Incidental Mutation 'R2327:Irgm2'
| ID |
245719 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Irgm2
|
| Ensembl Gene |
ENSMUSG00000069874 |
| Gene Name |
immunity-related GTPase family M member 2 |
| Synonyms |
Iigp2, Gtpi |
| MMRRC Submission |
040318-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2327 (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 G
at 58111218 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 303
(D303G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104464
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058704]
[ENSMUST00000108836]
[ENSMUST00000209079]
|
| AlphaFold |
A0A140LIF8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000058704
AA Change: D303G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000056001
Gene: ENSMUSG00000069874
AA Change: D303G
| 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 damaging
Transcript: ENSMUST00000108836
AA Change: D303G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104464
Gene: ENSMUSG00000069874
AA Change: D303G
| 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 damaging
Transcript: ENSMUST00000209079
AA Change: D315G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 94.7%
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930578I06Rik |
A |
T |
14: 64,208,569 (GRCm39) |
|
probably null |
Het |
| Agbl4 |
T |
G |
4: 111,383,798 (GRCm39) |
S218A |
probably benign |
Het |
| Apol11b |
T |
C |
15: 77,522,153 (GRCm39) |
E48G |
probably damaging |
Het |
| Atp4a |
T |
A |
7: 30,419,666 (GRCm39) |
N676K |
probably benign |
Het |
| Capn5 |
T |
A |
7: 97,775,574 (GRCm39) |
S456C |
probably benign |
Het |
| Ccar1 |
T |
C |
10: 62,600,161 (GRCm39) |
Y590C |
probably damaging |
Het |
| Ccdc188 |
G |
T |
16: 18,037,070 (GRCm39) |
G283W |
probably damaging |
Het |
| Cd69 |
A |
G |
6: 129,248,351 (GRCm39) |
V45A |
probably damaging |
Het |
| Col3a1 |
G |
T |
1: 45,377,771 (GRCm39) |
|
probably benign |
Het |
| Cyb561a3 |
A |
T |
19: 10,564,166 (GRCm39) |
T169S |
probably benign |
Het |
| Cyp2c39 |
A |
T |
19: 39,527,397 (GRCm39) |
I248L |
probably benign |
Het |
| Cyp2j13 |
T |
C |
4: 95,947,344 (GRCm39) |
T236A |
possibly damaging |
Het |
| Efs |
A |
G |
14: 55,154,961 (GRCm39) |
V426A |
probably benign |
Het |
| Eme2 |
A |
G |
17: 25,113,157 (GRCm39) |
L136S |
probably damaging |
Het |
| Fastkd1 |
T |
A |
2: 69,535,872 (GRCm39) |
K312* |
probably null |
Het |
| Fbxl12 |
A |
G |
9: 20,553,530 (GRCm39) |
L19P |
probably damaging |
Het |
| Flg2 |
T |
A |
3: 93,110,913 (GRCm39) |
Y980* |
probably null |
Het |
| Fscn2 |
T |
A |
11: 120,257,527 (GRCm39) |
I296N |
probably damaging |
Het |
| Gabrg3 |
A |
G |
7: 56,384,835 (GRCm39) |
V242A |
probably benign |
Het |
| Galk2 |
A |
G |
2: 125,817,315 (GRCm39) |
H368R |
probably damaging |
Het |
| Gm12695 |
C |
T |
4: 96,657,893 (GRCm39) |
S92N |
probably benign |
Het |
| Gpalpp1 |
A |
T |
14: 76,336,031 (GRCm39) |
S196T |
probably benign |
Het |
| Gpld1 |
A |
T |
13: 25,168,804 (GRCm39) |
M773L |
probably benign |
Het |
| Haus8 |
A |
G |
8: 71,708,289 (GRCm39) |
|
probably null |
Het |
| Hirip3 |
A |
G |
7: 126,462,038 (GRCm39) |
R19G |
probably damaging |
Het |
| Inpp4a |
A |
G |
1: 37,405,247 (GRCm39) |
T92A |
probably damaging |
Het |
| Kpna2rt |
C |
A |
17: 90,217,697 (GRCm39) |
R16S |
probably benign |
Het |
| Krtap5-2 |
T |
G |
7: 141,728,748 (GRCm39) |
S311R |
unknown |
Het |
| Krtdap |
T |
A |
7: 30,489,185 (GRCm39) |
|
probably null |
Het |
| Lce1g |
G |
T |
3: 92,658,140 (GRCm39) |
S56Y |
unknown |
Het |
