231:Irgm2
|
UTSW |
11 |
58,110,304 (GRCm39) |
start gained |
probably benign |
|
R5988:Irgm2
|
UTSW |
11 |
58,111,013 (GRCm39) |
missense |
probably benign |
0.39 |
R6143:Irgm2
|
UTSW |
11 |
58,111,435 (GRCm39) |
missense |
possibly damaging |
0.55 |
R6508:Irgm2
|
UTSW |
11 |
58,110,327 (GRCm39) |
missense |
probably benign |
|
R6528:Irgm2
|
UTSW |
11 |
58,110,878 (GRCm39) |
missense |
probably benign |
0.10 |
R6851:Irgm2
|
UTSW |
11 |
58,110,641 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7351:Irgm2
|
UTSW |
11 |
58,110,431 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7434:Irgm2
|
UTSW |
11 |
58,110,291 (GRCm39) |
missense |
probably benign |
0.01 |
R8951:Irgm2
|
UTSW |
11 |
58,110,408 (GRCm39) |
missense |
possibly damaging |
0.83 |
R9163:Irgm2
|
UTSW |
11 |
58,111,280 (GRCm39) |
missense |
probably damaging |
1.00 |
R9664:Irgm2
|
UTSW |
11 |
58,110,872 (GRCm39) |
missense |
possibly damaging |
0.63 |
Z1186:Irgm2
|
UTSW |
11 |
58,111,238 (GRCm39) |
missense |
possibly damaging |
0.80 |
Z1186:Irgm2
|
UTSW |
11 |
58,110,951 (GRCm39) |
missense |
probably benign |
0.00 |
Z1186:Irgm2
|
UTSW |
11 |
58,110,924 (GRCm39) |
missense |
probably benign |
0.00 |
Z1186:Irgm2
|
UTSW |
11 |
58,110,833 (GRCm39) |
missense |
probably benign |
0.44 |
Z1186:Irgm2
|
UTSW |
11 |
58,110,780 (GRCm39) |
missense |
probably benign |
0.01 |
Z1186:Irgm2
|
UTSW |
11 |
58,110,738 (GRCm39) |
missense |
probably benign |
0.01 |
Z1186:Irgm2
|
UTSW |
11 |
58,110,389 (GRCm39) |
missense |
probably benign |
0.03 |
Z1186:Irgm2
|
UTSW |
11 |
58,110,339 (GRCm39) |
missense |
probably benign |
|
Z1186:Irgm2
|
UTSW |
11 |
58,111,389 (GRCm39) |
missense |
probably benign |
0.01 |
Z1187:Irgm2
|
UTSW |
11 |
58,111,389 (GRCm39) |
missense |
probably benign |
0.01 |
Z1187:Irgm2
|
UTSW |
11 |
58,110,339 (GRCm39) |
missense |
probably benign |
|
Z1187:Irgm2
|
UTSW |
11 |
58,110,389 (GRCm39) |
missense |
probably benign |
0.03 |
Z1187:Irgm2
|
UTSW |
11 |
58,110,738 (GRCm39) |
missense |
probably benign |
0.01 |
Z1187:Irgm2
|
UTSW |
11 |
58,110,780 (GRCm39) |
missense |
probably benign |
0.01 |
Z1187:Irgm2
|
UTSW |
11 |
58,110,833 (GRCm39) |
missense |
probably benign |
0.44 |
Z1187:Irgm2
|
UTSW |
11 |
58,110,924 (GRCm39) |
missense |
probably benign |
0.00 |
Z1187:Irgm2
|
UTSW |
11 |
58,110,951 (GRCm39) |
missense |
probably benign |
0.00 |
Z1187:Irgm2
|
UTSW |
11 |
58,111,238 (GRCm39) |
missense |
possibly damaging |
0.80 |
Z1188:Irgm2
|
UTSW |
11 |
58,111,238 (GRCm39) |
missense |
possibly damaging |
0.80 |
Z1188:Irgm2
|
UTSW |
11 |
58,110,951 (GRCm39) |
missense |
probably benign |
0.00 |
Z1188:Irgm2
|
UTSW |
11 |
58,110,924 (GRCm39) |
missense |
probably benign |
0.00 |
Z1188:Irgm2
|
UTSW |
11 |
58,110,833 (GRCm39) |
missense |
probably benign |
0.44 |
Z1188:Irgm2
|
UTSW |
11 |
58,110,780 (GRCm39) |
missense |
probably benign |
0.01 |
Z1188:Irgm2
|
UTSW |
11 |
58,110,738 (GRCm39) |
missense |
probably benign |
0.01 |
Z1188:Irgm2
|
UTSW |
11 |
58,110,389 (GRCm39) |
missense |
probably benign |
0.03 |
Z1188:Irgm2
|
UTSW |
11 |
58,110,339 (GRCm39) |
missense |
probably benign |
|
Z1188:Irgm2
|
UTSW |
11 |
58,111,389 (GRCm39) |
missense |
probably benign |
0.01 |
Z1189:Irgm2
|
UTSW |
11 |
58,111,238 (GRCm39) |
missense |
possibly damaging |
0.80 |
Z1189:Irgm2
|
UTSW |
11 |
58,110,951 (GRCm39) |
missense |
probably benign |
0.00 |
Z1189:Irgm2
|
UTSW |
11 |
58,110,924 (GRCm39) |
missense |
probably benign |
0.00 |
Z1189:Irgm2
|
UTSW |
11 |
58,110,833 (GRCm39) |
missense |
probably benign |
0.44 |
Z1189:Irgm2
|
UTSW |
11 |
58,110,780 (GRCm39) |
missense |
probably benign |
0.01 |
Z1189:Irgm2
|
UTSW |
11 |
58,110,738 (GRCm39) |
missense |
probably benign |
0.01 |
Z1189:Irgm2
|
UTSW |
11 |
58,110,389 (GRCm39) |
missense |
probably benign |
0.03 |
Z1189:Irgm2
|
UTSW |
11 |
58,110,339 (GRCm39) |
missense |
probably benign |
|
Z1189:Irgm2
|
UTSW |
11 |
58,111,389 (GRCm39) |
missense |
probably benign |
0.01 |
Z1190:Irgm2
|
UTSW |
11 |
58,111,389 (GRCm39) |
missense |
probably benign |
0.01 |
Z1190:Irgm2
|
UTSW |
11 |
58,110,339 (GRCm39) |
missense |
probably benign |
|
Z1190:Irgm2
|
UTSW |
11 |
58,110,389 (GRCm39) |
missense |
probably benign |
0.03 |
Z1190:Irgm2
|
UTSW |
11 |
58,110,738 (GRCm39) |
missense |
probably benign |
0.01 |
Z1190:Irgm2
|
UTSW |
11 |
58,110,780 (GRCm39) |
missense |
probably benign |
0.01 |
Z1190:Irgm2
|
UTSW |
11 |
58,110,833 (GRCm39) |
missense |
probably benign |
0.44 |
Z1190:Irgm2
|
UTSW |
11 |
58,110,924 (GRCm39) |
missense |
probably benign |
0.00 |
Z1190:Irgm2
|
UTSW |
11 |
58,110,951 (GRCm39) |
missense |
probably benign |
0.00 |
Z1190:Irgm2
|
UTSW |
11 |
58,111,238 (GRCm39) |
missense |
possibly damaging |
0.80 |
Z1191:Irgm2
|
UTSW |
11 |
58,111,238 (GRCm39) |
missense |
possibly damaging |
0.80 |
Z1191:Irgm2
|
UTSW |
11 |
58,110,951 (GRCm39) |
missense |
probably benign |
0.00 |
Z1191:Irgm2
|
UTSW |
11 |
58,110,924 (GRCm39) |
missense |
probably benign |
0.00 |
Z1191:Irgm2
|
UTSW |
11 |
58,110,833 (GRCm39) |
missense |
probably benign |
0.44 |
Z1191:Irgm2
|
UTSW |
11 |
58,110,780 (GRCm39) |
missense |
probably benign |
0.01 |
Z1191:Irgm2
|
UTSW |
11 |
58,110,738 (GRCm39) |
missense |
probably benign |
0.01 |
Z1191:Irgm2
|
UTSW |
11 |
58,110,389 (GRCm39) |
missense |
probably benign |
0.03 |
Z1191:Irgm2
|
UTSW |
11 |
58,110,339 (GRCm39) |
missense |
probably benign |
|
Z1191:Irgm2
|
UTSW |
11 |
58,111,389 (GRCm39) |
missense |
probably benign |
0.01 |
Z1192:Irgm2
|
UTSW |
11 |
58,111,238 (GRCm39) |
missense |
possibly damaging |
0.80 |
Z1192:Irgm2
|
UTSW |
11 |
58,110,951 (GRCm39) |
missense |
probably benign |
0.00 |
Z1192:Irgm2
|
UTSW |
11 |
58,110,924 (GRCm39) |
missense |
probably benign |
0.00 |
Z1192:Irgm2
|
UTSW |
11 |
58,110,833 (GRCm39) |
missense |
probably benign |
0.44 |
Z1192:Irgm2
|
UTSW |
11 |
58,110,780 (GRCm39) |
missense |
probably benign |
0.01 |
Z1192:Irgm2
|
UTSW |
11 |
58,110,738 (GRCm39) |
missense |
probably benign |
0.01 |
Z1192:Irgm2
|
UTSW |
11 |
58,110,389 (GRCm39) |
missense |
probably benign |
0.03 |
Z1192:Irgm2
|
UTSW |
11 |
58,110,339 (GRCm39) |
missense |
probably benign |
|
Z1192:Irgm2
|
UTSW |
11 |
58,111,389 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGCCTGACATTCCAGTGTTCAGC -3'
(R):5'- GATGACATGCCATTGCCAGAGTCC -3'
Sequencing Primer
(F):5'- TTGCCTTCCAAGAAAGTGCG -3'
(R):5'- ATTGCCAGAGTCCCCAGTC -3'
|
Posted On |
2013-05-23 |