Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4378001:Oxr1'

555024

Institutional Source

Beutler Lab

Gene Symbol

Oxr1

Ensembl Gene

ENSMUSG00000022307

Gene Name

oxidation resistance 1

Synonyms

2210416C20Rik, C7, C7B

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

PIT4378001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

41310878-41724444 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 41664978 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 138 (V138I)

Ref Sequence

ENSEMBL: ENSMUSP00000105926 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022918] [ENSMUST00000090095] [ENSMUST00000090096] [ENSMUST00000110297] [ENSMUST00000170127] [ENSMUST00000179393] [ENSMUST00000229511] [ENSMUST00000229769] [ENSMUST00000229836] [ENSMUST00000230203] [ENSMUST00000230778]

AlphaFold

Q4KMM3

Predicted Effect

probably benign
Transcript: ENSMUST00000022918
AA Change: V50I

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000022918
Gene: ENSMUSG00000022307
AA Change: V50I

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
AA Change: V50I

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000087553
Gene: ENSMUSG00000022307
AA Change: V50I

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
AA Change: V50I

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000087554
Gene: ENSMUSG00000022307
AA Change: V50I

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
AA Change: V138I

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000105926
Gene: ENSMUSG00000022307
AA Change: V138I

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: ENSMUST00000170127
AA Change: V131I

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000126266
Gene: ENSMUSG00000022307
AA Change: V131I

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
AA Change: V50I

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000136923
Gene: ENSMUSG00000022307
AA Change: V50I

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
AA Change: V69I

PolyPhen 2 Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000229836
AA Change: V71I

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000230203
AA Change: V138I

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

probably benign
Transcript: ENSMUST00000230778
AA Change: V50I

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)

Coding Region Coverage

1x: 93.1%
3x: 90.8%
10x: 85.0%
20x: 72.2%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310033P09Rik	T	C	11: 59,099,802 (GRCm39)	V100A	probably benign	Het
Adamtsl1	T	C	4: 86,117,601 (GRCm39)	V188A	possibly damaging	Het
Aldh6a1	T	C	12: 84,488,646 (GRCm39)	D80G	probably benign	Het
Ankrd50	T	C	3: 38,509,412 (GRCm39)	Q62R	possibly damaging	Het
Aopep	T	C	13: 63,163,021 (GRCm39)	L14P	probably damaging	Het
Arrdc1	T	A	2: 24,816,645 (GRCm39)	Y177F	probably damaging	Het
Asap1	C	T	15: 64,007,697 (GRCm39)	R384Q	probably damaging	Het
Atxn2l	A	T	7: 126,096,443 (GRCm39)	V433D	probably benign	Het
Bbs1	G	A	19: 4,941,703 (GRCm39)	A529V	probably benign	Het
Bbx	G	A	16: 50,100,836 (GRCm39)	R20*	probably null	Het
Bend5	T	C	4: 111,288,304 (GRCm39)	V106A	probably benign	Het
C1galt1	A	G	6: 7,863,944 (GRCm39)	N8S	probably benign	Het
Cdc42ep1	G	A	15: 78,733,880 (GRCm39)	D327N	possibly damaging	Het
Cep162	A	G	9: 87,099,198 (GRCm39)	S767P	probably benign	Het
Cep43	T	C	17: 8,401,105 (GRCm39)	S209P	probably damaging	Het
Csmd1	T	C	8: 15,945,728 (GRCm39)	T3562A	probably damaging	Het
Dnah7a	A	G	1: 53,570,362 (GRCm39)	S1815P	probably damaging	Het
Ei24	A	T	9: 36,697,320 (GRCm39)	L136Q	probably damaging	Het
Extl2	T	G	3: 115,804,339 (GRCm39)	M1R	probably null	Het
Fat3	T	C	9: 16,288,104 (GRCm39)	E473G	probably benign	Het
Fcgbpl1	G	A	7: 27,853,889 (GRCm39)	D1618N	possibly damaging	Het
Fhip1a	A	G	3: 85,637,858 (GRCm39)	L147P	probably damaging	Het
G6pc3	T	A	11: 102,080,827 (GRCm39)	W26R	probably damaging	Het
Hc	T	A	2: 34,921,876 (GRCm39)	Y610F	probably benign	Het
Hecw1	T	C	13: 14,552,368 (GRCm39)	D77G	probably damaging	Het
Hgf	T	C	5: 16,816,860 (GRCm39)	V497A	probably damaging	Het
Hjurp	CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT	C	1: 88,193,999 (GRCm39)		probably benign	Het
Hyou1	A	C	9: 44,302,148 (GRCm39)	D968A	probably benign	Het
Jmjd1c	T	A	10: 67,065,692 (GRCm39)	S1525T	probably damaging	Het
Kcnc4	G	A	3: 107,354,879 (GRCm39)	T523I	probably benign	Het
Kcng1	C	T	2: 168,104,604 (GRCm39)	C414Y	probably damaging	Het
Klhdc10	T	C	6: 30,447,411 (GRCm39)	I204T	probably damaging	Het
Krt18	A	T	15: 101,938,358 (GRCm39)	T194S	probably benign	Het
Krt76	A	C	15: 101,800,842 (GRCm39)	N151K	probably damaging	Het
Krtap31-2	A	G	11: 99,827,542 (GRCm39)	T125A	possibly damaging	Het
Lama5	A	G	2: 179,831,238 (GRCm39)	V1807A	possibly damaging	Het
Lats1	T	G	10: 7,581,369 (GRCm39)	V718G	probably damaging	Het
Mef2b	A	G	8: 70,616,910 (GRCm39)	K4E	probably damaging	Het
Mertk	T	C	2: 128,624,537 (GRCm39)		probably null	Het
Mroh8	A	G	2: 157,070,620 (GRCm39)	V577A	possibly damaging	Het
Mtcl1	T	G	17: 66,745,274 (GRCm39)	N381T	probably damaging	Het
Nfyc	T	A	4: 120,647,688 (GRCm39)		probably null	Het
Nol4	C	A	18: 23,172,933 (GRCm39)	W56L	probably damaging	Het
Notch2	A	T	3: 98,050,272 (GRCm39)	D1849V	probably damaging	Het
Or10ad1	G	A	15: 98,105,452 (GRCm39)	T271I	probably damaging	Het
Or10j7	T	C	1: 173,011,381 (GRCm39)	T207A	probably benign	Het
Or14c45	A	T	7: 86,176,306 (GRCm39)	T114S	possibly damaging	Het
Or4n4b	T	C	14: 50,536,355 (GRCm39)	N137S	probably benign	Het
Or5an10	A	G	19: 12,276,076 (GRCm39)	M140T	probably damaging	Het
Or7g28	T	A	9: 19,272,471 (GRCm39)	Y60F	probably damaging	Het
Or8s5	A	G	15: 98,238,153 (GRCm39)	V239A	possibly damaging	Het
Pars2	A	G	4: 106,511,490 (GRCm39)	E424G	possibly damaging	Het
Peli2	C	A	14: 48,405,726 (GRCm39)	Y50*	probably null	Het
Plag1	T	A	4: 3,905,492 (GRCm39)	H66L	probably benign	Het
Psme4	T	C	11: 30,771,079 (GRCm39)		probably benign	Het
Robo1	A	T	16: 72,801,423 (GRCm39)	S1016C	probably damaging	Het
Rrbp1	A	G	2: 143,816,460 (GRCm39)	V723A	probably benign	Het
Sgip1	C	A	4: 102,778,280 (GRCm39)	D292E	unknown	Het
Skint4	T	A	4: 111,944,232 (GRCm39)	C23S	probably benign	Het
Slc22a28	A	C	19: 8,049,279 (GRCm39)	S323R	probably damaging	Het
Slc41a3	A	G	6: 90,617,891 (GRCm39)	T306A	probably benign	Het
Spata13	A	G	14: 60,987,445 (GRCm39)	M868V	probably damaging	Het
Spata6	T	G	4: 111,603,378 (GRCm39)	I31S	possibly damaging	Het
Sycp3	A	T	10: 88,302,366 (GRCm39)	K119*	probably null	Het
Tlk2	T	A	11: 105,172,046 (GRCm39)	S739T	unknown	Het
Trim10	T	C	17: 37,188,020 (GRCm39)	V412A	probably damaging	Het
Ttc3	T	A	16: 94,211,765 (GRCm39)	F377I	probably benign	Het
Uck1	T	A	2: 32,146,046 (GRCm39)	H283L	probably damaging	Het
Unc5a	T	C	13: 55,143,681 (GRCm39)	Y122H	possibly damaging	Het
Uncx	C	T	5: 139,530,377 (GRCm39)	R152*	probably null	Het
Usp44	A	G	10: 93,681,517 (GRCm39)		probably benign	Het
Vamp2	A	C	11: 68,980,564 (GRCm39)	D44A	probably benign	Het
Vmn2r83	A	G	10: 79,304,849 (GRCm39)	T20A	probably benign	Het
Vmn2r84	A	T	10: 130,221,784 (GRCm39)	I812N	probably damaging	Het
Vrtn	T	G	12: 84,695,943 (GRCm39)	L231R	probably damaging	Het
Wdr75	A	G	1: 45,859,333 (GRCm39)	T677A	probably damaging	Het
Xylt1	C	A	7: 117,148,100 (GRCm39)	S221R	possibly damaging	Het
Zscan22	A	G	7: 12,637,983 (GRCm39)	E125G	possibly damaging	Het
Zxdc	A	T	6: 90,350,698 (GRCm39)	H383L	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
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
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'- GCTACTTGCTAATGTTAACACTGC -3'
(R):5'- CATATAAGCATGCATTCCTGTGC -3'

Sequencing Primer
(F):5'- ACTGCCAAGTTGCCTTTGAG -3'
(R):5'- GCACGCGCGCAAATTCC -3'

Posted On

2019-06-07