Incidental Mutation 'IGL03035:Cd84'
ID |
408625 |
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 # |
IGL03035
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
171667265-171718285 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 171679601 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 93
(V93A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115674
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042302]
[ENSMUST00000135386]
[ENSMUST00000136479]
[ENSMUST00000155802]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042302
AA Change: V93A
PolyPhen 2
Score 0.735 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000047024 Gene: ENSMUSG00000038147 AA Change: V93A
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 |
probably damaging
Transcript: ENSMUST00000135386
AA Change: V93A
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000115674 Gene: ENSMUSG00000038147 AA Change: V93A
Domain | Start | End | E-Value | Type |
IG
|
26 |
126 |
3.16e-1 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000136479
AA Change: V93A
PolyPhen 2
Score 0.735 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000122951 Gene: ENSMUSG00000038147 AA Change: V93A
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 |
possibly damaging
Transcript: ENSMUST00000155802
AA Change: V93A
PolyPhen 2
Score 0.735 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000120881 Gene: ENSMUSG00000038147 AA Change: V93A
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc9 |
A |
G |
6: 142,573,319 (GRCm39) |
L1004P |
probably damaging |
Het |
Adgrf5 |
T |
C |
17: 43,741,518 (GRCm39) |
I385T |
possibly damaging |
Het |
Alpk3 |
T |
C |
7: 80,728,352 (GRCm39) |
V494A |
probably benign |
Het |
Camta2 |
C |
A |
11: 70,562,335 (GRCm39) |
E1021* |
probably null |
Het |
Ccdc6 |
T |
A |
10: 70,018,006 (GRCm39) |
S334T |
probably benign |
Het |
Ceacam20 |
T |
C |
7: 19,711,833 (GRCm39) |
|
probably null |
Het |
Crip2 |
A |
C |
12: 113,107,745 (GRCm39) |
T103P |
probably benign |
Het |
Cyp4f14 |
T |
A |
17: 33,133,608 (GRCm39) |
T83S |
probably benign |
Het |
Dapk1 |
T |
A |
13: 60,864,587 (GRCm39) |
V127D |
probably damaging |
Het |
Dnah7c |
A |
G |
1: 46,563,277 (GRCm39) |
E609G |
probably benign |
Het |
Dscam |
T |
A |
16: 96,621,170 (GRCm39) |
I513F |
possibly damaging |
Het |
Ell2 |
T |
A |
13: 75,911,767 (GRCm39) |
L351* |
probably null |
Het |
Emcn |
G |
T |
3: 137,078,612 (GRCm39) |
|
probably null |
Het |
Fdft1 |
A |
T |
14: 63,400,838 (GRCm39) |
C98* |
probably null |
Het |
Fer1l4 |
A |
G |
2: 155,864,526 (GRCm39) |
S1663P |
possibly damaging |
Het |
Flt4 |
C |
A |
11: 49,536,724 (GRCm39) |
Y1231* |
probably null |
Het |
Gatb |
A |
G |
3: 85,509,254 (GRCm39) |
K139E |
probably damaging |
Het |
Gtf2a1 |
C |
A |
12: 91,539,411 (GRCm39) |
|
probably benign |
Het |
Gtf3c2 |
A |
C |
5: 31,323,358 (GRCm39) |
V574G |
possibly damaging |
Het |
Heatr1 |
T |
C |
13: 12,428,100 (GRCm39) |
|
probably benign |
Het |
Homer2 |
T |
A |
7: 81,274,026 (GRCm39) |
T57S |
possibly damaging |
Het |
Ice2 |
C |
A |
9: 69,332,970 (GRCm39) |
F825L |
probably benign |
Het |
Lepr |
C |
A |
4: 101,622,177 (GRCm39) |
L370I |
probably damaging |
Het |
Nalcn |
G |
A |
14: 123,515,630 (GRCm39) |
Q1724* |
probably null |
Het |
Nufip1 |
A |
G |
14: 76,353,258 (GRCm39) |
D222G |
probably damaging |
Het |
Or4f4b |
T |
C |
2: 111,314,168 (GRCm39) |
V159A |
probably benign |
Het |
Prl3b1 |
A |
G |
13: 27,433,516 (GRCm39) |
|
probably benign |
Het |
Ptbp3 |
A |
T |
4: 59,477,218 (GRCm39) |
M393K |
probably benign |
Het |
Ptgds |
T |
C |
2: 25,359,622 (GRCm39) |
T22A |
probably benign |
Het |
Rapgef2 |
T |
A |
3: 79,001,731 (GRCm39) |
H282L |
probably damaging |
Het |
Rars2 |
T |
C |
4: 34,656,865 (GRCm39) |
|
probably null |
Het |
Rnf213 |
G |
A |
11: 119,336,452 (GRCm39) |
|
probably benign |
Het |
Ros1 |
C |
A |
10: 51,952,080 (GRCm39) |
|
probably benign |
Het |
Slx4ip |
A |
G |
2: 136,909,623 (GRCm39) |
D206G |
possibly damaging |
Het |
Sprr1a |
T |
A |
3: 92,391,884 (GRCm39) |
D39V |
probably benign |
Het |
Stab1 |
A |
G |
14: 30,869,726 (GRCm39) |
V1442A |
probably benign |
Het |
Tbx3 |
C |
A |
5: 119,821,161 (GRCm39) |
|
probably benign |
Het |
Ubl3 |
A |
G |
5: 148,442,947 (GRCm39) |
*118Q |
probably null |
Het |
Vmn2r55 |
G |
A |
7: 12,404,743 (GRCm39) |
S220L |
probably benign |
Het |
Vps36 |
A |
G |
8: 22,708,431 (GRCm39) |
K362E |
probably benign |
Het |
Zfp268 |
C |
A |
4: 145,348,802 (GRCm39) |
Q80K |
possibly damaging |
Het |
|
Other mutations in Cd84 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00509:Cd84
|
APN |
1 |
171,679,704 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01371:Cd84
|
APN |
1 |
171,713,937 (GRCm39) |
missense |
probably benign |
0.36 |
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 |
2016-08-02 |