Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03028:Oxr1'

408284

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Oxr1

Ensembl Gene

ENSMUSG00000022307

Gene Name

oxidation resistance 1

Synonyms

C7B, 2210416C20Rik, C7

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03028

Quality Score

Status

Chromosome

Chromosomal Location

41447482-41861048 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 41817163 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 166 (N166D)

Ref Sequence

ENSEMBL: ENSMUSP00000155161 (fasta)

Gene Model

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

AlphaFold

Q4KMM3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022918
AA Change: N166D

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000022918
Gene: ENSMUSG00000022307
AA Change: N166D

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

possibly damaging
Transcript: ENSMUST00000090095
AA Change: N166D

PolyPhen 2 Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000087553
Gene: ENSMUSG00000022307
AA Change: N166D

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

possibly damaging
Transcript: ENSMUST00000090096
AA Change: N166D

PolyPhen 2 Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000087554
Gene: ENSMUSG00000022307
AA Change: N166D

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

possibly damaging
Transcript: ENSMUST00000110297
AA Change: N254D

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000105926
Gene: ENSMUSG00000022307
AA Change: N254D

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

possibly damaging
Transcript: ENSMUST00000170127
AA Change: N247D

PolyPhen 2 Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000126266
Gene: ENSMUSG00000022307
AA Change: N247D

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

possibly damaging
Transcript: ENSMUST00000179393
AA Change: N166D

PolyPhen 2 Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000136923
Gene: ENSMUSG00000022307
AA Change: N166D

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: N185D

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000230203
AA Change: N254D

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

probably damaging
Transcript: ENSMUST00000230778
AA Change: N166D

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

Coding Region Coverage

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acat1	A	C	9: 53,594,762	V86G	probably benign	Het
Adgra3	A	T	5: 50,016,852	W115R	probably benign	Het
Ahr	G	A	12: 35,504,710	A470V	probably benign	Het
AI481877	A	C	4: 59,094,274	I150S	possibly damaging	Het
Aoah	A	T	13: 20,816,582	Q62L	possibly damaging	Het
Arhgef12	A	T	9: 43,026,228	D100E	possibly damaging	Het
Asic1	A	G	15: 99,672,157	N120D	probably benign	Het
Atp2b2	A	G	6: 113,759,142	L988P	probably damaging	Het
Atxn2	T	A	5: 121,810,909	H789Q	probably damaging	Het
Clk1	G	T	1: 58,421,102	S123*	probably null	Het
Col10a1	C	T	10: 34,395,016	A328V	probably benign	Het
Col26a1	G	T	5: 136,743,118	D415E	possibly damaging	Het
Ctla2a	A	G	13: 60,935,459		probably benign	Het
Cwf19l2	A	G	9: 3,430,622	E318G	probably benign	Het
Dnajc16	C	T	4: 141,767,732	W523*	probably null	Het
Ehhadh	T	C	16: 21,762,394	E616G	probably damaging	Het
F5	A	T	1: 164,193,000	K1015*	probably null	Het
Fam78a	A	G	2: 32,082,882	W9R	possibly damaging	Het
Frs2	A	T	10: 117,073,933	M508K	possibly damaging	Het
Gm3164	A	T	14: 4,440,111	M200L	probably benign	Het
Gm44511	T	C	6: 128,780,395	S179G	probably damaging	Het
Gpr25	G	A	1: 136,260,812	S21L	probably benign	Het
Hsdl2	A	G	4: 59,594,471	D34G	probably damaging	Het
Kcnt1	A	G	2: 25,909,203		probably null	Het
Kl	A	G	5: 150,991,550	Y914C	probably damaging	Het
Map3k3	T	G	11: 106,110,751	V45G	probably damaging	Het
Mppe1	A	C	18: 67,227,684	C261W	probably damaging	Het
Nin	T	C	12: 70,035,270	T1640A	probably benign	Het
Olfr368	C	T	2: 37,331,956	L70F	probably damaging	Het
Olfr483	T	A	7: 108,104,173	M288K	probably damaging	Het
Olfr570	T	A	7: 102,900,829	I154N	possibly damaging	Het
Olfr616	A	G	7: 103,564,589		probably null	Het
Olfr844	A	T	9: 19,319,368	Y284F	probably damaging	Het
Pank4	T	A	4: 154,969,985		probably benign	Het
Pgd	A	G	4: 149,161,627		probably null	Het
Pitrm1	C	T	13: 6,574,393	H831Y	probably benign	Het
Pkd1l2	G	A	8: 117,065,745	T436I	probably benign	Het
Rad51	A	C	2: 119,116,314	M1L	possibly damaging	Het
Recql5	G	T	11: 115,894,431	S746R	possibly damaging	Het
Rhbdl3	C	T	11: 80,323,461	Q133*	probably null	Het
Rpp40	A	T	13: 35,904,511	L59Q	probably damaging	Het
Rtca	C	A	3: 116,493,092		probably benign	Het
Rtkn	C	T	6: 83,147,872	Q108*	probably null	Het
Sirt6	C	T	10: 81,627,541		probably benign	Het
Slc9a4	G	A	1: 40,610,377	V517M	probably benign	Het
Smarca2	G	T	19: 26,678,312		probably benign	Het
Snx33	A	T	9: 56,926,451	D111E	probably benign	Het
Tgfb1	T	C	7: 25,704,196	I311T	probably damaging	Het
Tgfb2	C	T	1: 186,630,609		probably null	Het
Tmem232	T	C	17: 65,256,389	T670A	probably benign	Het
Tnfsf4	T	C	1: 161,395,642	F21L	possibly damaging	Het
Ubr5	T	C	15: 38,047,593	T47A	probably benign	Het
Unc79	T	C	12: 103,173,526	V2515A	possibly damaging	Het
Utp6	T	C	11: 79,953,624	K192E	probably damaging	Het
Vmn2r102	T	C	17: 19,694,066	F631S	possibly damaging	Het
Zfp516	A	C	18: 82,955,913	I79L	possibly 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
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
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
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

Posted On

2016-08-02