Incidental Mutation 'R6628:Cd4'
| ID |
524907 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd4
|
| Ensembl Gene |
ENSMUSG00000023274 |
| Gene Name |
CD4 antigen |
| Synonyms |
Ly-4, L3T4 |
| MMRRC Submission |
044750-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6628 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
124841655-124865184 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 124856431 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 20
(L20P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024044
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024044]
|
| AlphaFold |
P06332 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000024044
AA Change: L20P
|
| SMART Domains |
Protein: ENSMUSP00000024044
Gene: ENSMUSG00000023274
AA Change: L20P
| 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 |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.9%
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts1 |
A |
C |
16: 85,592,713 (GRCm39) |
M565R |
probably benign |
Het |
| Chrm2 |
G |
T |
6: 36,500,292 (GRCm39) |
V50F |
probably damaging |
Het |
| Clasp2 |
A |
G |
9: 113,725,788 (GRCm39) |
T828A |
probably damaging |
Het |
| Clec4a4 |
A |
G |
6: 122,989,763 (GRCm39) |
K135E |
probably benign |
Het |
| Clmn |
T |
C |
12: 104,740,045 (GRCm39) |
R961G |
probably damaging |
Het |
| Cyp2s1 |
T |
C |
7: 25,514,466 (GRCm39) |
K64E |
probably benign |
Het |
| Dagla |
T |
C |
19: 10,240,591 (GRCm39) |
D213G |
probably damaging |
Het |
| Dsp |
A |
T |
13: 38,351,598 (GRCm39) |
E139V |
possibly damaging |
Het |
| Fam168b |
C |
A |
1: 34,875,822 (GRCm39) |
G21V |
probably damaging |
Het |
| Gtf3c1 |
A |
T |
7: 125,267,246 (GRCm39) |
D928E |
probably benign |
Het |
| Gulo |
T |
C |
14: 66,241,619 (GRCm39) |
K80E |
probably benign |
Het |
| H2-T9 |
T |
C |
17: 36,439,946 (GRCm39) |
S63G |
possibly damaging |
Het |
| Kdm5d |
A |
G |
Y: 900,525 (GRCm39) |
Y190C |
probably damaging |
Homo |
| Kif27 |
A |
T |
13: 58,502,611 (GRCm39) |
H22Q |
probably damaging |
Het |
| Kmt2c |
T |
C |
5: 25,503,926 (GRCm39) |
D383G |
probably benign |
Het |
| Lmtk2 |
A |
G |
5: 144,111,503 (GRCm39) |
E741G |
probably benign |
Het |
| Mphosph9 |
G |
T |
5: 124,436,825 (GRCm39) |
N506K |
probably damaging |
Het |
| Myo16 |
T |
C |
8: 10,620,638 (GRCm39) |
S1674P |
probably damaging |
Het |
| Or5h26 |
T |
C |
16: 58,988,344 (GRCm39) |
H54R |
probably benign |
Het |
| Or8j3c |
T |
G |
2: 86,253,361 (GRCm39) |
N220H |
probably benign |
Het |
| Pdcd10 |
A |
G |
3: 75,428,378 (GRCm39) |
V82A |
probably damaging |
Het |
| Ptpn11 |
G |
T |
5: 121,272,892 (GRCm39) |
|
probably null |
Het |
| Pxdn |
T |
C |
12: 30,049,917 (GRCm39) |
L475P |
probably damaging |
Het |
| Senp6 |
A |
G |
9: 80,040,236 (GRCm39) |
D781G |
probably damaging |
Het |
| Tbc1d5 |
T |
C |
17: 51,043,236 (GRCm39) |
T751A |
probably benign |
Het |
| Tbx18 |
A |
T |
9: 87,597,588 (GRCm39) |
Y315* |
probably null |
Het |
| Wrap53 |
T |
C |
11: 69,452,970 (GRCm39) |
K446E |
probably benign |
Het |
| Wwp1 |
T |
C |
4: 19,661,963 (GRCm39) |
|
probably null |
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 |
|
R3237:Cd4
|
UTSW |
6 |
124,844,633 (GRCm39) |
missense |
probably benign |
0.37 |
|
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 |
|
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'- CCATCATGGGACTTTGGGCTTC -3'
(R):5'- TGCCGAGCCATCTCTCTTAG -3'
Sequencing Primer
(F):5'- GGCTTCTAGGAATAAGGTTCATTC -3'
(R):5'- CTTAGGCGCTTGCTGCTGC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation