Incidental Mutation 'R2184:Irgm2'
ID |
237371 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Irgm2
|
Ensembl Gene |
ENSMUSG00000069874 |
Gene Name |
immunity-related GTPase family M member 2 |
Synonyms |
Iigp2, Gtpi |
MMRRC Submission |
040186-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2184 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
58105803-58113609 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 58111254 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 327
(N327I)
|
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: N315I
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000056001 Gene: ENSMUSG00000069874 AA Change: N315I
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: N315I
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000104464 Gene: ENSMUSG00000069874 AA Change: N315I
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: N327I
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
|
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700088E04Rik |
T |
C |
15: 79,019,389 (GRCm39) |
R184G |
probably damaging |
Het |
2300002M23Rik |
C |
A |
17: 35,879,115 (GRCm39) |
A151E |
probably benign |
Het |
A930011G23Rik |
C |
T |
5: 99,380,228 (GRCm39) |
R339Q |
possibly damaging |
Het |
Abcd2 |
T |
C |
15: 91,075,642 (GRCm39) |
Y57C |
probably benign |
Het |
Adprhl1 |
A |
G |
8: 13,292,559 (GRCm39) |
V244A |
probably benign |
Het |
Agl |
T |
C |
3: 116,574,426 (GRCm39) |
N753D |
probably benign |
Het |
Amotl1 |
T |
A |
9: 14,486,686 (GRCm39) |
M440L |
probably benign |
Het |
Angpt2 |
A |
G |
8: 18,742,132 (GRCm39) |
Y475H |
probably benign |
Het |
Angpt4 |
A |
T |
2: 151,780,874 (GRCm39) |
H374L |
probably damaging |
Het |
Ank1 |
A |
T |
8: 23,599,270 (GRCm39) |
T801S |
probably damaging |
Het |
Ap5m1 |
G |
T |
14: 49,323,752 (GRCm39) |
A481S |
probably damaging |
Het |
AY358078 |
G |
T |
14: 52,063,445 (GRCm39) |
G364W |
probably damaging |
Het |
C4b |
C |
A |
17: 34,956,676 (GRCm39) |
A641S |
probably benign |
Het |
Capn13 |
T |
C |
17: 73,672,943 (GRCm39) |
Y120C |
probably damaging |
Het |
Cbx6 |
T |
C |
15: 79,712,762 (GRCm39) |
T222A |
probably benign |
Het |
Cckar |
T |
C |
5: 53,860,254 (GRCm39) |
T192A |
probably damaging |
Het |
Cdc42bpb |
T |
C |
12: 111,262,478 (GRCm39) |
D30G |
probably damaging |
Het |
Cdk18 |
A |
G |
1: 132,043,690 (GRCm39) |
Y385H |
probably damaging |
Het |
Cep170 |
A |
T |
1: 176,584,542 (GRCm39) |
D612E |
probably benign |
Het |
Dennd4b |
G |
T |
3: 90,182,847 (GRCm39) |
R888L |
probably damaging |
Het |
Egf |
A |
T |
3: 129,517,007 (GRCm39) |
C373* |
probably null |
Het |
Gabrb2 |
T |
C |
11: 42,312,255 (GRCm39) |
|
probably null |
Het |
Gle1 |
G |
T |
2: 29,839,030 (GRCm39) |
A482S |
probably damaging |
Het |
Gm10644 |
T |
C |
8: 84,660,256 (GRCm39) |
T30A |
possibly damaging |
Het |
Gmnn |
A |
G |
13: 24,937,706 (GRCm39) |
Y95H |
probably damaging |
Het |
Hectd3 |
T |
A |
4: 116,858,100 (GRCm39) |
S643T |
possibly damaging |
Het |
Hoga1 |
A |
G |
19: 42,049,830 (GRCm39) |
Y225C |
probably damaging |
Het |
Hook3 |
T |
C |
8: 26,609,011 (GRCm39) |
E11G |
probably benign |
Het |
Hsd17b1 |
C |
A |
11: 100,969,357 (GRCm39) |
S30R |
probably benign |
Het |
Htr3b |
G |
A |
9: 48,858,544 (GRCm39) |
P112S |
probably damaging |
Het |
Iqch |
T |
A |
9: 63,432,351 (GRCm39) |
D348V |
probably damaging |
Het |
Itgb4 |
T |
C |
11: 115,870,450 (GRCm39) |
I93T |
probably damaging |
Het |
Lamb2 |
T |
C |
9: 108,357,752 (GRCm39) |
F92L |
probably damaging |
Het |
Lats2 |
T |
C |
14: 57,929,016 (GRCm39) |
H953R |
probably damaging |
Het |
Lrp1b |
T |
C |
2: 40,620,714 (GRCm39) |
E3588G |
probably benign |
Het |
Marchf1 |
A |
G |
8: 66,840,075 (GRCm39) |
E286G |
probably benign |
Het |
Mc2r |
G |
T |
18: 68,541,196 (GRCm39) |
F32L |
probably benign |
Het |
Mink1 |
C |
T |
11: 70,494,623 (GRCm39) |
T268M |
probably damaging |
Het |
Mta1 |
G |
A |
12: 113,093,815 (GRCm39) |
|
probably null |
Het |
Muc5b |
C |
A |
7: 141,412,601 (GRCm39) |
S1849* |
probably null |
Het |
Myh15 |
A |
G |
16: 48,957,874 (GRCm39) |
E897G |
probably damaging |
Het |
Nobox |
T |
C |
6: 43,281,819 (GRCm39) |
Q418R |
possibly damaging |
Het |
Obsl1 |
G |
T |
1: 75,478,861 (GRCm39) |
Q626K |
probably benign |
Het |
Or11h4 |
A |
G |
14: 50,974,059 (GRCm39) |
S187P |
probably damaging |
Het |
Or13a24 |
T |
C |
7: 140,154,315 (GRCm39) |
V83A |
probably benign |
Het |
Or1j12 |
A |
G |
2: 36,343,046 (GRCm39) |
T150A |
probably benign |
Het |
Or2w25 |
T |
A |
11: 59,503,964 (GRCm39) |
M58K |
probably damaging |
Het |
Or5w14 |
G |
A |
2: 87,541,549 (GRCm39) |
R234C |
probably damaging |
Het |
Or8k24 |
G |
A |
2: 86,216,489 (GRCm39) |
T91I |
probably benign |
Het |
Or9i1 |
A |
G |
19: 13,839,399 (GRCm39) |
I81V |
probably benign |
Het |
Pald1 |
C |
T |
10: 61,182,915 (GRCm39) |
A345T |
possibly damaging |
Het |
Pde8b |
G |
A |
13: 95,162,723 (GRCm39) |
P800S |
probably damaging |
Het |
Pgm2l1 |
G |
A |
7: 99,917,362 (GRCm39) |
C493Y |
possibly damaging |
Het |
Pias3 |
A |
G |
3: 96,609,537 (GRCm39) |
S311G |
possibly damaging |
Het |
Pkhd1l1 |
A |
G |
15: 44,362,692 (GRCm39) |
N573D |
possibly damaging |
Het |
Plaat3 |
A |
G |
19: 7,556,583 (GRCm39) |
D128G |
probably damaging |
Het |
Plxnc1 |
T |
G |
10: 94,780,131 (GRCm39) |
S104R |
probably damaging |
Het |
Pofut2 |
T |
A |
10: 77,103,059 (GRCm39) |
F179I |
probably damaging |
Het |
Prkcsh |
T |
A |
9: 21,916,028 (GRCm39) |
C112S |
probably damaging |
Het |
Prss32 |
G |
A |
17: 24,078,297 (GRCm39) |
A328T |
probably benign |
Het |
Ptgir |
G |
T |
7: 16,642,708 (GRCm39) |
R103L |
probably damaging |
Het |
Ptpn5 |
G |
A |
7: 46,738,350 (GRCm39) |
S244F |
probably damaging |
Het |
Rnpepl1 |
G |
A |
1: 92,844,545 (GRCm39) |
V346I |
probably benign |
Het |
Sh3rf1 |
T |
A |
8: 61,825,688 (GRCm39) |
V561D |
probably damaging |
Het |
Slc22a19 |
A |
T |
19: 7,687,026 (GRCm39) |
Y160N |
probably benign |
Het |
Sorbs3 |
A |
G |
14: 70,428,880 (GRCm39) |
|
probably null |
Het |
Sostdc1 |
T |
G |
12: 36,367,295 (GRCm39) |
I157S |
probably damaging |
Het |
Svil |
G |
T |
18: 5,099,534 (GRCm39) |
R1777L |
probably damaging |
Het |
Svil |
A |
T |
18: 5,099,615 (GRCm39) |
E1804V |
probably damaging |
Het |
Tasor |
T |
A |
14: 27,188,141 (GRCm39) |
N862K |
possibly damaging |
Het |
Thbs4 |
A |
G |
13: 92,911,302 (GRCm39) |
S294P |
probably benign |
Het |
Tle2 |
A |
G |
10: 81,426,111 (GRCm39) |
Y750C |
probably damaging |
Het |
Tmcc3 |
T |
C |
10: 94,418,168 (GRCm39) |
L312P |
probably damaging |
Het |
Tnip2 |
TCTCCT |
TCT |
5: 34,656,957 (GRCm39) |
|
probably benign |
Het |
Tnpo2 |
T |
A |
8: 85,780,475 (GRCm39) |
M734K |
probably benign |
Het |
Trmt2a |
A |
T |
16: 18,070,859 (GRCm39) |
R531W |
probably benign |
Het |
Ubn2 |
C |
T |
6: 38,461,029 (GRCm39) |
R483W |
probably damaging |
Het |
Zc3hav1 |
T |
A |
6: 38,284,343 (GRCm39) |
Y924F |
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 |
R0282:Irgm2
|
UTSW |
11 |
58,110,345 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
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'- CCCTTTACCAAGTCTGTGAGAAAAC -3'
(R):5'- AGAACTTCCTTGGCTTTGGC -3'
Sequencing Primer
(F):5'- CCAAGTCTGTGAGAAAACTGTTAATG -3'
(R):5'- CTTTGGCAGCAGTTTCATCAAG -3'
|
Posted On |
2014-10-02 |