Mutagenetix > Incidental Mutation

Incidental Mutation 'R6519:Cd53'

520955

Institutional Source

Beutler Lab

Gene Symbol

Cd53

Ensembl Gene

ENSMUSG00000040747

Gene Name

CD53 antigen

Synonyms

Tspan25, Ox-44

MMRRC Submission

044646-MU

Accession Numbers

Essential gene?

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

Stock #

R6519 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106667237-106697465 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 106669461 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 179 (H179L)

Ref Sequence

ENSEMBL: ENSMUSP00000035781 (fasta)

Gene Model

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

AlphaFold

Q61451

Predicted Effect

probably benign
Transcript: ENSMUST00000038845
AA Change: H179L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000035781
Gene: ENSMUSG00000040747
AA Change: H179L

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

Meta Mutation Damage Score

0.1029

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 91.7%

Validation Efficiency

97% (58/60)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4gnt	T	C	9: 99,495,723 (GRCm39)	I53T	probably damaging	Het
Adgrv1	C	T	13: 81,715,462 (GRCm39)	D909N	probably benign	Het
Ahdc1	T	C	4: 132,792,079 (GRCm39)	Y1107H	possibly damaging	Het
Aldob	A	T	4: 49,543,835 (GRCm39)	V49E	probably damaging	Het
Apol6	T	A	15: 76,935,476 (GRCm39)	Y248*	probably null	Het
Apol7b	T	A	15: 77,307,548 (GRCm39)	T316S	probably benign	Het
Atp13a2	G	C	4: 140,728,165 (GRCm39)	R503P	possibly damaging	Het
Brca2	A	C	5: 150,464,444 (GRCm39)	T1403P	probably damaging	Het
Cblc	T	C	7: 19,526,788 (GRCm39)	Y148C	probably damaging	Het
Cct7	C	A	6: 85,439,132 (GRCm39)	Q149K	probably benign	Het
Cyp2b19	A	G	7: 26,458,536 (GRCm39)	T84A	probably benign	Het
Cyp3a41a	A	G	5: 145,652,308 (GRCm39)	C64R	probably damaging	Het
Dclre1c	T	C	2: 3,430,366 (GRCm39)	Y75H	probably damaging	Het
Dhx35	A	T	2: 158,673,630 (GRCm39)	I354F	probably damaging	Het
Diaph3	T	C	14: 87,203,771 (GRCm39)	N629S	probably damaging	Het
Dnase1	A	T	16: 3,856,453 (GRCm39)	S132C	probably damaging	Het
Dnttip2	T	C	3: 122,069,120 (GRCm39)	S112P	probably benign	Het
Eif4g3	C	A	4: 137,721,319 (GRCm39)	P48T	probably benign	Het
Fat4	A	T	3: 39,057,020 (GRCm39)	T4239S	probably benign	Het
Fbn2	A	G	18: 58,196,647 (GRCm39)	V1419A	possibly damaging	Het
Ghitm	A	C	14: 36,847,204 (GRCm39)	M290R	probably damaging	Het
Glb1l	T	C	1: 75,177,700 (GRCm39)	D406G	probably benign	Het
Glipr1l1	C	A	10: 111,898,153 (GRCm39)	A86D	probably benign	Het
Golm2	T	C	2: 121,737,218 (GRCm39)	V141A	probably benign	Het
Grm7	C	T	6: 111,184,713 (GRCm39)	A348V	probably benign	Het
Gtf2h3	C	T	5: 124,722,360 (GRCm39)	T121I	probably benign	Het
Hdac2	T	A	10: 36,865,252 (GRCm39)	N155K	probably damaging	Het
Hus1b	A	G	13: 31,130,930 (GRCm39)	I243T	probably benign	Het
Kcnab2	T	C	4: 152,496,450 (GRCm39)	T65A	probably damaging	Het
Lasp1	T	A	11: 97,706,383 (GRCm39)		probably null	Het
Lrch3	G	A	16: 32,815,367 (GRCm39)		probably benign	Het
Ltb4r2	C	T	14: 56,000,438 (GRCm39)	T353M	probably benign	Het
Macf1	A	G	4: 123,366,118 (GRCm39)	M1316T	probably benign	Het
Msr1	G	A	8: 40,077,262 (GRCm39)	T116I	probably benign	Het
Nlrp5	A	G	7: 23,117,343 (GRCm39)	I356V	probably benign	Het
Npy	C	T	6: 49,800,669 (GRCm39)	S31F	possibly damaging	Het
Nsd3	C	T	8: 26,152,955 (GRCm39)	P432S	probably damaging	Het
Nup160	A	C	2: 90,548,561 (GRCm39)	R1037S	probably damaging	Het
Or12j4	T	A	7: 140,046,458 (GRCm39)	S115T	probably benign	Het
Or4b1d	A	T	2: 89,969,156 (GRCm39)	I109N	possibly damaging	Het
Or8s5	C	T	15: 98,237,929 (GRCm39)	G314R	probably benign	Het
Pcx	A	G	19: 4,652,239 (GRCm39)	E108G	possibly damaging	Het
Pecam1	A	T	11: 106,590,468 (GRCm39)	M102K	probably benign	Het
Pgd	G	T	4: 149,235,343 (GRCm39)	Y433*	probably null	Het
Pkd1l3	A	G	8: 110,355,404 (GRCm39)	E744G	probably benign	Het
Rb1	A	G	14: 73,535,503 (GRCm39)	I118T	probably benign	Het
Rdh11	T	A	12: 79,229,589 (GRCm39)	H228L	probably damaging	Het
Rnf44	C	T	13: 54,829,599 (GRCm39)	R340Q	probably damaging	Het
Rtraf	A	G	14: 19,869,998 (GRCm39)	V88A	possibly damaging	Het
Sigmar1	T	C	4: 41,739,380 (GRCm39)	T185A	possibly damaging	Het
Thsd1	A	G	8: 22,749,081 (GRCm39)	R590G	probably damaging	Het
Trappc14	A	G	5: 138,260,110 (GRCm39)	S344P	probably damaging	Het
Trbv19	T	C	6: 41,155,573 (GRCm39)		probably benign	Het
Txnrd3	T	C	6: 89,631,405 (GRCm39)		probably null	Het
Wwc1	C	T	11: 35,744,264 (GRCm39)	E853K	probably benign	Het
Xpnpep1	T	C	19: 53,000,275 (GRCm39)	N192D	possibly damaging	Het
Zfp955b	T	A	17: 33,521,051 (GRCm39)	S173R	possibly damaging	Het
Zranb1	T	A	7: 132,551,857 (GRCm39)	C195*	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
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'- TCATTTGTTCCTTGGCTAGAGTAACTC -3'
(R):5'- AGGTAAGAGTTCTGTGTTAGGTACAAG -3'

Sequencing Primer
(F):5'- ATAGGGCTCCTGGGATTA -3'
(R):5'- CTGGAGAAATGTCACTGACTT -3'

Posted On

2018-06-06