Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4504001:Noxred1'

556022

Institutional Source

Beutler Lab

Gene Symbol

Noxred1

Ensembl Gene

ENSMUSG00000072919

Gene Name

NADP+ dependent oxidoreductase domain containing 1

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

PIT4504001 (G1)

Quality Score

139.008

Status

Not validated

Chromosome

Chromosomal Location

87221040-87238732 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87224879 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 172 (V172A)

Ref Sequence

ENSEMBL: ENSMUSP00000152486 (fasta)

Gene Model

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

AlphaFold

Q9D3S5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021423
AA Change: V172A

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000021423
Gene: ENSMUSG00000072919
AA Change: V172A

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

possibly damaging
Transcript: ENSMUST00000221768
AA Change: V172A

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000222480
AA Change: V172A

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

1x: 92.8%
3x: 90.6%
10x: 84.7%
20x: 71.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb2	T	A	2: 103,717,192	C970*	probably null	Het
Adgrv1	G	A	13: 81,559,352	P1312S	probably damaging	Het
Als2cr12	T	A	1: 58,659,099	I348F	probably benign	Het
Arid5a	T	C	1: 36,317,625	I116T	probably damaging	Het
Bank1	C	A	3: 136,100,419	D485Y	probably damaging	Het
Cbln3	C	T	14: 55,883,499	V122M	probably damaging	Het
Cox10	C	T	11: 63,964,216	C413Y	possibly damaging	Het
Ctsll3	T	A	13: 60,801,009	D44V	probably benign	Het
Cuzd1	A	T	7: 131,309,800	N483K	possibly damaging	Het
Dcaf4	G	A	12: 83,534,011		probably null	Het
Ddx60	A	G	8: 61,958,113	T470A	probably benign	Het
Dennd1b	T	C	1: 139,040,004	V44A	probably benign	Het
Dusp16	C	A	6: 134,739,883	V154F	possibly damaging	Het
Ect2	G	A	3: 27,126,948	R586*	probably null	Het
Ermard	T	A	17: 15,058,822	C460*	probably null	Het
Fat2	C	T	11: 55,256,110	G4020D	possibly damaging	Het
Galnt16	G	T	12: 80,592,417	E402*	probably null	Het
Gm5414	T	G	15: 101,625,823	D282A	probably damaging	Het
Gm6741	C	T	17: 91,236,916	Q36*	probably null	Het
Gm7356	A	T	17: 14,001,458	L103Q	probably damaging	Het
Hcn1	A	G	13: 117,975,875	T792A	possibly damaging	Het
Hemgn	T	C	4: 46,395,863	N458D	probably benign	Het
Hesx1	C	A	14: 27,001,881	D140E	probably benign	Het
Hfe2	A	T	3: 96,528,497	D357V	probably damaging	Het
Hmgcr	A	G	13: 96,663,097	I163T	possibly damaging	Het
Igfbpl1	T	C	4: 45,813,469	T249A	possibly damaging	Het
Il33	A	T	19: 29,952,739	H78L	probably benign	Het
Inpp4b	A	T	8: 82,041,935	D691V	probably damaging	Het
Itpr2	T	A	6: 146,229,871	N1945I	probably damaging	Het
Lnpep	A	G	17: 17,579,027	V122A	probably benign	Het
Lrp2	T	C	2: 69,475,403	D2938G	probably damaging	Het
Lrrc8c	A	T	5: 105,608,537	Y726F	probably benign	Het
Magi3	G	T	3: 104,015,526	Q1292K	probably benign	Het
Mllt3	A	C	4: 87,774,087	F546L	probably damaging	Het
Mrpl14	A	G	17: 45,698,221	K82R	probably benign	Het
Obscn	A	T	11: 59,133,122	I574N	probably damaging	Het
Olfr133	A	G	17: 38,149,169	T194A	probably benign	Het
Olfr175-ps1	T	A	16: 58,824,308	T134S	probably benign	Het
Osbpl11	T	A	16: 33,234,494	V649D	probably benign	Het
Pdlim2	G	T	14: 70,166,130	P278T	probably benign	Het
Pm20d2	A	C	4: 33,183,152	L223V	probably damaging	Het
Pmpcb	G	T	5: 21,743,390	R223L	probably damaging	Het
Pole2	A	T	12: 69,209,985	Y255*	probably null	Het
Rims1	T	A	1: 22,397,460	I317L		Het
Scnn1g	C	A	7: 121,742,331	H239N	probably benign	Het
Spag17	A	G	3: 100,103,110		probably null	Het
Tenm3	A	T	8: 48,293,657	F1038I	probably damaging	Het
Tshz2	T	C	2: 169,886,051	F856L	probably damaging	Het
Ubtf	A	G	11: 102,306,682	S715P	unknown	Het
Usp13	A	C	3: 32,905,430	S557R	probably damaging	Het
Usp19	T	A	9: 108,492,970	S43T	probably benign	Het
Vmn2r7	A	T	3: 64,715,976	Y308N	probably benign	Het
Zfp455	A	G	13: 67,198,621	D32G	probably damaging	Het
Zfp512	T	A	5: 31,476,881		probably null	Het
Zfr	A	G	15: 12,166,158	E838G	possibly 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
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
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'- CAAACCCCAAGTGCTGTTTG -3'
(R):5'- GCTGATGTGCAGGTCAAACTTC -3'

Sequencing Primer
(F):5'- GTTTGTGTAAAACTGGAGGAAGAC -3'
(R):5'- GATGTGCAGGTCAAACTTCTCTGC -3'

Posted On

2019-06-07