Mutagenetix > Incidental Mutation

Incidental Mutation 'R8785:Noxred1'

670584

Institutional Source

Beutler Lab

Gene Symbol

Noxred1

Ensembl Gene

ENSMUSG00000072919

Gene Name

NADP+ dependent oxidoreductase domain containing 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R8785 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87221040-87238732 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87224166 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 227 (N227S)

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: N227S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000021423
Gene: ENSMUSG00000072919
AA Change: N227S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000222480
AA Change: N227S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (72/72)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123L14Rik	A	T	6: 96,164,890	M391K	possibly damaging	Het
2410089E03Rik	T	C	15: 8,174,760	F39S	probably benign	Het
9530053A07Rik	C	T	7: 28,154,707	H1699Y	probably damaging	Het
Abra	T	A	15: 41,866,260	D248V	probably damaging	Het
Acsm1	A	T	7: 119,662,230	T557S	probably benign	Het
Actn2	C	A	13: 12,277,431	A648S	probably benign	Het
Adam18	A	T	8: 24,650,895	I280N	probably damaging	Het
Adgb	T	A	10: 10,357,966	I1256F	probably damaging	Het
Afap1	A	T	5: 35,950,960	K217*	probably null	Het
Amigo1	T	C	3: 108,187,350	V55A	probably benign	Het
Ank2	G	A	3: 126,997,921	R799W	probably damaging	Het
Atf7	T	C	15: 102,546,539	T265A	probably benign	Het
Atf7ip	A	T	6: 136,587,164	T794S	probably damaging	Het
Atp13a3	A	G	16: 30,350,982	I426T	probably benign	Het
Atp5a1	T	A	18: 77,779,223	D265E	probably benign	Het
Cct6b	A	G	11: 82,741,331	L277P	probably damaging	Het
Cdh23	T	A	10: 60,311,335	T2745S	probably damaging	Het
Cfap44	C	T	16: 44,455,532	T1385M	probably damaging	Het
Cpa1	C	T	6: 30,645,252	T409I	probably benign	Het
Csmd3	G	A	15: 48,314,086	A352V	probably benign	Het
Cyp11b2	C	T	15: 74,852,112	A341T	probably benign	Het
Ddx43	A	T	9: 78,421,759	E630V	possibly damaging	Het
Dusp3	C	G	11: 101,981,734	E11Q	probably benign	Het
Eme1	C	A	11: 94,650,621	G125V	probably benign	Het
Fam126a	A	G	5: 23,964,906	S482P	probably damaging	Het
Fbxo7	C	T	10: 86,024,546	P85S	probably benign	Het
Gcc2	T	A	10: 58,271,264	I774K	probably benign	Het
Gldc	A	T	19: 30,115,234	C762S	probably damaging	Het
Gm15448	G	A	7: 3,816,929	S663L	unknown	Het
Gnmt	T	G	17: 46,727,387	D71A	probably damaging	Het
Golgb1	T	A	16: 36,919,744	V2856E	probably damaging	Het
Gpr160	T	C	3: 30,896,774	S332P	probably damaging	Het
Gria4	A	C	9: 4,456,106	N731K	probably damaging	Het
Gria4	A	G	9: 4,795,189	I29T	possibly damaging	Het
Grk1	C	T	8: 13,408,058		probably benign	Het
Ints11	G	A	4: 155,869,708	V6I	probably benign	Het
Irgq	C	A	7: 24,533,580	T282K	probably damaging	Het
Itih2	T	A	2: 10,097,969	T785S	probably benign	Het
Lrrc37a	G	A	11: 103,456,416	T3151I	probably damaging	Het
Macf1	T	A	4: 123,448,260		probably null	Het
Mcm6	T	C	1: 128,334,798	N725S	probably benign	Het
Mmp14	T	A	14: 54,436,775	F181I	probably damaging	Het
Ms4a6d	A	G	19: 11,593,036		probably benign	Het
Myf5	A	G	10: 107,485,687	M82T	probably benign	Het
Neb	A	G	2: 52,169,890	S6330P	probably damaging	Het
Nlrp2	T	A	7: 5,327,549	H616L	probably damaging	Het
Nup214	T	A	2: 32,034,453	F1665I	probably damaging	Het
Olfr1253	T	C	2: 89,752,954		probably benign	Het
Olfr187	T	C	16: 59,036,167	D190G	probably damaging	Het
Olfr822	A	T	10: 130,074,616	I69F	probably benign	Het
Pgk2	A	G	17: 40,207,886	V217A	probably damaging	Het
Polr3a	T	C	14: 24,452,315	T1257A	probably benign	Het
Pwwp2b	A	T	7: 139,256,170	H509L	possibly damaging	Het
Qser1	C	T	2: 104,787,753	V815I	probably damaging	Het
Rif1	T	G	2: 52,110,481	S1316A	probably benign	Het
Rnf121	T	A	7: 102,029,126	K171N	probably damaging	Het
Samd9l	G	A	6: 3,377,064	L66F	probably damaging	Het
Serac1	A	T	17: 6,044,202	I626N	probably damaging	Het
Setx	T	C	2: 29,145,263	C587R	probably damaging	Het
Sf3a2	ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT	ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT	10: 80,804,437		probably benign	Het
Shc4	A	G	2: 125,649,144		probably null	Het
Slc16a8	C	T	15: 79,252,313	V230M	possibly damaging	Het
Slc5a4a	GCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGC	GCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGC	10: 76,150,404		probably benign	Het
Slit3	A	G	11: 35,670,141	H971R	probably damaging	Het
Sp100	T	A	1: 85,699,751		probably benign	Het
Stfa1	C	A	16: 36,285,253	Y115*	probably null	Het
Syna	C	T	5: 134,559,869	M75I	probably benign	Het
Timm44	A	T	8: 4,270,019	S50T	probably benign	Het
Trim25	G	A	11: 89,013,514	V378I	probably benign	Het
Ttn	T	C	2: 76,895,560	S6111G	unknown	Het
Urb1	C	A	16: 90,803,423	M157I	probably benign	Het
Zbtb4	C	A	11: 69,778,163	Q571K	possibly damaging	Het
Zfp985	A	T	4: 147,583,623	H316L	probably damaging	Het
Zfp990	A	T	4: 145,537,676	I415L	probably benign	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
R2370:Noxred1	UTSW	12	87227046	missense	probably benign	0.00
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
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'- CCAAGCTCTTTGCATTCCAAAC -3'
(R):5'- GGCCTGAATTCAGATGCAGTAG -3'

Sequencing Primer
(F):5'- GCTTTGTGCTTTACAGACACAGAC -3'
(R):5'- CCTGAATTCAGATGCAGTAGATTGG -3'

Posted On

2021-04-30