Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02415:Xrra1'

292394

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Xrra1

Ensembl Gene

ENSMUSG00000035211

Gene Name

X-ray radiation resistance associated 1

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

IGL02415

Quality Score

Status

Chromosome

Chromosomal Location

99508425-99567031 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 99565150 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 573 (E573K)

Ref Sequence

ENSEMBL: ENSMUSP00000035929 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036155] [ENSMUST00000080817]

AlphaFold

Q3U3V8

Predicted Effect

probably benign
Transcript: ENSMUST00000036155
AA Change: E573K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000035929
Gene: ENSMUSG00000035211
AA Change: E573K

Domain	Start	End	E-Value	Type
low complexity region	41	52	N/A	INTRINSIC
Blast:LRR	144	168	4e-6	BLAST
LRR	191	214	2.02e-1	SMART
LRR	232	253	1.67e2	SMART
LRR	257	278	6.41e1	SMART
LRR	371	398	4.09e1	SMART
low complexity region	748	756	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000080817

SMART Domains

Protein: ENSMUSP00000079631
Gene: ENSMUSG00000058761

Domain	Start	End	E-Value	Type
low complexity region	2	27	N/A	INTRINSIC
low complexity region	32	46	N/A	INTRINSIC
RING	61	96	3.16e-1	SMART
Blast:RING	133	176	7e-8	BLAST
low complexity region	302	314	N/A	INTRINSIC
low complexity region	649	661	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208270

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208449

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059G10Rik	T	C	9: 122,777,056 (GRCm39)	D124G	probably benign	Het
Adamts13	T	A	2: 26,879,295 (GRCm39)	I616N	possibly damaging	Het
Adamts3	T	C	5: 89,854,506 (GRCm39)		probably null	Het
Amy1	T	C	3: 113,357,234 (GRCm39)	I202V	probably benign	Het
Bdp1	G	A	13: 100,225,916 (GRCm39)	T322I	probably damaging	Het
Cep295	A	G	9: 15,264,316 (GRCm39)	L110S	probably damaging	Het
Cep72	T	C	13: 74,198,273 (GRCm39)	D369G	probably benign	Het
Chd3	A	T	11: 69,239,739 (GRCm39)		probably benign	Het
Ckmt2	G	A	13: 92,011,459 (GRCm39)		probably benign	Het
Cyp2s1	T	C	7: 25,507,562 (GRCm39)	T296A	probably damaging	Het
E2f5	T	A	3: 14,668,957 (GRCm39)	V283E	probably benign	Het
Eeig2	A	G	3: 108,887,608 (GRCm39)	Y219H	probably damaging	Het
F5	A	G	1: 164,019,498 (GRCm39)	T658A	probably damaging	Het
Gml	A	T	15: 74,688,289 (GRCm39)	Y59*	probably null	Het
Kmo	A	T	1: 175,476,889 (GRCm39)		probably benign	Het
Krt25	A	T	11: 99,213,398 (GRCm39)	I107N	probably damaging	Het
Llgl2	A	G	11: 115,744,111 (GRCm39)	M773V	probably damaging	Het
Lyst	G	A	13: 13,835,541 (GRCm39)	C1741Y	probably benign	Het
Med12	T	C	X: 100,325,396 (GRCm39)	V761A	probably damaging	Het
Mrpl19	T	C	6: 81,940,942 (GRCm39)	T150A	probably benign	Het
Muc2	G	T	7: 141,305,609 (GRCm39)	E646*	probably null	Het
Muc20	T	A	16: 32,615,051 (GRCm39)	T109S	unknown	Het
Nr2f6	T	C	8: 71,827,156 (GRCm39)	T382A	probably benign	Het
Nrap	A	G	19: 56,370,741 (GRCm39)	I172T	probably damaging	Het
Or5an1	A	G	19: 12,260,862 (GRCm39)	Y150C	probably benign	Het
Or8b47	T	C	9: 38,435,408 (GRCm39)	C127R	probably benign	Het
P3h1	A	T	4: 119,105,152 (GRCm39)	Q710L	probably benign	Het
Parvb	A	G	15: 84,177,016 (GRCm39)	H185R	probably damaging	Het
Pkhd1	A	G	1: 20,484,645 (GRCm39)	I1970T	probably damaging	Het
Pkhd1	T	C	1: 20,592,983 (GRCm39)	Y1710C	probably damaging	Het
Plxna2	C	A	1: 194,326,272 (GRCm39)	R69S	probably damaging	Het
Rad51ap2	A	G	12: 11,506,930 (GRCm39)	N284S	possibly damaging	Het
Reln	T	A	5: 22,176,949 (GRCm39)	S1906C	possibly damaging	Het
Rln1	T	C	19: 29,311,798 (GRCm39)	R67G	probably damaging	Het
Shcbp1	C	T	8: 4,804,239 (GRCm39)	V224I	possibly damaging	Het
Slc13a4	A	G	6: 35,260,172 (GRCm39)		probably null	Het
Stx6	A	G	1: 155,069,059 (GRCm39)	E195G	possibly damaging	Het
Sult2b1	G	T	7: 45,391,509 (GRCm39)	D90E	possibly damaging	Het
Taok1	A	G	11: 77,431,066 (GRCm39)		probably benign	Het
Tbx15	A	T	3: 99,259,826 (GRCm39)	M566L	probably benign	Het
Tcaf1	C	T	6: 42,663,584 (GRCm39)	A99T	probably benign	Het
Tcf20	T	A	15: 82,737,660 (GRCm39)	M1264L	probably benign	Het
Tenm4	G	A	7: 96,523,281 (GRCm39)	V1571M	probably damaging	Het
Ttc39a	A	G	4: 109,288,726 (GRCm39)		probably benign	Het
Ubr1	C	A	2: 120,801,084 (GRCm39)		probably benign	Het
Ulk1	T	C	5: 110,935,487 (GRCm39)	D926G	probably damaging	Het
Vmn2r110	T	C	17: 20,804,033 (GRCm39)	I181V	probably benign	Het
Vmn2r66	G	A	7: 84,656,020 (GRCm39)	T332I	probably damaging	Het
Wdr1	C	A	5: 38,688,453 (GRCm39)	D161Y	probably damaging	Het
Wnt7a	T	C	6: 91,371,539 (GRCm39)	Y141C	probably damaging	Het
Zfp334	G	T	2: 165,223,771 (GRCm39)	Q91K	possibly damaging	Het

Other mutations in Xrra1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01782:Xrra1	APN	7	99,524,401 (GRCm39)	missense	possibly damaging	0.76
IGL01938:Xrra1	APN	7	99,528,676 (GRCm39)	critical splice donor site	probably null
IGL02064:Xrra1	APN	7	99,563,411 (GRCm39)	missense	probably damaging	1.00
IGL02286:Xrra1	APN	7	99,563,434 (GRCm39)	missense	possibly damaging	0.62
R0332:Xrra1	UTSW	7	99,525,449 (GRCm39)	missense	probably damaging	1.00
R0465:Xrra1	UTSW	7	99,528,578 (GRCm39)	missense	probably benign	0.00
R0533:Xrra1	UTSW	7	99,524,352 (GRCm39)	splice site	probably null
R0601:Xrra1	UTSW	7	99,560,175 (GRCm39)	missense	possibly damaging	0.95
R1539:Xrra1	UTSW	7	99,520,564 (GRCm39)	missense	probably damaging	1.00
R1672:Xrra1	UTSW	7	99,547,647 (GRCm39)	missense	probably benign	0.00
R1687:Xrra1	UTSW	7	99,525,451 (GRCm39)	missense	probably damaging	1.00
R1962:Xrra1	UTSW	7	99,560,227 (GRCm39)	missense	probably damaging	1.00
R2504:Xrra1	UTSW	7	99,546,803 (GRCm39)	missense	probably damaging	1.00
R4765:Xrra1	UTSW	7	99,555,775 (GRCm39)	missense	probably benign	0.19
R4967:Xrra1	UTSW	7	99,555,730 (GRCm39)	missense	probably damaging	0.99
R5213:Xrra1	UTSW	7	99,547,690 (GRCm39)	missense	possibly damaging	0.47
R5663:Xrra1	UTSW	7	99,535,250 (GRCm39)	missense	probably damaging	1.00
R5986:Xrra1	UTSW	7	99,525,462 (GRCm39)	missense	probably benign	0.40
R6256:Xrra1	UTSW	7	99,563,671 (GRCm39)	missense	probably damaging	0.99
R6269:Xrra1	UTSW	7	99,566,679 (GRCm39)	missense	probably damaging	1.00
R7234:Xrra1	UTSW	7	99,563,456 (GRCm39)	missense	possibly damaging	0.49
R7316:Xrra1	UTSW	7	99,525,423 (GRCm39)	critical splice acceptor site	probably null
R7655:Xrra1	UTSW	7	99,560,189 (GRCm39)	missense	probably benign	0.10
R7656:Xrra1	UTSW	7	99,560,189 (GRCm39)	missense	probably benign	0.10
R8688:Xrra1	UTSW	7	99,555,752 (GRCm39)	missense	probably damaging	1.00
R8788:Xrra1	UTSW	7	99,555,761 (GRCm39)	missense	probably benign	0.02
R9016:Xrra1	UTSW	7	99,525,462 (GRCm39)	missense	probably benign	0.11
R9196:Xrra1	UTSW	7	99,563,699 (GRCm39)	critical splice donor site	probably null
R9233:Xrra1	UTSW	7	99,516,574 (GRCm39)	missense	probably benign
R9545:Xrra1	UTSW	7	99,535,334 (GRCm39)	missense	possibly damaging	0.46
R9641:Xrra1	UTSW	7	99,561,088 (GRCm39)	missense	probably benign	0.05
R9742:Xrra1	UTSW	7	99,563,660 (GRCm39)	missense	probably benign	0.40
X0017:Xrra1	UTSW	7	99,565,307 (GRCm39)	missense	probably damaging	1.00
X0021:Xrra1	UTSW	7	99,547,693 (GRCm39)	missense	possibly damaging	0.63

Posted On

2015-04-16