Mutagenetix > Incidental Mutation

Incidental Mutation 'R6038:Antxr1'

479295

Institutional Source

Beutler Lab

Gene Symbol

Antxr1

Ensembl Gene

ENSMUSG00000033420

Gene Name

anthrax toxin receptor 1

Synonyms

2810405N18Rik, Tem8, 2310008J16Rik

MMRRC Submission

044208-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6038 (G1)

Quality Score

136.008

Status

Not validated

Chromosome

Chromosomal Location

87110835-87312757 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to A at 87263982 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000144911 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042025] [ENSMUST00000204805] [ENSMUST00000204805] [ENSMUST00000205033] [ENSMUST00000205033]

AlphaFold

Q9CZ52

Predicted Effect

probably null
Transcript: ENSMUST00000042025

SMART Domains

Protein: ENSMUSP00000045634
Gene: ENSMUSG00000033420

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
VWA	40	218	8.08e-18	SMART
low complexity region	304	313	N/A	INTRINSIC
transmembrane domain	319	341	N/A	INTRINSIC
low complexity region	351	363	N/A	INTRINSIC
Pfam:Ant_C	394	486	5.9e-51	PFAM
low complexity region	501	561	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000203131

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203563

Predicted Effect

probably null
Transcript: ENSMUST00000204805

SMART Domains

Protein: ENSMUSP00000145105
Gene: ENSMUSG00000033420

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
VWA	40	218	8.08e-18	SMART
low complexity region	304	313	N/A	INTRINSIC
transmembrane domain	319	341	N/A	INTRINSIC
low complexity region	351	363	N/A	INTRINSIC
Pfam:Ant_C	394	482	8.5e-45	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000204805

SMART Domains

Protein: ENSMUSP00000145105
Gene: ENSMUSG00000033420

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
VWA	40	218	8.08e-18	SMART
low complexity region	304	313	N/A	INTRINSIC
transmembrane domain	319	341	N/A	INTRINSIC
low complexity region	351	363	N/A	INTRINSIC
Pfam:Ant_C	394	482	8.5e-45	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000205033

SMART Domains

Protein: ENSMUSP00000144911
Gene: ENSMUSG00000033420

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
VWA	40	218	5.2e-20	SMART
low complexity region	304	313	N/A	INTRINSIC
transmembrane domain	319	341	N/A	INTRINSIC
low complexity region	351	363	N/A	INTRINSIC
Pfam:Ant_C	394	485	3.9e-42	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000205033

SMART Domains

Protein: ENSMUSP00000144911
Gene: ENSMUSG00000033420

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
VWA	40	218	5.2e-20	SMART
low complexity region	304	313	N/A	INTRINSIC
transmembrane domain	319	341	N/A	INTRINSIC
low complexity region	351	363	N/A	INTRINSIC
Pfam:Ant_C	394	485	3.9e-42	PFAM

Meta Mutation Damage Score

0.9493

Coding Region Coverage

1x: 99.8%
3x: 99.1%
10x: 93.7%
20x: 76.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a type I transmembrane protein and is a tumor-specific endothelial marker that has been implicated in colorectal cancer. The encoded protein has been shown to also be a docking protein or receptor for Bacillus anthracis toxin, the causative agent of the disease, anthrax. The binding of the protective antigen (PA) component, of the tripartite anthrax toxin, to this receptor protein mediates delivery of toxin components to the cytosol of cells. Once inside the cell, the other two components of anthrax toxin, edema factor (EF) and lethal factor (LF) disrupt normal cellular processes. Three alternatively spliced variants that encode different protein isoforms have been described. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for a null mutation display female infertility and malocclusion of the incisors. Mice homozygous for a different knock-out allele exhibit malocclusion of incisors and increased extracellular matrix deposition in several organs, includingthe ovaries and uterus, but normal fertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	A	G	17: 46,615,286 (GRCm39)	C1327R	probably damaging	Het
Adcy7	A	G	8: 89,049,608 (GRCm39)	T704A	probably benign	Het
Adgra3	A	T	5: 50,156,487 (GRCm39)	Y414*	probably null	Het
Adgrf1	T	C	17: 43,606,100 (GRCm39)	S75P	probably benign	Het
Arid1b	A	T	17: 5,386,957 (GRCm39)	Y1470F	probably benign	Het
Baiap3	T	C	17: 25,465,308 (GRCm39)	D649G	probably damaging	Het
Cabin1	A	G	10: 75,575,200 (GRCm39)	V615A	probably benign	Het
Cntnap1	G	A	11: 101,075,462 (GRCm39)	R880Q	probably benign	Het
Col28a1	T	C	6: 8,013,140 (GRCm39)	T971A	probably benign	Het
Coro7	A	T	16: 4,497,414 (GRCm39)		probably null	Het
Cspg4b	G	A	13: 113,455,153 (GRCm39)	V400M	possibly damaging	Het
Defb19	T	G	2: 152,418,187 (GRCm39)		probably null	Het
Dnah17	T	C	11: 117,946,715 (GRCm39)	D3045G	probably benign	Het
Dock4	A	T	12: 40,783,350 (GRCm39)		probably null	Het
Egln3	A	G	12: 54,228,476 (GRCm39)	V210A	probably damaging	Het
Epb41l4a	T	C	18: 33,987,388 (GRCm39)	S330G	probably benign	Het
Epha7	G	A	4: 28,821,521 (GRCm39)	E229K	probably damaging	Het
Fetub	C	T	16: 22,751,081 (GRCm39)	R143C	probably damaging	Het
Garin4	C	T	1: 190,894,919 (GRCm39)	E575K	probably damaging	Het
Garin5a	C	T	7: 44,149,719 (GRCm39)	R147W	probably damaging	Het
Garin5b	T	C	7: 4,756,594 (GRCm39)		probably null	Het
Gxylt2	T	A	6: 100,781,555 (GRCm39)	L410Q	probably damaging	Het
H2-M10.3	C	A	17: 36,679,287 (GRCm39)	C6F	probably benign	Het
Hecw1	G	T	13: 14,520,647 (GRCm39)	Q197K	probably benign	Het
Hk3	T	C	13: 55,154,373 (GRCm39)	M778V	probably benign	Het
Hydin	A	G	8: 111,325,663 (GRCm39)	T4691A	probably benign	Het
Kndc1	CT	C	7: 139,503,691 (GRCm39)		probably null	Het
Larp1	A	G	11: 57,932,431 (GRCm39)	E204G	possibly damaging	Het
Lrp12	A	C	15: 39,735,776 (GRCm39)	W738G	probably damaging	Het
Marchf10	A	G	11: 105,292,877 (GRCm39)	S72P	probably damaging	Het
Mdga2	A	T	12: 66,676,827 (GRCm39)	D488E	probably damaging	Het
Mrc1	G	C	2: 14,261,882 (GRCm39)	W290C	probably damaging	Het
Mtrex	A	T	13: 113,027,824 (GRCm39)	S679T	probably benign	Het
Nhp2	T	C	11: 51,510,912 (GRCm39)	V55A	probably benign	Het
Or10ag54	T	A	2: 87,099,611 (GRCm39)	I141N	possibly damaging	Het
Or11g25	T	C	14: 50,723,677 (GRCm39)	L254P	probably damaging	Het
Or7e165	A	G	9: 19,694,858 (GRCm39)	Y143C	probably benign	Het
Osbpl7	C	T	11: 96,941,542 (GRCm39)	P22S	probably benign	Het
Pebp1	A	T	5: 117,422,170 (GRCm39)	L124Q	probably benign	Het
Pfkp	G	T	13: 6,648,005 (GRCm39)	H524N	probably benign	Het
Pnmt	G	A	11: 98,278,594 (GRCm39)	D187N	probably damaging	Het
Ppl	A	T	16: 4,920,445 (GRCm39)	I355K	possibly damaging	Het
Prom1	A	T	5: 44,159,135 (GRCm39)	Y836N	probably damaging	Het
Rubcnl	T	C	14: 75,269,410 (GRCm39)	S23P	probably benign	Het
Sap130	T	A	18: 31,813,539 (GRCm39)	I532N	probably damaging	Het
Serpina1e	A	T	12: 103,913,095 (GRCm39)		probably null	Het
Slc12a3	T	G	8: 95,057,100 (GRCm39)	S124R	probably benign	Het
Slc24a5	A	G	2: 124,927,651 (GRCm39)	T317A	probably benign	Het
Smarcad1	T	C	6: 65,050,232 (GRCm39)	S284P	possibly damaging	Het
Spag9	C	G	11: 94,002,918 (GRCm39)	R724G	probably damaging	Het
Speg	T	C	1: 75,395,103 (GRCm39)		probably null	Het
Steap3	A	G	1: 120,169,371 (GRCm39)	Y271H	probably damaging	Het
Syne2	C	T	12: 75,925,158 (GRCm39)	Q44*	probably null	Het
Syt16	G	A	12: 74,269,309 (GRCm39)		probably null	Het
Tas2r114	A	T	6: 131,666,444 (GRCm39)	C195S	possibly damaging	Het
Tcl1b4	T	C	12: 105,168,766 (GRCm39)	M10T	possibly damaging	Het
Tln1	G	C	4: 43,555,052 (GRCm39)	F259L	probably damaging	Het
Vmn2r60	C	A	7: 41,844,386 (GRCm39)	A583D	probably benign	Het
Wdhd1	T	C	14: 47,501,037 (GRCm39)	Q455R	possibly damaging	Het
Wdr17	A	G	8: 55,085,346 (GRCm39)		probably null	Het
Xbp1	T	C	11: 5,474,798 (GRCm39)	L233P	probably benign	Het
Zbtb17	A	G	4: 141,191,752 (GRCm39)	E288G	probably benign	Het

Other mutations in Antxr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00592:Antxr1	APN	6	87,265,784 (GRCm39)	missense	probably damaging	1.00
IGL02391:Antxr1	APN	6	87,264,038 (GRCm39)	missense	probably damaging	1.00
IGL02944:Antxr1	APN	6	87,165,141 (GRCm39)	missense	possibly damaging	0.93
IGL03278:Antxr1	APN	6	87,181,439 (GRCm39)	splice site	probably benign
slinky	UTSW	6	87,263,982 (GRCm39)	critical splice donor site	probably null
slipnslide	UTSW	6	87,261,291 (GRCm39)	missense	probably damaging	1.00
Stubby	UTSW	6	87,194,255 (GRCm39)	critical splice donor site	probably null
E0374:Antxr1	UTSW	6	87,232,861 (GRCm39)	missense	probably benign	0.03
R0333:Antxr1	UTSW	6	87,165,820 (GRCm39)	splice site	probably benign
R0456:Antxr1	UTSW	6	87,194,257 (GRCm39)	missense	probably damaging	1.00
R0482:Antxr1	UTSW	6	87,246,220 (GRCm39)	splice site	probably null
R4612:Antxr1	UTSW	6	87,265,155 (GRCm39)	missense	probably damaging	1.00
R5269:Antxr1	UTSW	6	87,157,165 (GRCm39)	missense	probably damaging	1.00
R5610:Antxr1	UTSW	6	87,232,845 (GRCm39)	missense	probably damaging	1.00
R5671:Antxr1	UTSW	6	87,194,255 (GRCm39)	critical splice donor site	probably null
R5893:Antxr1	UTSW	6	87,114,241 (GRCm39)	missense	probably benign	0.00
R5925:Antxr1	UTSW	6	87,289,344 (GRCm39)	missense	probably damaging	1.00
R6038:Antxr1	UTSW	6	87,263,982 (GRCm39)	critical splice donor site	probably null
R6658:Antxr1	UTSW	6	87,261,291 (GRCm39)	missense	probably damaging	1.00
R7634:Antxr1	UTSW	6	87,114,273 (GRCm39)	missense	probably benign	0.20
R8103:Antxr1	UTSW	6	87,165,198 (GRCm39)	missense	probably damaging	1.00
R8506:Antxr1	UTSW	6	87,165,155 (GRCm39)	missense	possibly damaging	0.77
R8756:Antxr1	UTSW	6	87,165,235 (GRCm39)	missense	probably damaging	1.00
R9183:Antxr1	UTSW	6	87,264,025 (GRCm39)	missense	probably damaging	1.00
R9296:Antxr1	UTSW	6	87,114,409 (GRCm39)	intron	probably benign
R9688:Antxr1	UTSW	6	87,114,334 (GRCm39)	missense	probably damaging	1.00
R9756:Antxr1	UTSW	6	87,217,936 (GRCm39)	missense	probably benign	0.16

Predicted Primers

Posted On

2017-06-26