Mutagenetix > Incidental Mutation

Incidental Mutation 'R7083:Cd4'

549670

Institutional Source

Beutler Lab

Gene Symbol

Cd4

Ensembl Gene

ENSMUSG00000023274

Gene Name

CD4 antigen

Synonyms

Ly-4, L3T4

MMRRC Submission

045177-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7083 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

124841655-124865184 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 124847535 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 210 (S210R)

Ref Sequence

ENSEMBL: ENSMUSP00000024044 (fasta)

Gene Model

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

AlphaFold

P06332

Predicted Effect

probably benign
Transcript: ENSMUST00000024044
AA Change: S210R

PolyPhen 2 Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000024044
Gene: ENSMUSG00000023274
AA Change: S210R

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam21	A	T	12: 81,607,015 (GRCm39)	M249K	possibly damaging	Het
Arhgef38	T	A	3: 132,838,197 (GRCm39)	Q613L	unknown	Het
Arpp21	A	G	9: 112,012,612 (GRCm39)	V70A	probably benign	Het
AW551984	T	C	9: 39,508,943 (GRCm39)	N327S	probably damaging	Het
Bnc1	T	C	7: 81,623,058 (GRCm39)	K723R	probably damaging	Het
Btbd7	A	G	12: 102,754,594 (GRCm39)	L724P	probably damaging	Het
Btnl10	G	T	11: 58,809,963 (GRCm39)	V35F	probably damaging	Het
Cd22	T	A	7: 30,567,473 (GRCm39)	T704S	probably damaging	Het
Cped1	A	G	6: 22,123,579 (GRCm39)	Q444R	probably benign	Het
Dusp26	A	G	8: 31,581,747 (GRCm39)		probably benign	Het
Dync1i1	C	T	6: 5,969,429 (GRCm39)	A418V	probably damaging	Het
Fibp	A	G	19: 5,513,659 (GRCm39)	D232G	probably damaging	Het
Frem2	T	A	3: 53,444,914 (GRCm39)	T2406S	probably damaging	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,450 (GRCm39)		probably benign	Het
Gpr39	T	A	1: 125,605,155 (GRCm39)	W28R	probably damaging	Het
Greb1	A	G	12: 16,773,315 (GRCm39)	V253A	probably benign	Het
Hexim1	T	G	11: 103,007,992 (GRCm39)	L82W	possibly damaging	Het
Hmga1	G	T	17: 27,779,945 (GRCm39)	R49L	possibly damaging	Het
Irag2	A	T	6: 145,115,509 (GRCm39)	N349I	probably damaging	Het
Itch	A	T	2: 155,052,364 (GRCm39)	N655Y	probably damaging	Het
Izumo2	A	G	7: 44,359,757 (GRCm39)	E129G	probably damaging	Het
Klk1b24	G	A	7: 43,841,225 (GRCm39)	C186Y	probably damaging	Het
Lnx1	G	A	5: 74,788,846 (GRCm39)	S31F	possibly damaging	Het
Lrrc37a	T	C	11: 103,394,166 (GRCm39)	I420V	probably benign	Het
Ltk	A	C	2: 119,582,555 (GRCm39)	C776G	probably damaging	Het
Mast4	A	C	13: 102,874,223 (GRCm39)	L1715R	probably damaging	Het
Med28	T	C	5: 45,680,878 (GRCm39)		probably null	Het
Naf1	GCCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGA	GCCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGA	8: 67,313,138 (GRCm39)		probably benign	Het
Nckap1l	C	A	15: 103,390,551 (GRCm39)	T774K	probably damaging	Het
Nfkbiz	T	C	16: 55,638,663 (GRCm39)	K266E	possibly damaging	Het
Ntrk3	T	A	7: 77,900,587 (GRCm39)	D584V	probably damaging	Het
Or1o1	T	C	17: 37,717,063 (GRCm39)	V208A	probably benign	Het
Or2h15	T	A	17: 38,441,601 (GRCm39)	T161S	probably benign	Het
Or4c126	A	G	2: 89,824,201 (GRCm39)	I155V	probably benign	Het
Or4n4b	G	A	14: 50,536,736 (GRCm39)	T10I	possibly damaging	Het
Or5h25	T	C	16: 58,930,400 (GRCm39)	D191G	probably damaging	Het
Picalm	T	A	7: 89,825,976 (GRCm39)	I376K	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Prps1l3	A	T	12: 57,286,034 (GRCm39)	I275L	probably benign	Het
Psg26	G	A	7: 18,213,934 (GRCm39)	R243*	probably null	Het
Ranbp2	A	G	10: 58,315,052 (GRCm39)	H1924R	probably damaging	Het
Rasef	T	C	4: 73,709,221 (GRCm39)	D4G	probably benign	Het
Rttn	T	C	18: 89,108,722 (GRCm39)	L1642P	probably damaging	Het
Shroom3	T	C	5: 93,112,384 (GRCm39)	L1915P	probably damaging	Het
Slc26a10	A	G	10: 127,013,037 (GRCm39)	V319A	probably damaging	Het
Slc4a10	A	G	2: 62,064,839 (GRCm39)	N231S	probably benign	Het
Sox18	T	C	2: 181,312,165 (GRCm39)	Q322R	possibly damaging	Het
Sting1	T	C	18: 35,867,703 (GRCm39)	H331R	probably damaging	Het
Syde1	G	T	10: 78,422,903 (GRCm39)	P490T	probably benign	Het
Syne2	A	G	12: 75,990,662 (GRCm39)	I1881M	probably damaging	Het
Taf1c	T	C	8: 120,327,407 (GRCm39)	D387G	probably damaging	Het
Tenm4	T	A	7: 96,544,556 (GRCm39)	Y2228N	probably damaging	Het
Tubgcp5	C	T	7: 55,450,443 (GRCm39)	Q185*	probably null	Het
Vmn2r44	T	A	7: 8,381,369 (GRCm39)	I175F	probably benign	Het
Zdhhc7	C	A	8: 120,812,166 (GRCm39)	C152F	probably damaging	Het
Zfp52	T	A	17: 21,780,392 (GRCm39)	M80K	possibly damaging	Het
Zfp612	T	C	8: 110,815,768 (GRCm39)	I325T	probably damaging	Het
Zmiz1	T	G	14: 25,652,372 (GRCm39)	F597V	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
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
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
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'- AAGCGAGACCTGGGGTATCTTG -3'
(R):5'- AAACATCAAATAGCTGCTGGC -3'

Sequencing Primer
(F):5'- AGCGTTTCCTTCAGCTGGAG -3'
(R):5'- CCTCCAGGGGTCCCAGG -3'

Posted On

2019-05-15