Mutagenetix > Incidental Mutation

Incidental Mutation 'R0538:Cd53'

49553

Institutional Source

Beutler Lab

Gene Symbol

Cd53

Ensembl Gene

ENSMUSG00000040747

Gene Name

CD53 antigen

Synonyms

Tspan25, Ox-44

MMRRC Submission

038730-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.205) question?

Stock #

R0538 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106667237-106697465 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 106669444 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 185 (I185F)

Ref Sequence

ENSEMBL: ENSMUSP00000035781 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038845]

AlphaFold

Q61451

Predicted Effect

probably benign
Transcript: ENSMUST00000038845
AA Change: I185F

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000035781
Gene: ENSMUSG00000040747
AA Change: I185F

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	8	210	4.6e-54	PFAM

Meta Mutation Damage Score

0.1979

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.7%

Validation Efficiency

98% (126/129)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins. It contributes to the transduction of CD2-generated signals in T cells and natural killer cells and has been suggested to play a role in growth regulation. Familial deficiency of this gene has been linked to an immunodeficiency associated with recurrent infectious diseases caused by bacteria, fungi and viruses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
PHENOTYPE: B cells lacking this gene exhibit impaired PKC recruitment to the plasma membrane and phosphorylation of PKC substrates. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 129 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I07Rik	A	T	14: 67,175,823 (GRCm39)	H6L	unknown	Het
Abca13	G	A	11: 9,217,622 (GRCm39)		probably null	Het
Acad12	C	T	5: 121,745,511 (GRCm39)	R260Q	possibly damaging	Het
Actn1	G	A	12: 80,306,874 (GRCm39)		probably benign	Het
Acvrl1	A	G	15: 101,034,030 (GRCm39)	T182A	probably damaging	Het
Adam23	T	C	1: 63,607,003 (GRCm39)		probably benign	Het
Adamtsl1	A	T	4: 86,261,358 (GRCm39)	T1190S	probably benign	Het
Adh6b	A	T	3: 138,063,411 (GRCm39)	Y330F	probably benign	Het
Ak7	A	G	12: 105,732,876 (GRCm39)	E540G	probably damaging	Het
Akr1c19	T	A	13: 4,287,099 (GRCm39)	L106Q	probably damaging	Het
Ankrd12	A	T	17: 66,356,847 (GRCm39)	S57T	probably damaging	Het
Aoc3	G	A	11: 101,222,964 (GRCm39)	R400Q	possibly damaging	Het
Arel1	A	T	12: 84,988,611 (GRCm39)	I46N	probably damaging	Het
Armc5	A	G	7: 127,843,463 (GRCm39)	D752G	probably damaging	Het
Atp11b	T	C	3: 35,891,163 (GRCm39)	V812A	probably damaging	Het
Axin1	A	G	17: 26,403,215 (GRCm39)	H131R	possibly damaging	Het
Bpifb3	A	G	2: 153,765,789 (GRCm39)	E184G	probably benign	Het
Cacna2d2	T	C	9: 107,401,582 (GRCm39)		probably benign	Het
Catsperd	T	C	17: 56,969,828 (GRCm39)	F641L	probably benign	Het
Ccdc83	A	C	7: 89,877,591 (GRCm39)	L284V	probably damaging	Het
Ccn2	T	A	10: 24,472,364 (GRCm39)	C136S	probably damaging	Het
Ccnt2	T	A	1: 127,730,902 (GRCm39)	V593E	probably damaging	Het
Cep350	A	T	1: 155,724,366 (GRCm39)	D3077E	possibly damaging	Het
Ces1h	C	A	8: 94,083,628 (GRCm39)		probably null	Het
