Incidental Mutation 'R4231:Irgm2'
| ID |
320866 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Irgm2
|
| Ensembl Gene |
ENSMUSG00000069874 |
| Gene Name |
immunity-related GTPase family M member 2 |
| Synonyms |
Iigp2, Gtpi |
| MMRRC Submission |
041050-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4231 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
58105803-58113609 bp(+) (GRCm39) |
| Type of Mutation |
start gained |
| DNA Base Change (assembly) |
C to T
at 58110304 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104464
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058704]
[ENSMUST00000108836]
[ENSMUST00000209079]
|
| AlphaFold |
A0A140LIF8 |
| 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: ENSMUST00000108836
|
| SMART Domains |
Protein: ENSMUSP00000104464
Gene: ENSMUSG00000069874
| 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 |
silent
Transcript: ENSMUST00000209079
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
99% (75/76) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930567H17Rik |
C |
T |
X: 69,438,135 (GRCm39) |
A53T |
probably benign |
Het |
| Ajuba |
T |
C |
14: 54,806,983 (GRCm39) |
R490G |
probably damaging |
Het |
| Akap6 |
A |
T |
12: 53,187,821 (GRCm39) |
D1745V |
probably damaging |
Het |
| Aldh5a1 |
C |
T |
13: 25,095,636 (GRCm39) |
G494R |
probably damaging |
Het |
| Ankar |
T |
C |
1: 72,697,701 (GRCm39) |
D1034G |
probably benign |
Het |
| Aox3 |
T |
A |
1: 58,154,044 (GRCm39) |
N23K |
probably benign |
Het |
| Arhgef18 |
T |
C |
8: 3,500,317 (GRCm39) |
I541T |
possibly damaging |
Het |
| Atg14 |
T |
C |
14: 47,788,802 (GRCm39) |
K184E |
probably benign |
Het |
| Bltp1 |
C |
T |
3: 36,974,385 (GRCm39) |
T663I |
probably benign |
Het |
| Cacnb2 |
A |
G |
2: 14,986,251 (GRCm39) |
K343E |
probably damaging |
Het |
| Casp8 |
T |
C |
1: 58,883,929 (GRCm39) |
V432A |
probably damaging |
Het |
| Cd93 |
A |
T |
2: 148,284,880 (GRCm39) |
H155Q |
probably benign |
Het |
| Cox6b2 |
T |
C |
7: 4,755,834 (GRCm39) |
M1V |
probably null |
Het |
| Crat |
T |
C |
2: 30,303,023 (GRCm39) |
E88G |
possibly damaging |
Het |
| Ddx1 |
C |
T |
12: 13,273,858 (GRCm39) |
V590I |
possibly damaging |
Het |
| Dip2a |
G |
A |
10: 76,155,304 (GRCm39) |
P94S |
probably damaging |
Het |
| Dtx3 |
A |
G |
10: 127,029,058 (GRCm39) |
I60T |
possibly damaging |
Het |
| Filip1l |
T |
C |
16: 57,327,131 (GRCm39) |
S54P |
probably benign |
Het |
| Gm12887 |
A |
T |
4: 121,479,299 (GRCm39) |
M1K |
probably null |
Het |
| Gm26678 |
T |
C |
3: 54,540,504 (GRCm39) |
|
noncoding transcript |
Het |
| Impg1 |
A |
G |
9: 80,252,611 (GRCm39) |
L523P |
probably damaging |
Het |
| Insyn2b |
A |
T |
11: 34,353,143 (GRCm39) |
E395V |
probably benign |
Het |
| Ip6k2 |
G |
A |
9: 108,682,847 (GRCm39) |
R319Q |
probably benign |
Het |
| Irak2 |
A |
G |
6: 113,667,817 (GRCm39) |
E466G |
probably damaging |
Het |
| Jak3 |
T |
A |
8: 72,138,189 (GRCm39) |
V880D |
probably damaging |
Het |
| Jmy |
G |
T |
13: 93,635,433 (GRCm39) |
P128T |
probably benign |
