Mutagenetix > Incidental Mutation

Incidental Mutation 'R7417:Cd53'

575363

Institutional Source

Beutler Lab

Gene Symbol

Cd53

Ensembl Gene

ENSMUSG00000040747

Gene Name

CD53 antigen

Synonyms

Tspan25, Ox-44

MMRRC Submission

045495-MU

Accession Numbers

Essential gene?

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

Stock #

R7417 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106667237-106697465 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106676235 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 44 (F44S)

Ref Sequence

ENSEMBL: ENSMUSP00000035781 (fasta)

Gene Model

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

AlphaFold

Q61451

Predicted Effect

probably benign
Transcript: ENSMUST00000038845
AA Change: F44S

PolyPhen 2 Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000035781
Gene: ENSMUSG00000040747
AA Change: F44S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (79/79)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530064D06Rik	G	A	17: 48,460,057 (GRCm39)	T213I	probably damaging	Het
Akr1b7	G	A	6: 34,394,300 (GRCm39)		probably null	Het
Aldh6a1	T	C	12: 84,488,556 (GRCm39)	Q110R	probably benign	Het
Alg11	A	T	8: 22,552,044 (GRCm39)	T63S	probably benign	Het
Ankrd13b	A	G	11: 77,367,020 (GRCm39)	Y271H	probably damaging	Het
Ano8	T	A	8: 71,933,477 (GRCm39)	D605V	unknown	Het
Best2	C	T	8: 85,736,295 (GRCm39)		probably null	Het
Brca1	A	G	11: 101,415,807 (GRCm39)	S776P	probably damaging	Het
Capn7	T	C	14: 31,092,663 (GRCm39)	Y737H	probably damaging	Het
Cblc	A	T	7: 19,522,899 (GRCm39)	S333T	probably benign	Het
Ccm2	T	A	11: 6,543,091 (GRCm39)	M257K	probably benign	Het
Cd320	T	A	17: 34,066,530 (GRCm39)	C103*	probably null	Het
Col9a2	G	A	4: 120,911,489 (GRCm39)	R610H	not run	Het
Cubn	T	C	2: 13,431,778 (GRCm39)	I1272V	probably benign	Het
Cyp2j7	C	T	4: 96,090,225 (GRCm39)		probably null	Het
Dmrt2	A	T	19: 25,655,962 (GRCm39)	R520S	probably benign	Het
Dnai3	A	T	3: 145,798,835 (GRCm39)		probably null	Het
Drg2	A	G	11: 60,345,506 (GRCm39)	M1V	probably null	Het
Ect2	A	G	3: 27,152,568 (GRCm39)	S908P	probably damaging	Het
Eipr1	A	G	12: 28,916,954 (GRCm39)	T341A	probably benign	Het
Ell3	A	C	2: 121,270,891 (GRCm39)	I214R	probably benign	Het
Emsy	A	T	7: 98,264,693 (GRCm39)	L568Q	probably damaging	Het
Foxd4	T	C	19: 24,877,826 (GRCm39)	T125A	probably damaging	Het
Fthl17b	C	T	X: 8,829,043 (GRCm39)	R9Q	possibly damaging	Het
Fthl17b	C	T	X: 8,829,047 (GRCm39)	V8M	possibly damaging	Het
Gcsam	C	A	16: 45,440,240 (GRCm39)	H94Q	probably damaging	Het
Ginm1	T	A	10: 7,649,844 (GRCm39)	I150F	probably damaging	Het
H2bw2	G	A	X: 135,828,471 (GRCm39)	R120K	unknown	Het
Hk2	G	A	6: 82,720,326 (GRCm39)	A205V	probably damaging	Het
Il3ra	A	T	14: 14,349,345 (GRCm38)	H147L	probably benign	Het
Map3k6	T	A	4: 132,975,707 (GRCm39)	S732T	probably benign	Het
Masp2	A	G	4: 148,690,178 (GRCm39)	E229G	probably benign	Het
Mccc2	A	G	13: 100,108,285 (GRCm39)		probably null	Het
Mia3	A	G	1: 183,108,508 (GRCm39)	V359A		Het
Mob1a	A	T	6: 83,309,492 (GRCm39)	T80S	probably benign	Het
Msantd2	G	A	9: 37,434,590 (GRCm39)	G478S	probably damaging	Het
Mtf1	A	G	4: 124,718,974 (GRCm39)	E329G	probably null	Het
Myh9	T	A	15: 77,648,065 (GRCm39)	K1804*	probably null	Het
Ndst3	A	G	3: 123,465,313 (GRCm39)	W220R	probably damaging	Het
Nln	A	G	13: 104,173,478 (GRCm39)	L576P	probably damaging	Het
Nlrc4	A	G	17: 74,753,483 (GRCm39)	M300T	probably benign	Het
Obscn	G	T	11: 59,020,403 (GRCm39)	D880E	possibly damaging	Het
Oprd1	T	C	4: 131,844,763 (GRCm39)	T82A	probably damaging	Het
Or2n1d	T	A	17: 38,646,183 (GRCm39)	I45N	probably damaging	Het
Or4f60	A	C	2: 111,902,445 (GRCm39)	V161G	probably benign	Het
Orc3	A	G	4: 34,595,136 (GRCm39)	C278R	probably damaging	Het
Pde4d	T	A	13: 109,769,322 (GRCm39)		probably null	Het
Pms1	T	C	1: 53,236,231 (GRCm39)	E683G	probably benign	Het
Prdm2	A	T	4: 142,905,869 (GRCm39)	Y73N	probably damaging	Het
Prkaa2	T	C	4: 104,932,740 (GRCm39)	Q36R	probably benign	Het
Psg22	A	G	7: 18,456,891 (GRCm39)	E258G	probably damaging	Het
Ptprf	T	C	4: 118,069,369 (GRCm39)	D1566G	probably damaging	Het
Rfwd3	T	A	8: 111,999,701 (GRCm39)	Y759F	probably benign	Het
Ripor2	A	G	13: 24,880,533 (GRCm39)	D411G	probably damaging	Het
Ryr2	A	C	13: 11,571,634 (GRCm39)		probably null	Het
Sdr42e1	T	C	8: 118,389,490 (GRCm39)	T384A	probably benign	Het
Sec1	A	T	7: 45,334,149 (GRCm39)		probably null	Het
Sec16a	A	T	2: 26,311,409 (GRCm39)	F616I		Het
Sipa1l2	T	C	8: 126,208,845 (GRCm39)	D521G	possibly damaging	Het
Smc1b	T	A	15: 84,981,743 (GRCm39)	Q759L	probably benign	Het
Snph	A	T	2: 151,442,263 (GRCm39)	S57R	probably damaging	Het
Sqor	A	T	2: 122,629,450 (GRCm39)	T103S	probably benign	Het
Srbd1	A	G	17: 86,443,749 (GRCm39)	V159A	probably benign	Het
Srsf2	A	T	11: 116,743,727 (GRCm39)	V10E	probably damaging	Het
Swap70	T	A	7: 109,863,316 (GRCm39)		probably null	Het
Synm	A	C	7: 67,382,954 (GRCm39)	*675G	probably null	Het
Tek	A	G	4: 94,699,582 (GRCm39)	E320G	probably benign	Het
Tenm3	T	C	8: 48,689,218 (GRCm39)	D2123G	probably damaging	Het
Tmod4	A	G	3: 95,033,174 (GRCm39)	K56R	possibly damaging	Het
Top3b	G	A	16: 16,695,714 (GRCm39)		probably benign	Het
Tssc4	G	T	7: 142,624,425 (GRCm39)	E244D	possibly damaging	Het
Twnk	G	A	19: 44,999,003 (GRCm39)		probably null	Het
Ube4a	A	C	9: 44,868,011 (GRCm39)	I45S	probably benign	Het
Unc79	A	T	12: 103,055,017 (GRCm39)	M954L	possibly damaging	Het
Vcpip1	A	T	1: 9,816,540 (GRCm39)	D614E	probably benign	Het
Vmn1r45	T	A	6: 89,910,035 (GRCm39)	I312L	probably benign	Het
Vmn1r77	A	G	7: 11,775,611 (GRCm39)	Y129C	probably damaging	Het
Zer1	A	G	2: 29,992,834 (GRCm39)	L600P	probably damaging	Het
Zfp266	T	C	9: 20,412,232 (GRCm39)	T114A	probably benign	Het
Zrsr2-ps1	T	C	11: 22,924,662 (GRCm39)		probably null	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
R0538:Cd53	UTSW	3	106,669,444 (GRCm39)	missense	probably benign	0.07
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
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'- CTTGATTGTAGGTGTTTCCCAAAAG -3'
(R):5'- TCTTGAGTCAGCAAAACCAGG -3'

Sequencing Primer
(F):5'- TATTACCCCAAATTTGAGCCATCATC -3'
(R):5'- CCAGGTAACACTGATCTCAAGAAGG -3'

Posted On

2019-10-07