Incidental Mutation 'IGL00540:Icam4'
| ID |
11394 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Icam4
|
| Ensembl Gene |
ENSMUSG00000001014 |
| Gene Name |
intercellular adhesion molecule 4, Landsteiner-Wiener blood group |
| Synonyms |
1810015M19Rik, Cd242 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00540
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
20940728-20941892 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 20941382 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 174
(R174S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151013
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001040]
[ENSMUST00000019616]
[ENSMUST00000086399]
[ENSMUST00000215077]
|
| AlphaFold |
Q9ERM2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000001040
AA Change: R174S
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000001040
Gene: ENSMUSG00000001014
AA Change: R174S
| 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 |
probably benign
Transcript: ENSMUST00000019616
|
| SMART Domains |
Protein: ENSMUSP00000019616
Gene: ENSMUSG00000032174
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
12 |
31 |
N/A |
INTRINSIC |
|
Pfam:ICAM_N
|
32 |
122 |
1.5e-17 |
PFAM |
|
Pfam:Ig_3
|
121 |
202 |
5.6e-4 |
PFAM |
|
low complexity region
|
284 |
292 |
N/A |
INTRINSIC |
|
IG_like
|
329 |
405 |
1.45e1 |
SMART |
|
IG
|
416 |
488 |
1.72e-2 |
SMART |
|
IG
|
499 |
569 |
5.84e-5 |
SMART |
|
IG_like
|
580 |
662 |
3.57e1 |
SMART |
|
IG
|
673 |
742 |
3.49e-3 |
SMART |
|
IGc2
|
758 |
819 |
1.97e-11 |
SMART |
|
transmembrane domain
|
833 |
855 |
N/A |
INTRINSIC |
|
low complexity region
|
884 |
902 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086399
|
| SMART Domains |
Protein: ENSMUSP00000083587
Gene: ENSMUSG00000037405
| 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: ENSMUST00000122714
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180870
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000215077
AA Change: R174S
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216917
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the Landsteiner-Wiener (LW) blood group antigen(s) that belongs to the immunoglobulin (Ig) superfamily, and that shares similarity with the intercellular adhesion molecule (ICAM) protein family. This ICAM protein contains 2 Ig-like C2-type domains and binds to the leukocyte adhesion LFA-1 protein. The molecular basis of the LW(A)/LW(B) blood group antigens is a single aa variation at position 100; Gln-100=LW(A) and Arg-100=LW(B). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased erythroblastic island formation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amph |
G |
T |
13: 19,304,776 (GRCm39) |
G398V |
probably damaging |
Het |
| C2cd3 |
T |
G |
7: 100,040,335 (GRCm39) |
S301R |
probably benign |
Het |
| Calr |
G |
A |
8: 85,571,373 (GRCm39) |
P178S |
possibly damaging |
Het |
| Cbll1 |
G |
T |
12: 31,537,940 (GRCm39) |
P271T |
probably damaging |
Het |
| Ccl7 |
A |
T |
11: 81,937,888 (GRCm39) |
D89V |
probably damaging |
Het |
| Cd82 |
T |
A |
2: 93,251,004 (GRCm39) |
I179F |
probably null |
Het |
| Cdh10 |
A |
T |
15: 18,964,081 (GRCm39) |
D81V |
probably damaging |
Het |
| Cenpo |
A |
G |
12: 4,266,685 (GRCm39) |
V141A |
probably benign |
Het |
| Dnah11 |
A |
G |
12: 118,150,657 (GRCm39) |
V367A |
probably benign |
Het |
| Fam161b |
T |
C |
12: 84,408,525 (GRCm39) |
|
probably benign |
Het |
| Gemin5 |
G |
A |
11: 58,051,644 (GRCm39) |
P268S |
probably damaging |
Het |
| Gm5965 |
T |
A |
16: 88,575,228 (GRCm39) |
C134S |
probably damaging |
Het |
| Kdm5a |
T |
A |
6: 120,362,680 (GRCm39) |
|
probably null |
Het |
| Klhl10 |
A |
G |
11: 100,336,244 (GRCm39) |
K77R |
probably benign |
Het |
| Mrgprb1 |
A |
T |
7: 48,097,291 (GRCm39) |
V207E |
probably damaging |
Het |
| Myh10 |
A |
G |
11: 68,681,534 (GRCm39) |
N1067S |
probably benign |
Het |
| Myo1b |
T |
C |
1: 51,803,113 (GRCm39) |
E856G |
possibly damaging |
Het |
| Nbea |
T |
C |
3: 55,535,914 (GRCm39) |
Y2890C |
probably damaging |
Het |
| Pcdhb16 |
T |
C |
18: 37,612,851 (GRCm39) |
S604P |
probably damaging |
Het |
| Pelp1 |
A |
T |
11: 70,285,638 (GRCm39) |
D743E |
possibly damaging |
Het |
| Pisd |
T |
C |
5: 32,895,756 (GRCm39) |
I441V |
probably benign |
Het |
| Rab25 |
A |
G |
3: 88,452,546 (GRCm39) |
S21P |
probably damaging |
Het |
| Spata31e2 |
A |
G |
1: 26,724,058 (GRCm39) |
I374T |
probably benign |
Het |
| Sspo |
G |
A |
6: 48,475,147 (GRCm39) |
|
probably benign |
Het |
| Ssr1 |
T |
C |
13: 38,167,407 (GRCm39) |
D252G |
probably damaging |
Het |
| Stx1b |
T |
C |
7: 127,409,870 (GRCm39) |
E19G |
probably damaging |
Het |
| Tbc1d23 |
T |
A |
16: 56,992,139 (GRCm39) |
E607V |
probably damaging |
Het |
| Tchhl1 |
A |
G |
3: 93,378,230 (GRCm39) |
I311M |
probably benign |
Het |
| Trpm6 |
C |
T |
19: 18,761,272 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Icam4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01835:Icam4
|
APN |
9 |
20,941,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02707:Icam4
|
APN |
9 |
20,941,770 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0360:Icam4
|
UTSW |
9 |
20,941,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0507:Icam4
|
UTSW |
9 |
20,940,799 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R5037:Icam4
|
UTSW |
9 |
20,940,937 (GRCm39) |
nonsense |
probably null |
|
|
R6084:Icam4
|
UTSW |
9 |
20,940,835 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6315:Icam4
|
UTSW |
9 |
20,941,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6379:Icam4
|
UTSW |
9 |
20,941,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6387:Icam4
|
UTSW |
9 |
20,941,505 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R6931:Icam4
|
UTSW |
9 |
20,941,747 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7768:Icam4
|
UTSW |
9 |
20,941,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation