Mutagenetix > Incidental Mutation

Incidental Mutation 'R5084:Cd4'

387302

Institutional Source

Beutler Lab

Gene Symbol

Cd4

Ensembl Gene

ENSMUSG00000023274

Gene Name

CD4 antigen

Synonyms

Ly-4, L3T4

MMRRC Submission

042673-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5084 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

124841655-124865184 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 124847402 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 254 (I254N)

Ref Sequence

ENSEMBL: ENSMUSP00000024044 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024044]

AlphaFold

P06332

Predicted Effect

probably damaging
Transcript: ENSMUST00000024044
AA Change: I254N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000024044
Gene: ENSMUSG00000023274
AA Change: I254N

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: 99.1%
3x: 98.4%
10x: 96.3%
20x: 92.4%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp3	T	A	9: 104,204,116 (GRCm39)	E59D	probably damaging	Het
Akap7	T	A	10: 25,155,640 (GRCm39)		probably benign	Het
Anpep	C	A	7: 79,476,618 (GRCm39)		probably null	Het
Aste1	T	A	9: 105,274,886 (GRCm39)	Y314*	probably null	Het
Ccdc183	G	A	2: 25,498,802 (GRCm39)	T497I	probably damaging	Het
Crot	G	T	5: 9,019,994 (GRCm39)	H449Q	probably damaging	Het
Dact2	A	T	17: 14,418,214 (GRCm39)	W164R	possibly damaging	Het
Dapk3	C	A	10: 81,026,152 (GRCm39)		probably null	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Fbrsl1	G	A	5: 110,527,272 (GRCm39)		probably benign	Het
Flg	T	C	3: 93,184,922 (GRCm39)	F15L	probably damaging	Het
Fscn2	A	G	11: 120,252,686 (GRCm39)	D51G	probably damaging	Het
H2-Ob	G	T	17: 34,460,102 (GRCm39)	G71V	probably damaging	Het
Hmgcs1	T	C	13: 120,161,520 (GRCm39)	V104A	possibly damaging	Het
Hs3st4	G	T	7: 123,996,518 (GRCm39)	D395Y	probably damaging	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Ldlrad3	G	A	2: 101,900,329 (GRCm39)	R58C	probably damaging	Het
Lpin1	A	G	12: 16,626,983 (GRCm39)	S188P	probably damaging	Het
Mamdc2	G	T	19: 23,336,516 (GRCm39)	T331K	possibly damaging	Het
Matr3	G	A	18: 35,715,135 (GRCm39)	S195N	probably damaging	Het
Nktr	T	C	9: 121,577,176 (GRCm39)	Y390H	possibly damaging	Het
Notch3	C	T	17: 32,376,864 (GRCm39)		probably null	Het
Olfm3	T	C	3: 114,698,202 (GRCm39)		probably null	Het
Or10ak11	A	G	4: 118,686,767 (GRCm39)	V290A	probably damaging	Het
Or2a20	T	C	6: 43,194,594 (GRCm39)	L249P	probably damaging	Het
Or5h25	C	T	16: 58,930,436 (GRCm39)	C179Y	possibly damaging	Het
Or7e173	T	A	9: 19,938,551 (GRCm39)	I228F	probably damaging	Het
Or7g17	T	A	9: 18,768,632 (GRCm39)	M237K	probably benign	Het
Pask	A	G	1: 93,249,819 (GRCm39)	V527A	probably benign	Het
Pcdha6	A	T	18: 37,102,016 (GRCm39)	N403I	probably damaging	Het
Peg3	T	C	7: 6,710,848 (GRCm39)	E1458G	probably damaging	Het
Pip4k2b	G	A	11: 97,610,569 (GRCm39)	T386M	probably damaging	Het
Pkd1l1	T	C	11: 8,892,004 (GRCm39)	M272V	probably benign	Het
Plcb4	A	G	2: 135,844,571 (GRCm39)	E163G	probably damaging	Het
Plk5	C	A	10: 80,194,723 (GRCm39)	R149S	possibly damaging	Het
Pou4f3	A	T	18: 42,528,933 (GRCm39)	Y292F	probably damaging	Het
Rasgef1c	A	G	11: 49,860,332 (GRCm39)	K272E	probably damaging	Het
Rbl2	C	T	8: 91,841,759 (GRCm39)	T942M	probably benign	Het
Sipa1l3	G	A	7: 29,048,000 (GRCm39)	S247F	probably damaging	Het
Smarca4	T	C	9: 21,572,059 (GRCm39)	L777P	probably damaging	Het
Smpd1	T	C	7: 105,206,185 (GRCm39)	Y438H	probably damaging	Het
Sorl1	T	C	9: 41,887,673 (GRCm39)	K2052R	probably benign	Het
Spata31d1c	C	A	13: 65,182,944 (GRCm39)	P162Q	probably damaging	Het
Spmip9	A	G	6: 70,892,688 (GRCm39)	S20P	possibly damaging	Het
Ston1	A	T	17: 88,944,002 (GRCm39)	E469D	probably benign	Het
Syde2	AGTTC	AGTTCGTTC	3: 145,707,164 (GRCm39)		probably null	Het
Syde2	CAGTT	CAGTTAGTT	3: 145,707,163 (GRCm39)		probably null	Het
Taar5	T	A	10: 23,846,836 (GRCm39)	L78Q	probably damaging	Het
Tas2r114	A	T	6: 131,666,251 (GRCm39)	L259*	probably null	Het
Topaz1	T	A	9: 122,577,883 (GRCm39)	H264Q	probably benign	Het
Vcl	G	T	14: 21,059,027 (GRCm39)	V548L	possibly damaging	Het
Vmn2r57	C	A	7: 41,075,974 (GRCm39)		probably null	Het
Vmn2r92	A	G	17: 18,405,439 (GRCm39)	*861W	probably null	Het
Ylpm1	T	G	12: 85,076,095 (GRCm39)	V940G	probably damaging	Het
Zfp236	A	G	18: 82,627,556 (GRCm39)	S1500P	probably damaging	Het
Zfp384	G	T	6: 125,000,642 (GRCm39)		probably benign	Het
Zfp786	T	C	6: 47,796,953 (GRCm39)	M662V	probably benign	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
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'- ACTTCCTGATGCAGTGTCC -3'
(R):5'- TAGATGGTCCTGTGCCACAC -3'

Sequencing Primer
(F):5'- CCTTTGTCCAGAGTCAGAGTCAG -3'
(R):5'- GTCCTGTGCCACACGCTTG -3'

Posted On

2016-06-06