Incidental Mutation 'IGL01298:Cd4'
| ID |
278260 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cd4
|
| Ensembl Gene |
ENSMUSG00000023274 |
| Gene Name |
CD4 antigen |
| Synonyms |
L3T4, Ly-4 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01298
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
124864692-124888221 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 124879378 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 50
(T50I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024044
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024044]
|
| AlphaFold |
P06332 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024044
AA Change: T50I
PolyPhen 2
Score 0.414 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000024044
Gene: ENSMUSG00000023274
AA Change: T50I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
21 |
N/A |
INTRINSIC |
|
IGv
|
37 |
114 |
7.02e-8 |
SMART |
|
IG
|
131 |
206 |
3.63e-1 |
SMART |
|
IG
|
212 |
317 |
3.36e0 |
SMART |
|
transmembrane domain
|
394 |
416 |
N/A |
INTRINSIC |
|
Pfam:Tcell_CD4_C
|
425 |
452 |
2.2e-18 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130378
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151594
|
| 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 of T lymphocytes that interacts with major histocompatibility complex class II antigenes and is also a receptor for the human immunodeficiency virus. This gene is expressed not only in T lymphocytes, but also in B cells, macrophages, and granulocytes. It is also expressed in specific regions of the brain. The protein functions to initiate or augment the early phase of T-cell activation, and may function as an important mediator of indirect neuronal damage in infectious and immune-mediated diseases of the central nervous system. Multiple alternatively spliced transcript variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Aug 2010]
PHENOTYPE: Mice homozygous for knock-out alleles exhibit abnormal immune system morphology and physiology. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(25) : Targeted(13) Gene trapped(6) Spontaneous(2) Chemically induced(4)
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adora2a |
G |
T |
10: 75,333,492 (GRCm38) |
W263C |
probably damaging |
Het |
| Agtpbp1 |
G |
A |
13: 59,504,226 (GRCm38) |
H424Y |
possibly damaging |
Het |
| Angpt2 |
T |
G |
8: 18,710,528 (GRCm38) |
N186T |
probably benign |
Het |
| Ank2 |
A |
G |
3: 126,959,720 (GRCm38) |
V304A |
possibly damaging |
Het |
| Atg3 |
T |
C |
16: 45,171,673 (GRCm38) |
M88T |
possibly damaging |
Het |
| Baz1a |
G |
T |
12: 54,954,809 (GRCm38) |
P142Q |
probably damaging |
Het |
| Btbd1 |
G |
T |
7: 81,794,307 (GRCm38) |
|
probably null |
Het |
| Cacnb3 |
T |
C |
15: 98,639,853 (GRCm38) |
Y70H |
probably damaging |
Het |
| Cyp7a1 |
A |
T |
4: 6,275,517 (GRCm38) |
W19R |
probably damaging |
Het |
| Dock10 |
T |
A |
1: 80,531,245 (GRCm38) |
I1610F |
probably damaging |
Het |
| Gm11444 |
C |
A |
11: 85,848,094 (GRCm38) |
D58Y |
unknown |
Het |
| Gm7168 |
A |
T |
17: 13,949,858 (GRCm38) |
T496S |
probably benign |
Het |
| Gpc5 |
A |
G |
14: 115,399,188 (GRCm38) |
S428G |
probably benign |
Het |
| Haus8 |
T |
C |
8: 71,253,113 (GRCm38) |
E309G |
probably damaging |
Het |
| Ice1 |
A |
G |
13: 70,604,904 (GRCm38) |
L1021P |
possibly damaging |
Het |
| Krtap14 |
A |
T |
16: 88,825,727 (GRCm38) |
H121Q |
probably benign |
Het |
| Nwd1 |
T |
C |
8: 72,662,331 (GRCm38) |
V170A |
probably benign |
Het |
| Olfr338 |
T |
A |
2: 36,377,448 (GRCm38) |
M224K |
probably benign |
Het |
| Olfr803 |
T |
C |
10: 129,692,029 (GRCm38) |
Y4C |
probably damaging |
Het |
| Olfr938 |
G |
A |
9: 39,078,724 (GRCm38) |
T7I |
