Incidental Mutation 'R2971:Irgm1'
| ID |
265683 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Irgm1
|
| Ensembl Gene |
ENSMUSG00000046879 |
| Gene Name |
immunity-related GTPase family M member 1 |
| Synonyms |
Iigp3, Irgm, Ifi1, LRG-47 |
| MMRRC Submission |
040525-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2971 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
48756072-48762247 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 48757417 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 131
(Y131*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000094870
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049519]
[ENSMUST00000097271]
|
| AlphaFold |
Q60766 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000049519
AA Change: Y147*
|
| SMART Domains |
Protein: ENSMUSP00000050446
Gene: ENSMUSG00000046879
AA Change: Y147*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IIGP
|
42 |
399 |
5.5e-169 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000097271
AA Change: Y131*
|
| SMART Domains |
Protein: ENSMUSP00000094870
Gene: ENSMUSG00000046879
AA Change: Y131*
| 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
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.6%
|
| Validation Efficiency |
100% (35/35) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
A |
G |
7: 78,749,447 (GRCm39) |
D1406G |
possibly damaging |
Het |
| Aebp2 |
T |
C |
6: 140,579,624 (GRCm39) |
|
probably null |
Het |
| Ap5m1 |
T |
A |
14: 49,321,339 (GRCm39) |
Y49* |
probably null |
Het |
| Atp8b5 |
T |
C |
4: 43,361,953 (GRCm39) |
|
probably benign |
Het |
| Baz1a |
A |
G |
12: 54,970,224 (GRCm39) |
S518P |
probably damaging |
Het |
| Ces1c |
T |
A |
8: 93,830,821 (GRCm39) |
D445V |
probably benign |
Het |
| Ctnnbl1 |
C |
T |
2: 157,713,106 (GRCm39) |
H464Y |
probably benign |
Het |
| Cyp2j6 |
T |
C |
4: 96,420,018 (GRCm39) |
K238E |
probably benign |
Het |
| Gdf10 |
G |
A |
14: 33,646,148 (GRCm39) |
R99H |
probably damaging |
Het |
| Gm4779 |
G |
A |
X: 100,836,568 (GRCm39) |
P116L |
possibly damaging |
Het |
| Gucy2g |
A |
G |
19: 55,198,708 (GRCm39) |
S812P |
probably damaging |
Het |
| Ifit3b |
C |
T |
19: 34,589,417 (GRCm39) |
Q198* |
probably null |
Het |
| Man1c1 |
G |
C |
4: 134,430,749 (GRCm39) |
P11R |
probably damaging |
Het |
| Myh7b |
A |
G |
2: 155,474,175 (GRCm39) |
N1630S |
probably benign |
Het |
| Myo5a |
T |
C |
9: 75,023,484 (GRCm39) |
I15T |
probably damaging |
Het |
| Naip6 |
C |
T |
13: 100,437,108 (GRCm39) |
A472T |
probably benign |
Het |
| Nme6 |
A |
G |
9: 109,671,159 (GRCm39) |
|
probably benign |
Het |
| Or11g25 |
T |
A |
14: 50,723,065 (GRCm39) |
I50N |
probably damaging |
Het |
| Or5al6 |
T |
C |
2: 85,976,908 (GRCm39) |
T57A |
probably damaging |
Het |
| Plch2 |
T |
G |
4: 155,075,224 (GRCm39) |
M797L |
probably benign |
Het |
| Plscr2 |
G |
T |
9: 92,172,724 (GRCm39) |
E128* |
probably null |
Het |
| Plxna2 |
T |
A |
1: 194,480,039 (GRCm39) |
D1403E |
probably damaging |
Het |
| Pou6f2 |
T |
C |
13: 18,556,552 (GRCm39) |
T25A |
unknown |
Het |
| Psmb11 |
T |
C |
14: 54,862,800 (GRCm39) |
V6A |
possibly damaging |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Ptprd |
T |
G |
4: 76,025,561 (GRCm39) |
S546R |
probably benign |
Het |
| Rbp3 |
A |
G |
14: 33,676,411 (GRCm39) |
N120D |
probably benign |
Het |
| Skint1 |
C |
A |
4: 111,878,527 (GRCm39) |
P153H |
possibly damaging |
Het |
| Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
| Tmem201 |
A |
G |
4: 149,806,902 (GRCm39) |
|
probably benign |
Het |
| Ube2v1 |
T |
C |
2: 167,452,256 (GRCm39) |
N89D |
probably damaging |
Het |
| Zfp282 |
A |
T |
6: 47,874,866 (GRCm39) |
|
probably null |
Het |
| Zfp560 |
C |
A |
9: 20,260,240 (GRCm39) |
M207I |
probably benign |
Het |
| Zfp697 |
T |
C |
3: 98,335,617 (GRCm39) |
Y461H |
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 |
|
|
IGL01821:Irgm1
|
APN |
11 |
48,757,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGGATATTCTGTAGGAGCCGGAC -3'
(R):5'- GCATCTTTGTGACTGGGGAC -3'
Sequencing Primer
(F):5'- TGTAGGAGCCGGACCTCTGATAG -3'
(R):5'- GACTCTGGCAATGGCATGTCATC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation