Incidental Mutation 'IGL01652:Icam1'
ID |
102858 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Icam1
|
Ensembl Gene |
ENSMUSG00000037405 |
Gene Name |
intercellular adhesion molecule 1 |
Synonyms |
Icam-1, MALA-2, Ly-47, CD54 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.130)
|
Stock # |
IGL01652
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
20927281-20940113 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 20930472 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 109
(Y109H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000083587
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086399]
|
AlphaFold |
P13597 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000086399
AA Change: Y109H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000083587 Gene: ENSMUSG00000037405 AA Change: Y109H
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
20 |
N/A |
INTRINSIC |
IG_like
|
33 |
109 |
5.91e1 |
SMART |
IG_like
|
119 |
208 |
1.15e2 |
SMART |
IG
|
319 |
396 |
1.49e-2 |
SMART |
IG
|
407 |
479 |
3.91e-6 |
SMART |
transmembrane domain
|
486 |
508 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215003
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes an integral membrane protein that binds leukocyte adhesion protein LFA-1. It participates in the innate immune response. [provided by RefSeq, Aug 2016] PHENOTYPE: Homozygous mutation of this gene results in impaired inflammatory and immune responses. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alk |
A |
T |
17: 72,910,526 (GRCm39) |
V60E |
probably damaging |
Het |
Ank2 |
T |
C |
3: 126,726,690 (GRCm39) |
K868R |
probably benign |
Het |
Ankrd13a |
A |
T |
5: 114,929,397 (GRCm39) |
D158V |
probably damaging |
Het |
Arhgap12 |
G |
T |
18: 6,061,853 (GRCm39) |
N380K |
possibly damaging |
Het |
Cpn1 |
A |
T |
19: 43,974,533 (GRCm39) |
F65L |
possibly damaging |
Het |
Dlec1 |
T |
A |
9: 118,972,975 (GRCm39) |
H1496Q |
probably benign |
Het |
Dock1 |
C |
T |
7: 134,379,226 (GRCm39) |
|
probably benign |
Het |
Dok1 |
T |
C |
6: 83,009,543 (GRCm39) |
N143D |
probably damaging |
Het |
Fcmr |
C |
T |
1: 130,806,244 (GRCm39) |
P363L |
probably benign |
Het |
Galk2 |
A |
G |
2: 125,738,685 (GRCm39) |
T171A |
probably benign |
Het |
Hrh3 |
G |
T |
2: 179,742,896 (GRCm39) |
P244Q |
possibly damaging |
Het |
Nup93 |
T |
C |
8: 95,023,187 (GRCm39) |
V132A |
possibly damaging |
Het |
Or4c113 |
A |
T |
2: 88,884,913 (GRCm39) |
Y286N |
probably damaging |
Het |
Pla2g4f |
T |
C |
2: 120,132,716 (GRCm39) |
I707V |
possibly damaging |
Het |
Rpgrip1 |
G |
A |
14: 52,382,949 (GRCm39) |
|
probably benign |
Het |
Sbf2 |
A |
T |
7: 110,046,327 (GRCm39) |
V290E |
probably damaging |
Het |
Stard3 |
T |
G |
11: 98,269,559 (GRCm39) |
|
probably benign |
Het |
Sufu |
T |
C |
19: 46,464,059 (GRCm39) |
Y424H |
probably damaging |
Het |
Trim35 |
T |
G |
14: 66,546,250 (GRCm39) |
V339G |
probably damaging |
Het |
Vmn1r80 |
A |
G |
7: 11,927,063 (GRCm39) |
I58V |
probably benign |
Het |
|
Other mutations in Icam1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01066:Icam1
|
APN |
9 |
20,927,401 (GRCm39) |
splice site |
probably null |
|
R0458:Icam1
|
UTSW |
9 |
20,939,157 (GRCm39) |
splice site |
probably null |
|
R0709:Icam1
|
UTSW |
9 |
20,930,423 (GRCm39) |
missense |
probably damaging |
0.98 |
R1102:Icam1
|
UTSW |
9 |
20,939,132 (GRCm39) |
missense |
possibly damaging |
0.83 |
R1473:Icam1
|
UTSW |
9 |
20,939,172 (GRCm39) |
missense |
probably damaging |
1.00 |
R2210:Icam1
|
UTSW |
9 |
20,930,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R4362:Icam1
|
UTSW |
9 |
20,937,608 (GRCm39) |
missense |
possibly damaging |
0.62 |
R5350:Icam1
|
UTSW |
9 |
20,939,182 (GRCm39) |
nonsense |
probably null |
|
R6835:Icam1
|
UTSW |
9 |
20,938,421 (GRCm39) |
missense |
possibly damaging |
0.71 |
R7296:Icam1
|
UTSW |
9 |
20,930,311 (GRCm39) |
missense |
probably benign |
0.00 |
R7381:Icam1
|
UTSW |
9 |
20,938,886 (GRCm39) |
missense |
probably benign |
|
R8815:Icam1
|
UTSW |
9 |
20,937,862 (GRCm39) |
missense |
probably benign |
0.44 |
R9648:Icam1
|
UTSW |
9 |
20,937,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2014-01-21 |