Mutagenetix > Incidental Mutations

Incidental Mutation 'R3732:Oxr1'

356399

Institutional Source

Beutler Lab

Gene Symbol

Oxr1

Ensembl Gene

ENSMUSG00000022307

Gene Name

oxidation resistance 1

Synonyms

C7B, 2210416C20Rik, C7

MMRRC Submission

040720-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3732 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

41447482-41861048 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41848701 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 656 (I656T)

Ref Sequence

ENSEMBL: ENSMUSP00000105926 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022918] [ENSMUST00000090095] [ENSMUST00000090096] [ENSMUST00000110297] [ENSMUST00000166917] [ENSMUST00000170127] [ENSMUST00000179393] [ENSMUST00000230127] [ENSMUST00000230131] [ENSMUST00000230203] [ENSMUST00000231215]

AlphaFold

Q4KMM3

Predicted Effect

probably damaging
Transcript: ENSMUST00000022918
AA Change: I568T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000022918
Gene: ENSMUSG00000022307
AA Change: I568T

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 benign
Transcript: ENSMUST00000090095

SMART Domains

Protein: ENSMUSP00000087553
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: 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 damaging
Transcript: ENSMUST00000110297
AA Change: I656T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000105926
Gene: ENSMUSG00000022307
AA Change: I656T

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: ENSMUST00000166917

SMART Domains

Protein: ENSMUSP00000130456
Gene: ENSMUSG00000022307

Domain	Start	End	E-Value	Type
TLDc	54	216	1.05e-80	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000170127

SMART Domains

Protein: ENSMUSP00000126266
Gene: ENSMUSG00000022307

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 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

noncoding transcript
Transcript: ENSMUST00000230126

Predicted Effect

probably benign
Transcript: ENSMUST00000230127

Predicted Effect

possibly damaging
Transcript: ENSMUST00000230131
AA Change: I33T

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000230203

Predicted Effect

probably benign
Transcript: ENSMUST00000231215

Meta Mutation Damage Score

0.3652

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.6%

Validation Efficiency

93% (56/60)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006E09Rik	C	T	11: 101,988,452	Q17*	probably null	Het
1700012B07Rik	G	T	11: 109,794,154	C172*	probably null	Het
Aacs	C	T	5: 125,506,262	T294M	probably damaging	Het
Ablim1	A	T	19: 57,049,460		probably null	Het
Adgrf4	C	T	17: 42,672,581	G70E	probably damaging	Het
Adgrl3	C	A	5: 81,794,946	H1474Q	probably benign	Het
Adgrv1	T	C	13: 81,556,956	I1578M	probably damaging	Het
Afg3l1	G	A	8: 123,501,233	G547D	probably damaging	Het
Ambra1	G	A	2: 91,810,131	R635H	probably damaging	Het
Araf	TACACACACACACACACA	TACACACACACACACA	X: 20,850,226		probably benign	Het
Arhgef10l	AGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGA	4: 140,581,619		probably benign	Het
Bcl7b	A	G	5: 135,180,913	T141A	probably benign	Het
Calm5	T	A	13: 3,854,337	N10K	probably damaging	Het
Camsap1	T	C	2: 25,938,344	R1123G	probably damaging	Het
Chrna3	T	C	9: 55,015,894	K210R	probably benign	Het
Ciz1	A	G	2: 32,367,483	N180S	possibly damaging	Het
Cntnap3	G	A	13: 64,740,999	A1162V	possibly damaging	Het
Cox5b	C	T	1: 36,693,260	P114L	probably damaging	Het
Cpsf2	T	C	12: 101,987,308	I199T	probably damaging	Het
Cyp2a4	A	G	7: 26,312,827	D345G	probably damaging	Het
Cyp2s1	C	T	7: 25,803,954	R424Q	probably null	Het
D1Pas1	C	A	1: 186,968,097	S74R	probably benign	Het
Ddx4	T	A	13: 112,611,982	I487F	possibly damaging	Het
Dnah5	A	T	15: 28,409,122	E3562V	possibly damaging	Het
Dpf3	T	C	12: 83,269,507	D330G	possibly damaging	Het
Edem1	T	C	6: 108,841,621	F197L	probably damaging	Het
Ergic2	T	C	6: 148,202,522	D79G	probably damaging	Het
Espl1	A	G	15: 102,312,989	I944V	probably damaging	Het
Fam102a	G	A	2: 32,566,292	S322N	probably benign	Het
Fam111a	T	C	19: 12,587,550	L221P	possibly damaging	Het
Fat1	T	C	8: 44,953,269	V1019A	possibly damaging	Het
Fbxl21	T	A	13: 56,527,017	H60Q	probably benign	Het
Fbxw7	A	C	3: 84,925,707	K19Q	possibly damaging	Het
Gldn	A	G	9: 54,338,662	K499R	possibly damaging	Het
Gm5514	T	G	19: 21,938,252		noncoding transcript	Het
Gria4	C	T	9: 4,513,295	M271I	probably benign	Het
Herc1	C	T	9: 66,445,640	T2136I	probably damaging	Het
Igsf10	A	G	3: 59,325,714	F1866S	probably benign	Het
Iqcg	G	T	16: 33,053,626		probably benign	Het
Itih2	A	T	2: 10,105,670	F537I	probably benign	Het
Itpr2	T	C	6: 146,382,700	D533G	probably damaging	Het
Kcnk15	A	G	2: 163,853,813	K22E	probably benign	Het
Lag3	A	T	6: 124,910,140	S155T	probably benign	Het
Lars	T	C	18: 42,212,602	E1003G	probably benign	Het
Layn	T	A	9: 51,059,544	N233I	probably damaging	Het
Lgi1	T	C	19: 38,306,246	Y465H	probably damaging	Het
Lrig1	C	T	6: 94,611,576	A531T	possibly damaging	Het
Lrrtm4	A	G	6: 80,019,655		probably benign	Het
Lsamp	T	A	16: 42,144,572	L264H	probably damaging	Het
Mthfd2	T	C	6: 83,313,475	E39G	probably damaging	Het
Mtx2	C	A	2: 74,847,262	A22E	probably damaging	Het
Nipal3	T	C	4: 135,463,846	T325A	probably damaging	Het
Nlrp14	A	T	7: 107,182,367	Y257F	probably benign	Het
Ola1	G	C	2: 73,156,860	R143G	probably damaging	Het
Olfr301	T	G	7: 86,412,633	I90M	probably damaging	Het
Otog	A	G	7: 46,288,368	T1834A	probably benign	Het
Panx1	GTTCTTCT	GTTCT	9: 15,006,171		probably benign	Het
Pcdh18	T	C	3: 49,754,791	S692G	probably benign	Het
Pcdhga1	A	G	18: 37,664,123	T727A	probably benign	Het
Pde9a	A	G	17: 31,448,427	E3G	possibly damaging	Het
Prl8a1	T	C	13: 27,579,733	E37G	probably damaging	Het
Rlf	C	T	4: 121,148,324	G1153D	probably benign	Het
Robo2	A	C	16: 73,920,747	L1159W	possibly damaging	Het
Sfxn5	T	C	6: 85,299,276		probably benign	Het
Siah2	A	G	3: 58,676,250	V205A	probably damaging	Het
Spindoc	A	C	19: 7,374,301	L202R	probably damaging	Het
Spock3	T	A	8: 63,345,699	D251E	probably damaging	Het
Srp68	T	A	11: 116,273,956	K51*	probably null	Het
Ssbp2	T	C	13: 91,524,607	Y29H	probably damaging	Het
Sspo	T	C	6: 48,449,930	V231A	probably damaging	Het
Stk4	T	A	2: 164,088,908	M143K	probably benign	Het
Tecta	C	T	9: 42,392,106	V77M	possibly damaging	Het
Trpc3	A	T	3: 36,638,559	D761E	probably benign	Het
Tubb2a	T	C	13: 34,075,264	E181G	probably damaging	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Ush2a	C	A	1: 188,944,760	N4756K	probably benign	Het
Vmn2r-ps159	G	T	4: 156,334,397		noncoding transcript	Het
Wapl	G	A	14: 34,736,764	V928I	probably damaging	Het
Zfand3	A	G	17: 30,192,656	K130R	probably benign	Het
Zfp934	A	T	13: 62,517,785	H347Q	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
R0276:Oxr1	UTSW	15	41820062	missense	probably damaging	1.00
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
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
R7910:Oxr1	UTSW	15	41653634	missense	possibly damaging	0.78
R8749:Oxr1	UTSW	15	41710864	missense	probably benign
R9024:Oxr1	UTSW	15	41831122	missense	probably damaging	0.97
R9032:Oxr1	UTSW	15	41854921	missense	probably benign	0.03
R9306:Oxr1	UTSW	15	41823465	missense	possibly damaging	0.76
X0025:Oxr1	UTSW	15	41820452	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTTAGAGGTATACCACTGTAGCGTC -3'
(R):5'- ACCATTCTTCAAGACAGGAATTTCC -3'

Sequencing Primer
(F):5'- TTTCCGGTGTGAACTAGGAAAAG -3'
(R):5'- GGAATTTCCTGGTGGCTTATTTTAG -3'

Posted On

2015-11-11