Mutagenetix > Incidental Mutation

Incidental Mutation 'R6029:Oxr1'

480288

Institutional Source

Beutler Lab

Gene Symbol

Oxr1

Ensembl Gene

ENSMUSG00000022307

Gene Name

oxidation resistance 1

Synonyms

2210416C20Rik, C7, C7B

MMRRC Submission

044201-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6029 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

41310878-41724444 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 41689297 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Tryptophan at position 507 (L507W)

Ref Sequence

ENSEMBL: ENSMUSP00000155161 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022918] [ENSMUST00000090095] [ENSMUST00000090096] [ENSMUST00000110297] [ENSMUST00000170127] [ENSMUST00000179393] [ENSMUST00000230203] [ENSMUST00000230778]

AlphaFold

Q4KMM3

Predicted Effect

probably damaging
Transcript: ENSMUST00000022918
AA Change: L507W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000022918
Gene: ENSMUSG00000022307
AA Change: L507W

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	616	778	1.05e-80	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000090095
AA Change: L507W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000087553
Gene: ENSMUSG00000022307
AA Change: L507W

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 damaging
Transcript: ENSMUST00000090096
AA Change: L507W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000087554
Gene: ENSMUSG00000022307
AA Change: L507W

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 damaging
Transcript: ENSMUST00000110297
AA Change: L595W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105926
Gene: ENSMUSG00000022307
AA Change: L595W

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 damaging
Transcript: ENSMUST00000170127
AA Change: L588W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000126266
Gene: ENSMUSG00000022307
AA Change: L588W

Domain	Start	End	E-Value	Type
LysM	92	135	2.48e-9	SMART
low complexity region	194	201	N/A	INTRINSIC
low complexity region	621	638	N/A	INTRINSIC
TLDc	670	832	1.05e-80	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000179393
AA Change: L507W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000136923
Gene: ENSMUSG00000022307
AA Change: L507W

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 damaging
Transcript: ENSMUST00000230203
AA Change: L595W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000230778
AA Change: L507W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.4591

