Mutagenetix > Incidental Mutations

Incidental Mutation 'R1454:Antxrl'

162223

Institutional Source

Beutler Lab

Gene Symbol

Antxrl

Ensembl Gene

ENSMUSG00000047441

Gene Name

anthrax toxin receptor-like

Synonyms

MMRRC Submission

039509-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1454 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34052707-34076405 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 34060949 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 233 (V233I)

Ref Sequence

ENSEMBL: ENSMUSP00000052816 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058725] [ENSMUST00000178958] [ENSMUST00000226211]

Predicted Effect

probably damaging
Transcript: ENSMUST00000058725
AA Change: V233I

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000052816
Gene: ENSMUSG00000047441
AA Change: V233I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000226211

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.2%
20x: 89.2%

Validation Efficiency

97% (58/60)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts5	A	G	16: 85,869,993	V537A	possibly damaging	Het
Adcy10	A	T	1: 165,515,380	I272F	possibly damaging	Het
Adcy6	A	G	15: 98,604,728	S2P	probably damaging	Het
Agap1	A	G	1: 89,837,806		probably null	Het
Aldh3a2	A	G	11: 61,265,102	V116A	probably benign	Het
Ankdd1b	A	T	13: 96,433,405		probably null	Het
Atp8b5	A	G	4: 43,302,590	I38V	probably benign	Het
Atxn7l2	A	G	3: 108,208,432		probably benign	Het
Bfsp2	A	T	9: 103,480,225	M1K	probably null	Het
Camsap3	T	A	8: 3,603,968	I520N	possibly damaging	Het
Cenpc1	C	T	5: 86,013,510	V854I	possibly damaging	Het
Csnk2a1	T	C	2: 152,257,427	L88S	probably damaging	Het
Dcaf17	A	G	2: 71,073,173	N171D	probably damaging	Het
Dctn1	G	C	6: 83,197,508	A1077P	possibly damaging	Het
Dock1	T	C	7: 134,851,609		probably benign	Het
Egfr	A	T	11: 16,889,920	I645L	probably benign	Het
Gdpd1	T	G	11: 87,059,509	K79N	possibly damaging	Het
Ggt5	A	T	10: 75,609,908	L432F	probably benign	Het
Gm11060	A	G	2: 105,093,752	T22A	unknown	Het
Gpr132	G	A	12: 112,852,240	T322I	possibly damaging	Het
Grin1	G	A	2: 25,292,430	R940*	probably null	Het
Hip1	T	C	5: 135,438,632	T316A	probably benign	Het
Hnrnpm	A	G	17: 33,666,488		probably benign	Het
Hsd3b5	G	A	3: 98,619,530	T200I	probably benign	Het
Hspa9	A	T	18: 34,938,606	L647H	probably damaging	Het
Itgad	T	C	7: 128,192,137	I727T	probably benign	Het
Kcnma1	T	C	14: 23,463,200	D522G	probably damaging	Het
Lipf	C	T	19: 33,970,732		probably benign	Het
Ly6i	T	C	15: 74,983,055	D2G	possibly damaging	Het
Mast1	G	A	8: 84,920,635	P631L	probably damaging	Het
Mmp1b	G	C	9: 7,386,693	L144V	probably damaging	Het
Msh6	A	G	17: 87,984,758	S314G	probably benign	Het
Myo5c	G	A	9: 75,263,066	V493I	possibly damaging	Het
Nefm	A	G	14: 68,121,379	L402P	probably damaging	Het
Nrxn2	T	C	19: 6,481,446	F697S	probably damaging	Het
Olfr156	A	T	4: 43,820,639	C241S	probably damaging	Het
Pex13	A	G	11: 23,649,422	I363T	probably benign	Het
Plcb3	T	C	19: 6,955,046	R1082G	possibly damaging	Het
Psg28	A	T	7: 18,427,964	S205T	possibly damaging	Het
Pxt1	C	A	17: 28,934,782	V26L	possibly damaging	Het
Ripk2	G	A	4: 16,163,239	T53M	probably damaging	Het
Slc5a9	A	G	4: 111,883,964	V495A	probably benign	Het
Snrpa	T	C	7: 27,192,937	K66R	probably benign	Het
Srgap1	T	A	10: 121,896,738	E145V	probably damaging	Het
Suz12	A	G	11: 80,032,113	T694A	probably benign	Het
Tatdn2	T	A	6: 113,704,327	D440E	probably benign	Het
Tbc1d21	A	G	9: 58,362,813		probably null	Het
Tbc1d31	T	A	15: 57,951,638	Y570*	probably null	Het
Tbc1d32	A	T	10: 56,177,479		probably benign	Het
Tdrd5	G	C	1: 156,259,836	Q839E	probably benign	Het
Tecpr2	A	G	12: 110,968,953	N1402S	probably benign	Het
Thbs1	A	G	2: 118,122,672	D921G	probably damaging	Het
Tll1	A	G	8: 64,038,490	V803A	probably benign	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Trappc9	G	A	15: 73,025,967	R377W	probably damaging	Het
Trpm4	T	C	7: 45,317,056	E461G	probably damaging	Het
Zp3	T	A	5: 135,984,188	I152N	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
R1406:Antxrl	UTSW	14	34073042	missense	possibly damaging	0.53
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
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'- GTAAGCGAACCCCTTATGCAGAGTG -3'
(R):5'- TGCACAAACGTAGGTAGGCTGCAC -3'

Sequencing Primer
(F):5'- GGCCAGAGAGTTTCCCATTC -3'
(R):5'- Tgagagagagagagagagagagag -3'

Posted On

2014-03-14