Mutagenetix > Incidental Mutation

Incidental Mutation 'R7135:Cd59b'

552975

Institutional Source

Beutler Lab

Gene Symbol

Cd59b

Ensembl Gene

ENSMUSG00000068686

Gene Name

CD59b antigen

Synonyms

MMRRC Submission

045247-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R7135 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103900127-103920619 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 103914792 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 63 (W63*)

Ref Sequence

ENSEMBL: ENSMUSP00000106760 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090429] [ENSMUST00000111130] [ENSMUST00000111131] [ENSMUST00000111132] [ENSMUST00000129749]

AlphaFold

P58019

Predicted Effect

probably null
Transcript: ENSMUST00000090429
AA Change: W63*

SMART Domains

Protein: ENSMUSP00000087912
Gene: ENSMUSG00000068686
AA Change: W63*

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
LU	24	104	1.88e-19	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000111130
AA Change: W63*

SMART Domains

Protein: ENSMUSP00000106760
Gene: ENSMUSG00000068686
AA Change: W63*

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
LU	24	104	1.88e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000111131

SMART Domains

Protein: ENSMUSP00000106761
Gene: ENSMUSG00000068686

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:UPAR_LY6	26	84	1.1e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111132

SMART Domains

Protein: ENSMUSP00000106762
Gene: ENSMUSG00000068686

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:UPAR_LY6	26	55	1.2e-5	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000129749
AA Change: W63*

SMART Domains

Protein: ENSMUSP00000117553
Gene: ENSMUSG00000068686
AA Change: W63*

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
LU	24	104	1.88e-19	SMART

Meta Mutation Damage Score

0.9754

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (83/83)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cell surface glycoprotein that regulates complement-mediated cell lysis, and it is involved in lymphocyte signal transduction. This protein is a potent inhibitor of the complement membrane attack complex, whereby it binds complement C8 and/or C9 during the assembly of this complex, thereby inhibiting the incorporation of multiple copies of C9 into the complex, which is necessary for osmolytic pore formation. This protein also plays a role in signal transduction pathways in the activation of T cells. Mutations in this gene cause CD59 deficiency, a disease resulting in hemolytic anemia and thrombosis, and which causes cerebral infarction. Multiple alternatively spliced transcript variants, which encode the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted null mutation develop a severe hemolytic anemia and progressive male infertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	T	A	17: 45,819,887 (GRCm39)	Y221*	probably null	Het
AC166344.1	T	A	14: 43,158,245 (GRCm39)	F97I		Het
Ankmy2	T	C	12: 36,246,311 (GRCm39)	S412P	probably benign	Het
Ap1s3	T	C	1: 79,586,919 (GRCm39)	T144A	probably benign	Het
Armh2	T	C	13: 24,925,489 (GRCm39)	S78P	probably benign	Het
Asb3	T	A	11: 30,948,501 (GRCm39)	L59*	probably null	Het
Asxl3	G	T	18: 22,650,758 (GRCm39)	G916*	probably null	Het
Asxl3	G	C	18: 22,650,759 (GRCm39)	G916A	probably damaging	Het
Birc2	A	C	9: 7,818,762 (GRCm39)	F610V	probably damaging	Het
Camk4	G	A	18: 33,240,996 (GRCm39)		probably null	Het
Ccdc162	A	G	10: 41,549,855 (GRCm39)	S343P	probably benign	Het
Ccnk	T	A	12: 108,152,734 (GRCm39)	L17Q	probably damaging	Het
Chrm3	C	T	13: 9,927,837 (GRCm39)	V400I	probably benign	Het
Crb1	C	A	1: 139,171,105 (GRCm39)	V762F	probably damaging	Het
Cspp1	C	T	1: 10,159,161 (GRCm39)	T529I	possibly damaging	Het
Cttnbp2	A	G	6: 18,448,446 (GRCm39)	I71T	possibly damaging	Het
Cyb561	C	A	11: 105,826,393 (GRCm39)	G90V	probably damaging	Het
Cyld	T	A	8: 89,471,520 (GRCm39)	D804E	possibly damaging	Het
Ddx31	G	A	2: 28,738,318 (GRCm39)	V160I	probably benign	Het
Dgkg	T	C	16: 22,319,132 (GRCm39)	D643G	probably damaging	Het
Dnah12	T	G	14: 26,523,370 (GRCm39)	I1953S	probably damaging	Het
Dnah12	G	A	14: 26,500,869 (GRCm39)		probably null	Het
Dnah7b	T	C	1: 46,178,870 (GRCm39)	W848R	probably damaging	Het
Dnah7c	C	T	1: 46,572,368 (GRCm39)	T947M	probably damaging	Het
Dnmt3c	C	A	2: 153,556,872 (GRCm39)		probably null	Het
Dsp	A	T	13: 38,363,049 (GRCm39)	Y443F	probably damaging	Het
Espl1	T	A	15: 102,227,959 (GRCm39)	C1603*	probably null	Het
Faiml	G	T	9: 99,116,496 (GRCm39)	R65S	probably benign	Het
Gfpt2	T	C	11: 49,695,782 (GRCm39)	I4T	probably damaging	Het
Gm10376	T	A	14: 42,867,950 (GRCm39)	M179L	probably benign	Het
Gm4302	T	A	10: 100,177,589 (GRCm39)	M291K	unknown	Het
Gnb1l	T	A	16: 18,363,918 (GRCm39)	D154E	probably benign	Het
Igkv10-94	T	C	6: 68,681,727 (GRCm39)	R38G	possibly damaging	Het
Inmt	A	T	6: 55,148,013 (GRCm39)	Y205*	probably null	Het
Krba1	A	G	6: 48,393,233 (GRCm39)	Q1049R	probably benign	Het
Lpxn	T	A	19: 12,810,683 (GRCm39)	C376S	probably damaging	Het
Lrrc52	T	A	1: 167,294,019 (GRCm39)	I89F	probably damaging	Het
Map9	A	T	3: 82,270,765 (GRCm39)	T110S	probably benign	Het
Mccc1	T	C	3: 36,049,967 (GRCm39)	Y75C	probably damaging	Het
Mff	T	A	1: 82,724,812 (GRCm39)	L203*	probably null	Het
Micall1	C	A	15: 78,993,624 (GRCm39)	D47E	unknown	Het
Mink1	T	C	11: 70,494,329 (GRCm39)	F243S	probably damaging	Het
Mlycd	C	T	8: 120,129,216 (GRCm39)	R228W	probably damaging	Het
Msr1	A	T	8: 40,042,465 (GRCm39)	V370E	possibly damaging	Het
Naip6	T	C	13: 100,436,927 (GRCm39)	E532G	probably damaging	Het
Nepn	G	A	10: 52,267,815 (GRCm39)	C27Y	probably damaging	Het
Ninl	T	C	2: 150,797,524 (GRCm39)	H592R	probably benign	Het
Nr4a2	A	G	2: 57,002,261 (GRCm39)	M64T	possibly damaging	Het
Oprm1	A	T	10: 6,780,203 (GRCm39)	I171F	possibly damaging	Het
Or4g16	T	A	2: 111,137,365 (GRCm39)	F272I	probably benign	Het
Or5p60	T	C	7: 107,723,781 (GRCm39)	K230E	probably damaging	Het
Pcbp1	A	T	6: 86,502,488 (GRCm39)	M137K	possibly damaging	Het
Pcf11	A	T	7: 92,306,524 (GRCm39)	S1215T	probably benign	Het
Pdlim5	A	T	3: 142,017,683 (GRCm39)		probably null	Het
Pecam1	T	C	11: 106,579,857 (GRCm39)	I402V	probably damaging	Het
Pex12	T	C	11: 83,188,468 (GRCm39)	T176A	probably benign	Het
Phf3	T	C	1: 30,870,190 (GRCm39)	K286R	possibly damaging	Het
Pik3ap1	T	A	19: 41,320,760 (GRCm39)	D153V	probably damaging	Het
Pkhd1l1	T	A	15: 44,448,374 (GRCm39)		probably null	Het
Plekhn1	A	G	4: 156,307,792 (GRCm39)	V378A	probably benign	Het
Pramel26	A	T	4: 143,537,233 (GRCm39)	L366Q	probably damaging	Het
Ptprm	A	T	17: 67,251,283 (GRCm39)	D531E	possibly damaging	Het
Pum2	A	T	12: 8,778,952 (GRCm39)	Q508L	possibly damaging	Het
Rad54l	A	G	4: 115,963,027 (GRCm39)	S324P	probably damaging	Het
Recql5	C	T	11: 115,821,498 (GRCm39)		probably null	Het
Reln	A	T	5: 22,181,594 (GRCm39)	V1763D	possibly damaging	Het
Rp1	T	C	1: 4,418,391 (GRCm39)	N907S	possibly damaging	Het
Scaf11	T	A	15: 96,318,209 (GRCm39)	N452Y	possibly damaging	Het
Scgb2b3	T	A	7: 31,059,639 (GRCm39)	H45L	possibly damaging	Het
Sim1	A	G	10: 50,772,023 (GRCm39)	T11A	probably damaging	Het
Slc5a12	T	A	2: 110,447,059 (GRCm39)	M189K	possibly damaging	Het
Slco2b1	C	T	7: 99,344,270 (GRCm39)	G10S	probably null	Het
Speer1j	C	T	5: 11,555,198 (GRCm39)	P83S	probably damaging	Het
Stxbp3	A	G	3: 108,708,071 (GRCm39)	L410P	probably damaging	Het
Sugct	T	C	13: 17,476,594 (GRCm39)	N297D	probably benign	Het
Syne1	A	G	10: 5,183,409 (GRCm39)	I4132T	probably benign	Het
Teddm1b	A	T	1: 153,750,912 (GRCm39)	L240F	probably damaging	Het
Tlr5	C	A	1: 182,803,088 (GRCm39)	D797E	possibly damaging	Het
Tmprss13	G	T	9: 45,249,643 (GRCm39)	G327C	probably damaging	Het
Tnrc18	G	T	5: 142,773,572 (GRCm39)	A419D		Het
Ttc28	T	C	5: 111,427,873 (GRCm39)	Y1790H	probably damaging	Het
Vmn1r125	T	G	7: 21,006,327 (GRCm39)	M75R	probably damaging	Het
Vwa3a	T	A	7: 120,372,253 (GRCm39)	D276E	possibly damaging	Het
Wdfy3	C	T	5: 102,063,303 (GRCm39)	V1322M	probably damaging	Het
Wdr11	T	C	7: 129,229,830 (GRCm39)	S872P	possibly damaging	Het
Zc3h13	T	C	14: 75,559,161 (GRCm39)	S357P	unknown	Het

Other mutations in Cd59b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02485:Cd59b	APN	2	103,911,449 (GRCm39)	splice site	probably benign
IGL02501:Cd59b	APN	2	103,909,273 (GRCm39)	missense	probably damaging	0.99
IGL02740:Cd59b	APN	2	103,909,242 (GRCm39)	missense	probably benign	0.02
IGL03209:Cd59b	APN	2	103,914,905 (GRCm39)	missense	probably benign
R0123:Cd59b	UTSW	2	103,909,286 (GRCm39)	splice site	probably null
R0134:Cd59b	UTSW	2	103,909,286 (GRCm39)	splice site	probably null
R0225:Cd59b	UTSW	2	103,909,286 (GRCm39)	splice site	probably null
R0883:Cd59b	UTSW	2	103,911,331 (GRCm39)	splice site	probably benign
R7300:Cd59b	UTSW	2	103,914,795 (GRCm39)	missense	possibly damaging	0.55
Z1088:Cd59b	UTSW	2	103,911,348 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- TGTTGCAACTGGAGAGGGAC -3'
(R):5'- GGGCATCCAGGATGACTTAG -3'

Sequencing Primer
(F):5'- AGGGACATGGCCAATTCTC -3'
(R):5'- ATGGCCACCAGAACTGAGGTC -3'

Posted On

2019-05-15