Mutagenetix > Incidental Mutations

Incidental Mutation 'R0879:Oxnad1'

81941

Institutional Source

Beutler Lab

Gene Symbol

Oxnad1

Ensembl Gene

ENSMUSG00000021906

Gene Name

oxidoreductase NAD-binding domain containing 1

Synonyms

MMRRC Submission

039046-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R0879 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32085374-32103202 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 32099596 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 213 (Y213N)

Ref Sequence

ENSEMBL: ENSMUSP00000022462 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022462] [ENSMUST00000164868] [ENSMUST00000165523] [ENSMUST00000168986] [ENSMUST00000169649] [ENSMUST00000170600] [ENSMUST00000171598] [ENSMUST00000227845]

Predicted Effect

probably damaging
Transcript: ENSMUST00000022462
AA Change: Y213N

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

SMART Domains

Protein: ENSMUSP00000022462
Gene: ENSMUSG00000021906
AA Change: Y213N

Domain	Start	End	E-Value	Type
Pfam:NAD_binding_6	168	269	6.5e-9	PFAM
Pfam:NAD_binding_1	173	293	8.1e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164396

Predicted Effect

probably benign
Transcript: ENSMUST00000164868

SMART Domains

Protein: ENSMUSP00000125791
Gene: ENSMUSG00000021906

Domain	Start	End	E-Value	Type
SCOP:d1ep3b1	65	149	1e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000165523

Predicted Effect

probably benign
Transcript: ENSMUST00000168986

SMART Domains

Protein: ENSMUSP00000126372
Gene: ENSMUSG00000021906

Domain	Start	End	E-Value	Type
SCOP:d1ep3b1	65	130	3e-10	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169078

Predicted Effect

probably benign
Transcript: ENSMUST00000169649

Predicted Effect

probably benign
Transcript: ENSMUST00000170519

SMART Domains

Protein: ENSMUSP00000132560
Gene: ENSMUSG00000021906

Domain	Start	End	E-Value	Type
SCOP:d1ep3b1	2	78	8e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000170600

SMART Domains

Protein: ENSMUSP00000130998
Gene: ENSMUSG00000021906

Domain	Start	End	E-Value	Type
SCOP:d1ep3b1	65	143	3e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000171598

SMART Domains

Protein: ENSMUSP00000132162
Gene: ENSMUSG00000021906

Domain	Start	End	E-Value	Type
SCOP:d1ep3b1	65	115	4e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000171849

Predicted Effect

probably benign
Transcript: ENSMUST00000227845

Meta Mutation Damage Score

0.9555

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 97.9%
20x: 96.3%

Validation Efficiency

100% (41/41)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aagab	T	A	9: 63,617,610		probably benign	Het
Adm	A	G	7: 110,628,352	D25G	possibly damaging	Het
Adprhl2	C	T	4: 126,316,617	V357I	probably benign	Het
Akap6	G	T	12: 52,880,799	R164L	probably damaging	Het
Baz2a	A	G	10: 128,121,304	N972S	probably damaging	Het
Brd2	A	T	17: 34,113,446	V232D	probably benign	Het
C6	A	G	15: 4,763,336		probably benign	Het
Ceacam5	A	C	7: 17,757,702	I666L	probably benign	Het
Col7a1	T	C	9: 108,976,091		probably benign	Het
Dnah17	C	T	11: 118,056,835		probably benign	Het
Dnah7a	A	T	1: 53,427,860	V3615E	possibly damaging	Het
Eml6	A	G	11: 29,850,816		probably null	Het
Enpp2	T	C	15: 54,877,930	E324G	probably damaging	Het
Fgd4	A	G	16: 16,477,449	V222A	probably damaging	Het
Gm4076	A	G	13: 85,127,207		noncoding transcript	Het
Gm4775	T	C	14: 106,100,793		noncoding transcript	Het
Igsf9b	T	C	9: 27,333,742	S1002P	probably damaging	Het
Jag1	A	G	2: 137,100,081	S244P	possibly damaging	Het
Klhl41	A	T	2: 69,683,483		probably benign	Het
Ltbr	A	G	6: 125,313,375		probably benign	Het
Megf8	A	G	7: 25,338,471	E804G	possibly damaging	Het
Mybpc1	G	A	10: 88,571,516		probably benign	Het
Npas4	T	C	19: 4,986,916	R407G	probably benign	Het
Pde6d	A	G	1: 86,545,801	F91S	probably benign	Het
Pelp1	A	G	11: 70,395,297		probably benign	Het
Plscr2	T	C	9: 92,287,793	Y99H	probably damaging	Het
Rft1	T	C	14: 30,682,748		probably benign	Het
Ryr3	T	C	2: 113,030,243	Y30C	probably benign	Het
Selenbp2	A	G	3: 94,699,556	T108A	possibly damaging	Het
Stk32b	A	G	5: 37,459,596		probably benign	Het
Stra6	T	C	9: 58,135,204		probably null	Het
Usp17le	A	T	7: 104,769,647	L96Q	probably damaging	Het
Usp17le	G	T	7: 104,769,648	L96M	possibly damaging	Het
Vmn1r76	A	T	7: 11,930,735	I184N	probably benign	Het
Vmn2r102	T	C	17: 19,694,192	V673A	probably damaging	Het
Wdr17	T	G	8: 54,661,481	I667L	probably benign	Het
Zfp292	T	C	4: 34,811,218	T609A	probably benign	Het
Zfp821	T	C	8: 109,721,842	I135T	possibly damaging	Het
Zfp865	A	G	7: 5,031,343	T776A	probably benign	Het
Zp2	G	T	7: 120,135,534	P477Q	probably damaging	Het

Other mutations in Oxnad1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0480:Oxnad1	UTSW	14	32099480	missense	probably damaging	1.00
R1482:Oxnad1	UTSW	14	32099633	critical splice donor site	probably null
R1526:Oxnad1	UTSW	14	32102287	missense	probably benign	0.00
R4649:Oxnad1	UTSW	14	32102409	makesense	probably null
R4703:Oxnad1	UTSW	14	32095470	missense	probably damaging	1.00
R6411:Oxnad1	UTSW	14	32091652	missense	possibly damaging	0.92
R6980:Oxnad1	UTSW	14	32085619	unclassified	probably benign
R7117:Oxnad1	UTSW	14	32091651	missense	probably benign	0.00
R7167:Oxnad1	UTSW	14	32101019	nonsense	probably null
R7197:Oxnad1	UTSW	14	32096516	missense	possibly damaging	0.50
R7809:Oxnad1	UTSW	14	32101005	missense	probably benign
X0020:Oxnad1	UTSW	14	32091761	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TCTTTGACCCTCAGCCCACAGATG -3'
(R):5'- ATCAGGCACTTCGGCCATACTCAC -3'

Sequencing Primer
(F):5'- GATGCCCCTCGAAACCTC -3'
(R):5'- GGTTGCTCACTCTACCATACAC -3'

Posted On

2013-11-08