Incidental Mutation 'IGL02630:Ndor1'
ID 301268
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ndor1
Ensembl Gene ENSMUSG00000006471
Gene Name NADPH dependent diflavin oxidoreductase 1
Synonyms 4930447P04Rik, NR1
Accession Numbers
Essential gene? Probably essential (E-score: 0.944) question?
Stock # IGL02630
Quality Score
Status
Chromosome 2
Chromosomal Location 25134825-25145458 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 25145299 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 22 (E22G)
Ref Sequence ENSEMBL: ENSMUSP00000125018 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100329] [ENSMUST00000104998] [ENSMUST00000114349] [ENSMUST00000132128] [ENSMUST00000148589] [ENSMUST00000147866] [ENSMUST00000228052]
AlphaFold A2AI05
Predicted Effect possibly damaging
Transcript: ENSMUST00000100329
AA Change: E22G

PolyPhen 2 Score 0.641 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000097903
Gene: ENSMUSG00000006471
AA Change: E22G

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000114349
AA Change: E22G

PolyPhen 2 Score 0.641 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000109989
Gene: ENSMUSG00000006471
AA Change: E22G

DomainStartEndE-ValueType
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 probably damaging
Transcript: ENSMUST00000132128
AA Change: E22G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125018
Gene: ENSMUSG00000006471
AA Change: E22G

DomainStartEndE-ValueType
PDB:4H2D|B 1 48 2e-9 PDB
SCOP:d1f4pa_ 4 57 4e-9 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132591
Predicted Effect possibly damaging
Transcript: ENSMUST00000148589
AA Change: E22G

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000123958
Gene: ENSMUSG00000006471
AA Change: E22G

DomainStartEndE-ValueType
PDB:4H2D|B 1 49 7e-10 PDB
SCOP:d1f4pa_ 4 45 3e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000147866
AA Change: E22G

PolyPhen 2 Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000125259
Gene: ENSMUSG00000006471
AA Change: E22G

DomainStartEndE-ValueType
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: E20G
SMART Domains Protein: ENSMUSP00000123247
Gene: ENSMUSG00000006471
AA Change: E20G

DomainStartEndE-ValueType
Pfam:Flavodoxin_1 7 120 8.1e-25 PFAM
Pfam:FAD_binding_1 167 225 9.7e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137355
Predicted Effect probably benign
Transcript: ENSMUST00000228052
Coding Region Coverage
Validation Efficiency
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak T A 19: 8,989,441 (GRCm39) V3575E probably damaging Het
Arfgef3 G A 10: 18,537,140 (GRCm39) probably benign Het
Arhgap23 A G 11: 97,345,123 (GRCm39) T631A probably benign Het
Chka T A 19: 3,942,112 (GRCm39) H355Q possibly damaging Het
Ctsj C T 13: 61,149,214 (GRCm39) A277T probably damaging Het
Ddx49 T C 8: 70,753,668 (GRCm39) D67G probably damaging Het
Dennd4b T C 3: 90,180,284 (GRCm39) S716P probably benign Het
Enpp5 G T 17: 44,393,766 (GRCm39) D321Y probably damaging Het
Espl1 A G 15: 102,205,253 (GRCm39) E17G probably benign Het
Fam161b G A 12: 84,400,688 (GRCm39) P428L probably benign Het
Fbxw7 T C 3: 84,872,586 (GRCm39) L256S probably damaging Het
Fgfr2 G T 7: 129,830,525 (GRCm39) probably null Het
Foxred2 C T 15: 77,831,362 (GRCm39) V484I probably benign Het
Gm4744 T A 6: 40,927,403 (GRCm39) probably benign Het
H3c1 C T 13: 23,946,231 (GRCm39) V36M probably benign Het
Hipk2 T C 6: 38,795,456 (GRCm39) N271S possibly damaging Het
Ifna1 A G 4: 88,768,496 (GRCm39) D58G possibly damaging Het
Igkv4-80 A T 6: 68,993,680 (GRCm39) Y70* probably null Het
Ivns1abp G A 1: 151,235,386 (GRCm39) R218H probably damaging Het
Kng1 A T 16: 22,898,595 (GRCm39) probably benign Het
Lars1 T C 18: 42,390,234 (GRCm39) D11G probably damaging Het
Lgals12 T C 19: 7,578,607 (GRCm39) probably benign Het
Lpar4 T A X: 105,974,817 (GRCm39) F334I probably benign Het
Muc5b G A 7: 141,416,968 (GRCm39) G3305S probably benign Het
Nalcn T C 14: 123,555,291 (GRCm39) D864G probably benign Het
Nt5c2 T A 19: 46,912,749 (GRCm39) M69L probably benign Het
Or52ab4 A C 7: 102,987,636 (GRCm39) Y125S probably damaging Het
Or8k22 T C 2: 86,163,212 (GRCm39) I163V probably benign Het
Pde12 A T 14: 26,387,552 (GRCm39) H455Q probably damaging Het
Pdia6 A G 12: 17,324,422 (GRCm39) H91R probably benign Het
Pdk4 A T 6: 5,491,671 (GRCm39) I179K possibly damaging Het
Prl2c1 T C 13: 28,041,480 (GRCm39) probably benign Het
Rasgrf2 C T 13: 92,267,900 (GRCm39) E35K probably damaging Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Sash1 T A 10: 8,620,299 (GRCm39) M454L probably benign Het
Secisbp2 C A 13: 51,832,942 (GRCm39) T608K possibly damaging Het
Slco1a7 T C 6: 141,668,836 (GRCm39) Y532C probably damaging Het
Slmap A G 14: 26,143,586 (GRCm39) V750A possibly damaging Het
Spaca6 T A 17: 18,051,351 (GRCm39) L9Q probably damaging Het
Sycp1 T C 3: 102,786,080 (GRCm39) probably benign Het
Sycp2 A T 2: 178,043,712 (GRCm39) D131E probably damaging Het
Tc2n A T 12: 101,659,404 (GRCm39) D176E probably damaging Het
Thoc7 T C 14: 13,953,154 (GRCm38) I83V probably damaging Het
Trank1 T C 9: 111,202,143 (GRCm39) V1590A possibly damaging Het
Tyrp1 T C 4: 80,758,994 (GRCm39) V289A possibly damaging Het
Ube2dnl1 T A X: 113,815,483 (GRCm39) C119* probably null Het
Vmn1r191 T A 13: 22,363,431 (GRCm39) I108F possibly damaging Het
Zfp710 T A 7: 79,731,789 (GRCm39) I322N probably damaging Het
Other mutations in Ndor1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Posted On 2015-04-16