Incidental Mutation 'R6702:Ndor1'
| ID |
528789 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ndor1
|
| Ensembl Gene |
ENSMUSG00000006471 |
| Gene Name |
NADPH dependent diflavin oxidoreductase 1 |
| Synonyms |
4930447P04Rik, NR1 |
| MMRRC Submission |
044820-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.952)
|
| Stock # |
R6702 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
25134825-25145458 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 25139902 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 142
(F142S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097903
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100329]
[ENSMUST00000114349]
[ENSMUST00000132128]
[ENSMUST00000148589]
[ENSMUST00000147866]
[ENSMUST00000228052]
[ENSMUST00000228627]
|
| AlphaFold |
A2AI05 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000100329
AA Change: F142S
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000097903
Gene: ENSMUSG00000006471
AA Change: F142S
| 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: F209S
PolyPhen 2
Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000109989
Gene: ENSMUSG00000006471
AA Change: F209S
| 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 |
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: ENSMUST00000132591
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137355
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000141808
AA Change: F174S
|
| SMART Domains |
Protein: ENSMUSP00000123247
Gene: ENSMUSG00000006471
AA Change: F174S
| 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: 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: 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 |
possibly damaging
Transcript: ENSMUST00000228052
AA Change: F140S
PolyPhen 2
Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228627
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.5%
|
| Validation Efficiency |
97% (59/61) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700020N01Rik |
T |
A |
10: 21,497,558 (GRCm39) |
Y66* |
probably null |
Het |
| Ak3 |
A |
G |
19: 29,003,627 (GRCm39) |
V183A |
probably damaging |
Het |
| Ano10 |
G |
T |
9: 122,088,630 (GRCm39) |
Q397K |
possibly damaging |
Het |
| Atg7 |
C |
A |
6: 114,648,058 (GRCm39) |
|
probably null |
Het |
| Brpf3 |
A |
C |
17: 29,029,633 (GRCm39) |
N531T |
probably benign |
Het |
| Casp2 |
T |
C |
6: 42,244,985 (GRCm39) |
V128A |
probably benign |
Het |
| Cdcp2 |
T |
C |
4: 106,964,283 (GRCm39) |
C378R |
probably benign |
Het |
| Cfap54 |
T |
A |
10: 92,704,596 (GRCm39) |
D2828V |
unknown |
Het |
| Col6a3 |
T |
C |
1: 90,707,161 (GRCm39) |
D1984G |
unknown |
Het |
| Csnk2a1 |
A |
G |
2: 152,100,608 (GRCm39) |
T93A |
probably benign |
Het |
| Ddx54 |
T |
A |
5: 120,764,568 (GRCm39) |
D758E |
possibly damaging |
Het |
| Dlx2 |
A |
G |
2: 71,376,571 (GRCm39) |
S56P |
probably damaging |
Het |
| Dna2 |
T |
A |
10: 62,809,073 (GRCm39) |
I1055N |
possibly damaging |
Het |
| Dnah10 |
A |
G |
5: 124,882,869 (GRCm39) |
Y2909C |
probably damaging |
Het |
| Dnm3 |
A |
G |
1: 162,146,256 (GRCm39) |
F296L |
probably benign |
Het |
| Fat1 |
A |
G |
8: 45,406,083 (GRCm39) |
T945A |
probably benign |
Het |
| Herpud1 |
T |
C |
8: 95,119,154 (GRCm39) |
|
probably null |
Het |
| Iqub |
T |
A |
6: 24,449,744 (GRCm39) |
N707I |
probably damaging |
Het |
| Kif26b |
C |
G |
1: 178,744,852 (GRCm39) |
S1649R |
possibly damaging |
Het |
| Lamp5 |
C |
G |
2: 135,901,483 (GRCm39) |
N102K |
possibly damaging |
