Incidental Mutation 'IGL00509:Cd84'
ID |
7328 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cd84
|
Ensembl Gene |
ENSMUSG00000038147 |
Gene Name |
CD84 antigen |
Synonyms |
SLAMF5, CDw84, A130013D22Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00509
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
171667265-171718285 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 171679704 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120881
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042302]
[ENSMUST00000135386]
[ENSMUST00000136479]
[ENSMUST00000155802]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000042302
|
SMART Domains |
Protein: ENSMUSP00000047024 Gene: ENSMUSG00000038147
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
IG
|
26 |
126 |
3.16e-1 |
SMART |
IG_like
|
137 |
208 |
1.02e1 |
SMART |
transmembrane domain
|
220 |
242 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128189
|
Predicted Effect |
silent
Transcript: ENSMUST00000135386
|
SMART Domains |
Protein: ENSMUSP00000115674 Gene: ENSMUSG00000038147
Domain | Start | End | E-Value | Type |
IG
|
26 |
126 |
3.16e-1 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000136479
|
SMART Domains |
Protein: ENSMUSP00000122951 Gene: ENSMUSG00000038147
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
IG
|
26 |
126 |
3.16e-1 |
SMART |
IG_like
|
137 |
208 |
1.02e1 |
SMART |
transmembrane domain
|
220 |
242 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000155802
|
SMART Domains |
Protein: ENSMUSP00000120881 Gene: ENSMUSG00000038147
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
IG
|
26 |
126 |
3.16e-1 |
SMART |
IG_like
|
137 |
208 |
1.02e1 |
SMART |
transmembrane domain
|
220 |
242 |
N/A |
INTRINSIC |
|
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 a membrane glycoprotein that is a member of the signaling lymphocyte activation molecule (SLAM) family. This family forms a subset of the larger CD2 cell-surface receptor Ig superfamily. The encoded protein is a homophilic adhesion molecule that is expressed in numerous immune cells types and is involved in regulating receptor-mediated signaling in those cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011] PHENOTYPE: Mice homozygous for a knock-out allele of this gene show defects in T follicular helper function and germinal center formation. Mice homozygous for a different knock-out allele display normal platelet physiology and thrombus formation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A930011G23Rik |
T |
C |
5: 99,391,102 (GRCm39) |
|
probably null |
Het |
Abr |
A |
G |
11: 76,313,915 (GRCm39) |
L514P |
probably damaging |
Het |
Ahnak |
T |
A |
19: 8,987,315 (GRCm39) |
D2866E |
possibly damaging |
Het |
Bfsp1 |
T |
A |
2: 143,673,812 (GRCm39) |
T293S |
probably damaging |
Het |
Ccr1 |
C |
T |
9: 123,764,090 (GRCm39) |
V147I |
probably benign |
Het |
Cep192 |
T |
C |
18: 67,991,939 (GRCm39) |
V1939A |
possibly damaging |
Het |
Chrnb4 |
A |
T |
9: 54,943,878 (GRCm39) |
L80Q |
probably damaging |
Het |
Ckmt2 |
A |
T |
13: 92,011,382 (GRCm39) |
L76H |
probably damaging |
Het |
Cntnap2 |
C |
T |
6: 45,992,197 (GRCm39) |
P375S |
possibly damaging |
Het |
Cped1 |
A |
T |
6: 22,215,522 (GRCm39) |
L685F |
probably damaging |
Het |
Dab2ip |
T |
C |
2: 35,610,025 (GRCm39) |
S682P |
probably damaging |
Het |
Dclk1 |
A |
T |
3: 55,154,707 (GRCm39) |
T46S |
probably damaging |
Het |
Eif2d |
T |
A |
1: 131,094,089 (GRCm39) |
C427S |
probably benign |
Het |
Fat4 |
T |
A |
3: 38,943,188 (GRCm39) |
Y694N |
probably damaging |
Het |
Gm15217 |
T |
C |
14: 46,620,768 (GRCm39) |
|
probably benign |
Het |
Gpr35 |
T |
C |
1: 92,910,594 (GRCm39) |
I102T |
probably damaging |
Het |
Grk4 |
T |
A |
5: 34,873,634 (GRCm39) |
N233K |
probably damaging |
Het |
Hdac3 |
T |
C |
18: 38,087,938 (GRCm39) |
D10G |
possibly damaging |
Het |
Hexb |
G |
A |
13: 97,318,437 (GRCm39) |
T308M |
probably damaging |
Het |
Inpp5j |
C |
A |
11: 3,451,595 (GRCm39) |
D436Y |
possibly damaging |
Het |
Kif18a |
A |
G |
2: 109,148,333 (GRCm39) |
E609G |
possibly damaging |
Het |
Kif24 |
T |
C |
4: 41,413,826 (GRCm39) |
|
probably null |
Het |
Lrp4 |
G |
A |
2: 91,316,519 (GRCm39) |
|
probably benign |
Het |
Mat2b |
T |
C |
11: 40,575,554 (GRCm39) |
K161E |
possibly damaging |
Het |
Nek2 |
T |
G |
1: 191,559,490 (GRCm39) |
|
probably benign |
Het |
Numa1 |
A |
G |
7: 101,662,493 (GRCm39) |
T1965A |
possibly damaging |
Het |
Oca2 |
G |
A |
7: 55,930,594 (GRCm39) |
G137D |
probably damaging |
Het |
Pdcl2 |
T |
A |
5: 76,472,959 (GRCm39) |
D3V |
probably damaging |
Het |
Ranbp17 |
T |
C |
11: 33,443,402 (GRCm39) |
N91S |
probably benign |
Het |
Siglech |
A |
T |
7: 55,418,635 (GRCm39) |
D146V |
possibly damaging |
Het |
Slc4a3 |
C |
T |
1: 75,531,727 (GRCm39) |
T898M |
probably damaging |
Het |
Sp3 |
A |
G |
2: 72,768,406 (GRCm39) |
|
probably benign |
Het |
Tln1 |
C |
T |
4: 43,542,719 (GRCm39) |
V1396I |
probably benign |
Het |
Ugt2a3 |
T |
A |
5: 87,473,514 (GRCm39) |
M468L |
probably damaging |
Het |
|
Other mutations in Cd84 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01371:Cd84
|
APN |
1 |
171,713,937 (GRCm39) |
missense |
probably benign |
0.36 |
IGL03035:Cd84
|
APN |
1 |
171,679,601 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03098:Cd84
|
APN |
1 |
171,700,267 (GRCm39) |
missense |
possibly damaging |
0.78 |
R0511:Cd84
|
UTSW |
1 |
171,700,494 (GRCm39) |
missense |
probably benign |
0.00 |
R1244:Cd84
|
UTSW |
1 |
171,679,397 (GRCm39) |
missense |
probably damaging |
0.99 |
R1438:Cd84
|
UTSW |
1 |
171,679,685 (GRCm39) |
missense |
probably damaging |
1.00 |
R1459:Cd84
|
UTSW |
1 |
171,679,510 (GRCm39) |
missense |
probably benign |
0.02 |
R1654:Cd84
|
UTSW |
1 |
171,712,173 (GRCm39) |
missense |
possibly damaging |
0.69 |
R1658:Cd84
|
UTSW |
1 |
171,700,317 (GRCm39) |
missense |
possibly damaging |
0.78 |
R1659:Cd84
|
UTSW |
1 |
171,700,317 (GRCm39) |
missense |
possibly damaging |
0.78 |
R1765:Cd84
|
UTSW |
1 |
171,700,317 (GRCm39) |
missense |
possibly damaging |
0.78 |
R1771:Cd84
|
UTSW |
1 |
171,700,317 (GRCm39) |
missense |
possibly damaging |
0.78 |
R1776:Cd84
|
UTSW |
1 |
171,700,317 (GRCm39) |
missense |
possibly damaging |
0.78 |
R1799:Cd84
|
UTSW |
1 |
171,700,317 (GRCm39) |
missense |
possibly damaging |
0.78 |
R1815:Cd84
|
UTSW |
1 |
171,700,317 (GRCm39) |
missense |
possibly damaging |
0.78 |
R1816:Cd84
|
UTSW |
1 |
171,700,317 (GRCm39) |
missense |
possibly damaging |
0.78 |
R1982:Cd84
|
UTSW |
1 |
171,712,152 (GRCm39) |
splice site |
probably null |
|
R1990:Cd84
|
UTSW |
1 |
171,700,317 (GRCm39) |
missense |
possibly damaging |
0.78 |
R2056:Cd84
|
UTSW |
1 |
171,700,317 (GRCm39) |
missense |
possibly damaging |
0.78 |
R2057:Cd84
|
UTSW |
1 |
171,700,317 (GRCm39) |
missense |
possibly damaging |
0.78 |
R2058:Cd84
|
UTSW |
1 |
171,700,317 (GRCm39) |
missense |
possibly damaging |
0.78 |
R2098:Cd84
|
UTSW |
1 |
171,713,148 (GRCm39) |
missense |
probably benign |
0.07 |
R4674:Cd84
|
UTSW |
1 |
171,700,887 (GRCm39) |
missense |
possibly damaging |
0.82 |
R4675:Cd84
|
UTSW |
1 |
171,700,887 (GRCm39) |
missense |
possibly damaging |
0.82 |
R4806:Cd84
|
UTSW |
1 |
171,679,688 (GRCm39) |
missense |
probably benign |
0.00 |
R4828:Cd84
|
UTSW |
1 |
171,700,315 (GRCm39) |
missense |
probably damaging |
0.97 |
R4908:Cd84
|
UTSW |
1 |
171,700,432 (GRCm39) |
missense |
probably damaging |
0.96 |
R5366:Cd84
|
UTSW |
1 |
171,700,872 (GRCm39) |
missense |
probably damaging |
1.00 |
R5725:Cd84
|
UTSW |
1 |
171,700,928 (GRCm39) |
missense |
probably benign |
0.00 |
R5883:Cd84
|
UTSW |
1 |
171,700,405 (GRCm39) |
missense |
possibly damaging |
0.58 |
R6722:Cd84
|
UTSW |
1 |
171,700,344 (GRCm39) |
missense |
probably damaging |
0.98 |
R6966:Cd84
|
UTSW |
1 |
171,713,976 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7513:Cd84
|
UTSW |
1 |
171,712,185 (GRCm39) |
missense |
probably benign |
0.01 |
R7733:Cd84
|
UTSW |
1 |
171,668,226 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
R9123:Cd84
|
UTSW |
1 |
171,712,153 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9134:Cd84
|
UTSW |
1 |
171,679,413 (GRCm39) |
missense |
probably damaging |
1.00 |
R9441:Cd84
|
UTSW |
1 |
171,713,994 (GRCm39) |
critical splice donor site |
probably null |
|
R9702:Cd84
|
UTSW |
1 |
171,700,498 (GRCm39) |
missense |
probably benign |
0.01 |
|
Posted On |
2012-04-20 |