Mutagenetix > Incidental Mutation

Incidental Mutation 'R0194:Ndor1'

23260

Institutional Source

Beutler Lab

Gene Symbol

Ndor1

Ensembl Gene

ENSMUSG00000006471

Gene Name

NADPH dependent diflavin oxidoreductase 1

Synonyms

4930447P04Rik, NR1

MMRRC Submission

038453-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.944) question?

Stock #

R0194 (G1)

Quality Score

174

Status

Validated

Chromosome

Chromosomal Location

25134825-25145458 bp(-) (GRCm39)

Type of Mutation

splice site (1418 bp from exon)

DNA Base Change (assembly)

T to C at 25138718 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000125259 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060818] [ENSMUST00000100329] [ENSMUST00000114349] [ENSMUST00000114355] [ENSMUST00000132128] [ENSMUST00000228052] [ENSMUST00000228627] [ENSMUST00000147866] [ENSMUST00000147866] [ENSMUST00000148589]

AlphaFold

A2AI05

Predicted Effect

probably benign
Transcript: ENSMUST00000060818

SMART Domains

Protein: ENSMUSP00000057742
Gene: ENSMUSG00000044628

Domain	Start	End	E-Value	Type
low complexity region	45	63	N/A	INTRINSIC
low complexity region	126	138	N/A	INTRINSIC
RING	147	193	1.11e-2	SMART
low complexity region	227	238	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000100329
AA Change: K338R

PolyPhen 2 Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000097903
Gene: ENSMUSG00000006471
AA Change: K338R

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: ENSMUST00000114349
AA Change: K405R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000109989
Gene: ENSMUSG00000006471
AA Change: K405R

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

probably benign
Transcript: ENSMUST00000114355

SMART Domains

Protein: ENSMUSP00000109995
Gene: ENSMUSG00000044628

Domain	Start	End	E-Value	Type
low complexity region	45	63	N/A	INTRINSIC
low complexity region	126	138	N/A	INTRINSIC
RING	147	193	1.11e-2	SMART
low complexity region	227	238	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123472

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129705

Predicted Effect

probably benign
Transcript: ENSMUST00000132128

SMART Domains

Protein: ENSMUSP00000125018
Gene: ENSMUSG00000006471

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: ENSMUST00000137355

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132591

Predicted Effect

probably benign
Transcript: ENSMUST00000228052
AA Change: K336R

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably null
Transcript: ENSMUST00000141808

SMART Domains

Protein: ENSMUSP00000123247
Gene: ENSMUSG00000006471

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 null
Transcript: ENSMUST00000141808

SMART Domains

Protein: ENSMUSP00000123247
Gene: ENSMUSG00000006471

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: ENSMUST00000228627

Predicted Effect

probably null
Transcript: ENSMUST00000147866

SMART Domains

Protein: ENSMUSP00000125259
Gene: ENSMUSG00000006471

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 null
Transcript: ENSMUST00000147866

SMART Domains

Protein: ENSMUSP00000125259
Gene: ENSMUSG00000006471

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

SMART Domains

Protein: ENSMUSP00000123958
Gene: ENSMUSG00000006471

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

Meta Mutation Damage Score

0.1258

Coding Region Coverage

1x: 98.6%
3x: 97.3%
10x: 91.4%
20x: 70.1%

Validation Efficiency

91% (439/482)

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	T	A	4: 88,786,480 (GRCm39)	D46V	unknown	Het
Abcb9	A	G	5: 124,215,358 (GRCm39)	V461A	probably damaging	Het
Ackr4	T	A	9: 103,976,679 (GRCm39)	L89F	probably benign	Het
Acsf2	T	C	11: 94,452,196 (GRCm39)	T449A	probably benign	Het
Acsl4	C	G	X: 141,116,714 (GRCm39)	G489R	probably damaging	Het
Actl6a	T	A	3: 32,779,469 (GRCm39)	I399N	probably damaging	Het
Adamts19	G	A	18: 59,144,220 (GRCm39)	C934Y	probably null	Het
Adsl	A	G	15: 80,845,561 (GRCm39)	E40G	possibly damaging	Het
Alppl2	T	G	1: 87,016,465 (GRCm39)	D203A	probably damaging	Het
Asb10	C	A	5: 24,742,930 (GRCm39)	A268S	probably benign	Het
Atp9a	T	C	2: 168,485,805 (GRCm39)	S832G	probably benign	Het
Bckdha	A	T	7: 25,330,875 (GRCm39)	I297N	probably damaging	Het
Blm	G	A	7: 80,114,694 (GRCm39)		probably benign	Het
C9orf72	T	A	4: 35,197,207 (GRCm39)	D122V	probably damaging	Het
Cacna1h	A	G	17: 25,599,898 (GRCm39)		probably benign	Het
Camsap2	G	A	1: 136,220,686 (GRCm39)	Q298*	probably null	Het
Ccdc38	A	T	10: 93,401,774 (GRCm39)	K145*	probably null	Het
Cfap45	C	T	1: 172,368,894 (GRCm39)	T434M	probably benign	Het
Cfap54	A	T	10: 92,870,524 (GRCm39)		probably benign	Het
Clcn6	G	A	4: 148,097,213 (GRCm39)	P618L	probably damaging	Het
Copg1	T	C	6: 87,881,179 (GRCm39)		probably benign	Het
Dctd	T	A	8: 48,565,113 (GRCm39)	N79K	probably benign	Het
Dgkq	A	G	5: 108,802,510 (GRCm39)		probably benign	Het
Dntt	A	T	19: 41,027,409 (GRCm39)	T159S	possibly damaging	Het
Doc2g	G	A	19: 4,053,656 (GRCm39)	R29Q	probably benign	Het
Dsg3	A	G	18: 20,673,199 (GRCm39)	T957A	probably damaging	Het
Eif3c	T	A	7: 126,157,795 (GRCm39)		probably benign	Het
Ephb3	T	A	16: 21,036,859 (GRCm39)	D107E	probably benign	Het
Esrrb	A	T	12: 86,517,255 (GRCm39)	D108V	probably damaging	Het
Exo1	A	G	1: 175,719,596 (GRCm39)	K214E	probably damaging	Het
Fam186a	G	A	15: 99,839,644 (GRCm39)	T2200I	possibly damaging	Het
Fam227a	C	T	15: 79,524,870 (GRCm39)	W194*	probably null	Het
Foxn4	A	G	5: 114,397,809 (GRCm39)		probably null	Het
Gabbr2	T	C	4: 46,787,565 (GRCm39)	K366R	possibly damaging	Het
Garem2	T	A	5: 30,318,928 (GRCm39)	V130E	probably damaging	Het
Grin2b	A	G	6: 135,756,303 (GRCm39)	F474S	probably damaging	Het
H2-M10.6	G	T	17: 37,124,934 (GRCm39)	V284F	probably damaging	Het
Helz2	C	A	2: 180,874,552 (GRCm39)	G1981C	probably damaging	Het
Hivep1	G	T	13: 42,308,911 (GRCm39)	V384F	probably damaging	Het
Hmox1	A	G	8: 75,823,736 (GRCm39)	T135A	probably damaging	Het
Hpse	T	C	5: 100,867,378 (GRCm39)	D28G	probably benign	Het
Itm2b	G	T	14: 73,602,058 (GRCm39)	D213E	probably benign	Het
Jakmip1	T	A	5: 37,291,627 (GRCm39)	M692K	possibly damaging	Het
Kdm3a	T	C	6: 71,601,578 (GRCm39)	Q151R	probably null	Het
Limch1	C	A	5: 67,156,616 (GRCm39)	A517E	probably benign	Het
Lrit1	T	A	14: 36,783,677 (GRCm39)	L335Q	probably damaging	Het
Lrrc37a	A	G	11: 103,390,616 (GRCm39)	V1603A	possibly damaging	Het
Mbtps1	T	A	8: 120,262,108 (GRCm39)	N347I	probably damaging	Het
Mier1	A	T	4: 102,996,716 (GRCm39)		probably null	Het
Mt2	A	T	8: 94,899,476 (GRCm39)	M1L	probably damaging	Het
Mug1	A	T	6: 121,817,066 (GRCm39)	E45V	probably damaging	Het
Mybphl	A	G	3: 108,281,484 (GRCm39)	K67E	probably benign	Het
Myh4	A	G	11: 67,143,162 (GRCm39)	K1030R	probably damaging	Het
Myl3	T	A	9: 110,598,189 (GRCm39)	D176E	probably benign	Het
Ncapg2	A	G	12: 116,384,303 (GRCm39)		probably null	Het
Nedd4	T	G	9: 72,577,335 (GRCm39)	N53K	possibly damaging	Het
Nek11	C	A	9: 105,270,151 (GRCm39)	A24S	probably benign	Het
Nudt19	G	T	7: 35,250,939 (GRCm39)	P267T	probably benign	Het
Olfml2b	T	C	1: 170,508,684 (GRCm39)	M514T	possibly damaging	Het
Or14a258	A	T	7: 86,035,582 (GRCm39)	C95*	probably null	Het
Or2ag17	C	A	7: 106,390,030 (GRCm39)	M59I	probably benign	Het
Or52i2	A	G	7: 102,319,406 (GRCm39)	D93G	probably benign	Het
Or6k4	A	T	1: 173,964,327 (GRCm39)	T6S	probably benign	Het
P3h1	T	A	4: 119,095,149 (GRCm39)	F302Y	probably damaging	Het
Pappa2	T	A	1: 158,592,671 (GRCm39)		probably benign	Het
Pex2	A	C	3: 5,626,424 (GRCm39)	H128Q	probably benign	Het
Phf11d	A	C	14: 59,590,180 (GRCm39)	L214R	probably damaging	Het
Plcg2	G	A	8: 118,300,136 (GRCm39)		probably benign	Het
Ppargc1b	A	C	18: 61,441,016 (GRCm39)	L634R	possibly damaging	Het
Prune1	A	T	3: 95,169,671 (GRCm39)	I177N	probably damaging	Het
Puf60	T	C	15: 75,942,334 (GRCm39)	D496G	probably damaging	Het
Rasl11b	A	G	5: 74,356,824 (GRCm39)		probably null	Het
Sdr42e1	A	T	8: 118,389,848 (GRCm39)	F264L	probably damaging	Het
Sec24b	A	T	3: 129,777,814 (GRCm39)		probably null	Het
Sgta	G	T	10: 80,886,893 (GRCm39)	P79T	probably benign	Het
Shisa9	C	T	16: 11,802,818 (GRCm39)	T125M	probably damaging	Het
Shoc1	T	A	4: 59,066,534 (GRCm39)		probably benign	Het
Slc12a2	A	G	18: 58,063,283 (GRCm39)	D921G	probably damaging	Het
Slc13a5	C	T	11: 72,136,059 (GRCm39)	V494I	probably benign	Het
Slc13a5	T	A	11: 72,152,956 (GRCm39)	I42L	possibly damaging	Het
Spire2	G	A	8: 124,089,750 (GRCm39)		probably benign	Het
Sptbn4	G	A	7: 27,104,336 (GRCm39)	R962C	probably benign	Het
St8sia5	G	A	18: 77,342,420 (GRCm39)	V377I	probably benign	Het
Stag2	T	G	X: 41,295,014 (GRCm39)		probably benign	Het
Syne1	C	A	10: 5,374,311 (GRCm39)	M165I	probably benign	Het
Synm	C	A	7: 67,384,672 (GRCm39)	V997L	probably damaging	Het
Tacc1	A	G	8: 25,672,392 (GRCm39)	S279P	probably benign	Het
Tbc1d10a	T	C	11: 4,162,901 (GRCm39)		probably null	Het
Tbc1d19	A	G	5: 54,017,498 (GRCm39)	T302A	probably damaging	Het
Tecpr1	A	C	5: 144,155,335 (GRCm39)	N74K	probably damaging	Het
Tmem120a	T	C	5: 135,771,252 (GRCm39)	E28G	possibly damaging	Het
Tnfrsf1b	A	T	4: 144,951,382 (GRCm39)	I186N	probably benign	Het
Trim55	A	G	3: 19,716,025 (GRCm39)	D195G	probably benign	Het
Trpm3	G	T	19: 22,692,720 (GRCm39)		probably null	Het
Ttc39a	T	A	4: 109,301,376 (GRCm39)	S571T	probably benign	Het
Vwf	T	G	6: 125,620,260 (GRCm39)	I1646S	probably benign	Het
Wbp2nl	T	C	15: 82,198,483 (GRCm39)	F340S	possibly damaging	Het
Yeats2	T	C	16: 19,971,719 (GRCm39)	M1T	probably null	Het
Zfp236	T	A	18: 82,675,112 (GRCm39)	E460V	probably damaging	Het
Zfp277	G	A	12: 40,428,876 (GRCm39)		probably benign	Het
Zfp975	T	A	7: 42,311,916 (GRCm39)	K232N	probably benign	Het
Zxdc	T	C	6: 90,349,519 (GRCm39)		probably benign	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
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
R1954:Ndor1	UTSW	2	25,145,305 (GRCm39)	missense	possibly damaging	0.86
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'- AGCTCCAGTACTCACCAGTTTGGC -3'
(R):5'- TGCGACTTTCCACATACAGCGG -3'

Sequencing Primer
(F):5'- CCCACCATGATAATGGGTGTG -3'
(R):5'- ATACAGCGGGTGCCATTCC -3'

Posted On

2013-04-16