| Lrrn1 |
G |
A |
6: 107,545,794 (GRCm39) |
V531I |
probably benign |
Het |
| Mctp2 |
T |
C |
7: 71,861,358 (GRCm39) |
E429G |
probably damaging |
Het |
| Mrgpra2b |
T |
G |
7: 47,113,793 (GRCm39) |
D287A |
probably damaging |
Het |
| Mterf3 |
T |
C |
13: 67,076,258 (GRCm39) |
T150A |
probably damaging |
Het |
| Mtus2 |
A |
G |
5: 148,014,725 (GRCm39) |
N506S |
probably benign |
Het |
| Myh15 |
G |
T |
16: 48,963,313 (GRCm39) |
V1085L |
probably benign |
Het |
| Myo9a |
A |
G |
9: 59,687,048 (GRCm39) |
N51S |
probably benign |
Het |
| Nlrc3 |
A |
T |
16: 3,771,304 (GRCm39) |
L196Q |
probably damaging |
Het |
| Nlrp9c |
T |
A |
7: 26,074,747 (GRCm39) |
N816I |
probably damaging |
Het |
| Nsun2 |
T |
C |
13: 69,767,700 (GRCm39) |
V218A |
probably benign |
Het |
| Nt5dc1 |
T |
C |
10: 34,189,673 (GRCm39) |
E339G |
possibly damaging |
Het |
| Or10ak14 |
C |
T |
4: 118,611,331 (GRCm39) |
V135I |
probably benign |
Het |
| Or51b6b |
A |
G |
7: 103,309,779 (GRCm39) |
V226A |
probably damaging |
Het |
| Or8j3c |
A |
T |
2: 86,253,165 (GRCm39) |
L285* |
probably null |
Het |
| Pik3ap1 |
A |
G |
19: 41,284,828 (GRCm39) |
I619T |
probably damaging |
Het |
| Plk1 |
A |
G |
7: 121,759,118 (GRCm39) |
D118G |
probably benign |
Het |
| Ppat |
T |
C |
5: 77,070,314 (GRCm39) |
D168G |
possibly damaging |
Het |
| Preb |
T |
C |
5: 31,115,849 (GRCm39) |
E198G |
probably damaging |
Het |
| Psg21 |
T |
C |
7: 18,386,378 (GRCm39) |
T203A |
possibly damaging |
Het |
| Rbm17 |
A |
G |
2: 11,602,942 (GRCm39) |
V54A |
probably damaging |
Het |
| Rgma |
T |
A |
7: 73,067,574 (GRCm39) |
D276E |
probably damaging |
Het |
| Ric8a |
T |
C |
7: 140,439,471 (GRCm39) |
L77P |
probably damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Scarf1 |
A |
C |
11: 75,416,854 (GRCm39) |
E765D |
probably damaging |
Het |
| Scart1 |
A |
T |
7: 139,803,890 (GRCm39) |
N363Y |
possibly damaging |
Het |
| Sec14l4 |
G |
A |
11: 3,990,041 (GRCm39) |
M113I |
probably benign |
Het |
| Senp1 |
C |
T |
15: 97,980,165 (GRCm39) |
C60Y |
probably damaging |
Het |
| Slc22a21 |
T |
A |
11: 53,842,130 (GRCm39) |
K549N |
probably benign |
Het |
| Slc39a10 |
T |
C |
1: 46,875,156 (GRCm39) |
S49G |
probably damaging |
Het |
| Spata13 |
T |
C |
14: 60,947,004 (GRCm39) |
M684T |
probably damaging |
Het |
| Spns1 |
T |
C |
7: 125,969,958 (GRCm39) |
T481A |
probably damaging |
Het |
| Stag1 |
A |
G |
9: 100,668,666 (GRCm39) |
Y198C |
possibly damaging |
Het |
| Tgfbr1 |
T |
A |
4: 47,402,833 (GRCm39) |
V210E |
probably damaging |
Het |
| Tnc |
C |
T |
4: 63,893,475 (GRCm39) |
E1604K |
possibly damaging |
Het |
| Tspan31 |
T |
C |
10: 126,904,365 (GRCm39) |
D143G |
probably benign |
Het |
| Tspan5 |
T |
A |
3: 138,603,903 (GRCm39) |
Y131* |
probably null |
Het |
| Ttc21a |
A |
G |
9: 119,795,189 (GRCm39) |
D1070G |
probably damaging |
Het |
| Vmn2r26 |
C |
T |
6: 124,016,708 (GRCm39) |
P391S |
probably benign |
Het |
| Vmn2r72 |
A |
G |
7: 85,387,464 (GRCm39) |
I700T |
probably damaging |
Het |
| Vps13c |
A |
C |
9: 67,821,102 (GRCm39) |
N1204T |
probably damaging |
Het |
| Zfhx4 |
C |
T |
3: 5,468,418 (GRCm39) |
P2859S |
probably benign |
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 |
|
R2184:Irgm2
|
UTSW |
11 |
58,111,254 (GRCm39) |
missense |
probably benign |
0.01 |
|
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'- ACTTCCCAAAGCTTAGGGAGAC -3'
(R):5'- GAGGTAAAGCAGCACTTCATG -3'
Sequencing Primer
(F):5'- TGTCATCAAGTACCACGGC -3'
(R):5'- GGTAAAGCAGCACTTCATGTAGTC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation