Mutagenetix > Incidental Mutation

Incidental Mutation 'R1837:Ndor1'

205363

Institutional Source

Beutler Lab

Gene Symbol

Ndor1

Ensembl Gene

ENSMUSG00000006471

Gene Name

NADPH dependent diflavin oxidoreductase 1

Synonyms

4930447P04Rik, NR1

MMRRC Submission

039864-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.952) question?

Stock #

R1837 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25134825-25145458 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 25138408 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 391 (G391R)

Ref Sequence

ENSEMBL: ENSMUSP00000154261 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060818] [ENSMUST00000100329] [ENSMUST00000114349] [ENSMUST00000114355] [ENSMUST00000132128] [ENSMUST00000228052] [ENSMUST00000147866] [ENSMUST00000148589] [ENSMUST00000154498] [ENSMUST00000228627]

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 damaging
Transcript: ENSMUST00000100329
AA Change: G393R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000097903
Gene: ENSMUSG00000006471
AA Change: G393R

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 damaging
Transcript: ENSMUST00000114349
AA Change: G460R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000109989
Gene: ENSMUSG00000006471
AA Change: G460R

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 damaging
Transcript: ENSMUST00000228052
AA Change: G391R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
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

Predicted Effect

probably benign
Transcript: ENSMUST00000154498

Predicted Effect

probably benign
Transcript: ENSMUST00000228627

Predicted Effect

probably benign
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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 94.9%
20x: 91.6%

