Mutagenetix > Incidental Mutation

Incidental Mutation 'R6411:Oxnad1'

514608

Institutional Source

Beutler Lab

Gene Symbol

Oxnad1

Ensembl Gene

ENSMUSG00000021906

Gene Name

oxidoreductase NAD-binding domain containing 1

Synonyms

2410002F01Rik

MMRRC Submission

044384-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R6411 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

31807331-31825159 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 31813609 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 3 (H3Q)

Ref Sequence

ENSEMBL: ENSMUSP00000153925 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022462] [ENSMUST00000164868] [ENSMUST00000165523] [ENSMUST00000166810] [ENSMUST00000168986] [ENSMUST00000169649] [ENSMUST00000170600] [ENSMUST00000171598] [ENSMUST00000227845]

AlphaFold

Q8VE38

Predicted Effect

probably benign
Transcript: ENSMUST00000022462
AA Change: H3Q

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000022462
Gene: ENSMUSG00000021906
AA Change: H3Q

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

probably benign
Transcript: ENSMUST00000164868
AA Change: H3Q

PolyPhen 2 Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000125791
Gene: ENSMUSG00000021906
AA Change: H3Q

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000165523
AA Change: H3Q

PolyPhen 2 Score 0.608 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

unknown
Transcript: ENSMUST00000166810
AA Change: H3Q

Predicted Effect

probably benign
Transcript: ENSMUST00000168986
AA Change: H3Q

PolyPhen 2 Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000126372
Gene: ENSMUSG00000021906
AA Change: H3Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169078

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169649
AA Change: H3Q

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170600
AA Change: H3Q

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000130998
Gene: ENSMUSG00000021906
AA Change: H3Q

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

Predicted Effect

probably benign
Transcript: ENSMUST00000171598
AA Change: H3Q

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000132162
Gene: ENSMUSG00000021906
AA Change: H3Q

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000227845
AA Change: H3Q

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

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: ENSMUST00000171849

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Capn7	A	G	14: 31,062,053 (GRCm39)	E55G	probably benign	Het
Carmil2	G	T	8: 106,423,658 (GRCm39)	D1211Y	probably damaging	Het
Carns1	G	T	19: 4,216,463 (GRCm39)	A573E	probably damaging	Het
Dennd4a	A	G	9: 64,779,181 (GRCm39)	R555G	probably benign	Het
Guf1	T	C	5: 69,717,854 (GRCm39)	I204T	possibly damaging	Het
Hgsnat	C	T	8: 26,436,303 (GRCm39)	V584M	possibly damaging	Het
Izumo2	A	T	7: 44,369,184 (GRCm39)	Q186L	probably benign	Het
Lmtk2	A	T	5: 144,111,404 (GRCm39)	Q708L	probably damaging	Het
Mitf	T	C	6: 97,987,433 (GRCm39)		probably null	Het
Myo9b	T	A	8: 71,775,599 (GRCm39)	Y340*	probably null	Het
Naip5	A	G	13: 100,359,913 (GRCm39)	I441T	probably benign	Het
Nbea	A	C	3: 55,712,778 (GRCm39)	S2100A	probably benign	Het
Or10ag60	G	T	2: 87,438,317 (GRCm39)	C195F	probably damaging	Het
Or2t47	T	A	11: 58,442,483 (GRCm39)	Y194F	probably damaging	Het
Or5a3	G	A	19: 12,400,350 (GRCm39)	V226I	probably benign	Het
Or6b1	A	G	6: 42,815,654 (GRCm39)	T280A	possibly damaging	Het
Rab8b	A	T	9: 66,761,948 (GRCm39)		probably null	Het
Rfc4	T	C	16: 22,932,823 (GRCm39)	*371W	probably null	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Safb2	A	G	17: 56,878,289 (GRCm39)	S24P	probably benign	Het
Sele	G	A	1: 163,876,984 (GRCm39)	V87I	probably benign	Het
Slc8b1	T	A	5: 120,659,191 (GRCm39)	W212R	probably damaging	Het
Vmn1r88	A	T	7: 12,911,970 (GRCm39)	I109F	probably damaging	Het
Zfp758	A	T	17: 22,594,075 (GRCm39)	D155V	possibly damaging	Het

Other mutations in Oxnad1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0480:Oxnad1	UTSW	14	31,821,437 (GRCm39)	missense	probably damaging	1.00
R0879:Oxnad1	UTSW	14	31,821,553 (GRCm39)	missense	probably damaging	1.00
R1482:Oxnad1	UTSW	14	31,821,590 (GRCm39)	critical splice donor site	probably null
R1526:Oxnad1	UTSW	14	31,824,244 (GRCm39)	missense	probably benign	0.00
R4649:Oxnad1	UTSW	14	31,824,366 (GRCm39)	makesense	probably null
R4703:Oxnad1	UTSW	14	31,817,427 (GRCm39)	missense	probably damaging	1.00
R6980:Oxnad1	UTSW	14	31,807,576 (GRCm39)	unclassified	probably benign
R7117:Oxnad1	UTSW	14	31,813,608 (GRCm39)	missense	probably benign	0.00
R7167:Oxnad1	UTSW	14	31,822,976 (GRCm39)	nonsense	probably null
R7197:Oxnad1	UTSW	14	31,818,473 (GRCm39)	missense	possibly damaging	0.50
R7707:Oxnad1	UTSW	14	31,823,965 (GRCm39)	splice site	probably null
R7809:Oxnad1	UTSW	14	31,822,962 (GRCm39)	missense	probably benign
R8139:Oxnad1	UTSW	14	31,814,048 (GRCm39)	missense	possibly damaging	0.68
R8421:Oxnad1	UTSW	14	31,821,431 (GRCm39)	missense	probably benign	0.05
R8475:Oxnad1	UTSW	14	31,823,250 (GRCm39)	splice site	probably null
X0020:Oxnad1	UTSW	14	31,813,718 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AGTGCTATCTGCTCTGGCTC -3'
(R):5'- TCTTGAGTTTGAAGGGACCCC -3'

Sequencing Primer
(F):5'- TCCACGCAGGGTCAGGAG -3'
(R):5'- CCATCAGCAGATCAGATCTC -3'

Posted On

2018-05-04