Incidental Mutation 'R5379:Itgam'
| ID |
425750 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itgam
|
| Ensembl Gene |
ENSMUSG00000030786 |
| Gene Name |
integrin alpha M |
| Synonyms |
Mac-1, complement receptor type 3, Ly-40, Mac-1 alpha, CD11B (p170), Cd11b, Mac-1a, CD11b/CD18, complement component receptor 3 alpha, F730045J24Rik, CR3 |
| MMRRC Submission |
042954-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.114)
|
| Stock # |
R5379 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
127661812-127717663 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 127711560 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 725
(D725G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113957
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064821]
[ENSMUST00000098015]
[ENSMUST00000106240]
[ENSMUST00000106242]
[ENSMUST00000120355]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064821
AA Change: D725G
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000068468
Gene: ENSMUSG00000030786
AA Change: D725G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
Int_alpha
|
30 |
80 |
8.11e0 |
SMART |
|
VWA
|
148 |
333 |
2.63e-49 |
SMART |
|
Int_alpha
|
400 |
449 |
1.07e1 |
SMART |
|
Int_alpha
|
453 |
510 |
1.48e-7 |
SMART |
|
Int_alpha
|
516 |
572 |
4.9e-13 |
SMART |
|
Int_alpha
|
579 |
633 |
3.67e-3 |
SMART |
|
low complexity region
|
849 |
855 |
N/A |
INTRINSIC |
|
Pfam:Integrin_alpha
|
1130 |
1144 |
2.1e-7 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098015
AA Change: D724G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000095625
Gene: ENSMUSG00000108596
AA Change: D724G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
Int_alpha
|
30 |
80 |
8.11e0 |
SMART |
|
VWA
|
148 |
333 |
2.63e-49 |
SMART |
|
Int_alpha
|
400 |
449 |
1.07e1 |
SMART |
|
Int_alpha
|
453 |
510 |
1.48e-7 |
SMART |
|
Int_alpha
|
516 |
572 |
4.9e-13 |
SMART |
|
Int_alpha
|
579 |
633 |
3.67e-3 |
SMART |
|
low complexity region
|
849 |
855 |
N/A |
INTRINSIC |
|
coiled coil region
|
1143 |
1170 |
N/A |
INTRINSIC |
|
low complexity region
|
1178 |
1200 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106240
AA Change: D607G
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000101847
Gene: ENSMUSG00000030786
AA Change: D607G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
Int_alpha
|
30 |
80 |
8.11e0 |
SMART |
|
VWA
|
148 |
333 |
2.63e-49 |
SMART |
|
Int_alpha
|
400 |
449 |
1.07e1 |
SMART |
|
Int_alpha
|
462 |
516 |
3.67e-3 |
SMART |
|
low complexity region
|
732 |
738 |
N/A |
INTRINSIC |
|
Pfam:Integrin_alpha
|
1013 |
1027 |
3.9e-9 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106242
AA Change: D724G
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000101849
Gene: ENSMUSG00000030786
AA Change: D724G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
Int_alpha
|
30 |
80 |
8.11e0 |
SMART |
|
VWA
|
148 |
333 |
2.63e-49 |
SMART |
|
Int_alpha
|
400 |
449 |
1.07e1 |
SMART |
|
Int_alpha
|
453 |
511 |
5.91e-7 |
SMART |
|
Int_alpha
|
517 |
573 |
4.9e-13 |
SMART |
|
Int_alpha
|
580 |
634 |
3.67e-3 |
SMART |
|
low complexity region
|
850 |
856 |
N/A |
INTRINSIC |
|
Pfam:Integrin_alpha
|
1131 |
1145 |
8.4e-8 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120355
AA Change: D725G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113957
Gene: ENSMUSG00000030786
AA Change: D725G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
Int_alpha
|
30 |
80 |
8.11e0 |
SMART |
|
VWA
|
148 |
333 |
2.63e-49 |
SMART |
|
Int_alpha
|
400 |
449 |
1.07e1 |
SMART |
|
Int_alpha
|
453 |
511 |
5.91e-7 |
SMART |
|
Int_alpha
|
517 |
573 |
4.9e-13 |
SMART |
|
Int_alpha
|
580 |
634 |
3.67e-3 |
SMART |
|
low complexity region
|
850 |
856 |
N/A |
INTRINSIC |
|
low complexity region
|
1141 |
1150 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126475
AA Change: D635G
PolyPhen 2
Score 0.217 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134694
|
| SMART Domains |
Protein: ENSMUSP00000117120
Gene: ENSMUSG00000108596
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_L29
|
39 |
82 |
1.1e-9 |
PFAM |
|
| Meta Mutation Damage Score |
0.7975 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
97% (58/60) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the integrin alpha M chain. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This I-domain containing alpha integrin combines with the beta 2 chain (ITGB2) to form a leukocyte-specific integrin referred to as macrophage receptor 1 ('Mac-1'), or inactivated-C3b (iC3b) receptor 3 ('CR3'). The alpha M beta 2 integrin is important in the adherence of neutrophils and monocytes to stimulated endothelium, and also in the phagocytosis of complement coated particles. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
PHENOTYPE: Homozygous null mice exhibit reduced staphylococcal enterotoxin- induced T cell proliferation, reduced neutrophil adhesion to fibrinogen, and defective homotypic aggregation and reduced degranulation of neutrophils. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy1 |
T |
A |
11: 7,096,532 (GRCm39) |
L640Q |
probably damaging |
Het |
| Afap1l1 |
T |
C |
18: 61,891,721 (GRCm39) |
E32G |
probably damaging |
Het |
| Atp1a1 |
T |
A |
3: 101,489,411 (GRCm39) |
M734L |
probably benign |
Het |
| B4galt6 |
T |
C |
18: 20,822,296 (GRCm39) |
D294G |
probably damaging |
Het |
| Baz1a |
T |
G |
12: 54,941,133 (GRCm39) |
D1539A |
probably damaging |
Het |
| Bmper |
T |
A |
9: 23,208,520 (GRCm39) |
S141T |
probably benign |
Het |
| Camkv |
T |
C |
9: 107,822,545 (GRCm39) |
V20A |
probably damaging |
Het |
| Chst8 |
A |
G |
7: 34,375,279 (GRCm39) |
Y187H |
probably damaging |
Het |
| Coro1c |
A |
G |
5: 113,983,443 (GRCm39) |
Y362H |
probably damaging |
Het |
| Csmd3 |
C |
A |
15: 47,499,846 (GRCm39) |
G3008* |
probably null |
Het |
| Dnah17 |
T |
C |
11: 118,008,029 (GRCm39) |
|
probably benign |
Het |
| Dnajb1 |
C |
T |
8: 84,335,135 (GRCm39) |
R59C |
possibly damaging |
Het |
| Dpf1 |
A |
G |
7: 29,003,533 (GRCm39) |
K10E |
probably benign |
Het |
| Eif5 |
T |
C |
12: 111,509,989 (GRCm39) |
L311P |
probably damaging |
Het |
| Eqtn |
A |
G |
4: 94,795,825 (GRCm39) |
F251S |
probably damaging |
Het |
| Fancg |
A |
G |
4: 43,002,998 (GRCm39) |
S620P |
probably benign |
Het |
| Farp1 |
T |
C |
14: 121,494,169 (GRCm39) |
V550A |
possibly damaging |
Het |
| Fat2 |
T |
C |
11: 55,194,767 (GRCm39) |
T1091A |
probably damaging |
Het |
| Fbxo33 |
A |
G |
12: 59,266,246 (GRCm39) |
|
probably benign |
Het |
| Fndc5 |
A |
T |
4: 129,035,887 (GRCm39) |
I175F |
probably damaging |
Het |
| Gtf2ird2 |
G |
C |
5: 134,246,310 (GRCm39) |
R856P |
probably benign |
Het |
| Hc |
A |
T |
2: 34,881,077 (GRCm39) |
F1481I |
probably damaging |
Het |
| Helz2 |
T |
A |
2: 180,876,862 (GRCm39) |
T1211S |
probably benign |
Het |
| Hmcn2 |
G |
A |
2: 31,299,023 (GRCm39) |
V2790M |
probably damaging |
Het |
| Ighv1-82 |
T |
C |
12: 115,916,297 (GRCm39) |
Y71C |
probably damaging |
Het |
| Kif9 |
T |
C |
9: 110,350,371 (GRCm39) |
V754A |
probably benign |
Het |
| Larp4b |
C |
A |
13: 9,186,945 (GRCm39) |
T91K |
probably benign |
Het |
| Mki67 |
T |
C |
7: 135,299,190 (GRCm39) |
E1948G |
possibly damaging |
Het |
| Mllt6 |
G |
A |
11: 97,560,326 (GRCm39) |
S210N |
possibly damaging |
Het |
| Mrgprb13 |
A |
T |
7: 47,961,496 (GRCm39) |
|
noncoding transcript |
Het |
| Nlrc4 |
A |
T |
17: 74,755,078 (GRCm39) |
L46* |
probably null |
Het |
| Or13c7c |
A |
G |
4: 43,836,010 (GRCm39) |
I160T |
probably benign |
Het |
| Or7g21 |
A |
T |
9: 19,032,373 (GRCm39) |
T38S |
probably damaging |
Het |
| Or8d1b |
T |
C |
9: 38,887,151 (GRCm39) |
Y60H |
possibly damaging |
Het |
| Orm1 |
A |
G |
4: 63,264,230 (GRCm39) |
|
probably null |
Het |
| Parva |
A |
T |
7: 112,178,927 (GRCm39) |
H311L |
probably benign |
Het |
| Pramel25 |
A |
G |
4: 143,521,493 (GRCm39) |
I370V |
probably benign |
Het |
| Proca1 |
C |
A |
11: 78,096,092 (GRCm39) |
S154R |
probably damaging |
Het |
| R3hdm2 |
T |
C |
10: 127,307,771 (GRCm39) |
V344A |
probably damaging |
Het |
| Rabep1 |
A |
T |
11: 70,799,247 (GRCm39) |
K293N |
probably damaging |
Het |
| Ranbp6 |
A |
G |
19: 29,789,083 (GRCm39) |
V423A |
probably damaging |
Het |
| Rnf20 |
T |
A |
4: 49,652,639 (GRCm39) |
Y711N |
possibly damaging |
Het |
| Sf3b1 |
A |
T |
1: 55,042,309 (GRCm39) |
M498K |
possibly damaging |
Het |
| Sin3a |
T |
C |
9: 57,018,272 (GRCm39) |
M897T |
probably benign |
Het |
| Sp140 |
T |
A |
1: 85,538,549 (GRCm39) |
D95E |
possibly damaging |
Het |
| Srbd1 |
A |
C |
17: 86,308,964 (GRCm39) |
I738S |
possibly damaging |
Het |
| Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
| Svep1 |
A |
G |
4: 58,072,991 (GRCm39) |
V2106A |
possibly damaging |
Het |
| Tasor2 |
T |
C |
13: 3,638,496 (GRCm39) |
R412G |
probably benign |
Het |
| Tex47 |
G |
A |
5: 7,354,843 (GRCm39) |
R8Q |
probably null |
Het |
| Trpc7 |
A |
G |
13: 56,952,363 (GRCm39) |
Y548H |
probably damaging |
Het |
| Vmn1r170 |
A |
T |
7: 23,306,054 (GRCm39) |
H152L |
possibly damaging |
Het |
| Zfp184 |
A |
G |
13: 22,144,051 (GRCm39) |
I586V |
probably damaging |
Het |
| Zfp454 |
T |
C |
11: 50,774,629 (GRCm39) |
T15A |
probably damaging |
Het |
|
| Other mutations in Itgam |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00324:Itgam
|
APN |
7 |
127,684,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00983:Itgam
|
APN |
7 |
127,667,839 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01102:Itgam
|
APN |
7 |
127,679,445 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01615:Itgam
|
APN |
7 |
127,715,939 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL01845:Itgam
|
APN |
7 |
127,711,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01860:Itgam
|
APN |
7 |
127,670,115 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01874:Itgam
|
APN |
7 |
127,714,338 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01910:Itgam
|
APN |
7 |
127,682,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01994:Itgam
|
APN |
7 |
127,700,899 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02332:Itgam
|
APN |
7 |
127,684,846 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02348:Itgam
|
APN |
7 |
127,715,472 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL02394:Itgam
|
APN |
7 |
127,684,114 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02491:Itgam
|
APN |
7 |
127,715,190 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL02695:Itgam
|
APN |
7 |
127,685,113 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL02821:Itgam
|
APN |
7 |
127,675,281 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02970:Itgam
|
APN |
7 |
127,685,215 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03145:Itgam
|
APN |
7 |
127,712,191 (GRCm39) |
missense |
probably benign |
0.12 |
|
adhesion
|
UTSW |
7 |
127,700,709 (GRCm39) |
missense |
probably damaging |
0.99 |
|
apparition
|
UTSW |
7 |
127,711,458 (GRCm39) |
splice site |
probably null |
|
|
attachment
|
UTSW |
7 |
127,712,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Follower
|
UTSW |
7 |
127,679,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
invisible
|
UTSW |
7 |
127,669,875 (GRCm39) |
splice site |
probably null |
|
|
obscured
|
UTSW |
7 |
127,680,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0184:Itgam
|
UTSW |
7 |
127,685,230 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0389:Itgam
|
UTSW |
7 |
127,680,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0443:Itgam
|
UTSW |
7 |
127,680,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0454:Itgam
|
UTSW |
7 |
127,707,152 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0674:Itgam
|
UTSW |
7 |
127,715,390 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0828:Itgam
|
UTSW |
7 |
127,715,677 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0925:Itgam
|
UTSW |
7 |
127,711,410 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1086:Itgam
|
UTSW |
7 |
127,679,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1655:Itgam
|
UTSW |
7 |
127,714,335 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1809:Itgam
|
UTSW |
7 |
127,670,109 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R1823:Itgam
|
UTSW |
7 |
127,663,904 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2105:Itgam
|
UTSW |
7 |
127,680,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2154:Itgam
|
UTSW |
7 |
127,684,749 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2656:Itgam
|
UTSW |
7 |
127,715,987 (GRCm39) |
missense |
probably null |
1.00 |
|
R2913:Itgam
|
UTSW |
7 |
127,711,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3116:Itgam
|
UTSW |
7 |
127,715,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3404:Itgam
|
UTSW |
7 |
127,669,875 (GRCm39) |
splice site |
probably null |
|
|
R3821:Itgam
|
UTSW |
7 |
127,711,458 (GRCm39) |
splice site |
probably null |
|
|
R3822:Itgam
|
UTSW |
7 |
127,711,458 (GRCm39) |
splice site |
probably null |
|
|
R3960:Itgam
|
UTSW |
7 |
127,714,347 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3968:Itgam
|
UTSW |
7 |
127,712,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4192:Itgam
|
UTSW |
7 |
127,663,904 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4400:Itgam
|
UTSW |
7 |
127,680,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4708:Itgam
|
UTSW |
7 |
127,700,709 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4709:Itgam
|
UTSW |
7 |
127,700,709 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4742:Itgam
|
UTSW |
7 |
127,712,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4790:Itgam
|
UTSW |
7 |
127,715,445 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4960:Itgam
|
UTSW |
7 |
127,715,012 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5109:Itgam
|
UTSW |
7 |
127,712,390 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5190:Itgam
|
UTSW |
7 |
127,715,489 (GRCm39) |
splice site |
probably null |
|
|
R5386:Itgam
|
UTSW |
7 |
127,707,152 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6104:Itgam
|
UTSW |
7 |
127,715,474 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6122:Itgam
|
UTSW |
7 |
127,684,824 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6189:Itgam
|
UTSW |
7 |
127,711,676 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6282:Itgam
|
UTSW |
7 |
127,684,114 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6545:Itgam
|
UTSW |
7 |
127,707,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCGTGCCTTCTTTGATGAGAC -3'
(R):5'- GGCATAAAGTAGCAGTGTTCTAGC -3'
Sequencing Primer
(F):5'- TTTGATGAGACAAAGAACAACACACG -3'
(R):5'- AGTGTTCTAGCAAGTGCACC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation