Mutagenetix > Incidental Mutation

Incidental Mutation 'R6363:Antxrl'

512602

Institutional Source

Beutler Lab

Gene Symbol

Antxrl

Ensembl Gene

ENSMUSG00000047441

Gene Name

anthrax toxin receptor-like

Synonyms

1700112N15Rik

MMRRC Submission

044513-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6363 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

33774625-33798280 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 33791244 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 379 (C379F)

Ref Sequence

ENSEMBL: ENSMUSP00000052816 (fasta)

Gene Model

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

AlphaFold

Q8BVM2

Predicted Effect

probably damaging
Transcript: ENSMUST00000058725
AA Change: C379F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000052816
Gene: ENSMUSG00000047441
AA Change: C379F

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

Meta Mutation Damage Score

0.2794

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.9%

Validation Efficiency

98% (51/52)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl4	A	G	4: 111,423,982 (GRCm39)		probably benign	Het
Camsap3	T	C	8: 3,651,971 (GRCm39)	C256R	probably damaging	Het
Ccdc33	T	C	9: 58,021,618 (GRCm39)	E254G	probably benign	Het
Ccndbp1	C	T	2: 120,843,454 (GRCm39)	P282L	probably damaging	Het
Col5a1	C	T	2: 27,818,207 (GRCm39)	T144I	unknown	Het
Csmd2	A	T	4: 128,294,172 (GRCm39)	H1167L	probably benign	Het
Ctsk	A	T	3: 95,408,862 (GRCm39)	T82S	probably damaging	Het
Cyp3a41b	A	T	5: 145,507,197 (GRCm39)	F248I	probably damaging	Het
Dchs1	A	G	7: 105,407,679 (GRCm39)	I2051T	probably benign	Het
Dnah17	A	G	11: 118,001,331 (GRCm39)	F871L	probably benign	Het
Eif2b4	A	G	5: 31,348,583 (GRCm39)	V210A	probably damaging	Het
Eral1	A	G	11: 77,965,143 (GRCm39)	I385T	probably damaging	Het
Ercc8	T	C	13: 108,320,404 (GRCm39)	L330P	probably damaging	Het
Etfa	A	G	9: 55,407,417 (GRCm39)	V24A	probably damaging	Het
Fcrl1	A	T	3: 87,292,475 (GRCm39)	I156F	probably damaging	Het
Gm7298	A	G	6: 121,765,565 (GRCm39)	Y1465C	probably damaging	Het
Gpr17	A	G	18: 32,080,625 (GRCm39)	L146P	probably damaging	Het
Gpr171	A	G	3: 59,005,313 (GRCm39)	I154T	possibly damaging	Het
Hid1	T	A	11: 115,243,422 (GRCm39)	Y542F	probably damaging	Het
Hspa8	T	C	9: 40,714,361 (GRCm39)	V219A	probably damaging	Het
Klhl24	C	T	16: 19,938,933 (GRCm39)	T496I	possibly damaging	Het
Krtcap2	T	C	3: 89,156,413 (GRCm39)	S64P	probably damaging	Het
Msh3	C	A	13: 92,349,032 (GRCm39)	D1066Y	probably damaging	Het
Naaladl2	C	T	3: 24,389,481 (GRCm39)	G323R	possibly damaging	Het
Nbas	A	G	12: 13,532,577 (GRCm39)	T1762A	probably benign	Het
Nr4a1	C	T	15: 101,171,996 (GRCm39)	R557C	probably damaging	Het
Ogfrl1	T	A	1: 23,409,194 (GRCm39)	H344L	probably benign	Het
Or13a25	T	A	7: 140,247,995 (GRCm39)	F265Y	possibly damaging	Het
Or5a1	T	A	19: 12,097,530 (GRCm39)	H182L	possibly damaging	Het
Or5p55	A	G	7: 107,566,957 (GRCm39)	M118V	possibly damaging	Het
Or9k7	A	C	10: 130,046,906 (GRCm39)	V31G	possibly damaging	Het
Orm2	G	A	4: 63,280,841 (GRCm39)		probably null	Het
Patj	T	A	4: 98,320,097 (GRCm39)	S455T	probably benign	Het
Pdgfra	G	T	5: 75,331,497 (GRCm39)	V336L	possibly damaging	Het
Prkaa1	T	C	15: 5,206,437 (GRCm39)	L431S	probably damaging	Het
Ptgfrn	A	G	3: 100,952,894 (GRCm39)	V780A	possibly damaging	Het
Rb1	A	T	14: 73,525,081 (GRCm39)	V184E	probably benign	Het
Rev1	T	A	1: 38,110,570 (GRCm39)	H560L	probably damaging	Het
Serpinb13	A	T	1: 106,928,504 (GRCm39)	R375*	probably null	Het
Slc8a2	C	A	7: 15,867,970 (GRCm39)	D67E	probably benign	Het
Sos2	A	T	12: 69,678,885 (GRCm39)	N307K	probably benign	Het
Srgap2	G	A	1: 131,226,206 (GRCm39)	R36W	probably damaging	Het
Tas2r119	G	T	15: 32,178,034 (GRCm39)	W200L	possibly damaging	Het
Tep1	T	G	14: 51,062,005 (GRCm39)	K2575T	probably benign	Het
Ttc36	T	A	9: 44,710,936 (GRCm39)	R131S	probably damaging	Het
Ttyh3	A	T	5: 140,620,979 (GRCm39)	L195Q	probably damaging	Het
Uba7	G	A	9: 107,857,382 (GRCm39)		probably null	Het
Utp20	A	C	10: 88,592,942 (GRCm39)	V2249G	probably damaging	Het
Wwc2	A	T	8: 48,340,197 (GRCm39)		probably null	Het
Zdhhc21	A	T	4: 82,765,911 (GRCm39)	V8D	probably damaging	Het
Zfp719	A	G	7: 43,239,290 (GRCm39)	T293A	probably benign	Het

Other mutations in Antxrl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01344:Antxrl	APN	14	33,797,554 (GRCm39)	missense	probably benign	0.01
IGL01632:Antxrl	APN	14	33,789,904 (GRCm39)	missense	probably damaging	0.99
IGL02379:Antxrl	APN	14	33,778,492 (GRCm39)	splice site	probably null
IGL02381:Antxrl	APN	14	33,778,568 (GRCm39)	splice site	probably null
IGL02736:Antxrl	APN	14	33,778,575 (GRCm39)	unclassified	probably benign
R0631:Antxrl	UTSW	14	33,780,758 (GRCm39)	critical splice donor site	probably null
R1190:Antxrl	UTSW	14	33,791,207 (GRCm39)	missense	probably benign	0.00
R1406:Antxrl	UTSW	14	33,794,999 (GRCm39)	missense	possibly damaging	0.53
R1406:Antxrl	UTSW	14	33,794,999 (GRCm39)	missense	possibly damaging	0.53
R1454:Antxrl	UTSW	14	33,782,906 (GRCm39)	missense	probably damaging	0.99
R1469:Antxrl	UTSW	14	33,789,388 (GRCm39)	intron	probably benign
R1638:Antxrl	UTSW	14	33,792,453 (GRCm39)	critical splice donor site	probably null
R1996:Antxrl	UTSW	14	33,797,786 (GRCm39)	missense	probably benign	0.01
R2174:Antxrl	UTSW	14	33,782,357 (GRCm39)	missense	probably damaging	1.00
R2421:Antxrl	UTSW	14	33,793,646 (GRCm39)	intron	probably benign
R3850:Antxrl	UTSW	14	33,789,338 (GRCm39)	missense	probably benign	0.00
R4178:Antxrl	UTSW	14	33,776,928 (GRCm39)	splice site	probably null
R4434:Antxrl	UTSW	14	33,793,574 (GRCm39)	intron	probably benign
R4603:Antxrl	UTSW	14	33,797,792 (GRCm39)	missense	possibly damaging	0.72
R4769:Antxrl	UTSW	14	33,795,027 (GRCm39)	missense	possibly damaging	0.53
R6003:Antxrl	UTSW	14	33,797,592 (GRCm39)	missense	possibly damaging	0.72
R6047:Antxrl	UTSW	14	33,775,433 (GRCm39)	intron	probably benign
R6228:Antxrl	UTSW	14	33,778,556 (GRCm39)	missense	probably damaging	1.00
R6525:Antxrl	UTSW	14	33,782,363 (GRCm39)	missense	probably damaging	1.00
R6800:Antxrl	UTSW	14	33,787,864 (GRCm39)	missense	probably damaging	1.00
R6933:Antxrl	UTSW	14	33,797,728 (GRCm39)	missense	possibly damaging	0.53
R7086:Antxrl	UTSW	14	33,787,873 (GRCm39)	missense	probably benign	0.26
R7257:Antxrl	UTSW	14	33,787,806 (GRCm39)	missense	probably benign	0.03
R7315:Antxrl	UTSW	14	33,793,504 (GRCm39)	missense	unknown
R7981:Antxrl	UTSW	14	33,787,838 (GRCm39)	missense	probably damaging	0.99
R9070:Antxrl	UTSW	14	33,793,671 (GRCm39)	nonsense	probably null
R9097:Antxrl	UTSW	14	33,793,660 (GRCm39)	missense	probably benign	0.33
X0028:Antxrl	UTSW	14	33,775,872 (GRCm39)	critical splice donor site	probably null
Z1088:Antxrl	UTSW	14	33,789,928 (GRCm39)	missense	probably damaging	1.00
Z1177:Antxrl	UTSW	14	33,789,887 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TCAGCCACAGGGAAGTACAG -3'
(R):5'- AAGAGTTTGTGCCTCCCCTG -3'

Sequencing Primer
(F):5'- CAGGGAAGTACAGCCACAGATAC -3'
(R):5'- TGTGCCTCCCCTGGATGATG -3'

Posted On

2018-04-27