Het |
| Ltbr |
A |
G |
6: 125,285,031 (GRCm39) |
S290P |
probably benign |
Het |
| Map4k1 |
T |
G |
7: 28,701,821 (GRCm39) |
S803A |
possibly damaging |
Het |
| Mef2c |
T |
A |
13: 83,773,525 (GRCm39) |
C134S |
possibly damaging |
Het |
| Myo15a |
A |
G |
11: 60,383,818 (GRCm39) |
I1622V |
probably benign |
Het |
| Nbea |
A |
G |
3: 55,912,923 (GRCm39) |
Y955H |
probably benign |
Het |
| Nynrin |
A |
G |
14: 56,101,935 (GRCm39) |
T535A |
possibly damaging |
Het |
| Or4k15 |
A |
G |
14: 50,364,688 (GRCm39) |
Y218C |
probably damaging |
Het |
| Or4k42 |
T |
A |
2: 111,320,454 (GRCm39) |
|
probably null |
Het |
| Or5ac23 |
C |
T |
16: 59,148,961 (GRCm39) |
V304I |
probably benign |
Het |
| Or5d46 |
G |
A |
2: 88,170,586 (GRCm39) |
V226I |
probably benign |
Het |
| Or8b51 |
A |
T |
9: 38,569,073 (GRCm39) |
I205N |
possibly damaging |
Het |
| Pcdhb13 |
T |
G |
18: 37,577,828 (GRCm39) |
H735Q |
probably benign |
Het |
| Pcdhb7 |
A |
T |
18: 37,474,959 (GRCm39) |
M32L |
probably benign |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Per2 |
C |
T |
1: 91,355,671 (GRCm39) |
E696K |
probably damaging |
Het |
| Pld4 |
T |
C |
12: 112,731,485 (GRCm39) |
S213P |
probably damaging |
Het |
| Prkg1 |
T |
A |
19: 30,970,484 (GRCm39) |
H209L |
probably benign |
Het |
| Psg16 |
T |
C |
7: 16,824,321 (GRCm39) |
L35P |
probably damaging |
Het |
| Pxn |
C |
T |
5: 115,689,955 (GRCm39) |
L160F |
probably benign |
Het |
| Rab3a |
A |
G |
8: 71,209,095 (GRCm39) |
D77G |
probably damaging |
Het |
| Resf1 |
T |
A |
6: 149,229,376 (GRCm39) |
N807K |
probably damaging |
Het |
| Rgma |
A |
T |
7: 73,067,068 (GRCm39) |
T108S |
probably damaging |
Het |
| Rxrg |
A |
G |
1: 167,441,374 (GRCm39) |
S51G |
probably benign |
Het |
| S1pr3 |
A |
T |
13: 51,573,475 (GRCm39) |
I219F |
probably damaging |
Het |
| Sec23b |
A |
T |
2: 144,401,109 (GRCm39) |
|
probably null |
Het |
| Sfrp5 |
G |
T |
19: 42,190,266 (GRCm39) |
T62K |
probably benign |
Het |
| Slco1a6 |
T |
A |
6: 142,048,826 (GRCm39) |
Y318F |
probably damaging |
Het |
| Slit1 |
A |
C |
19: 41,603,309 (GRCm39) |
S931A |
possibly damaging |
Het |
| Sorl1 |
A |
T |
9: 41,982,497 (GRCm39) |
V361E |
probably damaging |
Het |
| St6galnac2 |
A |
G |
11: 116,575,213 (GRCm39) |
S209P |
probably benign |
Het |
| Supt6 |
C |
A |
11: 78,122,626 (GRCm39) |
R199L |
possibly damaging |
Het |
| Tas2r107 |
A |
C |
6: 131,636,347 (GRCm39) |
M234R |
probably benign |
Het |
| Tmem72 |
C |
G |
6: 116,675,310 (GRCm39) |
V61L |
probably benign |
Het |
| Trpm5 |
C |
A |
7: 142,623,055 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
G |
2: 76,550,456 (GRCm39) |
T23282P |
probably damaging |
Het |
| Ubap2 |
GCCCGCTTGCCCCGCT |
GCCCGCTTGCCCCGCTTGCCCCGCT |
4: 41,227,210 (GRCm39) |
|
probably benign |
Het |
| Ubr3 |
A |
T |
2: 69,786,393 (GRCm39) |
R836W |
probably benign |
Het |
| Umodl1 |
A |
G |
17: 31,205,273 (GRCm39) |
|
probably null |
Het |
| Ythdf1 |
A |
G |
2: 180,560,926 (GRCm39) |
|
probably null |
Het |
| Zfp780b |
T |
C |
7: 27,671,066 (GRCm39) |
T81A |
possibly damaging |
Het |
| Zfp811 |
T |
C |
17: 33,016,816 (GRCm39) |
E407G |
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 |
|
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 |
|
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'- TTGTGAAGCCCTAACTACTGCC -3'
(R):5'- TGAGATTCCTCATGGAGTCCC -3'
Sequencing Primer
(F):5'- AAGCCCTAACTACTGCCTACCTTTTC -3'
(R):5'- CCTTGGGTATATGAATATCAAGGGAC -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation