Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01298:Cd4'

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

Genbank: NM_013488; MGI: 88335

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01298

Quality Score

Status

Chromosome

Chromosomal Location

124864692-124888221 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 124879378 bp

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]

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	W263C	probably damaging	Het
Agtpbp1	G	A	13: 59,504,226	H424Y	possibly damaging	Het
Angpt2	T	G	8: 18,710,528	N186T	probably benign	Het
Ank2	A	G	3: 126,959,720	V304A	possibly damaging	Het
Atg3	T	C	16: 45,171,673	M88T	possibly damaging	Het
Baz1a	G	T	12: 54,954,809	P142Q	probably damaging	Het
Btbd1	G	T	7: 81,794,307		probably null	Het
Cacnb3	T	C	15: 98,639,853	Y70H	probably damaging	Het
Cyp7a1	A	T	4: 6,275,517	W19R	probably damaging	Het
Dock10	T	A	1: 80,531,245	I1610F	probably damaging	Het
Gm11444	C	A	11: 85,848,094	D58Y	unknown	Het
Gm7168	A	T	17: 13,949,858	T496S	probably benign	Het
Gpc5	A	G	14: 115,399,188	S428G	probably benign	Het
Haus8	T	C	8: 71,253,113	E309G	probably damaging	Het
Ice1	A	G	13: 70,604,904	L1021P	possibly damaging	Het
Krtap14	A	T	16: 88,825,727	H121Q	probably benign	Het
Nwd1	T	C	8: 72,662,331	V170A	probably benign	Het
Olfr338	T	A	2: 36,377,448	M224K	probably benign	Het
Olfr803	T	C	10: 129,692,029	Y4C	probably damaging	Het
Olfr938	G	A	9: 39,078,724	T7I	possibly damaging	Het
Pfpl	T	C	19: 12,428,673	M96T	possibly damaging	Het
Pramel5	A	G	4: 144,271,162		probably benign	Het
Proc	T	C	18: 32,123,552	N354S	probably benign	Het
Prss40	T	G	1: 34,560,766	I47L	probably benign	Het
Tmprss7	T	C	16: 45,664,175	R541G	probably benign	Het
Togaram2	T	C	17: 71,716,513	V788A	possibly damaging	Het
Trbv19	T	C	6: 41,178,904	Y70H	probably damaging	Het
Ttk	C	T	9: 83,865,142	S678L	probably benign	Het
Vmn2r85	T	C	10: 130,418,821	T665A	probably benign	Het

Other mutations in Cd4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
maat	APN	6	124866684	unclassified	probably benign
seshat	APN	6	124872977	missense	possibly damaging	0.81
thoth	APN	6	124873140	splice site	probably benign
IGL00783:Cd4	APN	6	124872989	missense	possibly damaging	0.81
IGL00784:Cd4	APN	6	124872989	missense	possibly damaging	0.81
IGL01294:Cd4	APN	6	124879378	missense	probably benign	0.41
IGL01295:Cd4	APN	6	124879378	missense	probably benign	0.41
IGL01296:Cd4	APN	6	124879378	missense	probably benign	0.41
IGL01299:Cd4	APN	6	124879378	missense	probably benign	0.41
IGL01397:Cd4	APN	6	124879378	missense	probably benign	0.41
IGL01401:Cd4	APN	6	124879378	missense	probably benign	0.41
IGL01402:Cd4	APN	6	124879378	missense	probably benign	0.41
IGL01407:Cd4	APN	6	124879378	missense	probably benign	0.41
craw	UTSW	6	124867746	nonsense	probably null
Doubles	UTSW	6	124872458	missense	probably benign	0.01
fourless	UTSW	6	124870244	critical splice donor site	probably null
R0152:Cd4	UTSW	6	124867746	nonsense	probably null
R0196:Cd4	UTSW	6	124867806	missense	probably damaging	0.97
R1769:Cd4	UTSW	6	124866655	missense	possibly damaging	0.71
R1992:Cd4	UTSW	6	124867688	missense	possibly damaging	0.59
R2126:Cd4	UTSW	6	124870536	missense	probably benign	0.01
R3237:Cd4	UTSW	6	124867670	missense	probably benign	0.37
R3706:Cd4	UTSW	6	124879388	missense	probably benign
R4535:Cd4	UTSW	6	124870451	missense	probably benign	0.01
R5026:Cd4	UTSW	6	124866620	missense	possibly damaging	0.95
R5084:Cd4	UTSW	6	124870439	missense	probably damaging	1.00
R6628:Cd4	UTSW	6	124879468	missense	unknown
R6772:Cd4	UTSW	6	124872458	missense	probably benign	0.01
R7038:Cd4	UTSW	6	124870254	missense	probably damaging	0.98
R7083:Cd4	UTSW	6	124870572	missense	probably benign	0.16
R7313:Cd4	UTSW	6	124867103	missense	probably benign	0.15
R7394:Cd4	UTSW	6	124873041	missense	probably benign	0.00
R7943:Cd4	UTSW	6	124870244	critical splice donor site	probably null

Posted On

2015-04-16