Incidental Mutation 'R8951:Irgm2'
| ID |
681658 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Irgm2
|
| Ensembl Gene |
ENSMUSG00000069874 |
| Gene Name |
immunity-related GTPase family M member 2 |
| Synonyms |
Iigp2, Gtpi |
| MMRRC Submission |
068788-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8951 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
58105803-58113609 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 58110408 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 45
(V45A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146805
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058704]
[ENSMUST00000108836]
[ENSMUST00000209079]
|
| AlphaFold |
A0A140LIF8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000058704
AA Change: V33A
PolyPhen 2
Score 0.627 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000056001
Gene: ENSMUSG00000069874
AA Change: V33A
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000104464
Gene: ENSMUSG00000069874
AA Change: V33A
| 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 |
possibly damaging
Transcript: ENSMUST00000209079
AA Change: V45A
PolyPhen 2
Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
99% (73/74) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam11 |
T |
C |
11: 102,665,193 (GRCm39) |
|
probably null |
Het |
| Adcy6 |
A |
T |
15: 98,502,140 (GRCm39) |
V158E |
possibly damaging |
Het |
| Adgrg3 |
T |
C |
8: 95,761,362 (GRCm39) |
|
probably benign |
Het |
| Arsb |
T |
C |
13: 93,944,124 (GRCm39) |
S272P |
probably damaging |
Het |
| Asb10 |
A |
C |
5: 24,742,952 (GRCm39) |
C260W |
probably damaging |
Het |
| Atp13a1 |
A |
G |
8: 70,246,484 (GRCm39) |
D158G |
probably benign |
Het |
| Bcl6 |
T |
C |
16: 23,793,704 (GRCm39) |
E81G |
probably damaging |
Het |
| C7 |
A |
T |
15: 5,032,231 (GRCm39) |
V660E |
probably benign |
Het |
| Cacna1c |
T |
C |
6: 118,590,300 (GRCm39) |
D1401G |
probably damaging |
Het |
| Ccp110 |
A |
G |
7: 118,321,015 (GRCm39) |
I223M |
possibly damaging |
Het |
| Cilp |
A |
G |
9: 65,180,220 (GRCm39) |
E187G |
probably benign |
Het |
| Cmc2 |
T |
C |
8: 117,637,904 (GRCm39) |
N15S |
probably damaging |
Het |
| Cnnm3 |
T |
A |
1: 36,558,019 (GRCm39) |
|
probably benign |
Het |
| Col27a1 |
T |
G |
4: 63,191,311 (GRCm39) |
M828R |
possibly damaging |
Het |
| Cpm |
C |
T |
10: 117,511,938 (GRCm39) |
P294L |
probably damaging |
Het |
| Cpt1a |
G |
C |
19: 3,412,211 (GRCm39) |
A228P |
probably benign |
Het |
| Ctbp1 |
A |
G |
5: 33,416,679 (GRCm39) |
V43A |
probably damaging |
Het |
| Cylc2 |
A |
T |
4: 51,229,469 (GRCm39) |
E270D |
unknown |
Het |
| Cyp46a1 |
A |
C |
12: 108,312,348 (GRCm39) |
R119S |
possibly damaging |
Het |
| Dctn3 |
A |
T |
4: 41,719,845 (GRCm39) |
I87N |
probably damaging |
Het |
| Dhdds |
C |
T |
4: 133,719,857 (GRCm39) |
V25I |
possibly damaging |
Het |
| Entpd1 |
A |
C |
19: 40,727,319 (GRCm39) |
N489T |
probably damaging |
Het |
| Fam110a |
T |
C |
2: 151,812,461 (GRCm39) |
D103G |
probably damaging |
Het |
| Foxo6 |
T |
A |
4: 120,125,133 (GRCm39) |
Q554L |
unknown |
Het |
| Gbp5 |
T |
A |
3: 142,206,481 (GRCm39) |
M55K |
probably damaging |
Het |
| Gm20730 |
T |
C |
6: 43,058,638 (GRCm39) |
Y58C |
possibly damaging |
Het |
| Grip1 |
T |
A |
10: 119,874,509 (GRCm39) |
S679T |
possibly damaging |
Het |
| Gtdc1 |
A |
C |
2: 44,679,030 (GRCm39) |
|
probably benign |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Igha |
T |
A |
12: 113,222,684 (GRCm39) |
N246Y |
|
Het |
| Ighg2b |
T |
A |
12: 113,270,926 (GRCm39) |
T104S |
probably benign |
Het |
| Ighmbp2 |
C |
T |
19: 3,318,726 (GRCm39) |
W450* |
probably null |
Het |
| Ipo11 |
T |
C |
13: 106,978,690 (GRCm39) |
E839G |
possibly damaging |
Het |
| Iqce |
T |
C |
5: 140,675,578 (GRCm39) |
D207G |
probably damaging |
Het |
| Itga1 |
C |
T |
13: 115,107,027 (GRCm39) |
W1021* |
probably null |
Het |
| Itga3 |
T |
C |
11: 94,944,911 (GRCm39) |
Y799C |
probably damaging |
Het |
| Klf1 |
T |
C |
8: 85,629,912 (GRCm39) |
S246P |
possibly damaging |
Het |
| Kras |
A |
T |
6: 145,166,338 (GRCm39) |
M188K |
probably benign |
Het |
| Lacc1 |
C |
T |
14: 77,272,613 (GRCm39) |
C61Y |
probably benign |
Het |
| Lect2 |
T |
A |
13: 56,690,822 (GRCm39) |
|
probably benign |
Het |
| Leng9 |
G |
A |
7: 4,152,782 (GRCm39) |
|
probably benign |
Het |
| Lhx9 |
A |
G |
1: 138,769,704 (GRCm39) |
C6R |
probably damaging |
Het |
| Matn3 |
T |
A |
12: 9,002,172 (GRCm39) |
I128K |
probably damaging |
Het |
| Ndst1 |
T |
C |
18: 60,830,196 (GRCm39) |
E638G |
probably benign |
Het |
| Nell2 |
A |
T |
15: 95,139,424 (GRCm39) |
C603S |
probably damaging |
Het |
| Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
| Oas1h |
T |
G |
5: 121,000,657 (GRCm39) |
F89C |
probably damaging |
Het |
| Or4d10c |
A |
T |
19: 12,066,056 (GRCm39) |
Y33* |
probably null |
Het |
| Or52l1 |
A |
G |
7: 104,829,638 (GRCm39) |
V294A |
probably damaging |
Het |
| Or5b101 |
T |
A |
19: 13,004,827 (GRCm39) |
S289C |
|
Het |
| Or5d45 |
C |
T |
2: 88,153,975 (GRCm39) |
G25S |
probably damaging |
Het |
| P2ry2 |
G |
A |
7: 100,647,228 (GRCm39) |
T359I |
probably damaging |
Het |
| Pbxip1 |
T |
A |
3: 89,352,864 (GRCm39) |
V170E |
probably benign |
Het |
| Pcdhb20 |
T |
A |
18: 37,639,146 (GRCm39) |
N557K |
probably damaging |
Het |
| Pdilt |
A |
G |
7: 119,099,611 (GRCm39) |
V219A |
possibly damaging |
Het |
| Plec |
G |
T |
15: 76,067,310 (GRCm39) |
S1149* |
probably null |
Het |
| Pnkp |
C |
T |
7: 44,507,617 (GRCm39) |
T61I |
possibly damaging |
Het |
| Polr1f |
G |
T |
12: 33,487,867 (GRCm39) |
E261* |
probably null |
Het |
| Prss56 |
T |
A |
1: 87,115,749 (GRCm39) |
V541D |
probably damaging |
Het |
| Rab40c |
A |
G |
17: 26,138,407 (GRCm39) |
V25A |
probably damaging |
Het |
| Rgs8 |
A |
T |
1: 153,546,567 (GRCm39) |
H22L |
probably damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Slc1a2 |
T |
C |
2: 102,586,353 (GRCm39) |
V319A |
probably damaging |
Het |
| Sp140l2 |
G |
A |
1: 85,224,671 (GRCm39) |
S288L |
possibly damaging |
Het |
| Spata18 |
A |
T |
5: 73,828,572 (GRCm39) |
I378F |
probably damaging |
Het |
| Speer1i |
T |
A |
5: 11,092,799 (GRCm39) |
Y79* |
probably null |
Het |
| Stag1 |
T |
C |
9: 100,762,854 (GRCm39) |
V485A |
probably damaging |
Het |
| Tas2r104 |
T |
A |
6: 131,662,569 (GRCm39) |
I47F |
probably damaging |
Het |
| Thumpd1 |
A |
T |
7: 119,317,471 (GRCm39) |
H143Q |
possibly damaging |
Het |
| Tmem231 |
T |
C |
8: 112,640,697 (GRCm39) |
Q272R |
probably damaging |
Het |
| Tnfaip2 |
A |
G |
12: 111,412,310 (GRCm39) |
D237G |
probably benign |
Het |
| Tox3 |
T |
C |
8: 91,074,543 (GRCm39) |
D12G |
probably benign |
Het |
| Vmn1r1 |
A |
G |
1: 181,985,309 (GRCm39) |
S119P |
probably damaging |
Het |
| Xrn1 |
A |
G |
9: 95,870,999 (GRCm39) |
E608G |
probably benign |
Het |
| Zfp395 |
T |
C |
14: 65,629,528 (GRCm39) |
C281R |
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 |
|
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 |
|
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'- GGGTATGGATCTGAAAGCCTG -3'
(R):5'- GGGAGCTGAATCTTTCTCTTCG -3'
Sequencing Primer
(F):5'- CTGGACAAGGAACAGTGTTTCCTG -3'
(R):5'- CTTCGTGTCCGATGAGCCTAAG -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation