Mutagenetix > Incidental Mutation

Incidental Mutation 'R1769:Cd4'

194688

Institutional Source

Beutler Lab

Gene Symbol

Cd4

Ensembl Gene

ENSMUSG00000023274

Gene Name

CD4 antigen

Synonyms

L3T4, Ly-4

MMRRC Submission

039800-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1769 (G1)

Quality Score

140

Status

Validated

Chromosome

Chromosomal Location

124864692-124888221 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 124866655 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 431 (M431K)

Ref Sequence

ENSEMBL: ENSMUSP00000024044 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024044] [ENSMUST00000046893] [ENSMUST00000204667]

AlphaFold

P06332

Predicted Effect

possibly damaging
Transcript: ENSMUST00000024044
AA Change: M431K

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000024044
Gene: ENSMUSG00000023274
AA Change: M431K

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

probably benign
Transcript: ENSMUST00000046893

SMART Domains

Protein: ENSMUSP00000038536
Gene: ENSMUSG00000038390

Domain	Start	End	E-Value	Type
Pfam:7tm_1	30	337	1.1e-19	PFAM
low complexity region	348	362	N/A	INTRINSIC
low complexity region	462	477	N/A	INTRINSIC
low complexity region	482	504	N/A	INTRINSIC
low complexity region	513	540	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145818

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145977

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151594

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204161

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204253

Predicted Effect

probably benign
Transcript: ENSMUST00000204667

SMART Domains

Protein: ENSMUSP00000145267
Gene: ENSMUSG00000038390

Domain	Start	End	E-Value	Type
Pfam:7tm_1	30	337	1.1e-19	PFAM
low complexity region	348	362	N/A	INTRINSIC
low complexity region	462	477	N/A	INTRINSIC
low complexity region	482	504	N/A	INTRINSIC
low complexity region	513	540	N/A	INTRINSIC

Meta Mutation Damage Score

0.0811

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.5%

Validation Efficiency

100% (91/91)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921507P07Rik	A	G	6: 50,591,821 (GRCm38)		probably benign	Het
A430033K04Rik	A	G	5: 138,646,257 (GRCm38)	I135V	probably benign	Het
Abca1	T	A	4: 53,074,325 (GRCm38)	K1119N	probably damaging	Het
Abcb10	C	T	8: 123,962,052 (GRCm38)	G495D	probably damaging	Het
Abcc9	T	C	6: 142,627,468 (GRCm38)		probably benign	Het
Akap3	A	G	6: 126,865,846 (GRCm38)	E476G	possibly damaging	Het
Aldh3b1	A	G	19: 3,918,740 (GRCm38)	F271S	probably damaging	Het
Alkbh2	C	T	5: 114,124,226 (GRCm38)	E148K	probably damaging	Het
Ascc3	T	C	10: 50,700,490 (GRCm38)	V847A	probably damaging	Het
Best3	A	G	10: 117,023,978 (GRCm38)	N381S	probably benign	Het
Blm	A	T	7: 80,513,370 (GRCm38)	S78T	probably benign	Het
Bmpr2	T	A	1: 59,868,361 (GRCm38)	L871Q	probably damaging	Het
Car13	T	A	3: 14,650,735 (GRCm38)	H104Q	probably benign	Het
Ccdc39	T	C	3: 33,826,480 (GRCm38)	K446R	probably damaging	Het
Ccnb1ip1	T	C	14: 50,792,111 (GRCm38)	M165V	probably benign	Het
Cdh7	C	T	1: 110,052,876 (GRCm38)	T178I	probably damaging	Het
Ceacam3	C	T	7: 17,158,376 (GRCm38)	T348I	probably damaging	Het
Cfap54	C	T	10: 92,904,263 (GRCm38)		probably null	Het
Clcn6	A	T	4: 148,014,301 (GRCm38)		probably null	Het
Csf3	A	G	11: 98,702,420 (GRCm38)	Y121C	probably damaging	Het
Csmd3	C	T	15: 47,704,109 (GRCm38)		probably benign	Het
Cyp2c69	A	G	19: 39,876,371 (GRCm38)	I221T	probably benign	Het
Dgcr2	T	C	16: 17,857,251 (GRCm38)		probably benign	Het
Dhcr7	T	C	7: 143,847,513 (GRCm38)	F474S	probably damaging	Het
Dnah1	T	C	14: 31,310,882 (GRCm38)	I399V	probably null	Het
Efcab14	T	A	4: 115,752,991 (GRCm38)	L183Q	probably damaging	Het
Elmsan1	G	A	12: 84,158,350 (GRCm38)		probably benign	Het
Evx2	A	G	2: 74,659,157 (GRCm38)	V88A	probably benign	Het
Exph5	A	G	9: 53,373,809 (GRCm38)	N730S	probably benign	Het
Farsb	T	A	1: 78,466,983 (GRCm38)	K196I	probably benign	Het
Fbln7	C	T	2: 128,893,762 (GRCm38)		probably benign	Het
Fhdc1	A	G	3: 84,448,778 (GRCm38)	F453S	probably damaging	Het
Gast	T	A	11: 100,336,858 (GRCm38)	W89R	probably damaging	Het
Gata2	A	G	6: 88,205,255 (GRCm38)	S402G	probably benign	Het
Gin1	T	A	1: 97,792,437 (GRCm38)	S386T	probably benign	Het
Golgb1	A	G	16: 36,916,001 (GRCm38)	E1870G	probably damaging	Het
Hivep3	T	A	4: 120,097,571 (GRCm38)	V1028E	possibly damaging	Het
Ifi203	G	A	1: 173,928,760 (GRCm38)	R486*	probably null	Het
Ifi209	G	A	1: 173,641,162 (GRCm38)	S186N	probably benign	Het
Ifih1	C	T	2: 62,606,394 (GRCm38)	A562T	probably damaging	Het
Itch	T	C	2: 155,172,561 (GRCm38)	L106S	probably damaging	Het
Itga4	T	A	2: 79,315,706 (GRCm38)		probably null	Het
Kdm4c	A	G	4: 74,280,997 (GRCm38)	S141G	possibly damaging	Het
Kirrel	C	T	3: 87,089,151 (GRCm38)	M380I	probably null	Het
Klra3	T	C	6: 130,330,263 (GRCm38)		probably null	Het
Lama2	A	T	10: 27,208,406 (GRCm38)	S923T	probably damaging	Het
Lama2	G	C	10: 27,208,407 (GRCm38)	F922L	probably benign	Het
Llgl1	G	A	11: 60,707,047 (GRCm38)	V331M	probably damaging	Het
Lrrc30	T	C	17: 67,631,681 (GRCm38)	*301W	probably null	Het
Map1lc3b	C	T	8: 121,593,487 (GRCm38)		probably benign	Het
Mbd2	A	G	18: 70,616,619 (GRCm38)	I302V	probably benign	Het
Med27	A	G	2: 29,500,295 (GRCm38)	Y78C	probably damaging	Het
Mei1	C	T	15: 82,112,570 (GRCm38)		probably null	Het
Miga1	T	C	3: 152,287,554 (GRCm38)	E346G	probably damaging	Het
Myef2	A	G	2: 125,115,443 (GRCm38)	S131P	probably damaging	Het
Myocd	T	C	11: 65,178,701 (GRCm38)	H899R	probably benign	Het
Ncam1	A	G	9: 49,545,256 (GRCm38)		probably benign	Het
Ngf	T	A	3: 102,520,197 (GRCm38)	N87K	possibly damaging	Het
Nol10	T	A	12: 17,416,708 (GRCm38)		probably benign	Het
Nrip2	A	G	6: 128,408,268 (GRCm38)	I221V	probably benign	Het
Nup205	G	A	6: 35,205,431 (GRCm38)	G777D	probably damaging	Het
Olfr1446	A	G	19: 12,889,683 (GRCm38)	V298A	probably damaging	Het
Olfr199	A	G	16: 59,215,981 (GRCm38)	F211L	probably benign	Het
Olfr802	T	A	10: 129,682,212 (GRCm38)	T176S	probably benign	Het
Olfr855	A	T	9: 19,585,386 (GRCm38)	Q283L	probably damaging	Het
Olfr974	G	T	9: 39,942,955 (GRCm38)	D232Y	probably benign	Het
Oxt	A	T	2: 130,576,300 (GRCm38)	R31W	probably damaging	Het
Pde4dip	A	G	3: 97,695,930 (GRCm38)	S2248P	probably benign	Het
Pias1	A	G	9: 62,952,178 (GRCm38)	V16A	probably damaging	Het
Pkp2	T	C	16: 16,262,697 (GRCm38)	S616P	probably damaging	Het
Plch2	T	C	4: 155,000,083 (GRCm38)	Y379C	probably damaging	Het
Pnpt1	A	G	11: 29,154,159 (GRCm38)	N540D	probably benign	Het
Ptpn23	G	A	9: 110,391,678 (GRCm38)	H255Y	possibly damaging	Het
Rad21	T	C	15: 51,972,307 (GRCm38)	N237D	probably benign	Het
Ryr3	A	C	2: 112,751,768 (GRCm38)		probably null	Het
Sgk1	C	A	10: 21,997,108 (GRCm38)		probably benign	Het
Slc1a5	G	T	7: 16,797,539 (GRCm38)	A490S	probably damaging	Het
Slc5a8	T	A	10: 88,919,466 (GRCm38)	Y478*	probably null	Het
Slc5a8	T	C	10: 88,919,464 (GRCm38)	Y478H	probably benign	Het
Slc9a3	A	T	13: 74,163,071 (GRCm38)	M562L	probably benign	Het
Thsd7a	G	A	6: 12,555,715 (GRCm38)	R57*	probably null	Het
Tiam1	T	C	16: 89,860,279 (GRCm38)	R690G	probably damaging	Het
Tmem150b	A	G	7: 4,724,366 (GRCm38)	S47P	probably damaging	Het
Trim39	C	T	17: 36,263,940 (GRCm38)	R190Q	probably damaging	Het
Ttc32	A	T	12: 9,035,073 (GRCm38)	I98L	possibly damaging	Het
Vps13c	A	G	9: 67,965,721 (GRCm38)	T3304A	probably benign	Het
Wdr35	A	C	12: 9,012,728 (GRCm38)	D638A	probably damaging	Het
Wwc1	G	T	11: 35,861,844 (GRCm38)	P797T	probably benign	Het
Zan	T	A	5: 137,464,518 (GRCm38)	T800S	unknown	Het
Zbbx	A	G	3: 75,083,619 (GRCm38)		probably benign	Het
Zufsp	T	C	10: 33,935,176 (GRCm38)	M291V	probably damaging	Het

Other mutations in Cd4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
maat	APN	6	124,866,684 (GRCm38)	unclassified	probably benign
seshat	APN	6	124,872,977 (GRCm38)	missense	possibly damaging	0.81
thoth	APN	6	124,873,140 (GRCm38)	splice site	probably benign
IGL00783:Cd4	APN	6	124,872,989 (GRCm38)	missense	possibly damaging	0.81
IGL00784:Cd4	APN	6	124,872,989 (GRCm38)	missense	possibly damaging	0.81
IGL01294:Cd4	APN	6	124,879,378 (GRCm38)	missense	probably benign	0.41
IGL01295:Cd4	APN	6	124,879,378 (GRCm38)	missense	probably benign	0.41
IGL01296:Cd4	APN	6	124,879,378 (GRCm38)	missense	probably benign	0.41
IGL01298:Cd4	APN	6	124,879,378 (GRCm38)	missense	probably benign	0.41
IGL01299:Cd4	APN	6	124,879,378 (GRCm38)	missense	probably benign	0.41
IGL01397:Cd4	APN	6	124,879,378 (GRCm38)	missense	probably benign	0.41
IGL01401:Cd4	APN	6	124,879,378 (GRCm38)	missense	probably benign	0.41
IGL01402:Cd4	APN	6	124,879,378 (GRCm38)	missense	probably benign	0.41
IGL01407:Cd4	APN	6	124,879,378 (GRCm38)	missense	probably benign	0.41
craw	UTSW	6	124,867,746 (GRCm38)	nonsense	probably null
Doubles	UTSW	6	124,872,458 (GRCm38)	missense	probably benign	0.01
fourless	UTSW	6	124,870,244 (GRCm38)	critical splice donor site	probably null
R0152:Cd4	UTSW	6	124,867,746 (GRCm38)	nonsense	probably null
R0196:Cd4	UTSW	6	124,867,806 (GRCm38)	missense	probably damaging	0.97
R1992:Cd4	UTSW	6	124,867,688 (GRCm38)	missense	possibly damaging	0.59
R2126:Cd4	UTSW	6	124,870,536 (GRCm38)	missense	probably benign	0.01
R3237:Cd4	UTSW	6	124,867,670 (GRCm38)	missense	probably benign	0.37
R3706:Cd4	UTSW	6	124,879,388 (GRCm38)	missense	probably benign
R4535:Cd4	UTSW	6	124,870,451 (GRCm38)	missense	probably benign	0.01
R5026:Cd4	UTSW	6	124,866,620 (GRCm38)	missense	possibly damaging	0.95
R5084:Cd4	UTSW	6	124,870,439 (GRCm38)	missense	probably damaging	1.00
R6628:Cd4	UTSW	6	124,879,468 (GRCm38)	missense	unknown
R6772:Cd4	UTSW	6	124,872,458 (GRCm38)	missense	probably benign	0.01
R7038:Cd4	UTSW	6	124,870,254 (GRCm38)	missense	probably damaging	0.98
R7083:Cd4	UTSW	6	124,870,572 (GRCm38)	missense	probably benign	0.16
R7313:Cd4	UTSW	6	124,867,103 (GRCm38)	missense	probably benign	0.15
R7394:Cd4	UTSW	6	124,873,041 (GRCm38)	missense	probably benign	0.00
R7943:Cd4	UTSW	6	124,870,244 (GRCm38)	critical splice donor site	probably null
R9187:Cd4	UTSW	6	124,867,688 (GRCm38)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGGCAGCGTGTCTGCTACATTC -3'
(R):5'- GCAACCGGCTTCTGGTTTAGCTTTC -3'

Sequencing Primer
(F):5'- tcccttcctcactctctcc -3'
(R):5'- TGAAGTCCCTCACTGTAGACC -3'

Posted On

2014-05-23