Het |
| Kif20a |
A |
G |
18: 34,765,091 (GRCm39) |
N775S |
probably benign |
Het |
| Kremen1 |
G |
A |
11: 5,193,881 (GRCm39) |
Q50* |
probably null |
Het |
| Lrrc71 |
A |
G |
3: 87,648,298 (GRCm39) |
I438T |
probably benign |
Het |
| Map3k1 |
T |
C |
13: 111,905,028 (GRCm39) |
T374A |
probably benign |
Het |
| Med12l |
T |
G |
3: 59,164,644 (GRCm39) |
|
probably null |
Het |
| Mrps30 |
T |
C |
13: 118,523,376 (GRCm39) |
D132G |
probably damaging |
Het |
| Mta1 |
T |
C |
12: 113,099,447 (GRCm39) |
M603T |
possibly damaging |
Het |
| Myo5a |
A |
G |
9: 75,097,279 (GRCm39) |
N1319S |
possibly damaging |
Het |
| Nalcn |
T |
A |
14: 123,837,325 (GRCm39) |
Q13L |
probably benign |
Het |
| Nbas |
A |
G |
12: 13,443,344 (GRCm39) |
N1133S |
probably damaging |
Het |
| Nsun2 |
A |
G |
13: 69,767,660 (GRCm39) |
N205D |
probably damaging |
Het |
| Nxpe4 |
A |
T |
9: 48,310,137 (GRCm39) |
T467S |
probably damaging |
Het |
| Or13a20 |
T |
C |
7: 140,232,653 (GRCm39) |
Y254H |
probably damaging |
Het |
| Or4f17-ps1 |
C |
T |
2: 111,358,546 (GRCm39) |
R314C |
probably damaging |
Het |
| Or7g30 |
T |
A |
9: 19,352,886 (GRCm39) |
L226I |
probably damaging |
Het |
| Pam |
A |
G |
1: 97,811,849 (GRCm39) |
|
probably null |
Het |
| Pcdh7 |
G |
A |
5: 57,876,631 (GRCm39) |
G62D |
possibly damaging |
Het |
| Plxna2 |
C |
T |
1: 194,326,762 (GRCm39) |
T232I |
probably damaging |
Het |
| Prkar1b |
A |
G |
5: 139,094,376 (GRCm39) |
S71P |
probably benign |
Het |
| Ptprq |
A |
T |
10: 107,522,144 (GRCm39) |
Y602* |
probably null |
Het |
| Rfx4 |
A |
T |
10: 84,650,558 (GRCm39) |
M84L |
probably benign |
Het |
| Rfx7 |
A |
T |
9: 72,526,672 (GRCm39) |
E1287D |
possibly damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Rnf216 |
A |
T |
5: 143,078,845 (GRCm39) |
S35T |
probably damaging |
Het |
| Rps6kc1 |
A |
G |
1: 190,541,097 (GRCm39) |
V402A |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sart3 |
A |
G |
5: 113,909,479 (GRCm39) |
M73T |
probably benign |
Het |
| Scn10a |
G |
T |
9: 119,460,610 (GRCm39) |
T1088K |
probably damaging |
Het |
| Senp2 |
T |
C |
16: 21,830,304 (GRCm39) |
|
probably null |
Het |
| Setd7 |
T |
C |
3: 51,450,151 (GRCm39) |
N92D |
probably benign |
Het |
| Sipa1 |
A |
T |
19: 5,704,117 (GRCm39) |
L735Q |
probably damaging |
Het |
| Skint11 |
C |
A |
4: 114,101,856 (GRCm39) |
Q99K |
probably benign |
Het |
| Slitrk6 |
A |
T |
14: 110,988,820 (GRCm39) |
S296T |
probably benign |
Het |
| Spc24 |
T |
C |
9: 21,667,498 (GRCm39) |
|
probably null |
Het |
| Tex15 |
T |
C |
8: 34,062,165 (GRCm39) |
S806P |
probably damaging |
Het |
| Tgm3 |
A |
T |
2: 129,886,509 (GRCm39) |
K577* |
probably null |
Het |
| Wscd2 |
A |
G |
5: 113,699,045 (GRCm39) |
D200G |
probably benign |
Het |
| Xpo6 |
T |
C |
7: 125,773,354 (GRCm39) |
T24A |
possibly damaging |
Het |
| Zfhx2 |
A |
G |
14: 55,310,991 (GRCm39) |
C568R |
possibly damaging |
Het |
| Zfp599 |
T |
A |
9: 22,161,041 (GRCm39) |
K375* |
probably null |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-06-12 |
Incidental Mutation