Incidental Mutation 'IGL01821:Irgm1'
ID |
154551 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Irgm1
|
Ensembl Gene |
ENSMUSG00000046879 |
Gene Name |
immunity-related GTPase family M member 1 |
Synonyms |
Iigp3, Irgm, Ifi1, LRG-47 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01821
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
48756072-48762247 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 48757353 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 153
(S153P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000094870
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049519]
[ENSMUST00000097271]
|
AlphaFold |
Q60766 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000049519
AA Change: S169P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000050446 Gene: ENSMUSG00000046879 AA Change: S169P
Domain | Start | End | E-Value | Type |
Pfam:IIGP
|
42 |
399 |
5.5e-169 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000097271
AA Change: S153P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000094870 Gene: ENSMUSG00000046879 AA Change: S153P
Domain | Start | End | E-Value | Type |
Pfam:IIGP
|
26 |
288 |
2.5e-131 |
PFAM |
Pfam:MMR_HSR1
|
62 |
175 |
2.8e-6 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147151
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: In the absence of infection, mice show no overt phenotype. Resistance to protozoan parasitic infection and bacterial infection is impaired in homozygous mutant mice, whereas resistance to viral infection is normal. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahi1 |
T |
C |
10: 20,917,142 (GRCm39) |
|
probably null |
Het |
Ahnak |
A |
G |
19: 8,989,482 (GRCm39) |
I3589V |
probably benign |
Het |
Arhgdia |
A |
T |
11: 120,471,031 (GRCm39) |
L56Q |
probably damaging |
Het |
Camk2b |
C |
T |
11: 5,947,890 (GRCm39) |
D112N |
possibly damaging |
Het |
Eml6 |
A |
G |
11: 29,771,699 (GRCm39) |
V664A |
probably benign |
Het |
Gstm2 |
T |
C |
3: 107,892,369 (GRCm39) |
D119G |
possibly damaging |
Het |
Hic2 |
T |
C |
16: 17,075,695 (GRCm39) |
F175L |
probably benign |
Het |
Ifi214 |
T |
C |
1: 173,356,891 (GRCm39) |
I71V |
probably damaging |
Het |
Igkv17-121 |
G |
A |
6: 68,013,848 (GRCm39) |
C16Y |
unknown |
Het |
Inpp4a |
T |
C |
1: 37,416,798 (GRCm39) |
S435P |
probably damaging |
Het |
Lactb |
A |
T |
9: 66,878,180 (GRCm39) |
S216R |
probably damaging |
Het |
Nol7 |
A |
G |
13: 43,552,216 (GRCm39) |
K87R |
probably benign |
Het |
Or9m2 |
T |
A |
2: 87,820,933 (GRCm39) |
H159Q |
probably benign |
Het |
Patj |
G |
T |
4: 98,344,448 (GRCm39) |
G18W |
probably damaging |
Het |
Pjvk |
G |
T |
2: 76,486,259 (GRCm39) |
G220C |
probably damaging |
Het |
Prtg |
T |
C |
9: 72,819,219 (GRCm39) |
Y1071H |
probably damaging |
Het |
Psmb8 |
C |
A |
17: 34,417,517 (GRCm39) |
Q49K |
probably benign |
Het |
Rhcg |
C |
A |
7: 79,248,346 (GRCm39) |
L419F |
probably benign |
Het |
Slc6a5 |
A |
G |
7: 49,564,601 (GRCm39) |
|
probably benign |
Het |
Slc9a9 |
A |
G |
9: 95,111,003 (GRCm39) |
D607G |
probably benign |
Het |
Tenm2 |
G |
A |
11: 35,914,710 (GRCm39) |
L2275F |
probably damaging |
Het |
Thoc1 |
A |
G |
18: 9,993,429 (GRCm39) |
D596G |
probably benign |
Het |
Tie1 |
A |
G |
4: 118,341,835 (GRCm39) |
F205L |
probably damaging |
Het |
Traf7 |
G |
A |
17: 24,729,473 (GRCm39) |
S446F |
probably damaging |
Het |
Trnt1 |
G |
A |
6: 106,751,436 (GRCm39) |
V138I |
probably damaging |
Het |
Tsnaxip1 |
A |
T |
8: 106,564,148 (GRCm39) |
Q116L |
probably damaging |
Het |
Wdr47 |
T |
C |
3: 108,534,520 (GRCm39) |
S480P |
probably damaging |
Het |
|
Other mutations in Irgm1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00418:Irgm1
|
APN |
11 |
48,756,832 (GRCm39) |
nonsense |
probably null |
|
IGL02043:Irgm1
|
APN |
11 |
48,757,642 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02252:Irgm1
|
APN |
11 |
48,756,981 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL03153:Irgm1
|
APN |
11 |
48,757,094 (GRCm39) |
missense |
probably damaging |
1.00 |
igraine
|
UTSW |
11 |
48,757,440 (GRCm39) |
missense |
probably benign |
0.33 |
R0487:Irgm1
|
UTSW |
11 |
48,757,154 (GRCm39) |
missense |
probably damaging |
0.98 |
R1808:Irgm1
|
UTSW |
11 |
48,757,259 (GRCm39) |
missense |
probably damaging |
0.99 |
R1809:Irgm1
|
UTSW |
11 |
48,757,440 (GRCm39) |
missense |
probably benign |
0.33 |
R1878:Irgm1
|
UTSW |
11 |
48,756,897 (GRCm39) |
missense |
probably benign |
0.07 |
R2971:Irgm1
|
UTSW |
11 |
48,757,417 (GRCm39) |
nonsense |
probably null |
|
R4492:Irgm1
|
UTSW |
11 |
48,756,955 (GRCm39) |
synonymous |
silent |
|
R4962:Irgm1
|
UTSW |
11 |
48,757,159 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5186:Irgm1
|
UTSW |
11 |
48,757,044 (GRCm39) |
missense |
probably benign |
0.00 |
R5794:Irgm1
|
UTSW |
11 |
48,757,064 (GRCm39) |
missense |
probably damaging |
0.99 |
R6224:Irgm1
|
UTSW |
11 |
48,757,713 (GRCm39) |
missense |
probably benign |
0.02 |
R6487:Irgm1
|
UTSW |
11 |
48,756,777 (GRCm39) |
missense |
probably benign |
0.21 |
R6752:Irgm1
|
UTSW |
11 |
48,757,290 (GRCm39) |
missense |
probably damaging |
1.00 |
R6766:Irgm1
|
UTSW |
11 |
48,756,928 (GRCm39) |
missense |
possibly damaging |
0.80 |
R8005:Irgm1
|
UTSW |
11 |
48,757,217 (GRCm39) |
missense |
probably damaging |
1.00 |
R8418:Irgm1
|
UTSW |
11 |
48,757,166 (GRCm39) |
missense |
probably damaging |
0.97 |
R8924:Irgm1
|
UTSW |
11 |
48,756,698 (GRCm39) |
missense |
probably benign |
0.35 |
R8947:Irgm1
|
UTSW |
11 |
48,759,575 (GRCm39) |
intron |
probably benign |
|
|
Posted On |
2014-02-04 |