Incidental Mutation 'R4362:Icam1'
| ID |
377730 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Icam1
|
| Ensembl Gene |
ENSMUSG00000037405 |
| Gene Name |
intercellular adhesion molecule 1 |
| Synonyms |
Icam-1, MALA-2, Ly-47, CD54 |
| MMRRC Submission |
041671-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.110)
|
| Stock # |
R4362 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
20927281-20940113 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 20937608 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 215
(D215G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083587
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001040]
[ENSMUST00000086399]
[ENSMUST00000215077]
|
| AlphaFold |
P13597 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001040
|
| SMART Domains |
Protein: ENSMUSP00000001040
Gene: ENSMUSG00000001014
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:ICAM_N
|
37 |
128 |
2.5e-17 |
PFAM |
|
Blast:IG_like
|
133 |
224 |
1e-9 |
BLAST |
|
transmembrane domain
|
232 |
254 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000086399
AA Change: D215G
PolyPhen 2
Score 0.623 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000083587
Gene: ENSMUSG00000037405
AA Change: D215G
| 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 |
probably benign
Transcript: ENSMUST00000215077
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216917
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (39/39) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2200002D01Rik |
C |
T |
7: 28,947,687 (GRCm39) |
|
probably benign |
Het |
| Abcc6 |
A |
G |
7: 45,648,256 (GRCm39) |
|
probably benign |
Het |
| Adamts13 |
G |
A |
2: 26,894,794 (GRCm39) |
C1034Y |
probably damaging |
Het |
| Atp2b4 |
G |
T |
1: 133,667,669 (GRCm39) |
P125Q |
possibly damaging |
Het |
| Atp8b1 |
C |
T |
18: 64,697,608 (GRCm39) |
R412H |
probably damaging |
Het |
| Bicc1 |
ATGTG |
ATG |
10: 70,779,204 (GRCm39) |
|
probably null |
Het |
| Cap1 |
G |
A |
4: 122,756,780 (GRCm39) |
P302S |
probably benign |
Het |
| Chodl |
G |
T |
16: 78,741,546 (GRCm39) |
|
probably null |
Het |
| Cplane1 |
T |
A |
15: 8,300,229 (GRCm39) |
S3179T |
unknown |
Het |
| Cplx2 |
A |
T |
13: 54,526,630 (GRCm39) |
T13S |
probably benign |
Het |
| Dennd5a |
G |
A |
7: 109,495,550 (GRCm39) |
R1194W |
probably damaging |
Het |
| Dsc2 |
T |
A |
18: 20,183,214 (GRCm39) |
D68V |
probably damaging |
Het |
| Dus4l |
A |
C |
12: 31,698,827 (GRCm39) |
I59R |
probably damaging |
Het |
| Edc3 |
C |
T |
9: 57,620,829 (GRCm39) |
P50L |
probably damaging |
Het |
| Ext1 |
G |
A |
15: 52,970,987 (GRCm39) |
|
probably benign |
Het |
| Fam219a |
C |
T |
4: 41,518,844 (GRCm39) |
|
probably benign |
Het |
| Fbxl3 |
A |
T |
14: 103,329,749 (GRCm39) |
D106E |
probably damaging |
Het |
| Garem1 |
T |
C |
18: 21,369,172 (GRCm39) |
N50D |
possibly damaging |
Het |
| Gins1 |
G |
A |
2: 150,751,682 (GRCm39) |
R15H |
probably damaging |
Het |
| Glrx2 |
A |
G |
1: 143,617,418 (GRCm39) |
K44R |
possibly damaging |
Het |
| Nedd9 |
A |
T |
13: 41,471,429 (GRCm39) |
I184N |
probably damaging |
Het |
| Or10a2 |
T |
C |
7: 106,673,799 (GRCm39) |
S255P |
probably damaging |
Het |
| Or1e21 |
T |
C |
11: 73,344,391 (GRCm39) |
M216V |
probably benign |
Het |
| Otulinl |
C |
T |
15: 27,664,429 (GRCm39) |
|
probably null |
Het |
| Rhot2 |
A |
G |
17: 26,061,065 (GRCm39) |
C147R |
probably damaging |
Het |
| Saxo4 |
T |
C |
19: 10,452,385 (GRCm39) |
Y375C |
probably damaging |
Het |
| Setd4 |
T |
C |
16: 93,380,574 (GRCm39) |
|
probably null |
Het |
| Slc6a4 |
A |
G |
11: 76,907,904 (GRCm39) |
N356S |
probably damaging |
Het |
| Tas2r136 |
C |
A |
6: 132,754,972 (GRCm39) |
V52L |
probably damaging |
Het |
| Tmem168 |
A |
C |
6: 13,595,072 (GRCm39) |
I381S |
probably benign |
Het |
| Tnfrsf11b |
T |
A |
15: 54,119,555 (GRCm39) |
T140S |
possibly damaging |
Het |
| Ttpa |
G |
T |
4: 20,023,827 (GRCm39) |
E130* |
probably null |
Het |
| Ubr5 |
A |
G |
15: 38,078,647 (GRCm39) |
V8A |
probably damaging |
Het |
| Vmn2r18 |
C |
T |
5: 151,496,368 (GRCm39) |
C450Y |
probably damaging |
Het |
| Vmn2r32 |
A |
T |
7: 7,482,857 (GRCm39) |
L39* |
probably null |
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 |
|
|
IGL01652:Icam1
|
APN |
9 |
20,930,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTTGGGAGGAAGAAGACCC -3'
(R):5'- CAGAGTCACTGCTGTTTGTGC -3'
Sequencing Primer
(F):5'- TCCAAGCTTGATGACCTGAG -3'
(R):5'- CTCTCCTGGGTCGGCATCTG -3'
|
| Posted On |
2016-03-25 |
Incidental Mutation