Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4402001:Noxred1'

555540

Institutional Source

Beutler Lab

Gene Symbol

Noxred1

Ensembl Gene

ENSMUSG00000072919

Gene Name

NADP+ dependent oxidoreductase domain containing 1

Synonyms

4933437F05Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

PIT4402001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87267897-87285375 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87273855 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 62 (I62K)

Ref Sequence

ENSEMBL: ENSMUSP00000152486 (fasta)

Gene Model

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

AlphaFold

Q9D3S5

Predicted Effect

probably benign
Transcript: ENSMUST00000021423
AA Change: I62K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000021423
Gene: ENSMUSG00000072919
AA Change: I62K

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: I62K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Predicted Effect

probably benign
Transcript: ENSMUST00000222480
AA Change: I62K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Coding Region Coverage

1x: 92.8%
3x: 90.3%
10x: 83.2%
20x: 68.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700129C05Rik	T	G	14: 59,380,084 (GRCm39)	L71F	probably damaging	Het
Adamts9	C	T	6: 92,849,328 (GRCm39)	V1044I	probably benign	Het
Alcam	T	C	16: 52,115,497 (GRCm39)	Y207C	probably damaging	Het
Aldh4a1	C	A	4: 139,369,502 (GRCm39)	S351*	probably null	Het
Aoah	C	A	13: 20,978,680 (GRCm39)	S39R	probably benign	Het
Arcn1	A	T	9: 44,656,899 (GRCm39)	V421E	possibly damaging	Het
Ccdc18	A	G	5: 108,306,485 (GRCm39)	E300G	possibly damaging	Het
Cdk2ap2	C	A	19: 4,148,557 (GRCm39)	R126S	probably damaging	Het
Dcun1d4	A	G	5: 73,668,276 (GRCm39)	I39V	probably benign	Het
Fam53b	A	T	7: 132,361,746 (GRCm39)	I94N	probably damaging	Het
Fam83g	A	G	11: 61,594,422 (GRCm39)	H652R	probably damaging	Het
Fanca	A	T	8: 124,039,803 (GRCm39)	M157K	possibly damaging	Het
Flt1	A	T	5: 147,615,049 (GRCm39)	I299N	probably damaging	Het
Gm10800	CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA	CAAGAAAACTGAAAATCA	2: 98,497,361 (GRCm39)		probably null	Het
Gns	A	G	10: 121,212,611 (GRCm39)	Y191C	probably damaging	Het
Grin2a	T	C	16: 9,462,063 (GRCm39)	T690A	possibly damaging	Het
Gsk3b	C	T	16: 37,909,763 (GRCm39)		probably benign	Het
Igsf10	A	G	3: 59,233,000 (GRCm39)	V1911A	probably benign	Het
Igsf3	A	G	3: 101,334,393 (GRCm39)	K157E	probably benign	Het
Inpp5a	T	C	7: 139,091,369 (GRCm39)	Y118H	probably benign	Het
Kmt2a	A	G	9: 44,752,359 (GRCm39)	V1413A	unknown	Het
Mettl9	T	A	7: 120,656,440 (GRCm39)	V190E	probably damaging	Het
Mrps9	T	C	1: 42,935,258 (GRCm39)	L188P	probably benign	Het
Myo9a	A	T	9: 59,777,719 (GRCm39)	R1158S	possibly damaging	Het
Nacad	T	G	11: 6,548,621 (GRCm39)	Q1371P	probably benign	Het
Ncoa1	T	C	12: 4,344,987 (GRCm39)	M787V	probably benign	Het
Or1j4	A	T	2: 36,740,316 (GRCm39)	H86L	probably benign	Het
Or2d3b	T	A	7: 106,514,294 (GRCm39)	D296E	possibly damaging	Het
Or2y17	A	G	11: 49,232,226 (GRCm39)	Y289C	probably damaging	Het
Or52d1	A	G	7: 103,755,657 (GRCm39)	Y57C	probably damaging	Het
Otud6b	A	G	4: 14,818,185 (GRCm39)	Y239H	probably damaging	Het
Pank1	A	G	19: 34,818,366 (GRCm39)	Y233H	probably damaging	Het
Pccb	G	T	9: 100,877,645 (GRCm39)	D286E	probably benign	Het
Plek	A	C	11: 16,940,121 (GRCm39)	L196R	probably benign	Het
Pou6f2	T	C	13: 18,299,931 (GRCm39)	H576R		Het
Rbm47	T	A	5: 66,184,354 (GRCm39)	Y83F	probably damaging	Het
Rbm6	A	T	9: 107,665,049 (GRCm39)	Y787N	probably damaging	Het
Slc8a2	C	A	7: 15,868,419 (GRCm39)	A217E	probably damaging	Het
Suox	G	A	10: 128,507,164 (GRCm39)	A288V	probably damaging	Het
Tbccd1	T	C	16: 22,640,873 (GRCm39)	I501M	probably damaging	Het
Tjp2	C	A	19: 24,075,493 (GRCm39)	G1042*	probably null	Het
Tmtc2	T	C	10: 105,249,268 (GRCm39)	Y155C	probably damaging	Het
Usp7	T	C	16: 8,516,359 (GRCm39)	N600S	probably benign	Het
Zer1	T	C	2: 29,991,132 (GRCm39)	I699V	probably damaging	Het
Zfp142	A	G	1: 74,618,687 (GRCm39)	F227S	probably damaging	Het

Other mutations in Noxred1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01943:Noxred1	APN	12	87,269,955 (GRCm39)	missense	probably benign	0.05
IGL01950:Noxred1	APN	12	87,268,190 (GRCm39)	missense	probably damaging	1.00
IGL02381:Noxred1	APN	12	87,271,776 (GRCm39)	missense	probably damaging	0.98
IGL03109:Noxred1	APN	12	87,280,212 (GRCm39)	missense	probably damaging	1.00
PIT4504001:Noxred1	UTSW	12	87,271,653 (GRCm39)	missense	possibly damaging	0.89
R0242:Noxred1	UTSW	12	87,273,753 (GRCm39)	missense	probably benign	0.02
R0242:Noxred1	UTSW	12	87,273,753 (GRCm39)	missense	probably benign	0.02
R0514:Noxred1	UTSW	12	87,273,838 (GRCm39)	missense	probably benign	0.01
R0992:Noxred1	UTSW	12	87,271,000 (GRCm39)	missense	probably benign	0.15
R1626:Noxred1	UTSW	12	87,268,029 (GRCm39)	makesense	probably null
R2370:Noxred1	UTSW	12	87,273,820 (GRCm39)	missense	probably benign	0.00
R3692:Noxred1	UTSW	12	87,280,240 (GRCm39)	missense	probably benign	0.26
R4084:Noxred1	UTSW	12	87,280,258 (GRCm39)	missense	possibly damaging	0.67
R5868:Noxred1	UTSW	12	87,270,976 (GRCm39)	missense	possibly damaging	0.54
R6856:Noxred1	UTSW	12	87,273,810 (GRCm39)	missense	probably benign	0.00
R6977:Noxred1	UTSW	12	87,268,091 (GRCm39)	missense	probably null	0.00
R7388:Noxred1	UTSW	12	87,273,799 (GRCm39)	missense	probably damaging	0.99
R7535:Noxred1	UTSW	12	87,280,206 (GRCm39)	missense	probably benign	0.00
R7737:Noxred1	UTSW	12	87,268,136 (GRCm39)	nonsense	probably null
R7877:Noxred1	UTSW	12	87,271,761 (GRCm39)	missense	probably benign	0.34
R7939:Noxred1	UTSW	12	87,268,105 (GRCm39)	missense	probably benign	0.00
R8772:Noxred1	UTSW	12	87,273,867 (GRCm39)	missense	probably benign	0.14
R8785:Noxred1	UTSW	12	87,270,940 (GRCm39)	missense	probably benign	0.00
R9470:Noxred1	UTSW	12	87,269,829 (GRCm39)	missense	possibly damaging	0.74
R9718:Noxred1	UTSW	12	87,271,692 (GRCm39)	missense	possibly damaging	0.91
Z1176:Noxred1	UTSW	12	87,269,831 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGGACTCTGGCCTCCTAGT -3'
(R):5'- ACTGCTGCAGAAAACTATAGCA -3'

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

Posted On

2019-06-07