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.7%

Validation Efficiency

97% (87/90)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	G	A	2: 68,524,370 (GRCm39)		probably null	Het
Adi1	G	A	12: 28,729,318 (GRCm39)		probably benign	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Apob	A	G	12: 8,066,243 (GRCm39)	E4371G	probably damaging	Het
Ash1l	T	C	3: 88,892,326 (GRCm39)	Y1402H	probably damaging	Het
Aspm	T	G	1: 139,408,728 (GRCm39)	C2538W	possibly damaging	Het
Brd10	A	G	19: 29,732,367 (GRCm39)		probably benign	Het
Btbd16	T	C	7: 130,420,802 (GRCm39)	V353A	probably benign	Het
Cad	C	T	5: 31,212,327 (GRCm39)	S10L	possibly damaging	Het
Cdc42bpa	T	C	1: 179,939,352 (GRCm39)	S877P	probably damaging	Het
Cep152	A	T	2: 125,405,552 (GRCm39)	V1660D	probably benign	Het
Clrn2	G	T	5: 45,617,528 (GRCm39)	G133V	probably damaging	Het
Clstn2	T	C	9: 97,338,634 (GRCm39)	I842V	probably benign	Het
Cpt1c	C	T	7: 44,614,548 (GRCm39)	A434T	probably benign	Het
D130052B06Rik	G	T	11: 33,573,477 (GRCm39)	V70L	possibly damaging	Het
Dlg1	T	A	16: 31,612,388 (GRCm39)	V317E	probably damaging	Het
Dock10	T	C	1: 80,514,663 (GRCm39)	E1084G	possibly damaging	Het
Dync2h1	A	G	9: 7,157,646 (GRCm39)	V827A	probably benign	Het
E030030I06Rik	A	G	10: 22,024,832 (GRCm39)	L27P	unknown	Het
Ero1b	T	A	13: 12,589,714 (GRCm39)	L39Q	probably damaging	Het
Erp27	T	C	6: 136,888,609 (GRCm39)	D123G	probably damaging	Het
Fasn	G	T	11: 120,711,735 (GRCm39)	F148L	probably damaging	Het
Fbxl5	T	C	5: 43,922,746 (GRCm39)	E218G	probably damaging	Het
Fbxw28	A	T	9: 109,158,493 (GRCm39)	D210E	probably damaging	Het
Gm10653	T	A	9: 62,748,796 (GRCm39)		probably benign	Het
Gm17067	A	G	7: 42,357,554 (GRCm39)	L316S	probably benign	Het
Gm29106	T	C	1: 118,127,990 (GRCm39)	S561P	probably damaging	Het
Hmcn1	C	A	1: 150,508,188 (GRCm39)	K3699N	probably benign	Het
Itch	T	A	2: 155,021,009 (GRCm39)		probably null	Het
Itpr3	C	T	17: 27,317,145 (GRCm39)	A800V	probably damaging	Het
Kdm2b	A	T	5: 123,017,650 (GRCm39)	M1052K	probably damaging	Het
Kdm4b	T	C	17: 56,703,576 (GRCm39)	M712T	probably damaging	Het
Kmt5b	A	G	19: 3,852,104 (GRCm39)	E137G	probably damaging	Het
Krt33a	G	A	11: 99,903,289 (GRCm39)	T251I	probably benign	Het
Lrrc4b	G	T	7: 44,111,754 (GRCm39)	R542L	probably benign	Het
Macf1	C	A	4: 123,401,126 (GRCm39)	S653I	probably damaging	Het
Macrod2	G	A	2: 142,160,367 (GRCm39)	V408M	probably damaging	Het
Macroh2a2	T	C	10: 61,583,541 (GRCm39)	T200A	possibly damaging	Het
Mapkapk3	G	T	9: 107,166,425 (GRCm39)	A40E	possibly damaging	Het
Mmp20	G	A	9: 7,639,302 (GRCm39)	V157I	probably benign	Het
Mrps28	T	C	3: 8,988,805 (GRCm39)	R18G	possibly damaging	Het
Msrb2	T	A	2: 19,399,122 (GRCm39)	C162S	probably damaging	Het
Naa80	A	G	9: 107,460,753 (GRCm39)	Y216C	probably damaging	Het
Nckap5	T	G	1: 125,953,523 (GRCm39)	T1078P	possibly damaging	Het
Nectin3	T	C	16: 46,256,763 (GRCm39)	Y91C	probably benign	Het
Nf2	G	T	11: 4,734,566 (GRCm39)		probably null	Het
Or10d1b	G	A	9: 39,613,696 (GRCm39)	A123V	probably damaging	Het
Or13a23-ps1	A	T	7: 140,118,789 (GRCm39)	M120L	unknown	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or2y10	A	T	11: 49,455,428 (GRCm39)	I227F	possibly damaging	Het
Or4c29	T	C	2: 88,740,380 (GRCm39)	D119G	probably damaging	Het
Or4g7	T	A	2: 111,309,310 (GRCm39)	Y60*	probably null	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Plxna2	A	T	1: 194,481,883 (GRCm39)	K1451M	probably damaging	Het
Plxna2	A	G	1: 194,476,735 (GRCm39)	M1184V	probably benign	Het
Pofut1	G	A	2: 153,101,713 (GRCm39)		probably null	Het
Ppp1r16b	T	C	2: 158,597,137 (GRCm39)	V257A	possibly damaging	Het
Prss56	G	A	1: 87,115,279 (GRCm39)	W498*	probably null	Het
Ptpru	A	G	4: 131,498,604 (GRCm39)	F1329S	probably damaging	Het
Pusl1	A	G	4: 155,973,920 (GRCm39)	F278S	probably damaging	Het
Qars1	A	T	9: 108,390,889 (GRCm39)	L470F	probably damaging	Het
Rbm8a2	T	C	1: 175,806,312 (GRCm39)	D55G	probably benign	Het
Rora	T	A	9: 69,271,734 (GRCm39)	N181K	probably benign	Het
Rufy3	A	G	5: 88,775,114 (GRCm39)	D262G	probably damaging	Het
Sh3gl2	G	A	4: 85,299,651 (GRCm39)	V212M	probably damaging	Het
Sis	G	A	3: 72,835,641 (GRCm39)	T907I	probably benign	Het
Slc38a3	A	T	9: 107,529,374 (GRCm39)	I456N	probably damaging	Het
Slc4a8	T	A	15: 100,705,220 (GRCm39)	C809S	probably benign	Het
Snap91	A	T	9: 86,707,133 (GRCm39)		probably null	Het
Spaca6	A	G	17: 18,051,458 (GRCm39)	T45A	probably benign	Het
Speer1m	A	T	5: 11,970,680 (GRCm39)	L84F	probably damaging	Het
Spry1	T	C	3: 37,696,997 (GRCm39)	I80T	possibly damaging	Het
St8sia2	A	G	7: 73,610,458 (GRCm39)	L275P	possibly damaging	Het
Supt7l	C	A	5: 31,684,331 (GRCm39)		probably null	Het
Tdo2	T	A	3: 81,868,747 (GRCm39)	K304N	probably damaging	Het
Tdrd12	A	T	7: 35,184,655 (GRCm39)	Y753N	probably damaging	Het
Topbp1	A	T	9: 103,222,152 (GRCm39)	Q1341L	probably benign	Het
Trim14	G	T	4: 46,506,998 (GRCm39)	A406E	probably benign	Het
Trp63	C	T	16: 25,686,964 (GRCm39)	R393W	probably damaging	Het
Trrap	T	C	5: 144,754,489 (GRCm39)	V1932A	possibly damaging	Het
Trrap	T	C	5: 144,762,724 (GRCm39)	M2399T	possibly damaging	Het
Unc45b	A	G	11: 82,804,153 (GRCm39)	N110S	probably damaging	Het
Usp32	G	T	11: 84,916,408 (GRCm39)	H845Q	probably damaging	Het
Usp44	G	A	10: 93,682,494 (GRCm39)	D268N	probably damaging	Het
Vmn1r18	T	G	6: 57,367,451 (GRCm39)	R34S	possibly damaging	Het
Vmn2r103	T	A	17: 20,014,478 (GRCm39)	Y423*	probably null	Het
Wapl	A	T	14: 34,461,204 (GRCm39)	E1054V	possibly damaging	Het
Zbtb8b	A	G	4: 129,322,286 (GRCm39)	Y392H	probably damaging	Het
Zdhhc2	A	T	8: 40,925,968 (GRCm39)	Q321L	probably null	Het
Zfp983	A	G	17: 21,881,401 (GRCm39)	D443G	probably benign	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
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
R7812:Oxr1	UTSW	15	41,615,138 (GRCm39)	start codon destroyed	probably null
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'- GCAGTCACTATAGGGAAAGGCC -3'
(R):5'- GGAAGTCTTGCCCTCCTTAC -3'

Sequencing Primer
(F):5'- CCTTCAAAGGCACGGCTTTTTATAGG -3'
(R):5'- TACCTCCCACTCCCTGGCTG -3'

Posted On

2017-06-26