Incidental Mutation 'R4535:Cd4'
| ID |
333287 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd4
|
| Ensembl Gene |
ENSMUSG00000023274 |
| Gene Name |
CD4 antigen |
| Synonyms |
Ly-4, L3T4 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4535 (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 124847414 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Tyrosine
at position 250
(F250Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024044
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024044]
|
| AlphaFold |
P06332 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024044
AA Change: F250Y
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000024044
Gene: ENSMUSG00000023274
AA Change: F250Y
| 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: ENSMUST00000145818
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145977
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151594
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef4 |
T |
C |
1: 34,762,162 (GRCm39) |
S473P |
unknown |
Het |
| Azin1 |
A |
T |
15: 38,493,849 (GRCm39) |
I258N |
probably benign |
Het |
| Bod1l |
G |
A |
5: 41,989,574 (GRCm39) |
A383V |
probably benign |
Het |
| Carmil3 |
GGACGA |
GGA |
14: 55,736,933 (GRCm39) |
|
probably benign |
Het |
| Cd200r3 |
T |
A |
16: 44,774,552 (GRCm39) |
D188E |
probably benign |
Het |
| Clcn4 |
T |
A |
7: 7,290,813 (GRCm39) |
Y662F |
probably benign |
Het |
| Cpa2 |
T |
C |
6: 30,552,020 (GRCm39) |
V249A |
probably benign |
Het |
| Depdc5 |
CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT |
CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT |
5: 33,067,751 (GRCm39) |
|
probably benign |
Het |
| Dhx57 |
A |
G |
17: 80,582,511 (GRCm39) |
Y365H |
probably damaging |
Het |
| Dsg1c |
A |
G |
18: 20,408,322 (GRCm39) |
E457G |
probably benign |
Het |
| Eef2k |
T |
A |
7: 120,457,822 (GRCm39) |
Y60* |
probably null |
Het |
| Efcc1 |
A |
G |
6: 87,730,133 (GRCm39) |
D482G |
probably null |
Het |
| Exoc4 |
C |
T |
6: 33,254,179 (GRCm39) |
R112C |
probably damaging |
Het |
| Fam178b |
A |
T |
1: 36,639,606 (GRCm39) |
D293E |
probably benign |
Het |
| Fbxl21 |
G |
A |
13: 56,674,873 (GRCm39) |
V49I |
probably damaging |
Het |
| Fyco1 |
A |
G |
9: 123,667,953 (GRCm39) |
V91A |
probably damaging |
Het |
| H2-M10.4 |
T |
C |
17: 36,772,736 (GRCm39) |
E82G |
probably damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,439,531 (GRCm39) |
I5434T |
probably damaging |
Het |
| Hormad1 |
T |
C |
3: 95,492,452 (GRCm39) |
V343A |
probably benign |
Het |
| Incenp |
T |
C |
19: 9,861,303 (GRCm39) |
N450S |
unknown |
Het |
| Iqsec3 |
T |
C |
6: 121,356,977 (GRCm39) |
K1035E |
possibly damaging |
Het |
| Ltn1 |
A |
T |
16: 87,223,174 (GRCm39) |
V102D |
probably damaging |
Het |
| Mcur1 |
T |
C |
13: 43,698,016 (GRCm39) |
T295A |
probably damaging |
Het |
| Pals1 |
A |
T |
12: 78,871,611 (GRCm39) |
D397V |
possibly damaging |
Het |
| Pcdha3 |
T |
C |
18: 37,081,013 (GRCm39) |
V585A |
probably damaging |
Het |
| Plcd4 |
A |
G |
1: 74,602,627 (GRCm39) |
T594A |
probably damaging |
Het |
| Ppp1r3c |
T |
C |
19: 36,711,522 (GRCm39) |
K83E |
probably damaging |
Het |
| Sesn3 |
C |
A |
9: 14,233,954 (GRCm39) |
T309K |
probably benign |
Het |
| Slc38a3 |
T |
C |
9: 107,533,405 (GRCm39) |
N251S |
probably benign |
Het |
| Sptbn4 |
A |
G |
7: 27,067,127 (GRCm39) |
V614A |
probably damaging |
Het |
| Srsf4 |
A |
G |
4: 131,601,175 (GRCm39) |
K34R |
probably damaging |
Het |
| Tfpi2 |
T |
C |
6: 3,968,044 (GRCm39) |
N32S |
possibly damaging |
Het |
| Ttll2 |
A |
T |
17: 7,619,120 (GRCm39) |
I269N |
probably benign |
Het |
| Utp3 |
T |
C |
5: 88,703,458 (GRCm39) |
V329A |
probably benign |
Het |
| Vmn2r102 |
A |
G |
17: 19,914,975 (GRCm39) |
T847A |
probably benign |
Het |
| Vmn2r70 |
A |
T |
7: 85,214,541 (GRCm39) |
W204R |
probably damaging |
Het |
| Xrcc3 |
A |
G |
12: 111,770,966 (GRCm39) |
L321P |
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 |
|
R3237:Cd4
|
UTSW |
6 |
124,844,633 (GRCm39) |
missense |
probably benign |
0.37 |
|
R3706:Cd4
|
UTSW |
6 |
124,856,351 (GRCm39) |
missense |
probably benign |
|
|
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'- AGTGTCCCTTTGTCCAGAGTC -3'
(R):5'- TAGATGGTCCTGTGCCACAC -3'
Sequencing Primer
(F):5'- CCTTTGTCCAGAGTCAGAGTCAG -3'
(R):5'- GTCCTGTGCCACACGCTTG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation