Mutagenetix > Incidental Mutations

Incidental Mutation 'R0276:Oxr1'

35412

Institutional Source

Beutler Lab

Gene Symbol

Oxr1

Ensembl Gene

ENSMUSG00000022307

Gene Name

oxidation resistance 1

Synonyms

C7B, 2210416C20Rik, C7

MMRRC Submission

038498-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0276 (G1)

Quality Score

224

Status

Validated

Chromosome

Chromosomal Location

41447482-41861048 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41820062 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 294 (S294P)

Ref Sequence

ENSEMBL: ENSMUSP00000155630 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022918] [ENSMUST00000090095] [ENSMUST00000090096] [ENSMUST00000110297] [ENSMUST00000170127] [ENSMUST00000179393] [ENSMUST00000229511] [ENSMUST00000229769] [ENSMUST00000230203] [ENSMUST00000230778]

Predicted Effect

probably damaging
Transcript: ENSMUST00000022918
AA Change: S275P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000022918
Gene: ENSMUSG00000022307
AA Change: S275P

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: S275P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000087553
Gene: ENSMUSG00000022307
AA Change: S275P

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: S275P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000087554
Gene: ENSMUSG00000022307
AA Change: S275P

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: S363P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000105926
Gene: ENSMUSG00000022307
AA Change: S363P

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: S356P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000126266
Gene: ENSMUSG00000022307
AA Change: S356P

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: S275P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000136923
Gene: ENSMUSG00000022307
AA Change: S275P

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 damaging
Transcript: ENSMUST00000229769
AA Change: S294P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000230203
AA Change: S363P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000230778
AA Change: S275P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Meta Mutation Damage Score

0.2296

Coding Region Coverage

1x: 98.7%
3x: 97.8%
10x: 96.2%
20x: 93.8%

Validation Efficiency

98% (101/103)

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts13	A	G	2: 26,975,760	N109S	possibly damaging	Het
Adcy10	T	A	1: 165,572,591	M1523K	possibly damaging	Het
Agtpbp1	C	T	13: 59,462,031	S1095N	possibly damaging	Het
Ang2	C	T	14: 51,195,518	V136I	probably damaging	Het
Arhgap10	A	T	8: 77,413,581	M250K	probably benign	Het
Arhgap33	A	T	7: 30,523,244	W1088R	probably benign	Het
Arhgef15	T	C	11: 68,953,472		probably benign	Het
Aspm	T	C	1: 139,478,471	S1699P	possibly damaging	Het
Atp12a	C	A	14: 56,387,694	D1014E	probably damaging	Het
Atp1a4	T	A	1: 172,257,901	K45M	probably damaging	Het
Atp8a1	A	T	5: 67,786,673		probably benign	Het
Baiap3	A	C	17: 25,243,687	F1099C	probably damaging	Het
Bcas3	T	A	11: 85,470,837		probably null	Het
Bms1	G	A	6: 118,408,134	T371M	possibly damaging	Het
Camta1	C	A	4: 151,075,140	R1614L	probably damaging	Het
Capn3	T	C	2: 120,488,065		probably benign	Het
Ccdc180	A	G	4: 45,923,534	D1105G	probably damaging	Het
Ccdc33	G	T	9: 58,058,392	P364Q	probably damaging	Het
Ccdc36	A	T	9: 108,428,440	M11K	possibly damaging	Het
Clstn3	A	G	6: 124,431,740		probably benign	Het
Cntrl	A	T	2: 35,151,732	Y619F	possibly damaging	Het
Col12a1	A	T	9: 79,630,741	Y2514*	probably null	Het
Cpt1b	T	C	15: 89,419,959	H503R	probably benign	Het
Crb1	T	A	1: 139,323,335	T293S	possibly damaging	Het
D130043K22Rik	C	T	13: 24,858,045	T319I	possibly damaging	Het
Dzip1l	G	A	9: 99,660,998	R502Q	probably benign	Het
Efcab5	A	G	11: 77,129,876	M673T	probably damaging	Het
Efcab5	G	A	11: 77,140,923	R42W	probably damaging	Het
F2rl3	A	G	8: 72,762,798	T218A	probably benign	Het
Fam135a	C	T	1: 24,067,964	R31H	probably damaging	Het
Fam84b	G	T	15: 60,823,674	Y74*	probably null	Het
Fcer2a	A	T	8: 3,689,811	N53K	possibly damaging	Het
Gm14085	T	A	2: 122,521,928	S389T	probably damaging	Het
Golgb1	A	C	16: 36,913,876	K1162Q	probably damaging	Het
Gpr137b	A	T	13: 13,367,575		probably benign	Het
Haspin	A	T	11: 73,136,487	L592Q	probably damaging	Het
Helq	A	G	5: 100,790,147	F478L	probably damaging	Het
Il17rb	T	A	14: 30,004,380	T84S	probably damaging	Het
Itga4	T	C	2: 79,321,493	L880P	probably damaging	Het
Itih5	A	G	2: 10,185,564	I61V	possibly damaging	Het
Ivl	G	A	3: 92,571,514	L415F	unknown	Het
Kif2a	A	G	13: 106,976,650		probably benign	Het
Kmt2d	T	C	15: 98,850,311		probably benign	Het
Lars2	A	G	9: 123,438,121		probably benign	Het
Lilrb4a	T	C	10: 51,491,581	V73A	probably benign	Het
Lrrc8a	A	G	2: 30,256,788	D538G	possibly damaging	Het
Lrrk1	G	A	7: 66,296,263		probably benign	Het
Mc2r	A	T	18: 68,408,132	I30K	possibly damaging	Het
Mybbp1a	C	A	11: 72,450,107		probably null	Het
Napg	C	T	18: 62,986,963	R149C	probably damaging	Het
Ncam2	A	G	16: 81,517,629		probably benign	Het
Nlk	T	C	11: 78,571,475	I509V	probably benign	Het
Nlrp2	A	T	7: 5,328,109	N429K	probably benign	Het
Nlrp9b	A	G	7: 20,028,498	T247A	probably benign	Het
Noxo1	A	T	17: 24,700,162		probably null	Het
Olfr1212	T	A	2: 88,958,755	C96*	probably null	Het
Olfr139	A	G	11: 74,045,118	I52T	probably damaging	Het
Olfr353	A	T	2: 36,890,023	M275K	probably benign	Het
Olfr701	A	T	7: 106,818,697	I205L	probably benign	Het
Olfr734	C	A	14: 50,320,179	A219S	probably benign	Het
Pfpl	A	G	19: 12,429,237	Y284C	probably damaging	Het
Pi16	A	T	17: 29,326,943	T232S	probably benign	Het
Plcxd2	A	T	16: 46,009,707	N50K	probably benign	Het
Plekhn1	T	A	4: 156,228,246	N52Y	probably damaging	Het
Prl2c5	T	C	13: 13,183,049		probably benign	Het
Prrc2b	G	A	2: 32,219,654	V1080I	probably damaging	Het
Psg28	A	T	7: 18,430,396	N130K	probably benign	Het
Psme4	C	A	11: 30,811,980	T440K	probably damaging	Het
Ptcd2	T	C	13: 99,321,596	K296E	probably benign	Het
Ptprq	T	C	10: 107,542,735		probably null	Het
Rab5b	A	C	10: 128,686,746		probably null	Het
Rft1	T	A	14: 30,690,583	S534T	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Rsu1	A	T	2: 13,170,135		probably benign	Het
Senp6	A	G	9: 80,136,747	M887V	probably benign	Het
Sgcz	T	A	8: 37,952,919	M60L	probably benign	Het
Siglec1	G	A	2: 131,083,941	Q282*	probably null	Het
Sipa1l2	T	C	8: 125,421,940	T1655A	probably damaging	Het
Slc43a3	G	A	2: 84,937,663		probably benign	Het
Snx29	T	C	16: 11,738,373	V756A	probably benign	Het
Spta1	T	A	1: 174,217,894	H1539Q	probably damaging	Het
Stk3	A	C	15: 35,099,469	S104A	probably damaging	Het
Stk38	C	A	17: 28,992,416		probably null	Het
Stx6	T	C	1: 155,174,163		probably benign	Het
Thbs4	G	A	13: 92,775,532	T230I	probably benign	Het
Thrsp	A	G	7: 97,417,502	M1T	probably null	Het
Tmem63b	A	T	17: 45,675,373		probably benign	Het
Top2a	A	G	11: 99,009,907		probably benign	Het
Tpd52l2	T	C	2: 181,502,059		probably null	Het
Trak1	A	G	9: 121,454,338	E390G	probably damaging	Het
Trappc3	T	A	4: 126,273,952	D101E	possibly damaging	Het
Trhr	A	G	15: 44,197,086	M1V	probably null	Het
Triobp	T	A	15: 78,973,676	I1159K	probably benign	Het
Unc45a	A	G	7: 80,326,297		probably benign	Het
Usb1	A	G	8: 95,333,457	D12G	probably damaging	Het
Ushbp1	C	T	8: 71,394,649	C113Y	possibly damaging	Het
Vim	A	G	2: 13,574,859	K143R	probably benign	Het
Vmn2r75	T	C	7: 86,148,307	K766R	probably benign	Het
Wdr92	T	C	11: 17,229,821	I274T	probably benign	Het
Xpo5	T	G	17: 46,241,507	C1089G	probably damaging	Het

Other mutations in Oxr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00913:Oxr1	APN	15	41820143	missense	possibly damaging	0.46
IGL02243:Oxr1	APN	15	41535701	utr 5 prime	probably benign
IGL02711:Oxr1	APN	15	41653671	splice site	probably benign
IGL02810:Oxr1	APN	15	41813583	missense	probably benign	0.26
IGL02850:Oxr1	APN	15	41854933	missense	probably damaging	1.00
IGL03028:Oxr1	APN	15	41817163	missense	probably damaging	1.00
IGL03126:Oxr1	APN	15	41820249	missense	possibly damaging	0.66
PIT4378001:Oxr1	UTSW	15	41801582	missense	probably benign	0.01
R0004:Oxr1	UTSW	15	41820540	missense	possibly damaging	0.64
R0394:Oxr1	UTSW	15	41817197	missense	probably damaging	1.00
R1513:Oxr1	UTSW	15	41797474	missense	probably damaging	1.00
R1742:Oxr1	UTSW	15	41850559	missense	probably damaging	1.00
R2145:Oxr1	UTSW	15	41819944	missense	probably damaging	1.00
R2924:Oxr1	UTSW	15	41825957	missense	probably benign	0.01
R3732:Oxr1	UTSW	15	41848701	missense	probably damaging	1.00
R4537:Oxr1	UTSW	15	41820519	missense	possibly damaging	0.67
R4722:Oxr1	UTSW	15	41813649	missense	probably damaging	1.00
R4935:Oxr1	UTSW	15	41813584	missense	probably benign	0.00
R5417:Oxr1	UTSW	15	41820371	missense	probably benign	0.00
R6029:Oxr1	UTSW	15	41825901	missense	probably damaging	1.00
R6187:Oxr1	UTSW	15	41825919	missense	probably damaging	1.00
R6864:Oxr1	UTSW	15	41823387	missense	probably damaging	1.00
R6950:Oxr1	UTSW	15	41820555	missense	probably benign	0.00
R7225:Oxr1	UTSW	15	41813608	missense	not run
R7288:Oxr1	UTSW	15	41813608	missense	not run
R7305:Oxr1	UTSW	15	41813608	missense	not run
R7575:Oxr1	UTSW	15	41823362	missense	possibly damaging	0.80
R7729:Oxr1	UTSW	15	41823467	missense	probably damaging	1.00
R7764:Oxr1	UTSW	15	41819867	missense	probably benign
R7812:Oxr1	UTSW	15	41751742	start codon destroyed	probably null
X0025:Oxr1	UTSW	15	41820452	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAAAGCGACAGGAGTCTCTGCTG -3'
(R):5'- TCTGTGACACCTGCTGAATCGTG -3'

Sequencing Primer
(F):5'- AGGAGTCTCTGCTGAGGACG -3'
(R):5'- GGAAGAATCCTGGTTATCCTGAC -3'

Posted On

2013-05-09