Chrna3	T	A	9: 54,923,290 (GRCm39)	T173S	probably benign	Het
Clca4b	T	C	3: 144,627,717 (GRCm39)	D418G	probably benign	Het
Col11a2	T	C	17: 34,270,302 (GRCm39)		probably benign	Het
Coq2	T	A	5: 100,815,889 (GRCm39)	I97F	possibly damaging	Het
Cr2	A	G	1: 194,842,667 (GRCm39)		probably benign	Het
D2hgdh	A	G	1: 93,754,099 (GRCm39)	Y24C	probably damaging	Het
D630045J12Rik	G	A	6: 38,168,628 (GRCm39)	R974C	probably damaging	Het
Dach1	A	G	14: 98,140,715 (GRCm39)	V429A	possibly damaging	Het
Ddr1	G	A	17: 35,995,899 (GRCm39)	T660I	probably damaging	Het
Dlg1	A	C	16: 31,615,682 (GRCm39)		probably null	Het
Dmbt1	T	C	7: 130,651,631 (GRCm39)		probably benign	Het
Dmxl2	A	T	9: 54,301,120 (GRCm39)	D2330E	probably benign	Het
Dnai4	T	C	4: 102,953,815 (GRCm39)	N128S	possibly damaging	Het
Doc2a	A	G	7: 126,447,983 (GRCm39)	T5A	probably benign	Het
Dock2	G	A	11: 34,595,545 (GRCm39)		probably benign	Het
Dok4	T	A	8: 95,591,866 (GRCm39)	Y290F	probably damaging	Het
Dop1a	A	G	9: 86,367,550 (GRCm39)	D11G	probably damaging	Het
E230025N22Rik	T	C	18: 36,821,987 (GRCm39)	H235R	probably benign	Het
Ear6	A	G	14: 52,091,909 (GRCm39)	D152G	probably damaging	Het
Ecscr	T	A	18: 35,846,689 (GRCm39)		probably benign	Het
Eml6	A	T	11: 29,710,010 (GRCm39)		probably benign	Het
Epha4	T	A	1: 77,365,178 (GRCm39)	Q607L	probably damaging	Het
Exoc4	A	G	6: 33,948,998 (GRCm39)	N947S	probably benign	Het
Flg	A	G	3: 93,186,767 (GRCm39)	E73G	probably damaging	Het
Fndc1	C	T	17: 8,003,173 (GRCm39)		probably benign	Het
Gad1-ps	T	C	10: 99,280,854 (GRCm39)		noncoding transcript	Het
Gata6	A	G	18: 11,064,771 (GRCm39)	T528A	probably benign	Het
Gjd4	T	C	18: 9,280,244 (GRCm39)	E278G	probably benign	Het
Gm20091	T	A	10: 96,244,864 (GRCm39)		noncoding transcript	Het
Gnb3	G	A	6: 124,812,659 (GRCm39)	Q266*	probably null	Het
Grm3	A	G	5: 9,562,446 (GRCm39)	V468A	possibly damaging	Het
Igf1r	C	T	7: 67,857,574 (GRCm39)	R1085C	probably damaging	Het
Igsf10	T	C	3: 59,227,527 (GRCm39)	T2049A	probably damaging	Het
Jak3	A	T	8: 72,138,126 (GRCm39)	D859V	probably benign	Het
Kcnb2	G	T	1: 15,783,108 (GRCm39)		probably benign	Het
Kcnh3	G	A	15: 99,138,839 (GRCm39)	G858D	probably benign	Het
Kif1a	C	A	1: 92,971,360 (GRCm39)	R1006L	probably damaging	Het
Klhl23	C	T	2: 69,654,757 (GRCm39)	A209V	probably benign	Het
Mapk13	T	C	17: 28,994,229 (GRCm39)	Y104H	probably damaging	Het
Mbd4	A	G	6: 115,826,443 (GRCm39)	S183P	probably damaging	Het
Mga	T	C	2: 119,750,187 (GRCm39)		probably null	Het
Mipol1	G	A	12: 57,461,197 (GRCm39)		probably null	Het
Mmp14	A	G	14: 54,676,166 (GRCm39)	T299A	possibly damaging	Het
Mmrn1	A	G	6: 60,953,453 (GRCm39)	E578G	probably benign	Het
Mov10l1	G	A	15: 88,879,063 (GRCm39)	C193Y	possibly damaging	Het
Mppe1	A	G	18: 67,370,548 (GRCm39)	C50R	probably damaging	Het
Msantd1	C	A	5: 35,075,069 (GRCm39)	R44S	probably damaging	Het
Myt1l	T	C	12: 29,892,570 (GRCm39)	V69A	possibly damaging	Het
Nav1	A	T	1: 135,392,430 (GRCm39)		probably benign	Het
Ncan	A	G	8: 70,561,252 (GRCm39)	S572P	possibly damaging	Het
Nck2	T	C	1: 43,608,304 (GRCm39)		probably benign	Het
Nemf	A	T	12: 69,403,088 (GRCm39)	D31E	probably damaging	Het
Nlrp12	T	C	7: 3,297,892 (GRCm39)	D93G	possibly damaging	Het