Validation Efficiency

99% (86/87)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl10	G	T	2: 154,394,962 (GRCm39)	G305W	probably damaging	Het
Actr3b	A	T	5: 26,030,157 (GRCm39)	T74S	probably benign	Het
Add2	A	G	6: 86,095,540 (GRCm39)	E652G	probably damaging	Het
Alg9	T	A	9: 50,717,615 (GRCm39)	V83D	probably damaging	Het
Atp13a2	T	A	4: 140,721,643 (GRCm39)	Y244*	probably null	Het
BB014433	C	G	8: 15,092,629 (GRCm39)	V75L	unknown	Het
Bcr	A	G	10: 75,003,932 (GRCm39)		probably benign	Het
Begain	G	A	12: 109,001,249 (GRCm39)		probably benign	Het
Bzw1	A	G	1: 58,439,277 (GRCm39)	K67E	probably damaging	Het
Ccdc141	T	C	2: 76,842,009 (GRCm39)	E1474G	probably benign	Het
Cdc73	T	A	1: 143,543,395 (GRCm39)	T314S	possibly damaging	Het
Cfap206	T	C	4: 34,728,813 (GRCm39)	T31A	probably damaging	Het
Cfap58	G	A	19: 48,017,578 (GRCm39)	E813K	probably damaging	Het
Clstn2	C	A	9: 97,465,593 (GRCm39)	A133S	probably benign	Het
Col14a1	A	T	15: 55,245,891 (GRCm39)	D465V	unknown	Het
Col2a1	C	T	15: 97,894,522 (GRCm39)		probably benign	Het
Dab2	A	G	15: 6,365,957 (GRCm39)		probably benign	Het
Eme1	T	C	11: 94,536,787 (GRCm39)	D464G	probably benign	Het
Eml6	T	C	11: 29,699,802 (GRCm39)		probably null	Het
Ern1	C	A	11: 106,349,783 (GRCm39)	L44F	probably damaging	Het
Fam111a	T	A	19: 12,564,816 (GRCm39)	S188R	probably benign	Het
Fam151b	A	T	13: 92,610,639 (GRCm39)		probably benign	Het
Fmo6	T	C	1: 162,750,379 (GRCm39)	N226D	probably benign	Het
Ggt1	A	G	10: 75,415,128 (GRCm39)	D214G	probably benign	Het
Gm14226	A	G	2: 154,866,930 (GRCm39)	I296V	probably benign	Het
Gm9915	A	T	1: 42,269,847 (GRCm39)		noncoding transcript	Het
Heatr5b	T	C	17: 79,128,180 (GRCm39)	D485G	possibly damaging	Het
Helz2	A	T	2: 180,871,082 (GRCm39)	I2785N	probably damaging	Het
Htt	C	T	5: 34,976,367 (GRCm39)	T723M	probably benign	Het
Hydin	C	A	8: 111,296,257 (GRCm39)	H3595Q	probably benign	Het
Il6ra	T	C	3: 89,797,579 (GRCm39)	D96G	probably benign	Het
Kif5a	G	A	10: 127,072,684 (GRCm39)	Q702*	probably null	Het
Klhdc7a	G	T	4: 139,694,381 (GRCm39)	P189T	probably benign	Het
Krt7	A	G	15: 101,317,463 (GRCm39)	D252G	probably benign	Het
Lad1	C	A	1: 135,757,444 (GRCm39)	D394E	probably benign	Het
Lhx8	A	T	3: 154,033,692 (GRCm39)	C38S	possibly damaging	Het
Lta4h	C	T	10: 93,305,037 (GRCm39)	T280M	probably damaging	Het
Magi2	A	T	5: 20,670,825 (GRCm39)	T163S	probably damaging	Het
Med1	G	T	11: 98,060,238 (GRCm39)	D230E	probably damaging	Het
Mmp1b	A	T	9: 7,386,409 (GRCm39)	F171I	probably damaging	Het
Mprip	T	C	11: 59,657,571 (GRCm39)	V801A	probably damaging	Het
Mtrf1	A	G	14: 79,639,273 (GRCm39)	E135G	possibly damaging	Het
Muc5ac	T	A	7: 141,360,823 (GRCm39)	M1378K	probably benign	Het
Myo3a	A	T	2: 22,467,604 (GRCm39)	Q286L	possibly damaging	Het
Nefl	C	T	14: 68,324,075 (GRCm39)	R438C	probably damaging	Het
Nlrp3	G	A	11: 59,439,742 (GRCm39)	V440I	probably benign	Het
Notch3	A	T	17: 32,343,296 (GRCm39)	L1959Q	probably damaging	Het
Noto	A	G	6: 85,401,159 (GRCm39)	T63A	probably benign	Het
Oc90	G	A	15: 65,761,529 (GRCm39)	T163M	probably damaging	Het
Or1l4	T	A	2: 37,092,114 (GRCm39)	M287K	probably benign	Het
Or4c114	A	T	2: 88,905,176 (GRCm39)	Y86*	probably null	Het
Or5an10	A	G	19: 12,275,740 (GRCm39)	V252A	probably damaging	Het
Pdpr	C	A	8: 111,861,366 (GRCm39)	P787T	probably damaging	Het
Phlda1	A	G	10: 111,343,092 (GRCm39)	Q276R	probably benign	Het
Ptpn21	T	G	12: 98,699,885 (GRCm39)	K10Q	probably damaging	Het
Ptprb	A	G	10: 116,177,531 (GRCm39)	E1364G	probably benign	Het
Rabep1	T	A	11: 70,795,484 (GRCm39)	W237R	probably damaging	Het
Rai1	A	T	11: 60,080,224 (GRCm39)	K1429N	probably damaging	Het
Rapgef1	A	G	2: 29,627,438 (GRCm39)	I1027M	probably damaging	Het
Rit1	C	G	3: 88,636,477 (GRCm39)	T127S	probably damaging	Het
Rpap1	A	C	2: 119,600,366 (GRCm39)		probably null	Het
Senp7	T	A	16: 55,978,879 (GRCm39)	C471S	probably benign	Het
Slc16a14	A	G	1: 84,890,120 (GRCm39)	V395A	probably benign	Het
Slc45a1	C	T	4: 150,722,916 (GRCm39)	G323S	probably benign	Het
Syne2	A	T	12: 76,014,434 (GRCm39)	E3208D	probably damaging	Het
Tap1	C	T	17: 34,407,083 (GRCm39)	A77V	possibly damaging	Het
Ticam1	T	C	17: 56,577,799 (GRCm39)	E432G	possibly damaging	Het
Tmem192	C	A	8: 65,416,992 (GRCm39)		probably benign	Het
Trub1	T	C	19: 57,441,461 (GRCm39)	V28A	probably benign	Het
Ttc21b	A	T	2: 66,028,106 (GRCm39)	L1121H	probably benign	Het
Ttc38	A	G	15: 85,735,764 (GRCm39)	D290G	probably damaging	Het
Ulk1	C	T	5: 110,937,247 (GRCm39)	G683D	probably damaging	Het
Vmn1r122	A	T	7: 20,867,291 (GRCm39)	F255I	probably benign	Het
Vmn2r68	T	A	7: 84,882,886 (GRCm39)	I289F	probably damaging	Het
Vps39	A	T	2: 120,155,878 (GRCm39)	L514H	probably damaging	Het
Wdr48	T	G	9: 119,734,482 (GRCm39)	S134A	probably damaging	Het
Yap1	A	T	9: 7,962,350 (GRCm39)	Y139N	probably damaging	Het
Ylpm1	T	C	12: 85,076,107 (GRCm39)	V486A	possibly damaging	Het
Zbtb38	T	C	9: 96,569,048 (GRCm39)	T679A	probably benign	Het
Zfp292	A	G	4: 34,810,264 (GRCm39)	S927P	probably damaging	Het
Zfp324	C	T	7: 12,704,156 (GRCm39)	T115I	probably benign	Het
Zfp523	T	A	17: 28,413,967 (GRCm39)	I34N	probably damaging	Het
Zfp945	A	T	17: 23,070,247 (GRCm39)	C551S	probably damaging	Het
Zfp958	A	G	8: 4,678,590 (GRCm39)	H205R	probably damaging	Het
Zfp974	G	A	7: 27,609,781 (GRCm39)	P648L	possibly 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
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'- AACAAGAAGTTTCCTGGGGTAC -3'
(R):5'- ATCCATAGTTCTGGGGCTCG -3'

Sequencing Primer
(F):5'- CAAGAAGTTTCCTGGGGTACATAGG -3'
(R):5'- GAGAGTATAGCCTCAAGTGCCC -3'

Posted On

2014-06-23