Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01296:Cd4'

278257

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 #

IGL01296

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadl	A	G	1: 66,841,705	S301P	probably damaging	Het
Adam34	A	G	8: 43,651,141	V489A	possibly damaging	Het
Adcy8	G	A	15: 64,783,779	T617I	probably damaging	Het
Aggf1	T	C	13: 95,353,971	D605G	probably damaging	Het
Atp10a	T	A	7: 58,813,625	F969I	probably benign	Het
Becn1	A	T	11: 101,291,451	N97K	probably damaging	Het
Crtac1	A	T	19: 42,284,213	C578S	probably damaging	Het
Dcp1b	A	G	6: 119,215,358	K412E	probably damaging	Het
Dlg2	T	A	7: 91,940,059	I327N	probably damaging	Het
Ehf	T	A	2: 103,268,155		probably null	Het
Elavl4	T	C	4: 110,206,612	N264S	probably benign	Het
Enpp2	A	T	15: 54,875,669	I406N	probably damaging	Het
F10	A	T	8: 13,055,383	Y316F	possibly damaging	Het
Fam20a	A	G	11: 109,685,351	I194T	possibly damaging	Het
Fcgbp	T	C	7: 28,089,647	V546A	probably benign	Het
Fras1	A	T	5: 96,673,698	Q1438L	probably null	Het
Gm43638	T	C	5: 87,460,592	I463V	probably benign	Het
Gm597	T	C	1: 28,777,056	I632V	probably benign	Het
H2-T10	T	C	17: 36,120,710	D84G	probably benign	Het
Itpr1	T	C	6: 108,399,361	F1262L	probably damaging	Het
Lama1	A	G	17: 67,745,051	N335D	probably benign	Het
Lasp1	T	C	11: 97,836,190	V246A	probably damaging	Het
Lrrk2	A	T	15: 91,683,142	I135L	probably benign	Het
Malrd1	G	A	2: 16,101,957		probably null	Het
Mctp2	T	C	7: 72,228,526	K268R	probably benign	Het
Nbea	A	T	3: 56,031,536	H710Q	probably benign	Het
Notch3	G	A	17: 32,166,757	R13C	unknown	Het
Ogfod1	A	T	8: 94,055,671		probably benign	Het
Olfr1465	A	G	19: 13,314,126	L53P	probably damaging	Het
Olfr339	A	G	2: 36,421,704	Y102C	probably benign	Het
Olfr924	T	C	9: 38,848,252	I46T	probably damaging	Het
Pgm3	A	G	9: 86,561,879	V324A	probably damaging	Het
Ppfia2	A	T	10: 106,858,207	I681F	probably damaging	Het
Prss23	T	C	7: 89,509,887	K325E	possibly damaging	Het
Psmd7	T	A	8: 107,586,617		probably benign	Het
Rfx2	T	A	17: 56,808,317	M1L	possibly damaging	Het
Rpa1	T	C	11: 75,312,315	Y418C	probably damaging	Het
Rps6kc1	C	T	1: 190,773,678	R1029H	probably damaging	Het
Sept10	A	G	10: 59,166,600	V391A	probably benign	Het
Skint6	A	G	4: 113,236,440	F169L	probably benign	Het
Slc44a4	C	T	17: 34,921,698	T289I	probably benign	Het
Srl	T	C	16: 4,497,682	D32G	probably damaging	Het
Stxbp3-ps	T	A	19: 9,557,892		noncoding transcript	Het
Sult1b1	T	C	5: 87,514,956	D295G	probably benign	Het
Tmprss7	A	G	16: 45,684,574	V151A	probably damaging	Het
Trmo	A	G	4: 46,387,589	L84P	probably damaging	Het
Vmn2r98	T	A	17: 19,065,185	I89N	probably damaging	Het
Zcwpw1	G	A	5: 137,796,799	A86T	probably benign	Het
Zkscan16	A	G	4: 58,956,690	H324R	possibly damaging	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
IGL01298: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