Nsmaf	A	T	4: 6,419,930 (GRCm39)		probably null	Het
Nup98	T	C	7: 101,835,892 (GRCm39)	T184A	probably damaging	Het
Oog2	C	A	4: 143,922,654 (GRCm39)	Y306*	probably null	Het
Or13a18	A	T	7: 140,190,297 (GRCm39)	N73Y	probably damaging	Het
Or6ae1	A	T	7: 139,742,144 (GRCm39)	S240T	probably damaging	Het
Or6b2b	A	T	1: 92,419,055 (GRCm39)	C141S	possibly damaging	Het
Osmr	A	G	15: 6,871,419 (GRCm39)		probably benign	Het
P2rx6	A	G	16: 17,386,162 (GRCm39)	N275S	probably benign	Het
Pbxip1	G	T	3: 89,354,926 (GRCm39)	G482W	possibly damaging	Het
Pcsk4	T	G	10: 80,161,168 (GRCm39)	I249L	probably damaging	Het
Pou4f2	C	T	8: 79,162,291 (GRCm39)	G104E	probably damaging	Het
Pramel28	T	A	4: 143,691,653 (GRCm39)	T357S	possibly damaging	Het
Prkdc	G	T	16: 15,651,652 (GRCm39)	R3763L	probably damaging	Het
Ptpre	A	T	7: 135,265,044 (GRCm39)	I207F	probably damaging	Het
Rapgef3	A	T	15: 97,655,698 (GRCm39)		probably benign	Het
Rasgrp1	T	G	2: 117,115,428 (GRCm39)	K685T	probably benign	Het
Rnf148	C	T	6: 23,654,237 (GRCm39)	R253Q	probably damaging	Het
Rock1	T	C	18: 10,132,227 (GRCm39)	I241V	possibly damaging	Het
Rp1l1	T	G	14: 64,259,541 (GRCm39)	V61G	probably damaging	Het
Scin	A	C	12: 40,131,770 (GRCm39)	S255A	probably damaging	Het
Scn8a	A	T	15: 100,933,505 (GRCm39)	K1570*	probably null	Het
Sec14l4	A	C	11: 3,990,018 (GRCm39)	M106L	probably benign	Het
Sec63	G	A	10: 42,674,795 (GRCm39)	R226H	probably benign	Het
Septin2	T	A	1: 93,429,345 (GRCm39)	N271K	probably damaging	Het
Serac1	G	T	17: 6,099,101 (GRCm39)		probably benign	Het
Shc2	T	A	10: 79,465,974 (GRCm39)		probably benign	Het
Sipa1l1	T	A	12: 82,471,873 (GRCm39)	D1284E	probably benign	Het
Slc11a2	A	G	15: 100,306,097 (GRCm39)	L105P	probably damaging	Het
Slc1a3	T	A	15: 8,680,406 (GRCm39)	T151S	probably benign	Het
Smarca2	G	T	19: 26,668,762 (GRCm39)	K920N	probably damaging	Het
Sugp2	G	A	8: 70,711,598 (GRCm39)	E964K	probably damaging	Het
Tas2r122	A	C	6: 132,688,778 (GRCm39)	N38K	probably benign	Het
Tecpr1	G	A	5: 144,143,092 (GRCm39)	R730C	probably damaging	Het
Tent2	A	T	13: 93,312,123 (GRCm39)		probably benign	Het
Themis3	G	T	17: 66,900,265 (GRCm39)	N34K	possibly damaging	Het
Traf3ip1	A	G	1: 91,427,341 (GRCm39)	T104A	unknown	Het
Trappc11	A	G	8: 47,956,447 (GRCm39)	V843A	probably benign	Het
Trmt61a	T	A	12: 111,645,361 (GRCm39)	L99Q	probably damaging	Het
Trp53tg5	T	A	2: 164,313,401 (GRCm39)	K91N	probably damaging	Het
Ufsp2	T	C	8: 46,445,187 (GRCm39)	S339P	probably damaging	Het
Usp20	T	A	2: 30,894,462 (GRCm39)	V126E	probably damaging	Het
Vmn1r75	T	A	7: 11,614,797 (GRCm39)	N176K	probably damaging	Het
Vmn2r24	A	G	6: 123,793,012 (GRCm39)	S780G	probably benign	Het
Vmn2r89	A	G	14: 51,695,048 (GRCm39)		probably null	Het
Vps13d	A	T	4: 144,771,665 (GRCm39)	S4038T	probably damaging	Het
Vwa7	A	G	17: 35,241,627 (GRCm39)	T421A	probably damaging	Het
Wdr95	C	A	5: 149,504,271 (GRCm39)	L332I	probably damaging	Het
Wrn	T	A	8: 33,826,119 (GRCm39)	K181I	probably damaging	Het
Zc3h6	T	A	2: 128,859,143 (GRCm39)	I1058N	possibly damaging	Het
Zfp423	T	A	8: 88,508,713 (GRCm39)	I544F	probably damaging	Het
Zfp446	T	A	7: 12,713,516 (GRCm39)	S161T	possibly damaging	Het
Zmym6	T	A	4: 127,017,162 (GRCm39)	M889K	probably benign	Het

