Mutagenetix > Incidental Mutation

Incidental Mutation 'R7812:Oxr1'

601253

Institutional Source

Beutler Lab

Gene Symbol

Oxr1

Ensembl Gene

ENSMUSG00000022307

Gene Name

oxidation resistance 1

Synonyms

2210416C20Rik, C7, C7B

MMRRC Submission

045867-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7812 (G1)

Quality Score

185.009

Status

Not validated

Chromosome

Chromosomal Location

41310878-41724444 bp(+) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to A at 41615138 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1 (M1K)

Ref Sequence

ENSEMBL: ENSMUSP00000155473 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090096] [ENSMUST00000110297] [ENSMUST00000179393] [ENSMUST00000229511] [ENSMUST00000229769] [ENSMUST00000229836] [ENSMUST00000230203]

AlphaFold

Q4KMM3

Predicted Effect

probably benign
Transcript: ENSMUST00000090096

SMART Domains

Protein: ENSMUSP00000087554
Gene: ENSMUSG00000022307

Domain	Start	End	E-Value	Type
LysM	11	54	2.48e-9	SMART
low complexity region	113	120	N/A	INTRINSIC
low complexity region	540	557	N/A	INTRINSIC
TLDc	589	751	1.05e-80	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110297

SMART Domains

Protein: ENSMUSP00000105926
Gene: ENSMUSG00000022307

Domain	Start	End	E-Value	Type
low complexity region	31	45	N/A	INTRINSIC
LysM	99	142	2.48e-9	SMART
low complexity region	201	208	N/A	INTRINSIC
low complexity region	628	645	N/A	INTRINSIC
TLDc	704	866	1.05e-80	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000179393

SMART Domains

Protein: ENSMUSP00000136923
Gene: ENSMUSG00000022307

Domain	Start	End	E-Value	Type
LysM	11	54	2.48e-9	SMART
low complexity region	113	120	N/A	INTRINSIC
low complexity region	540	557	N/A	INTRINSIC
TLDc	589	751	1.05e-80	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000229511

