Mutagenetix > Incidental Mutation

Incidental Mutation 'R7736:Cd53'

596238

Institutional Source

Beutler Lab

Gene Symbol

Cd53

Ensembl Gene

ENSMUSG00000040747

Gene Name

CD53 antigen

Synonyms

Tspan25, Ox-44

MMRRC Submission

045792-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.206) question?

Stock #

R7736 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

106667237-106697465 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 106675252 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 106 (Y106F)

Ref Sequence

ENSEMBL: ENSMUSP00000035781 (fasta)

Gene Model

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

AlphaFold

Q61451

Predicted Effect

probably benign
Transcript: ENSMUST00000038845
AA Change: Y106F

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000035781
Gene: ENSMUSG00000040747
AA Change: Y106F

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	G	1: 71,359,123 (GRCm39)	D561A	probably benign	Het
Adgrg1	T	C	8: 95,731,965 (GRCm39)	F204S	probably benign	Het
Apoa2	T	C	1: 171,053,741 (GRCm39)	L72P	probably damaging	Het
Arhgef10	A	T	8: 15,030,583 (GRCm39)	K987*	probably null	Het
Arrb1	A	G	7: 99,188,981 (GRCm39)	D9G	unknown	Het
Asph	A	G	4: 9,621,930 (GRCm39)	S192P	possibly damaging	Het
Bcas1	G	A	2: 170,229,084 (GRCm39)	T309M	possibly damaging	Het
Bcat2	C	T	7: 45,234,617 (GRCm39)	T166M	possibly damaging	Het
Bmp5	A	T	9: 75,801,072 (GRCm39)	I401L	probably damaging	Het
Bpifb9b	G	A	2: 154,154,025 (GRCm39)	G261R	probably benign	Het
Cdhr3	T	A	12: 33,103,519 (GRCm39)	D366V	probably benign	Het
Ceacam10	G	C	7: 24,480,636 (GRCm39)	V256L	unknown	Het
Cilp2	A	G	8: 70,334,071 (GRCm39)	Y976H	probably damaging	Het
Cklf	A	G	8: 104,988,187 (GRCm39)	T107A	possibly damaging	Het
Dhx16	T	A	17: 36,192,568 (GRCm39)	W167R	possibly damaging	Het
Dkk2	T	G	3: 131,883,775 (GRCm39)	L225R	probably damaging	Het
Dmbt1	A	T	7: 130,718,625 (GRCm39)	D1782V	unknown	Het
Ebag9	A	T	15: 44,491,800 (GRCm39)	D64V	probably damaging	Het
Eif3j2	T	C	18: 43,610,382 (GRCm39)	N144D	possibly damaging	Het
Elp1	T	C	4: 56,776,920 (GRCm39)	T626A	possibly damaging	Het
Foxk2	A	T	11: 121,190,473 (GRCm39)	Q538L	possibly damaging	Het
Fpgt	T	G	3: 154,792,747 (GRCm39)	I427L	probably benign	Het
Ganc	A	T	2: 120,264,295 (GRCm39)	N416I	possibly damaging	Het
Gata6	A	G	18: 11,084,379 (GRCm39)	Y556C	probably damaging	Het
Gga2	A	T	7: 121,589,747 (GRCm39)	V534E	probably damaging	Het
Gm7324	T	A	14: 43,952,256 (GRCm39)	S300T	possibly damaging	Het
Gprc6a	A	C	10: 51,491,549 (GRCm39)	N733K	possibly damaging	Het
Hivep3	C	T	4: 119,952,740 (GRCm39)	T352I	possibly damaging	Het
Ift88	T	G	14: 57,683,121 (GRCm39)	V266G	probably benign	Het
Ip6k1	G	T	9: 107,922,891 (GRCm39)	G341V	probably damaging	Het