Other mutations in Cd53

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02500:Cd53	APN	3	106,676,142 (GRCm39)	missense	probably damaging	1.00
IGL02592:Cd53	APN	3	106,670,601 (GRCm39)	missense	probably damaging	1.00
R0090:Cd53	UTSW	3	106,674,725 (GRCm39)	missense	possibly damaging	0.94
R0392:Cd53	UTSW	3	106,670,592 (GRCm39)	missense	probably damaging	1.00
R1452:Cd53	UTSW	3	106,676,275 (GRCm39)	missense	probably damaging	1.00
R1693:Cd53	UTSW	3	106,676,205 (GRCm39)	missense	possibly damaging	0.66
R2042:Cd53	UTSW	3	106,674,740 (GRCm39)	critical splice acceptor site	probably null
R2300:Cd53	UTSW	3	106,670,572 (GRCm39)	missense	probably benign
R2878:Cd53	UTSW	3	106,674,732 (GRCm39)	missense	probably benign	0.00
R4081:Cd53	UTSW	3	106,669,461 (GRCm39)	missense	probably benign
R6180:Cd53	UTSW	3	106,674,680 (GRCm39)	missense	probably damaging	0.96
R6519:Cd53	UTSW	3	106,669,461 (GRCm39)	missense	probably benign	0.00
R6694:Cd53	UTSW	3	106,674,702 (GRCm39)	missense	probably benign	0.03
R7043:Cd53	UTSW	3	106,670,577 (GRCm39)	missense	probably damaging	1.00
R7417:Cd53	UTSW	3	106,676,235 (GRCm39)	missense	probably benign	0.17
R7736:Cd53	UTSW	3	106,675,252 (GRCm39)	missense	probably benign	0.12
R7893:Cd53	UTSW	3	106,674,702 (GRCm39)	missense	probably benign	0.03
R9493:Cd53	UTSW	3	106,674,683 (GRCm39)	missense	probably null	0.66

Predicted Primers

PCR Primer
(F):5'- caatagatgactgtgCTGCTTGACTTGA -3'
(R):5'- GGCTGGGGTAACATGGCAACTAA -3'

Sequencing Primer
(F):5'- gtgCTGCTTGACTTGATATATGTGc -3'
(R):5'- TGTAGTAAGAAGATGTGCTCTGAC -3'

Posted On

2013-06-12