Incidental Mutation 'R3237:Cd4'
ID |
259091 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cd4
|
Ensembl Gene |
ENSMUSG00000023274 |
Gene Name |
CD4 antigen |
Synonyms |
Ly-4, L3T4 |
MMRRC Submission |
040619-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3237 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
124841655-124865184 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 124844633 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 384
(I384N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000024044
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024044]
[ENSMUST00000046893]
[ENSMUST00000204667]
|
AlphaFold |
P06332 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000024044
AA Change: I384N
PolyPhen 2
Score 0.369 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000024044 Gene: ENSMUSG00000023274 AA Change: I384N
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 |
probably benign
Transcript: ENSMUST00000046893
|
SMART Domains |
Protein: ENSMUSP00000038536 Gene: ENSMUSG00000038390
Domain | Start | End | E-Value | Type |
Pfam:7tm_1
|
30 |
337 |
1.1e-19 |
PFAM |
low complexity region
|
348 |
362 |
N/A |
INTRINSIC |
low complexity region
|
462 |
477 |
N/A |
INTRINSIC |
low complexity region
|
482 |
504 |
N/A |
INTRINSIC |
low complexity region
|
513 |
540 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145818
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145977
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151594
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204161
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204253
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204667
|
SMART Domains |
Protein: ENSMUSP00000145267 Gene: ENSMUSG00000038390
Domain | Start | End | E-Value | Type |
Pfam:7tm_1
|
30 |
337 |
1.1e-19 |
PFAM |
low complexity region
|
348 |
362 |
N/A |
INTRINSIC |
low complexity region
|
462 |
477 |
N/A |
INTRINSIC |
low complexity region
|
482 |
504 |
N/A |
INTRINSIC |
low complexity region
|
513 |
540 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.4%
|
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
Aff2 |
T |
A |
X: 68,907,543 (GRCm39) |
V1175E |
possibly damaging |
Het |
Agbl3 |
A |
G |
6: 34,800,022 (GRCm39) |
|
probably null |
Het |
Bcar3 |
C |
A |
3: 122,318,645 (GRCm39) |
Q678K |
probably benign |
Het |
Ccm2 |
G |
A |
11: 6,520,090 (GRCm39) |
V53I |
probably benign |
Het |
Cd3e |
G |
T |
9: 44,913,608 (GRCm39) |
C42* |
probably null |
Het |
Ceacam11 |
T |
A |
7: 17,707,379 (GRCm39) |
F54L |
probably benign |
Het |
Cfap46 |
A |
G |
7: 139,197,506 (GRCm39) |
S2122P |
probably damaging |
Het |
Clptm1 |
A |
G |
7: 19,369,271 (GRCm39) |
S461P |
probably damaging |
Het |
Dlat |
T |
C |
9: 50,549,331 (GRCm39) |
T518A |
possibly damaging |
Het |
Dnah17 |
T |
C |
11: 117,985,680 (GRCm39) |
T1466A |
probably benign |
Het |
Dnah9 |
G |
A |
11: 65,845,815 (GRCm39) |
T3023I |
probably benign |
Het |
Fam181a |
T |
G |
12: 103,282,348 (GRCm39) |
C84W |
possibly damaging |
Het |
Gask1a |
C |
T |
9: 121,793,935 (GRCm39) |
P30S |
possibly damaging |
Het |
H2-Q6 |
C |
A |
17: 35,644,676 (GRCm39) |
T155K |
probably damaging |
Het |
Hlx |
G |
T |
1: 184,464,184 (GRCm39) |
A52D |
probably damaging |
Het |
Inpp5b |
A |
G |
4: 124,674,279 (GRCm39) |
R329G |
probably benign |
Het |
Klrb1f |
A |
T |
6: 129,031,306 (GRCm39) |
I168L |
possibly damaging |
Het |
Lama4 |
A |
T |
10: 38,973,175 (GRCm39) |
I1581F |
probably damaging |
Het |
Lipn |
A |
G |
19: 34,046,138 (GRCm39) |
N37S |
probably benign |
Het |
Lyzl4 |
T |
C |
9: 121,413,233 (GRCm39) |
D65G |
probably benign |
Het |
Med29 |
A |
G |
7: 28,092,046 (GRCm39) |
|
probably benign |
Het |
Myrip |
C |
A |
9: 120,270,473 (GRCm39) |
D574E |
possibly damaging |
Het |
N4bp3 |
A |
T |
11: 51,536,761 (GRCm39) |
F104Y |
probably damaging |
Het |
Nlrp9a |
A |
T |
7: 26,270,810 (GRCm39) |
K892* |
probably null |
Het |
Nsd1 |
T |
A |
13: 55,460,701 (GRCm39) |
H2309Q |
possibly damaging |
Het |
Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
Optn |
T |
C |
2: 5,039,014 (GRCm39) |
S370G |
probably damaging |
Het |
Pbrm1 |
T |
C |
14: 30,754,432 (GRCm39) |
F151L |
probably damaging |
Het |
Plekhs1 |
A |
T |
19: 56,453,032 (GRCm39) |
|
probably null |
Het |
Rpn1 |
A |
G |
6: 88,080,396 (GRCm39) |
K565R |
probably benign |
Het |
Rrh |
T |
C |
3: 129,605,360 (GRCm39) |
Y110C |
probably damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Ryr1 |
C |
T |
7: 28,769,075 (GRCm39) |
|
probably null |
Het |
Scai |
C |
T |
2: 39,040,326 (GRCm39) |
|
probably benign |
Het |
Scap |
C |
G |
9: 110,208,650 (GRCm39) |
P564A |
probably damaging |
Het |
Setdb1 |
A |
G |
3: 95,246,065 (GRCm39) |
V619A |
probably damaging |
Het |
Slc41a3 |
T |
C |
6: 90,613,847 (GRCm39) |
Y226H |
probably benign |
Het |
Slf2 |
A |
G |
19: 44,930,773 (GRCm39) |
I617V |
probably benign |
Het |
Sned1 |
G |
A |
1: 93,186,725 (GRCm39) |
R180Q |
probably benign |
Het |
Spata22 |
T |
A |
11: 73,236,713 (GRCm39) |
F340I |
probably damaging |
Het |
St8sia3 |
T |
C |
18: 64,402,886 (GRCm39) |
F175S |
probably damaging |
Het |
Supt20 |
T |
C |
3: 54,616,501 (GRCm39) |
S253P |
possibly damaging |
Het |
Syngap1 |
T |
A |
17: 27,176,067 (GRCm39) |
Y118* |
probably null |
Het |
Szt2 |
A |
C |
4: 118,240,231 (GRCm39) |
|
probably null |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Uba3 |
G |
T |
6: 97,163,201 (GRCm39) |
T319K |
probably damaging |
Het |
Vmn2r112 |
T |
A |
17: 22,822,096 (GRCm39) |
V258E |
probably damaging |
Het |
Zc3hav1 |
A |
G |
6: 38,296,650 (GRCm39) |
L751S |
probably damaging |
Het |
Zfp804b |
T |
C |
5: 6,819,239 (GRCm39) |
M1275V |
probably benign |
Het |
Zgrf1 |
A |
G |
3: 127,407,024 (GRCm39) |
D1597G |
probably damaging |
Het |
|
Other mutations in Cd4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
maat
|
APN |
6 |
124,843,647 (GRCm39) |
unclassified |
probably benign |
|
seshat
|
APN |
6 |
124,849,940 (GRCm39) |
missense |
possibly damaging |
0.81 |
thoth
|
APN |
6 |
124,850,103 (GRCm39) |
splice site |
probably benign |
|
IGL00783:Cd4
|
APN |
6 |
124,849,952 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL00784:Cd4
|
APN |
6 |
124,849,952 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL01294:Cd4
|
APN |
6 |
124,856,341 (GRCm39) |
missense |
probably benign |
0.41 |
IGL01295:Cd4
|
APN |
6 |
124,856,341 (GRCm39) |
missense |
probably benign |
0.41 |
IGL01296:Cd4
|
APN |
6 |
124,856,341 (GRCm39) |
missense |
probably benign |
0.41 |
IGL01298:Cd4
|
APN |
6 |
124,856,341 (GRCm39) |
missense |
probably benign |
0.41 |
IGL01299:Cd4
|
APN |
6 |
124,856,341 (GRCm39) |
missense |
probably benign |
0.41 |
IGL01397:Cd4
|
APN |
6 |
124,856,341 (GRCm39) |
missense |
probably benign |
0.41 |
IGL01401:Cd4
|
APN |
6 |
124,856,341 (GRCm39) |
missense |
probably benign |
0.41 |
IGL01402:Cd4
|
APN |
6 |
124,856,341 (GRCm39) |
missense |
probably benign |
0.41 |
IGL01407:Cd4
|
APN |
6 |
124,856,341 (GRCm39) |
missense |
probably benign |
0.41 |
craw
|
UTSW |
6 |
124,844,709 (GRCm39) |
nonsense |
probably null |
|
Doubles
|
UTSW |
6 |
124,849,421 (GRCm39) |
missense |
probably benign |
0.01 |
fourless
|
UTSW |
6 |
124,847,207 (GRCm39) |
critical splice donor site |
probably null |
|
R0152:Cd4
|
UTSW |
6 |
124,844,709 (GRCm39) |
nonsense |
probably null |
|
R0196:Cd4
|
UTSW |
6 |
124,844,769 (GRCm39) |
missense |
probably damaging |
0.97 |
R1769:Cd4
|
UTSW |
6 |
124,843,618 (GRCm39) |
missense |
possibly damaging |
0.71 |
R1992:Cd4
|
UTSW |
6 |
124,844,651 (GRCm39) |
missense |
possibly damaging |
0.59 |
R2126:Cd4
|
UTSW |
6 |
124,847,499 (GRCm39) |
missense |
probably benign |
0.01 |
R3706:Cd4
|
UTSW |
6 |
124,856,351 (GRCm39) |
missense |
probably benign |
|
R4535:Cd4
|
UTSW |
6 |
124,847,414 (GRCm39) |
missense |
probably benign |
0.01 |
R5026:Cd4
|
UTSW |
6 |
124,843,583 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5084:Cd4
|
UTSW |
6 |
124,847,402 (GRCm39) |
missense |
probably damaging |
1.00 |
R6628:Cd4
|
UTSW |
6 |
124,856,431 (GRCm39) |
missense |
unknown |
|
R6772:Cd4
|
UTSW |
6 |
124,849,421 (GRCm39) |
missense |
probably benign |
0.01 |
R7038:Cd4
|
UTSW |
6 |
124,847,217 (GRCm39) |
missense |
probably damaging |
0.98 |
R7083:Cd4
|
UTSW |
6 |
124,847,535 (GRCm39) |
missense |
probably benign |
0.16 |
R7313:Cd4
|
UTSW |
6 |
124,844,066 (GRCm39) |
missense |
probably benign |
0.15 |
R7394:Cd4
|
UTSW |
6 |
124,850,004 (GRCm39) |
missense |
probably benign |
0.00 |
R7943:Cd4
|
UTSW |
6 |
124,847,207 (GRCm39) |
critical splice donor site |
probably null |
|
R9187:Cd4
|
UTSW |
6 |
124,844,651 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- CCTAAGCTGTGTGGAAGTGG -3'
(R):5'- AGCTCAACAATACTTTGACCTGTG -3'
Sequencing Primer
(F):5'- GGAACCTAGAGCCCAGGAC -3'
(R):5'- CCTGTGAGGTGATGGGACC -3'
|
Posted On |
2015-01-23 |