Mutagenetix > Incidental Mutations

Incidental Mutation 'R1954:Ndor1'

217534

Institutional Source

Beutler Lab

Gene Symbol

Ndor1

Ensembl Gene

ENSMUSG00000006471

Gene Name

NADPH dependent diflavin oxidoreductase 1

Synonyms

NR1, 4930447P04Rik

MMRRC Submission

039968-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.929) question?

Stock #

R1954 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25244821-25256022 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25255293 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 20 (E20G)

Ref Sequence

ENSEMBL: ENSMUSP00000125018 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100329] [ENSMUST00000104998] [ENSMUST00000114349] [ENSMUST00000132128] [ENSMUST00000147866] [ENSMUST00000148589] [ENSMUST00000228052]

Predicted Effect

probably benign
Transcript: ENSMUST00000100329
AA Change: E20G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000097903
Gene: ENSMUSG00000006471
AA Change: E20G

Domain	Start	End	E-Value	Type
Pfam:Flavodoxin_1	8	124	2.3e-23	PFAM
Pfam:FAD_binding_1	134	354	8e-50	PFAM
Pfam:NAD_binding_1	389	495	2.1e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000104998

SMART Domains

Protein: ENSMUSP00000100614
Gene: ENSMUSG00000078201

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
transmembrane domain	50	72	N/A	INTRINSIC
transmembrane domain	79	101	N/A	INTRINSIC
transmembrane domain	111	130	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114349
AA Change: E20G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000109989
Gene: ENSMUSG00000006471
AA Change: E20G

Domain	Start	End	E-Value	Type
Pfam:Flavodoxin_1	8	145	2.3e-32	PFAM
Pfam:FAD_binding_1	201	421	2e-48	PFAM
Pfam:NAD_binding_1	456	561	1.7e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123472

Predicted Effect

possibly damaging
Transcript: ENSMUST00000132128
AA Change: E20G

PolyPhen 2 Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000125018
Gene: ENSMUSG00000006471
AA Change: E20G

Domain	Start	End	E-Value	Type
PDB:4H2D\|B	1	48	2e-9	PDB
SCOP:d1f4pa_	4	57	4e-9	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132591

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137355

Predicted Effect

unknown
Transcript: ENSMUST00000141808
AA Change: E18G

SMART Domains

Protein: ENSMUSP00000123247
Gene: ENSMUSG00000006471
AA Change: E18G

Domain	Start	End	E-Value	Type
Pfam:Flavodoxin_1	7	120	8.1e-25	PFAM
Pfam:FAD_binding_1	167	225	9.7e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000147866
AA Change: E20G

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000125259
Gene: ENSMUSG00000006471
AA Change: E20G

Domain	Start	End	E-Value	Type
low complexity region	21	34	N/A	INTRINSIC
low complexity region	64	73	N/A	INTRINSIC
Pfam:Flavodoxin_1	93	196	4.2e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000148589
AA Change: E20G

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000123958
Gene: ENSMUSG00000006471
AA Change: E20G

Domain	Start	End	E-Value	Type
PDB:4H2D\|B	1	49	7e-10	PDB
SCOP:d1f4pa_	4	45	3e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000228052

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

97% (101/104)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an NADPH-dependent diflavin reductase that contains both flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD) binding domains. The encoded protein catalyzes the transfer of electrons from NADPH through FAD and FMN cofactors to potential redox partners. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]

Allele List at MGI

Other mutations in this stock

Total: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700007G11Rik	A	T	5: 98,566,753		probably benign	Het
Adamts15	T	A	9: 30,910,708	M478L	probably benign	Het
Akap8l	T	A	17: 32,336,736	Y123F	possibly damaging	Het
Anapc4	T	G	5: 52,846,625		probably benign	Het
Arap3	A	G	18: 37,982,002	V987A	probably damaging	Het
Atp2b4	T	A	1: 133,739,992	T105S	probably damaging	Het
Atp6v0d1	A	G	8: 105,565,893	L7P	probably damaging	Het
Atp6v1b2	T	C	8: 69,105,903	V341A	possibly damaging	Het
Baz2b	C	A	2: 59,968,743	A346S	probably benign	Het
Brpf3	G	A	17: 28,806,559	S202N	probably benign	Het
Btnl4	T	C	17: 34,472,930	K233E	possibly damaging	Het
Capn7	A	G	14: 31,360,150	T438A	probably damaging	Het
Cars2	A	T	8: 11,550,286	Y68N	probably damaging	Het
Cbx2	G	T	11: 119,028,340	G244W	probably damaging	Het
Ccr4	A	T	9: 114,492,685	V104D	probably damaging	Het
Cdc5l	T	C	17: 45,426,516		probably null	Het
Cep170	A	T	1: 176,756,384	C810S	probably benign	Het
Clp1	T	C	2: 84,724,051	D258G	probably damaging	Het
Clstn3	T	C	6: 124,459,298	E164G	possibly damaging	Het
Col28a1	T	C	6: 7,998,516	E1131G	probably damaging	Het
Cps1	A	G	1: 67,195,196	D914G	possibly damaging	Het
Ctnnal1	C	T	4: 56,817,242		probably benign	Het
Cyp2c38	A	G	19: 39,404,687	L312P	probably damaging	Het
Cytip	T	C	2: 58,148,253	N99D	possibly damaging	Het
Dennd4a	A	T	9: 64,852,467	T285S	probably benign	Het
Dhx8	A	G	11: 101,753,279	S842G	probably damaging	Het
Disp1	A	T	1: 183,088,543	M771K	probably damaging	Het
Dnah17	A	G	11: 118,024,731	I4326T	probably damaging	Het
Efcab7	T	C	4: 99,900,690	F345L	probably damaging	Het
Erc1	G	T	6: 119,797,305	Q230K	probably damaging	Het
Ern1	A	T	11: 106,421,974		probably benign	Het
Espl1	T	C	15: 102,298,388	Y96H	probably damaging	Het
Fam135a	A	T	1: 24,029,602	L533I	probably damaging	Het
Fat2	G	A	11: 55,311,084	T388I	probably benign	Het
Galnt1	T	G	18: 24,271,774		probably benign	Het
Glmn	A	G	5: 107,572,377	F212S	probably damaging	Het
Gm3604	A	T	13: 62,369,211	N444K	probably damaging	Het
Gm5434	A	G	12: 36,090,596		probably benign	Het
Gm8989	A	C	7: 106,329,681	D336E	probably damaging	Het
H2-M10.3	T	C	17: 36,367,498	D145G	probably damaging	Het
Hic2	T	A	16: 17,258,993	L562Q	probably damaging	Het
Hip1r	G	T	5: 124,001,844	E1003D	probably damaging	Het
Hist1h1c	T	C	13: 23,739,402	V185A	unknown	Het
Hist1h1d	A	G	13: 23,555,516		probably benign	Het
Hsfy2	C	T	1: 56,637,183	C65Y	probably benign	Het
Inpp1	T	C	1: 52,794,629	T103A	probably damaging	Het
Ints5	T	C	19: 8,894,896	V73A	probably damaging	Het
Iqch	A	T	9: 63,548,016	D166E	probably benign	Het
Klhdc3	A	T	17: 46,677,975	N96K	probably damaging	Het
Klk1b8	C	T	7: 43,953,848		probably benign	Het
Klrb1	T	C	6: 128,723,073		probably null	Het
Krt71	C	A	15: 101,735,466	G446*	probably null	Het
Lars	G	A	18: 42,210,050	R1101C	probably damaging	Het
Lemd3	G	T	10: 120,978,940	S129R	probably damaging	Het
Lrp1b	A	G	2: 40,858,441	L3015P	probably damaging	Het
Mdga2	T	C	12: 66,486,708		probably benign	Het
Mlst8	A	T	17: 24,477,221	I178N	probably damaging	Het
Mon2	A	T	10: 123,038,483	I320N	probably damaging	Het
Morc2b	T	C	17: 33,137,490	Y436C	probably damaging	Het
Moxd1	T	A	10: 24,279,883	M295K	probably benign	Het
Mrps5	T	A	2: 127,596,897		probably null	Het
Mtor	C	A	4: 148,468,273	S744R	probably damaging	Het
Myo3a	T	A	2: 22,241,226	D61E	probably damaging	Het
Nars	C	T	18: 64,500,564	R545Q	probably damaging	Het
Ncoa6	A	G	2: 155,406,821	V1521A	possibly damaging	Het
Nipsnap3b	T	C	4: 53,017,213		probably benign	Het
Notch3	G	T	17: 32,166,678	A39E	probably benign	Het
Olfr1336	G	T	7: 6,461,145	W212L	probably benign	Het
Olfr237-ps1	T	C	6: 43,153,977	I224T	possibly damaging	Het
Olfr345	A	G	2: 36,640,215	M59V	possibly damaging	Het
Otud3	T	C	4: 138,898,032	K237R	possibly damaging	Het
Papola	T	A	12: 105,828,273		probably null	Het
Parl	T	A	16: 20,302,327	M1L	possibly damaging	Het
Parp14	G	T	16: 35,858,301	N432K	probably benign	Het
Patz1	T	G	11: 3,291,088	S159A	probably damaging	Het
Prpf6	T	G	2: 181,632,077	M338R	probably benign	Het
Psd3	A	G	8: 67,697,075	L343P	probably damaging	Het
Ptpn23	A	T	9: 110,386,325	N1422K	probably damaging	Het
Rab19	A	T	6: 39,384,082	T55S	probably benign	Het
Sh3yl1	A	G	12: 30,922,333	K34E	possibly damaging	Het
Skint8	T	A	4: 111,950,081	F321L	possibly damaging	Het
Slc25a46	A	T	18: 31,600,241		probably null	Het
Slc26a3	T	C	12: 31,450,816	L184S	probably damaging	Het
Slc39a10	A	T	1: 46,835,174	S323T	possibly damaging	Het
Sorbs2	G	T	8: 45,745,738	R20L	probably benign	Het
Stk32a	A	T	18: 43,212,025	D13V	probably benign	Het
Tab2	T	C	10: 7,919,330	T463A	probably damaging	Het
Tenm2	T	A	11: 36,047,547	N1433I	possibly damaging	Het
Tmem200c	A	T	17: 68,840,961	I180F	probably damaging	Het
Tmem232	G	T	17: 65,484,487	H129N	probably benign	Het
Tmem242	T	C	17: 5,439,579	T47A	possibly damaging	Het
Ube2d1	A	T	10: 71,285,123	M1K	probably null	Het
Uckl1	T	C	2: 181,570,527	Q332R	probably benign	Het
Unc5b	T	C	10: 60,769,265		probably benign	Het
Vmn2r114	T	C	17: 23,311,112	Y107C	probably benign	Het
Vmn2r82	A	T	10: 79,396,056	S630C	probably damaging	Het
Wdr25	T	A	12: 108,898,541	V204E	probably damaging	Het
Xab2	T	A	8: 3,616,094	D227V	probably damaging	Het
Zfp286	A	G	11: 62,783,708	S104P	possibly damaging	Het
Zfp345	T	C	2: 150,474,821	D22G	probably damaging	Het

Other mutations in Ndor1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01308:Ndor1	APN	2	25250139	missense	probably benign	0.05
IGL02174:Ndor1	APN	2	25249194	missense	possibly damaging	0.49
IGL02366:Ndor1	APN	2	25247981	missense	possibly damaging	0.94
IGL02407:Ndor1	APN	2	25249269	missense	probably benign	0.39
IGL02630:Ndor1	APN	2	25255287	missense	probably damaging	1.00
R0139:Ndor1	UTSW	2	25248354	missense	possibly damaging	0.90
R0194:Ndor1	UTSW	2	25248706	splice site	probably null
R0926:Ndor1	UTSW	2	25248348	missense	probably benign	0.08
R1530:Ndor1	UTSW	2	25248909	missense	probably benign	0.02
R1533:Ndor1	UTSW	2	25249267	missense	probably damaging	0.98
R1837:Ndor1	UTSW	2	25248396	missense	probably damaging	1.00
R1981:Ndor1	UTSW	2	25255224	missense	probably damaging	0.97
R2090:Ndor1	UTSW	2	25249218	missense	probably damaging	1.00
R2188:Ndor1	UTSW	2	25251753	splice site	probably null
R3433:Ndor1	UTSW	2	25247811	missense	possibly damaging	0.91
R3620:Ndor1	UTSW	2	25248035	missense	probably damaging	1.00
R4013:Ndor1	UTSW	2	25250150	missense	probably damaging	0.98
R4411:Ndor1	UTSW	2	25248480	missense	probably benign	0.08
R4457:Ndor1	UTSW	2	25248116	splice site	probably null
R4942:Ndor1	UTSW	2	25248121	critical splice donor site	probably null
R5132:Ndor1	UTSW	2	25247769	missense	probably benign	0.28
R6476:Ndor1	UTSW	2	25248142	missense	possibly damaging	0.95
R6702:Ndor1	UTSW	2	25249890	missense	possibly damaging	0.95
R6703:Ndor1	UTSW	2	25249890	missense	possibly damaging	0.95
R8016:Ndor1	UTSW	2	25249317	missense	probably benign	0.00
R8156:Ndor1	UTSW	2	25248734	missense	probably benign	0.10
X0018:Ndor1	UTSW	2	25247844	missense	probably benign	0.03
X0019:Ndor1	UTSW	2	25248181	missense	probably damaging	1.00
Z1177:Ndor1	UTSW	2	25247789	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GCTACCAGGCTTTACTTTCTCAGG -3'
(R):5'- TGGTGTCCAGATGCTATCCC -3'

Sequencing Primer
(F):5'- TCAGGCCTCAACCTAGTGC -3'
(R):5'- AGATGCTATCCCCGCCC -3'

Posted On

2014-08-01