Incidental Mutation 'R5794:Irgm1'
| ID |
447129 |
| 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 |
043385-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5794 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
48756072-48762247 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 48757064 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 249
(Y249C)
|
| 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: Y265C
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000050446
Gene: ENSMUSG00000046879
AA Change: Y265C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IIGP
|
42 |
399 |
5.5e-169 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000097271
AA Change: Y249C
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000094870
Gene: ENSMUSG00000046879
AA Change: Y249C
| 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 |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aftph |
T |
C |
11: 20,676,955 (GRCm39) |
|
probably null |
Het |
| Ank2 |
T |
C |
3: 126,723,669 (GRCm39) |
N923S |
probably benign |
Het |
| Ano6 |
A |
T |
15: 95,792,405 (GRCm39) |
T76S |
probably benign |
Het |
| Carmil1 |
G |
T |
13: 24,276,533 (GRCm39) |
N204K |
probably damaging |
Het |
| Cep126 |
T |
G |
9: 8,103,440 (GRCm39) |
N190T |
possibly damaging |
Het |
| Clasrp |
A |
T |
7: 19,325,034 (GRCm39) |
D198E |
probably damaging |
Het |
| Cma1 |
T |
C |
14: 56,181,977 (GRCm39) |
T18A |
probably benign |
Het |
| Ece1 |
A |
G |
4: 137,683,844 (GRCm39) |
I565M |
probably damaging |
Het |
| Etl4 |
T |
A |
2: 20,811,323 (GRCm39) |
F1135L |
probably damaging |
Het |
| Fbxw20 |
T |
C |
9: 109,052,358 (GRCm39) |
N325S |
probably damaging |
Het |
| Fbxw20 |
A |
T |
9: 109,062,668 (GRCm39) |
C53S |
possibly damaging |
Het |
| Gnb2 |
T |
C |
5: 137,526,961 (GRCm39) |
D203G |
probably benign |
Het |
| Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
| Hoxd9 |
T |
A |
2: 74,529,617 (GRCm39) |
F291Y |
probably damaging |
Het |
| Igf2r |
T |
C |
17: 12,928,332 (GRCm39) |
S1004G |
probably benign |
Het |
| Kcnh3 |
A |
C |
15: 99,130,855 (GRCm39) |
I491L |
probably benign |
Het |
| Kctd10 |
G |
A |
5: 114,505,398 (GRCm39) |
R199W |
probably damaging |
Het |
| Klk1b4 |
A |
T |
7: 43,859,069 (GRCm39) |
N29I |
probably damaging |
Het |
| Klrc1 |
C |
T |
6: 129,652,317 (GRCm39) |
R188Q |
probably damaging |
Het |
| Krt32 |
C |
A |
11: 99,975,812 (GRCm39) |
C275F |
probably damaging |
Het |
| Krt73 |
T |
A |
15: 101,703,264 (GRCm39) |
T449S |
probably benign |
Het |
| Napepld |
T |
A |
5: 21,888,429 (GRCm39) |
S7C |
possibly damaging |
Het |
| Nfia |
G |
T |
4: 97,671,838 (GRCm39) |
V183L |
possibly damaging |
Het |
| Or5g27 |
T |
C |
2: 85,409,685 (GRCm39) |
V34A |
probably benign |
Het |
| Or6c3 |
A |
C |
10: 129,309,295 (GRCm39) |
I245L |
possibly damaging |
Het |
| Psma3 |
A |
G |
12: 71,037,271 (GRCm39) |
T111A |
probably benign |
Het |
| Psmd11 |
T |
A |
11: 80,362,318 (GRCm39) |
D125E |
probably benign |
Het |
| Rabgap1 |
T |
A |
2: 37,392,914 (GRCm39) |
D523E |
probably benign |
Het |
| Rttn |
G |
T |
18: 89,013,693 (GRCm39) |
R454L |
probably benign |
Het |
| Serpine2 |
T |
C |
1: 79,799,156 (GRCm39) |
N33D |
probably benign |
Het |
| Six4 |
A |
T |
12: 73,159,124 (GRCm39) |
S271T |
possibly damaging |
Het |
| Smoc2 |
T |
A |
17: 14,589,310 (GRCm39) |
C260S |
possibly damaging |
Het |
| Snai2 |
A |
T |
16: 14,524,590 (GRCm39) |
Y32F |
probably benign |
Het |
| Tapt1 |
C |
T |
5: 44,334,476 (GRCm39) |
G505D |
probably benign |
Het |
| Thap12 |
T |
A |
7: 98,365,600 (GRCm39) |
D589E |
probably benign |
Het |
| Ttc23l |
G |
T |
15: 10,551,636 (GRCm39) |
T30K |
possibly damaging |
Het |
| Vmn2r116 |
T |
C |
17: 23,604,942 (GRCm39) |
I85T |
probably damaging |
Het |
| Zfp592 |
G |
T |
7: 80,674,781 (GRCm39) |
V582L |
probably benign |
Het |
| Zfp827 |
T |
C |
8: 79,797,071 (GRCm39) |
W386R |
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 |
|
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 |
|
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'- GACTACTGTCCCCATACTCTGG -3'
(R):5'- CTCAGCACCAGTGTCCTATCAG -3'
Sequencing Primer
(F):5'- GGGCTACCTGCTGAACTGATTC -3'
(R):5'- ACCAGTGTCCTATCAGAGGTC -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation