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)
|
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
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 |
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
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 |
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
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 |
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
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: E22G
PolyPhen 2
Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000125259 Gene: ENSMUSG00000006471 AA Change: E22G
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: E20G
|
SMART Domains |
Protein: ENSMUSP00000123247 Gene: ENSMUSG00000006471 AA Change: E20G
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 |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
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 |
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 |