Mutagenetix > Incidental Mutation

Incidental Mutation 'R2370:Noxred1'

247505

Institutional Source

Beutler Lab

Gene Symbol

Noxred1

Ensembl Gene

ENSMUSG00000072919

Gene Name

NADP+ dependent oxidoreductase domain containing 1

Synonyms

MMRRC Submission

040350-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R2370 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

87221040-87238732 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87227046 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 74 (T74A)

Ref Sequence

ENSEMBL: ENSMUSP00000152360 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021423] [ENSMUST00000221768] [ENSMUST00000222480]

AlphaFold

Q9D3S5

Predicted Effect

probably benign
Transcript: ENSMUST00000021423
AA Change: T74A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000021423
Gene: ENSMUSG00000072919
AA Change: T74A

Domain	Start	End	E-Value	Type
Pfam:F420_oxidored	80	173	1.1e-9	PFAM
low complexity region	261	269	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000221768
AA Change: T74A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000222480
AA Change: T74A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 92.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	C	T	6: 128,580,386	A115T	probably benign	Het
Abca13	A	G	11: 9,256,185	T162A	possibly damaging	Het
Adamts9	T	A	6: 92,860,203	D578V	probably damaging	Het
Atp6v1a	T	C	16: 44,107,040	T295A	probably benign	Het
Brinp1	A	G	4: 68,762,947	S449P	probably damaging	Het
Ccdc40	A	G	11: 119,263,117	T1072A	probably benign	Het
Chil4	C	A	3: 106,214,300	E78*	probably null	Het
Cul7	A	G	17: 46,661,641	Y1250C	probably damaging	Het
Dock3	T	C	9: 106,952,355	D1120G	probably damaging	Het
Gfod1	A	G	13: 43,201,145	M118T	probably benign	Het
Ints5	A	G	19: 8,896,779	T701A	probably benign	Het
Map4k2	G	T	19: 6,341,928	E91*	probably null	Het
Mast4	T	A	13: 102,774,187	E457D	probably damaging	Het
Mettl4	T	C	17: 94,733,148	D404G	probably damaging	Het
Mgat4a	A	G	1: 37,464,533	F58L	probably damaging	Het
Myh4	A	G	11: 67,255,628	K1476E	probably damaging	Het
Myl7	T	C	11: 5,896,684	E175G	probably damaging	Het
Myo18a	A	G	11: 77,777,770	E152G	probably benign	Het
Ncan	G	A	8: 70,112,813	T187I	probably benign	Het
Nfatc3	A	G	8: 106,108,455	Y803C	probably damaging	Het
Nlrp4f	T	C	13: 65,190,846	Y659C	probably damaging	Het
Ntrk2	A	T	13: 59,054,434	M619L	probably benign	Het
Olfr1143	A	T	2: 87,802,815	N142I	probably benign	Het
Orc4	A	G	2: 48,933,099	V120A	probably benign	Het
Polq	T	A	16: 37,073,939	Y2037N	probably damaging	Het
Rimbp2	A	G	5: 128,803,844	C160R	probably damaging	Het
Rps6ka4	T	C	19: 6,830,100	S721G	possibly damaging	Het
Skap2	C	T	6: 51,921,330	R140Q	probably damaging	Het
Srprb	C	T	9: 103,197,556	R838H	probably damaging	Het

Other mutations in Noxred1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01943:Noxred1	APN	12	87223181	missense	probably benign	0.05
IGL01950:Noxred1	APN	12	87221416	missense	probably damaging	1.00
IGL02381:Noxred1	APN	12	87225002	missense	probably damaging	0.98
IGL03109:Noxred1	APN	12	87233438	missense	probably damaging	1.00
PIT4402001:Noxred1	UTSW	12	87227081	missense	probably benign	0.00
PIT4504001:Noxred1	UTSW	12	87224879	missense	possibly damaging	0.89
R0242:Noxred1	UTSW	12	87226979	missense	probably benign	0.02
R0242:Noxred1	UTSW	12	87226979	missense	probably benign	0.02
R0514:Noxred1	UTSW	12	87227064	missense	probably benign	0.01
R0992:Noxred1	UTSW	12	87224226	missense	probably benign	0.15
R1626:Noxred1	UTSW	12	87221255	makesense	probably null
R3692:Noxred1	UTSW	12	87233466	missense	probably benign	0.26
R4084:Noxred1	UTSW	12	87233484	missense	possibly damaging	0.67
R5868:Noxred1	UTSW	12	87224202	missense	possibly damaging	0.54
R6856:Noxred1	UTSW	12	87227036	missense	probably benign	0.00
R6977:Noxred1	UTSW	12	87221317	missense	probably null	0.00
R7388:Noxred1	UTSW	12	87227025	missense	probably damaging	0.99
R7535:Noxred1	UTSW	12	87233432	missense	probably benign	0.00
R7737:Noxred1	UTSW	12	87221362	nonsense	probably null
R7877:Noxred1	UTSW	12	87224987	missense	probably benign	0.34
R7939:Noxred1	UTSW	12	87221331	missense	probably benign	0.00
R8772:Noxred1	UTSW	12	87227093	missense	probably benign	0.14
R8785:Noxred1	UTSW	12	87224166	missense	probably benign	0.00
R9470:Noxred1	UTSW	12	87223055	missense	possibly damaging	0.74
R9718:Noxred1	UTSW	12	87224918	missense	possibly damaging	0.91
Z1176:Noxred1	UTSW	12	87223057	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCCCACACCCACTGTCTAG -3'
(R):5'- CCCTGAAATACTGCTGCAGAAAACTAT -3'

Sequencing Primer
(F):5'- CACTGTCTAGCATTCCCTGG -3'
(R):5'- AGAGGTCCTGAGTTCAATTCCCAG -3'

Posted On

2014-11-11