Itga3	G	T	11: 94,967,029 (GRCm39)	A45E	probably damaging	Het
Kctd14	T	A	7: 97,107,147 (GRCm39)	L134Q	probably damaging	Het
Lats1	C	A	10: 7,578,128 (GRCm39)	N417K	probably damaging	Het
Lrrc37a	T	C	11: 103,388,285 (GRCm39)	H2380R	unknown	Het
Lrrc4c	A	G	2: 97,460,705 (GRCm39)	T444A	probably benign	Het
M1ap	T	C	6: 82,982,565 (GRCm39)	I283T	probably benign	Het
Mapre2	T	C	18: 24,011,012 (GRCm39)	S207P	probably benign	Het
Moxd1	T	C	10: 24,158,608 (GRCm39)	F421L	probably damaging	Het
Nos2	T	A	11: 78,813,192 (GRCm39)	C33*	probably null	Het
Or14j4	A	T	17: 37,921,303 (GRCm39)	L113H	probably damaging	Het
Or1j16	A	T	2: 36,530,197 (GRCm39)	I49F	probably damaging	Het
Or5g26	T	C	2: 85,494,758 (GRCm39)	T7A	probably damaging	Het
Otud4	T	C	8: 80,382,394 (GRCm39)	I201T	possibly damaging	Het
Pank4	T	C	4: 155,054,204 (GRCm39)	Y128H	probably benign	Het
Phf11	C	T	14: 59,488,594 (GRCm39)	D68N	probably benign	Het
Pitpnm2	A	G	5: 124,261,093 (GRCm39)	V1027A	possibly damaging	Het
Plcb3	A	G	19: 6,946,991 (GRCm39)	V8A	probably benign	Het
Por	A	G	5: 135,759,976 (GRCm39)	E221G	probably damaging	Het
Prokr2	A	T	2: 132,223,500 (GRCm39)	L14*	probably null	Het
Ptgis	A	G	2: 167,033,891 (GRCm39)	F459S	unknown	Het
Ptpru	T	C	4: 131,515,693 (GRCm39)	E887G	probably damaging	Het
Qrich2	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	11: 116,348,367 (GRCm39)		probably benign	Het
Slc18a1	A	G	8: 69,518,206 (GRCm39)		probably null	Het
Slc27a3	A	G	3: 90,296,740 (GRCm39)	S120P	probably benign	Het
Slc2a12	T	A	10: 22,540,717 (GRCm39)	Y191N	probably damaging	Het
Snx29	T	A	16: 11,185,588 (GRCm39)	M57K	probably benign	Het
Syncrip	A	G	9: 88,343,721 (GRCm39)		probably null	Het
Taar4	T	A	10: 23,836,897 (GRCm39)	V169E	probably damaging	Het
Tas1r1	C	T	4: 152,116,923 (GRCm39)	G237D	probably benign	Het
Tle1	T	C	4: 72,117,571 (GRCm39)	K30E	probably damaging	Het
Tmem131l	A	T	3: 83,847,875 (GRCm39)	L330Q	probably damaging	Het
Tmem67	A	G	4: 12,053,455 (GRCm39)	F698L	probably benign	Het
Ttn	T	A	2: 76,739,574 (GRCm39)	Q3701L	unknown	Het
Vmn2r17	G	A	5: 109,600,757 (GRCm39)	R685K	probably benign	Het
Ylpm1	C	A	12: 85,059,757 (GRCm39)	A321E	unknown	Het
Zdbf2	T	A	1: 63,347,166 (GRCm39)	Y1848*	probably null	Het
Zfand2b	T	A	1: 75,146,176 (GRCm39)	N61K	probably null	Het
Zfp867	C	T	11: 59,354,016 (GRCm39)	A438T	probably damaging	Het
Zkscan14	G	A	5: 145,132,319 (GRCm39)	T404I	probably benign	Het
Zrsr2-ps1	C	T	11: 22,923,510 (GRCm39)	Q95*	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
R7417:Cd53	UTSW	3	106,676,235 (GRCm39)	missense	probably benign	0.17
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'- GAAGACAAACTTGCTTCATCTTCTC -3'
(R):5'- CAAGCATAAGGATATGTGTGTCTG -3'

Sequencing Primer
(F):5'- AAACTTGCTTCATCTTCTCTTTAAGG -3'
(R):5'- ACTTGACTTGAGGCACATGC -3'

Posted On

2019-11-26