Predicted Effect

probably benign
Transcript: ENSMUST00000229769

Predicted Effect

probably null
Transcript: ENSMUST00000229836
AA Change: M1K

Predicted Effect

probably benign
Transcript: ENSMUST00000230203

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous mutation of this gene results in progressive cerebellar neurodegeneration and ataxia, increased apoptosis in the cerebellar granule cell layer, and premature death. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	C	A	9: 57,165,141 (GRCm39)	C411F	probably damaging	Het
Abhd17c	G	T	7: 83,800,624 (GRCm39)	Y143*	probably null	Het
Acad11	T	G	9: 103,972,747 (GRCm39)	L480R	probably benign	Het
Acad8	A	T	9: 26,890,476 (GRCm39)	N277K	probably damaging	Het
Adcy10	A	G	1: 165,342,938 (GRCm39)	Y268C	probably damaging	Het
Adm2	A	T	15: 89,208,367 (GRCm39)	R102S	possibly damaging	Het
Ambra1	A	T	2: 91,596,911 (GRCm39)	M1L	probably benign	Het
Angpt2	T	C	8: 18,742,161 (GRCm39)	N465S	probably benign	Het
Arhgap17	T	C	7: 122,879,290 (GRCm39)	I820M	unknown	Het
Atf7ip	G	A	6: 136,580,415 (GRCm39)	R1113Q	probably damaging	Het
Atp5pb	A	G	3: 105,851,157 (GRCm39)	V180A	probably benign	Het
Auts2	C	T	5: 131,501,284 (GRCm39)	R43H		Het
Cacna1g	A	T	11: 94,334,880 (GRCm39)	I809N	probably benign	Het
Cand1	A	T	10: 119,053,864 (GRCm39)	M158K	probably benign	Het
Cars1	T	A	7: 143,123,784 (GRCm39)	I500F	probably damaging	Het
Ccdc18	T	A	5: 108,328,699 (GRCm39)	M706K	probably benign	Het
Ccdc180	G	A	4: 45,906,952 (GRCm39)		probably null	Het
Ces1f	A	G	8: 93,984,938 (GRCm39)	V463A	probably benign	Het
Cndp1	G	T	18: 84,655,994 (GRCm39)	D58E	probably benign	Het
Csnk2b	A	T	17: 35,339,431 (GRCm39)	F21Y	probably benign	Het
Dgkg	C	G	16: 22,385,165 (GRCm39)	R447T	probably damaging	Het
Dnajc12	A	G	10: 63,242,905 (GRCm39)	D141G	probably benign	Het
Edar	A	G	10: 58,465,926 (GRCm39)	V4A	probably benign	Het
Elf1	A	G	14: 79,802,998 (GRCm39)	D117G	probably damaging	Het
Fam124b	T	C	1: 80,191,351 (GRCm39)	T11A	probably damaging	Het
Fgl2	C	A	5: 21,577,896 (GRCm39)	T61K	probably benign	Het
Furin	T	C	7: 80,045,722 (GRCm39)	N218S	possibly damaging	Het
Gcn1	T	A	5: 115,731,751 (GRCm39)	H955Q	possibly damaging	Het
Gucy2e	A	G	11: 69,117,069 (GRCm39)	I784T	probably damaging	Het
Ice1	T	A	13: 70,751,124 (GRCm39)	Q1654L	possibly damaging	Het
Klhl28	T	C	12: 64,990,363 (GRCm39)	N526S	possibly damaging	Het
Ldlrad4	C	A	18: 68,239,742 (GRCm39)	P54Q	probably benign	Het
Lsm14a	A	G	7: 34,088,301 (GRCm39)		probably benign	Het
Mdga1	A	G	17: 30,062,115 (GRCm39)	V438A	probably benign	Het
Mrto4	A	G	4: 139,075,278 (GRCm39)	V175A	possibly damaging	Het
Nav2	T	G	7: 49,246,921 (GRCm39)	S2149A	probably benign	Het
Nr4a2	A	G	2: 57,002,430 (GRCm39)	Y8H	probably damaging	Het
Or10q12	T	C	19: 13,746,380 (GRCm39)	F225L	probably benign	Het
Or1j12	T	A	2: 36,343,290 (GRCm39)	I231N	probably benign	Het
Or1j18	A	T	2: 36,624,737 (GRCm39)	M135L	probably benign	Het
Or52e4	T	C	7: 104,705,894 (GRCm39)	L147P	possibly damaging	Het
Pbx3	T	C	2: 34,114,478 (GRCm39)	Y152C	probably damaging	Het
Pcdhb13	T	A	18: 37,575,645 (GRCm39)	C8S	probably benign	Het
Polr1c	G	A	17: 46,557,053 (GRCm39)	R77W	probably damaging	Het
Psg25	A	T	7: 18,255,093 (GRCm39)	N474K	possibly damaging	Het
Ralgapa1	T	A	12: 55,766,413 (GRCm39)	M838L	possibly damaging	Het
Ranbp2	A	G	10: 58,303,224 (GRCm39)	T799A	probably benign	Het
Sbf2	C	T	7: 110,049,170 (GRCm39)	V265I	possibly damaging	Het
Scarf2	G	A	16: 17,621,692 (GRCm39)	G381R	probably damaging	Het
Shprh	A	G	10: 11,027,735 (GRCm39)	Q114R	probably benign	Het
Sipa1l2	A	C	8: 126,218,334 (GRCm39)	D334E	probably damaging	Het
Slc26a4	T	A	12: 31,594,449 (GRCm39)	I300F	probably damaging	Het
Sox7	C	T	14: 64,185,681 (GRCm39)	T239I	probably benign	Het
Sry	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	Y: 2,662,638 (GRCm39)		probably benign	Het
St6galnac1	G	T	11: 116,659,927 (GRCm39)	H129N	probably benign	Het
Stxbp4	A	G	11: 90,485,654 (GRCm39)	L231P	probably damaging	Het
Syngap1	A	C	17: 27,160,478 (GRCm39)	Y18S	probably benign	Het
Tenm3	T	C	8: 48,729,335 (GRCm39)	Y1557C	probably benign	Het
Trim44	G	T	2: 102,230,489 (GRCm39)	P181T	possibly damaging	Het
Trp53i13	A	T	11: 77,399,666 (GRCm39)	V221D	possibly damaging	Het
Trpm7	A	G	2: 126,641,236 (GRCm39)	S1554P	probably damaging	Het
Vcl	A	G	14: 21,045,158 (GRCm39)	N288D	probably benign	Het
Vmn2r59	A	T	7: 41,695,196 (GRCm39)	Y405*	probably null	Het
Vps35	T	C	8: 86,010,818 (GRCm39)	D175G	probably benign	Het
Wdr90	A	T	17: 26,071,532 (GRCm39)	L949Q	probably damaging	Het
Wwp1	G	A	4: 19,639,991 (GRCm39)	T517I	probably damaging	Het
Zfp462	T	G	4: 55,008,509 (GRCm39)	F158L	probably benign	Het
Zfp703	T	A	8: 27,469,906 (GRCm39)	H523Q	probably damaging	Het

Other mutations in Oxr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00913:Oxr1	APN	15	41,683,539 (GRCm39)	missense	possibly damaging	0.46
IGL02243:Oxr1	APN	15	41,399,097 (GRCm39)	utr 5 prime	probably benign
IGL02711:Oxr1	APN	15	41,517,067 (GRCm39)	splice site	probably benign
IGL02810:Oxr1	APN	15	41,676,979 (GRCm39)	missense	probably benign	0.26
IGL02850:Oxr1	APN	15	41,718,329 (GRCm39)	missense	probably damaging	1.00
IGL03028:Oxr1	APN	15	41,680,559 (GRCm39)	missense	probably damaging	1.00
IGL03126:Oxr1	APN	15	41,683,645 (GRCm39)	missense	possibly damaging	0.66
PIT4378001:Oxr1	UTSW	15	41,664,978 (GRCm39)	missense	probably benign	0.01
R0004:Oxr1	UTSW	15	41,683,936 (GRCm39)	missense	possibly damaging	0.64
R0276:Oxr1	UTSW	15	41,683,458 (GRCm39)	missense	probably damaging	1.00
R0394:Oxr1	UTSW	15	41,680,593 (GRCm39)	missense	probably damaging	1.00
R1513:Oxr1	UTSW	15	41,660,870 (GRCm39)	missense	probably damaging	1.00
R1742:Oxr1	UTSW	15	41,713,955 (GRCm39)	missense	probably damaging	1.00
R2145:Oxr1	UTSW	15	41,683,340 (GRCm39)	missense	probably damaging	1.00
R2924:Oxr1	UTSW	15	41,689,353 (GRCm39)	missense	probably benign	0.01
R3732:Oxr1	UTSW	15	41,712,097 (GRCm39)	missense	probably damaging	1.00
R4537:Oxr1	UTSW	15	41,683,915 (GRCm39)	missense	possibly damaging	0.67
R4722:Oxr1	UTSW	15	41,677,045 (GRCm39)	missense	probably damaging	1.00
R4935:Oxr1	UTSW	15	41,676,980 (GRCm39)	missense	probably benign	0.00
R5417:Oxr1	UTSW	15	41,683,767 (GRCm39)	missense	probably benign	0.00
R6029:Oxr1	UTSW	15	41,689,297 (GRCm39)	missense	probably damaging	1.00
R6187:Oxr1	UTSW	15	41,689,315 (GRCm39)	missense	probably damaging	1.00
R6864:Oxr1	UTSW	15	41,686,783 (GRCm39)	missense	probably damaging	1.00
R6950:Oxr1	UTSW	15	41,683,951 (GRCm39)	missense	probably benign	0.00
R7225:Oxr1	UTSW	15	41,677,004 (GRCm39)	missense	not run
R7288:Oxr1	UTSW	15	41,677,004 (GRCm39)	missense	not run
R7305:Oxr1	UTSW	15	41,677,004 (GRCm39)	missense	not run
R7575:Oxr1	UTSW	15	41,686,758 (GRCm39)	missense	possibly damaging	0.80
R7729:Oxr1	UTSW	15	41,686,863 (GRCm39)	missense	probably damaging	1.00
R7764:Oxr1	UTSW	15	41,683,263 (GRCm39)	missense	probably benign
R7910:Oxr1	UTSW	15	41,517,030 (GRCm39)	missense	possibly damaging	0.78
R8749:Oxr1	UTSW	15	41,574,260 (GRCm39)	missense	probably benign
R9024:Oxr1	UTSW	15	41,694,518 (GRCm39)	missense	probably damaging	0.97
R9032:Oxr1	UTSW	15	41,718,317 (GRCm39)	missense	probably benign	0.03
R9306:Oxr1	UTSW	15	41,686,861 (GRCm39)	missense	possibly damaging	0.76
X0025:Oxr1	UTSW	15	41,683,848 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCGTGAGTTTTACATATTGCCACC -3'
(R):5'- TTTCTGACAACACACCTTCAGC -3'

Sequencing Primer
(F):5'- ATATTGCCACCAGAGCTCAGGG -3'
(R):5'- CAATAGGATCTGCTCTGTCCTGG -3'

Posted On

2019-11-26