Mutagenetix > Incidental Mutation

Incidental Mutation 'R7877:Noxred1'

608529

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: 0.064) question?

Stock #

R7877 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87221040-87238732 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 87224987 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 136 (A136V)

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: A136V

PolyPhen 2 Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000021423
Gene: ENSMUSG00000072919
AA Change: A136V

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: A136V

PolyPhen 2 Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000222480
AA Change: A136V

PolyPhen 2 Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	G	A	17: 9,001,833	C388Y	probably damaging	Het
1700029J07Rik	T	A	8: 45,970,399	K92M	probably damaging	Het
4930522L14Rik	G	A	5: 109,736,364	H543Y	probably damaging	Het
Abca1	A	T	4: 53,046,135	V1711E	possibly damaging	Het
Abca3	A	T	17: 24,384,023	K531*	probably null	Het
Adgrf5	A	T	17: 43,441,838	D557V	possibly damaging	Het
Adgrl3	A	G	5: 81,694,620	E865G	probably benign	Het
Adprhl1	T	A	8: 13,225,316	R481*	probably null	Het
Afap1l1	T	A	18: 61,746,782	D339V	probably damaging	Het
Atp9b	T	A	18: 80,847,197	H309L		Het
Baiap3	A	G	17: 25,251,138	V122A	probably damaging	Het
Btg4	T	C	9: 51,117,940	S142P	probably benign	Het
C1ra	G	A	6: 124,517,725	E316K	probably benign	Het
Ccng2	C	G	5: 93,273,343	S237R	probably benign	Het
Cdca2	T	A	14: 67,677,216	T865S	probably benign	Het
Cdk12	A	G	11: 98,240,835	Y964C	unknown	Het
Cenpo	A	T	12: 4,214,573	F273Y	probably damaging	Het
Chac1	T	A	2: 119,353,506	D196E	probably damaging	Het
Clec4n	T	C	6: 123,232,104	F43L	probably benign	Het
Colgalt1	T	A	8: 71,621,864	C407S	probably damaging	Het
Csnk1g1	T	A	9: 65,999,548		probably null	Het
Cyp2b23	T	A	7: 26,686,426	E2V	probably damaging	Het
Cyp51	T	A	5: 4,102,929	K91M	probably damaging	Het
Dnah8	G	T	17: 30,663,374	G640V	probably benign	Het
Dnajc2	G	T	5: 21,760,639	S505R	possibly damaging	Het
Fam124b	A	T	1: 80,213,336	L110H	probably damaging	Het
Fam49a	A	C	12: 12,364,797	Y263S	probably benign	Het
Fem1b	T	A	9: 62,796,562	Y472F	probably benign	Het
Frem1	A	G	4: 83,013,812		probably null	Het
Gabrg1	A	T	5: 70,816,072	D46E	probably damaging	Het
Gbp4	T	C	5: 105,118,295	K627E	probably benign	Het
Glis1	A	G	4: 107,634,703	D776G	probably damaging	Het
Gm4847	A	G	1: 166,640,006	V207A	possibly damaging	Het
Gm7298	T	A	6: 121,782,782	Y1213*	probably null	Het
Gm8229	T	A	14: 44,366,576	L74*	probably null	Het
Hc	A	T	2: 34,997,399	Y1364*	probably null	Het
Hnrnpa2b1	A	T	6: 51,466,322	S186R	unknown	Het
Hrh4	A	G	18: 13,022,525	I374V	possibly damaging	Het
Ighmbp2	A	G	19: 3,261,490	L975P	probably damaging	Het
Intu	G	A	3: 40,699,792	V905I	probably benign	Het
Large1	T	A	8: 73,116,443	R151W	probably damaging	Het
Limd2	G	A	11: 106,159,178	T24M	probably benign	Het
Med16	A	T	10: 79,898,372	C569*	probably null	Het
Mettl1	T	G	10: 127,044,521	V104G	possibly damaging	Het
Mgat4c	A	G	10: 102,385,039	T61A	probably benign	Het
Mrps31	T	A	8: 22,424,351	Y238N	probably benign	Het
Mrs2	T	C	13: 24,997,130	E236G	probably damaging	Het
Muc5ac	G	C	7: 141,809,303	G2117A	unknown	Het
Obscn	T	A	11: 59,133,762	D484V	probably damaging	Het
Picalm	C	A	7: 90,130,668	H32Q	probably benign	Het
Pik3r5	G	A	11: 68,490,605	G206R	probably damaging	Het
Plekhh2	G	A	17: 84,575,006	C680Y	probably benign	Het
Plxna1	A	G	6: 89,323,259	F1614S	probably damaging	Het
Ppip5k1	T	C	2: 121,316,754	M1129V	probably benign	Het
Prp2	C	T	6: 132,595,965	T7I	unknown	Het
Rrbp1	A	T	2: 143,947,895		probably benign	Het
Sdhaf3	C	T	6: 7,038,855	T59M	probably benign	Het
Slc17a6	T	A	7: 51,625,505	I104N	probably benign	Het
Slc35c1	A	T	2: 92,459,057	W48R	probably damaging	Het
Slc5a4b	A	T	10: 76,075,052	C317S	probably damaging	Het
Smim13	G	T	13: 41,250,174		probably benign	Het
Snrpg	T	C	6: 86,378,779	V76A	probably benign	Het
Sntb2	C	T	8: 107,011,532	T509I	probably benign	Het
Sptbn1	T	C	11: 30,129,601	D1276G	possibly damaging	Het
Sptbn2	A	G	19: 4,744,262	E1498G	possibly damaging	Het
Stau1	T	A	2: 166,950,867	N393Y	possibly damaging	Het
Tars2	A	T	3: 95,746,089	S500T	probably damaging	Het
Tbc1d23	A	T	16: 57,173,125	D559E	probably benign	Het
Trav14-2	T	C	14: 53,641,051	Y64H	possibly damaging	Het
Trpm3	A	C	19: 22,904,784	E838D	probably benign	Het
Vmn1r23	G	A	6: 57,926,556	A79V	probably benign	Het
Vmn1r48	G	T	6: 90,036,449	N131K	probably benign	Het
Vmn2r18	A	T	5: 151,584,972	M229K	probably damaging	Het
Zbtb4	G	A	11: 69,776,037	R56K	probably benign	Het
Zfp616	G	T	11: 74,084,362	G486W	probably damaging	Het
Zkscan8	A	T	13: 21,520,410	F453Y	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
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
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'- AGCATGCCTAACTCCAAGAG -3'
(R):5'- GCTTAAGCTCACAGAGGCTTC -3'

Sequencing Primer
(F):5'- CTAACTCCAAGAGGTAGGCCAAG -3'
(R):5'- CAGAGGCTTCCAGGAACCAG -3'

Posted On

2019-12-20