Mutagenetix > Incidental Mutation

Incidental Mutation 'R1406:Antxrl'

188748

Institutional Source

Beutler Lab

Gene Symbol

Antxrl

Ensembl Gene

ENSMUSG00000047441

Gene Name

anthrax toxin receptor-like

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1406 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34052707-34076405 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34073042 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 476 (N476D)

Ref Sequence

ENSEMBL: ENSMUSP00000052816 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058725] [ENSMUST00000178958]

AlphaFold

Q8BVM2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000058725
AA Change: N476D

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000052816
Gene: ENSMUSG00000047441
AA Change: N476D

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
VWA	74	248	2.9e-19	SMART
Pfam:Anth_Ig	249	351	6.7e-41	PFAM
low complexity region	370	381	N/A	INTRINSIC
low complexity region	392	461	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000178958

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215823

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap11	T	C	14: 78,512,749	T733A	probably benign	Het
Armc8	G	T	9: 99,523,248	P268Q	probably benign	Het
Asb8	C	A	15: 98,136,423	G84C	probably damaging	Het
BC027072	T	C	17: 71,749,161	N1174D	probably benign	Het
BC035044	A	T	6: 128,885,084		probably null	Het
Caprin1	A	G	2: 103,775,987	F303L	probably benign	Het
Cdh7	G	A	1: 110,061,132	V255I	probably benign	Het
Ctdspl2	G	A	2: 122,006,868	R371Q	probably damaging	Het
Dctn4	T	A	18: 60,556,330	D431E	probably benign	Het
Dhx40	T	C	11: 86,797,745	E284G	probably benign	Het
Dhx9	A	G	1: 153,464,938	V652A	probably damaging	Het
Fnip2	G	T	3: 79,508,091	N213K	possibly damaging	Het
Itch	A	G	2: 155,206,354	E546G	possibly damaging	Het
Map3k20	A	T	2: 72,389,494	I257F	probably damaging	Het
Mdc1	C	T	17: 35,853,532	T1324I	probably benign	Het
Mertk	T	C	2: 128,771,486	I474T	probably benign	Het
Nav3	A	G	10: 109,883,634	V156A	possibly damaging	Het
Nbea	A	G	3: 56,037,281	V554A	probably benign	Het
Olfr1308	A	G	2: 111,960,581	V164A	probably benign	Het
Olfr157	C	T	4: 43,835,582	V303M	possibly damaging	Het
Olfr419	T	A	1: 174,250,861	E22V	possibly damaging	Het
Pask	A	G	1: 93,321,651	Y676H	probably benign	Het
Plpp2	G	A	10: 79,530,777		probably benign	Het
Rab32	A	G	10: 10,550,893	V103A	probably damaging	Het
Rp1	T	C	1: 4,351,921	E262G	possibly damaging	Het
Rtn4	A	G	11: 29,708,236	T797A	probably benign	Het
Sall1	A	T	8: 89,032,444	I344K	probably benign	Het
Scnn1b	T	C	7: 121,902,544		probably null	Het
Sik3	G	T	9: 46,123,345		probably benign	Het
Slc7a2	G	T	8: 40,905,585	G322W	probably damaging	Het
Snx29	A	G	16: 11,399,793	M153V	probably benign	Het
Stk25	A	G	1: 93,625,153		probably benign	Het
Stk4	C	T	2: 164,100,528	T360M	probably benign	Het
Ush1c	A	C	7: 46,225,541		probably null	Het
Vmn2r8	C	T	5: 108,802,368	M204I	probably benign	Het
Zfp839	C	T	12: 110,866,310	T554M	probably damaging	Het

Other mutations in Antxrl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01344:Antxrl	APN	14	34075597	missense	probably benign	0.01
IGL01632:Antxrl	APN	14	34067947	missense	probably damaging	0.99
IGL02379:Antxrl	APN	14	34056535	splice site	probably null
IGL02381:Antxrl	APN	14	34056611	splice site	probably null
IGL02736:Antxrl	APN	14	34056618	unclassified	probably benign
R0631:Antxrl	UTSW	14	34058801	critical splice donor site	probably null
R1190:Antxrl	UTSW	14	34069250	missense	probably benign	0.00
R1406:Antxrl	UTSW	14	34073042	missense	possibly damaging	0.53
R1454:Antxrl	UTSW	14	34060949	missense	probably damaging	0.99
R1469:Antxrl	UTSW	14	34067431	intron	probably benign
R1638:Antxrl	UTSW	14	34070496	critical splice donor site	probably null
R1996:Antxrl	UTSW	14	34075829	missense	probably benign	0.01
R2174:Antxrl	UTSW	14	34060400	missense	probably damaging	1.00
R2421:Antxrl	UTSW	14	34071689	intron	probably benign
R3850:Antxrl	UTSW	14	34067381	missense	probably benign	0.00
R4178:Antxrl	UTSW	14	34054971	splice site	probably null
R4434:Antxrl	UTSW	14	34071617	intron	probably benign
R4603:Antxrl	UTSW	14	34075835	missense	possibly damaging	0.72
R4769:Antxrl	UTSW	14	34073070	missense	possibly damaging	0.53
R6003:Antxrl	UTSW	14	34075635	missense	possibly damaging	0.72
R6047:Antxrl	UTSW	14	34053476	intron	probably benign
R6228:Antxrl	UTSW	14	34056599	missense	probably damaging	1.00
R6363:Antxrl	UTSW	14	34069287	missense	probably damaging	1.00
R6525:Antxrl	UTSW	14	34060406	missense	probably damaging	1.00
R6800:Antxrl	UTSW	14	34065907	missense	probably damaging	1.00
R6933:Antxrl	UTSW	14	34075771	missense	possibly damaging	0.53
R7086:Antxrl	UTSW	14	34065916	missense	probably benign	0.26
R7257:Antxrl	UTSW	14	34065849	missense	probably benign	0.03
R7315:Antxrl	UTSW	14	34071547	missense	unknown
R7981:Antxrl	UTSW	14	34065881	missense	probably damaging	0.99
R9070:Antxrl	UTSW	14	34071714	nonsense	probably null
R9097:Antxrl	UTSW	14	34071703	missense	probably benign	0.33
X0028:Antxrl	UTSW	14	34053915	critical splice donor site	probably null
Z1088:Antxrl	UTSW	14	34067971	missense	probably damaging	1.00
Z1177:Antxrl	UTSW	14	34067930	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TCCAGACACCCAGGTCTTTAGACTG -3'
(R):5'- TGAAGCCCTGCTGAGTTACTGTCC -3'

Sequencing Primer
(F):5'- TTAGACTGGTCTCTCTCTGGAG -3'
(R):5'- ACTTTGTGCCTTGAAGAACCAC -3'

Posted On

2014-05-09