Mutagenetix > Incidental Mutation

Incidental Mutation 'R1954:Ndor1'

217534

Institutional Source

Beutler Lab

Gene Symbol

Ndor1

Ensembl Gene

ENSMUSG00000006471

Gene Name

NADPH dependent diflavin oxidoreductase 1

Synonyms

4930447P04Rik, NR1

MMRRC Submission

039968-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.944) question?

Stock #

R1954 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25134825-25145458 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25145305 bp (GRCm39)

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] [ENSMUST00000148589] [ENSMUST00000147866] [ENSMUST00000228052]

AlphaFold

A2AI05

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

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: 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

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: 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
Adamts15	T	A	9: 30,822,004 (GRCm39)	M478L	probably benign	Het
Akap8l	T	A	17: 32,555,710 (GRCm39)	Y123F	possibly damaging	Het
Anapc4	T	G	5: 53,003,967 (GRCm39)		probably benign	Het
Arap3	A	G	18: 38,115,055 (GRCm39)	V987A	probably damaging	Het
Atp2b4	T	A	1: 133,667,730 (GRCm39)	T105S	probably damaging	Het
Atp6v0d1	A	G	8: 106,292,525 (GRCm39)	L7P	probably damaging	Het
Atp6v1b2	T	C	8: 69,558,555 (GRCm39)	V341A	possibly damaging	Het
Baz2b	C	A	2: 59,799,087 (GRCm39)	A346S	probably benign	Het
Brpf3	G	A	17: 29,025,533 (GRCm39)	S202N	probably benign	Het
Btnl4	T	C	17: 34,691,904 (GRCm39)	K233E	possibly damaging	Het
Capn7	A	G	14: 31,082,107 (GRCm39)	T438A	probably damaging	Het
Cars2	A	T	8: 11,600,286 (GRCm39)	Y68N	probably damaging	Het
Cbx2	G	T	11: 118,919,166 (GRCm39)	G244W	probably damaging	Het
Ccr4	A	T	9: 114,321,753 (GRCm39)	V104D	probably damaging	Het
Cdc5l	T	C	17: 45,737,442 (GRCm39)		probably null	Het
Cep170	A	T	1: 176,583,950 (GRCm39)	C810S	probably benign	Het
Cfap299	A	T	5: 98,714,612 (GRCm39)		probably benign	Het
Clp1	T	C	2: 84,554,395 (GRCm39)	D258G	probably damaging	Het
Clstn3	T	C	6: 124,436,257 (GRCm39)	E164G	possibly damaging	Het
Col28a1	T	C	6: 7,998,516 (GRCm39)	E1131G	probably damaging	Het
Cps1	A	G	1: 67,234,355 (GRCm39)	D914G	possibly damaging	Het
Ctnnal1	C	T	4: 56,817,242 (GRCm39)		probably benign	Het
Cyp2c38	A	G	19: 39,393,131 (GRCm39)	L312P	probably damaging	Het
Cytip	T	C	2: 58,038,265 (GRCm39)	N99D	possibly damaging	Het
Dennd4a	A	T	9: 64,759,749 (GRCm39)	T285S	probably benign	Het
Dhx8	A	G	11: 101,644,105 (GRCm39)	S842G	probably damaging	Het
Disp1	A	T	1: 182,870,107 (GRCm39)	M771K	probably damaging	Het
Dnah17	A	G	11: 117,915,557 (GRCm39)	I4326T	probably damaging	Het
Efcab7	T	C	4: 99,757,887 (GRCm39)	F345L	probably damaging	Het
Erc1	G	T	6: 119,774,266 (GRCm39)	Q230K	probably damaging	Het
Ern1	A	T	11: 106,312,800 (GRCm39)		probably benign	Het
Espl1	T	C	15: 102,206,823 (GRCm39)	Y96H	probably damaging	Het
Fam135a	A	T	1: 24,068,683 (GRCm39)	L533I	probably damaging	Het
Fat2	G	A	11: 55,201,910 (GRCm39)	T388I	probably benign	Het
Galnt1	T	G	18: 24,404,831 (GRCm39)		probably benign	Het
Glmn	A	G	5: 107,720,243 (GRCm39)	F212S	probably damaging	Het
Gm3604	A	T	13: 62,517,025 (GRCm39)	N444K	probably damaging	Het
Gvin-ps5	A	C	7: 105,928,888 (GRCm39)	D336E	probably damaging	Het
H1f2	T	C	13: 23,923,385 (GRCm39)	V185A	unknown	Het
H1f3	A	G	13: 23,739,690 (GRCm39)		probably benign	Het
H2-M10.3	T	C	17: 36,678,390 (GRCm39)	D145G	probably damaging	Het
Hic2	T	A	16: 17,076,857 (GRCm39)	L562Q	probably damaging	Het
Hip1r	G	T	5: 124,139,907 (GRCm39)	E1003D	probably damaging	Het
Hsfy2	C	T	1: 56,676,342 (GRCm39)	C65Y	probably benign	Het
Inpp1	T	C	1: 52,833,788 (GRCm39)	T103A	probably damaging	Het
Ints5	T	C	19: 8,872,260 (GRCm39)	V73A	probably damaging	Het
Iqch	A	T	9: 63,455,298 (GRCm39)	D166E	probably benign	Het
Klhdc3	A	T	17: 46,988,901 (GRCm39)	N96K	probably damaging	Het
Klk1b8	C	T	7: 43,603,272 (GRCm39)		probably benign	Het
Klrb1	T	C	6: 128,700,036 (GRCm39)		probably null	Het
Krt71	C	A	15: 101,643,901 (GRCm39)	G446*	probably null	Het
Lars1	G	A	18: 42,343,115 (GRCm39)	R1101C	probably damaging	Het
Lemd3	G	T	10: 120,814,845 (GRCm39)	S129R	probably damaging	Het
Lrp1b	A	G	2: 40,748,453 (GRCm39)	L3015P	probably damaging	Het
Mdga2	T	C	12: 66,533,482 (GRCm39)		probably benign	Het
Mlst8	A	T	17: 24,696,195 (GRCm39)	I178N	probably damaging	Het
Mon2	A	T	10: 122,874,388 (GRCm39)	I320N	probably damaging	Het
Morc2b	T	C	17: 33,356,464 (GRCm39)	Y436C	probably damaging	Het
Moxd1	T	A	10: 24,155,781 (GRCm39)	M295K	probably benign	Het
Mrps5	T	A	2: 127,438,817 (GRCm39)		probably null	Het
Mtor	C	A	4: 148,552,730 (GRCm39)	S744R	probably damaging	Het
Myo3a	T	A	2: 22,246,037 (GRCm39)	D61E	probably damaging	Het
Nars1	C	T	18: 64,633,635 (GRCm39)	R545Q	probably damaging	Het
Ncoa6	A	G	2: 155,248,741 (GRCm39)	V1521A	possibly damaging	Het
Nipsnap3b	T	C	4: 53,017,213 (GRCm39)		probably benign	Het
Notch3	G	T	17: 32,385,652 (GRCm39)	A39E	probably benign	Het
Or1j16	A	G	2: 36,530,227 (GRCm39)	M59V	possibly damaging	Het
Or2a14	T	C	6: 43,130,911 (GRCm39)	I224T	possibly damaging	Het
Or6z3	G	T	7: 6,464,144 (GRCm39)	W212L	probably benign	Het
Otud3	T	C	4: 138,625,343 (GRCm39)	K237R	possibly damaging	Het
Papola	T	A	12: 105,794,532 (GRCm39)		probably null	Het
Parl	T	A	16: 20,121,077 (GRCm39)	M1L	possibly damaging	Het
Parp14	G	T	16: 35,678,671 (GRCm39)	N432K	probably benign	Het
Patz1	T	G	11: 3,241,088 (GRCm39)	S159A	probably damaging	Het
Prpf6	T	G	2: 181,273,870 (GRCm39)	M338R	probably benign	Het
Psd3	A	G	8: 68,149,727 (GRCm39)	L343P	probably damaging	Het
Ptpn23	A	T	9: 110,215,393 (GRCm39)	N1422K	probably damaging	Het
Rab19	A	T	6: 39,361,016 (GRCm39)	T55S	probably benign	Het
Sh3yl1	A	G	12: 30,972,332 (GRCm39)	K34E	possibly damaging	Het
Skint8	T	A	4: 111,807,278 (GRCm39)	F321L	possibly damaging	Het
Slc25a46	A	T	18: 31,733,294 (GRCm39)		probably null	Het
Slc26a3	T	C	12: 31,500,815 (GRCm39)	L184S	probably damaging	Het
Slc39a10	A	T	1: 46,874,334 (GRCm39)	S323T	possibly damaging	Het
Sorbs2	G	T	8: 46,198,775 (GRCm39)	R20L	probably benign	Het
Stk32a	A	T	18: 43,345,090 (GRCm39)	D13V	probably benign	Het
Tab2	T	C	10: 7,795,094 (GRCm39)	T463A	probably damaging	Het
Tenm2	T	A	11: 35,938,374 (GRCm39)	N1433I	possibly damaging	Het
Tmem200c	A	T	17: 69,147,956 (GRCm39)	I180F	probably damaging	Het
Tmem232	G	T	17: 65,791,482 (GRCm39)	H129N	probably benign	Het
Tmem242	T	C	17: 5,489,854 (GRCm39)	T47A	possibly damaging	Het
Ube2d1	A	T	10: 71,120,953 (GRCm39)	M1K	probably null	Het
Ube2frt	A	G	12: 36,140,595 (GRCm39)		probably benign	Het
Uckl1	T	C	2: 181,212,320 (GRCm39)	Q332R	probably benign	Het
Unc5b	T	C	10: 60,605,044 (GRCm39)		probably benign	Het
Vmn2r114	T	C	17: 23,530,086 (GRCm39)	Y107C	probably benign	Het
Vmn2r82	A	T	10: 79,231,890 (GRCm39)	S630C	probably damaging	Het
Wdr25	T	A	12: 108,864,467 (GRCm39)	V204E	probably damaging	Het
Xab2	T	A	8: 3,666,094 (GRCm39)	D227V	probably damaging	Het
Zfp286	A	G	11: 62,674,534 (GRCm39)	S104P	possibly damaging	Het
Zfp345	T	C	2: 150,316,741 (GRCm39)	D22G	probably damaging	Het

Other mutations in Ndor1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01308:Ndor1	APN	2	25,140,151 (GRCm39)	missense	probably benign	0.05
IGL02174:Ndor1	APN	2	25,139,206 (GRCm39)	missense	possibly damaging	0.49
IGL02366:Ndor1	APN	2	25,137,993 (GRCm39)	missense	possibly damaging	0.94
IGL02407:Ndor1	APN	2	25,139,281 (GRCm39)	missense	probably benign	0.39
IGL02630:Ndor1	APN	2	25,145,299 (GRCm39)	missense	probably damaging	1.00
R0139:Ndor1	UTSW	2	25,138,366 (GRCm39)	missense	possibly damaging	0.90
R0194:Ndor1	UTSW	2	25,138,718 (GRCm39)	splice site	probably null
R0926:Ndor1	UTSW	2	25,138,360 (GRCm39)	missense	probably benign	0.08
R1530:Ndor1	UTSW	2	25,138,921 (GRCm39)	missense	probably benign	0.02
R1533:Ndor1	UTSW	2	25,139,279 (GRCm39)	missense	probably damaging	0.98
R1837:Ndor1	UTSW	2	25,138,408 (GRCm39)	missense	probably damaging	1.00
R1981:Ndor1	UTSW	2	25,145,236 (GRCm39)	missense	probably damaging	0.97
R2090:Ndor1	UTSW	2	25,139,230 (GRCm39)	missense	probably damaging	1.00
R2188:Ndor1	UTSW	2	25,141,765 (GRCm39)	splice site	probably null
R3433:Ndor1	UTSW	2	25,137,823 (GRCm39)	missense	possibly damaging	0.91
R3620:Ndor1	UTSW	2	25,138,047 (GRCm39)	missense	probably damaging	1.00
R4013:Ndor1	UTSW	2	25,140,162 (GRCm39)	missense	probably damaging	0.98
R4411:Ndor1	UTSW	2	25,138,492 (GRCm39)	missense	probably benign	0.08
R4457:Ndor1	UTSW	2	25,138,128 (GRCm39)	splice site	probably null
R4942:Ndor1	UTSW	2	25,138,133 (GRCm39)	critical splice donor site	probably null
R5132:Ndor1	UTSW	2	25,137,781 (GRCm39)	missense	probably benign	0.28
R6476:Ndor1	UTSW	2	25,138,154 (GRCm39)	missense	possibly damaging	0.95
R6702:Ndor1	UTSW	2	25,139,902 (GRCm39)	missense	possibly damaging	0.95
R6703:Ndor1	UTSW	2	25,139,902 (GRCm39)	missense	possibly damaging	0.95
R8016:Ndor1	UTSW	2	25,139,329 (GRCm39)	missense	probably benign	0.00
R8156:Ndor1	UTSW	2	25,138,746 (GRCm39)	missense	probably benign	0.10
R9176:Ndor1	UTSW	2	25,138,241 (GRCm39)	missense	probably damaging	0.98
R9396:Ndor1	UTSW	2	25,138,921 (GRCm39)	missense	probably benign	0.02
R9462:Ndor1	UTSW	2	25,144,875 (GRCm39)	critical splice donor site	probably null
R9615:Ndor1	UTSW	2	25,138,434 (GRCm39)	missense	probably benign
X0018:Ndor1	UTSW	2	25,137,856 (GRCm39)	missense	probably benign	0.03
X0019:Ndor1	UTSW	2	25,138,193 (GRCm39)	missense	probably damaging	1.00
Z1177:Ndor1	UTSW	2	25,137,801 (GRCm39)	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