possibly damaging |
Het |
| Pfpl |
T |
C |
19: 12,428,673 (GRCm38) |
M96T |
possibly damaging |
Het |
| Pramel5 |
A |
G |
4: 144,271,162 (GRCm38) |
|
probably benign |
Het |
| Proc |
T |
C |
18: 32,123,552 (GRCm38) |
N354S |
probably benign |
Het |
| Prss40 |
T |
G |
1: 34,560,766 (GRCm38) |
I47L |
probably benign |
Het |
| Tmprss7 |
T |
C |
16: 45,664,175 (GRCm38) |
R541G |
probably benign |
Het |
| Togaram2 |
T |
C |
17: 71,716,513 (GRCm38) |
V788A |
possibly damaging |
Het |
| Trbv19 |
T |
C |
6: 41,178,904 (GRCm38) |
Y70H |
probably damaging |
Het |
| Ttk |
C |
T |
9: 83,865,142 (GRCm38) |
S678L |
probably benign |
Het |
| Vmn2r85 |
T |
C |
10: 130,418,821 (GRCm38) |
T665A |
probably benign |
Het |
|
| Other mutations in Cd4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
maat
|
APN |
6 |
124,866,684 (GRCm38) |
unclassified |
probably benign |
|
|
seshat
|
APN |
6 |
124,872,977 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
thoth
|
APN |
6 |
124,873,140 (GRCm38) |
splice site |
probably benign |
|
|
IGL00783:Cd4
|
APN |
6 |
124,872,989 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
IGL00784:Cd4
|
APN |
6 |
124,872,989 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
IGL01294:Cd4
|
APN |
6 |
124,879,378 (GRCm38) |
missense |
probably benign |
0.41 |
|
IGL01295:Cd4
|
APN |
6 |
124,879,378 (GRCm38) |
missense |
probably benign |
0.41 |
|
IGL01296:Cd4
|
APN |
6 |
124,879,378 (GRCm38) |
missense |
probably benign |
0.41 |
|
IGL01299:Cd4
|
APN |
6 |
124,879,378 (GRCm38) |
missense |
probably benign |
0.41 |
|
IGL01397:Cd4
|
APN |
6 |
124,879,378 (GRCm38) |
missense |
probably benign |
0.41 |
|
IGL01401:Cd4
|
APN |
6 |
124,879,378 (GRCm38) |
missense |
probably benign |
0.41 |
|
IGL01402:Cd4
|
APN |
6 |
124,879,378 (GRCm38) |
missense |
probably benign |
0.41 |
|
IGL01407:Cd4
|
APN |
6 |
124,879,378 (GRCm38) |
missense |
probably benign |
0.41 |
|
craw
|
UTSW |
6 |
124,867,746 (GRCm38) |
nonsense |
probably null |
|
|
Doubles
|
UTSW |
6 |
124,872,458 (GRCm38) |
missense |
probably benign |
0.01 |
|
fourless
|
UTSW |
6 |
124,870,244 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0152:Cd4
|
UTSW |
6 |
124,867,746 (GRCm38) |
nonsense |
probably null |
|
|
R0196:Cd4
|
UTSW |
6 |
124,867,806 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1769:Cd4
|
UTSW |
6 |
124,866,655 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R1992:Cd4
|
UTSW |
6 |
124,867,688 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
R2126:Cd4
|
UTSW |
6 |
124,870,536 (GRCm38) |
missense |
probably benign |
0.01 |
|
R3237:Cd4
|
UTSW |
6 |
124,867,670 (GRCm38) |
missense |
probably benign |
0.37 |
|
R3706:Cd4
|
UTSW |
6 |
124,879,388 (GRCm38) |
missense |
probably benign |
|
|
R4535:Cd4
|
UTSW |
6 |
124,870,451 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5026:Cd4
|
UTSW |
6 |
124,866,620 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R5084:Cd4
|
UTSW |
6 |
124,870,439 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6628:Cd4
|
UTSW |
6 |
124,879,468 (GRCm38) |
missense |
unknown |
|
|
R6772:Cd4
|
UTSW |
6 |
124,872,458 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7038:Cd4
|
UTSW |
6 |
124,870,254 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7083:Cd4
|
UTSW |
6 |
124,870,572 (GRCm38) |
missense |
probably benign |
0.16 |
|
R7313:Cd4
|
UTSW |
6 |
124,867,103 (GRCm38) |
missense |
probably benign |
0.15 |
|
R7394:Cd4
|
UTSW |
6 |
124,873,041 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7943:Cd4
|
UTSW |
6 |
124,870,244 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9187:Cd4
|
UTSW |
6 |
124,867,688 (GRCm38) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2015-04-16 |
Incidental Mutation