Incidental Mutation 'R4457:Ndor1'
| ID |
329925 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ndor1
|
| Ensembl Gene |
ENSMUSG00000006471 |
| Gene Name |
NADPH dependent diflavin oxidoreductase 1 |
| Synonyms |
4930447P04Rik, NR1 |
| MMRRC Submission |
041717-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.952)
|
| Stock # |
R4457 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
25134825-25145458 bp(-) (GRCm39) |
| Type of Mutation |
splice site (6 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 25138128 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060818]
[ENSMUST00000100329]
[ENSMUST00000114349]
[ENSMUST00000114355]
[ENSMUST00000132128]
[ENSMUST00000228627]
[ENSMUST00000148589]
[ENSMUST00000147866]
[ENSMUST00000154498]
[ENSMUST00000228052]
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000097903
Gene: ENSMUSG00000006471
| 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
|
| SMART Domains |
Protein: ENSMUSP00000109989
Gene: ENSMUSG00000006471
| 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 |
probably null
Transcript: ENSMUST00000162680
|
| SMART Domains |
Protein: ENSMUSP00000124985
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: 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 |
|
| 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 |
probably benign
Transcript: ENSMUST00000154498
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228052
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
97% (62/64) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110008E08Rik |
A |
G |
16: 90,351,260 (GRCm39) |
|
noncoding transcript |
Het |
| 1700025G04Rik |
T |
C |
1: 151,796,805 (GRCm39) |
R87G |
probably damaging |
Het |
| 9030619P08Rik |
T |
A |
15: 75,303,249 (GRCm39) |
|
noncoding transcript |
Het |
| Akap13 |
A |
G |
7: 75,389,213 (GRCm39) |
D2377G |
probably damaging |
Het |
| Arhgef5 |
T |
C |
6: 43,251,027 (GRCm39) |
S593P |
probably damaging |
Het |
| Atp4a |
G |
A |
7: 30,419,650 (GRCm39) |
R671Q |
probably benign |
Het |
| Cdkn2d |
C |
G |
9: 21,202,185 (GRCm39) |
V21L |
probably benign |
Het |
| Cfap73 |
T |
C |
5: 120,768,215 (GRCm39) |
K181R |
possibly damaging |
Het |
| Chn1 |
A |
G |
2: 73,443,427 (GRCm39) |
I383T |
probably damaging |
Het |
| Cmtr2 |
A |
G |
8: 110,948,884 (GRCm39) |
D398G |
probably benign |
Het |
| Dnah12 |
T |
C |
14: 26,537,464 (GRCm39) |
Y2238H |
probably damaging |
Het |
| Dnah7c |
A |
G |
1: 46,779,781 (GRCm39) |
N3161S |
probably damaging |
Het |
| Dnah8 |
C |
A |
17: 31,032,125 (GRCm39) |
H4148Q |
probably benign |
Het |
| Ehbp1l1 |
T |
C |
19: 5,766,321 (GRCm39) |
S397G |
possibly damaging |
Het |
| Eya4 |
A |
T |
10: 22,992,566 (GRCm39) |
S462R |
probably damaging |
Het |
| Fam227b |
T |
A |
2: 125,988,188 (GRCm39) |
|
probably benign |
Het |
| Frrs1 |
G |
A |
3: 116,690,377 (GRCm39) |
V7I |
probably benign |
Het |
| Fsip2 |
G |
T |
2: 82,821,120 (GRCm39) |
A5618S |
possibly damaging |
Het |
| Gja10 |
A |
T |
4: 32,601,073 (GRCm39) |
M437K |
probably benign |
Het |
| Gm2840 |
T |
G |
5: 96,322,187 (GRCm39) |
|
noncoding transcript |
Het |
| Gm4956 |
A |
G |
1: 21,368,319 (GRCm39) |
|
noncoding transcript |
Het |
| Gria4 |
A |
G |
9: 4,427,074 (GRCm39) |
W789R |
probably damaging |
Het |
| Hoxb5 |
A |
G |
11: 96,194,546 (GRCm39) |
D36G |
probably damaging |
Het |
| Hps5 |
A |
T |
7: 46,433,037 (GRCm39) |
C228S |
probably benign |
Het |
| Hspa4 |
A |
T |
11: 53,171,395 (GRCm39) |
C270S |
probably damaging |
Het |
| Htra4 |
C |
A |
8: 25,528,674 (GRCm39) |
A73S |
possibly damaging |
Het |
| Ikzf2 |
T |
C |
1: 69,723,347 (GRCm39) |
|
probably benign |
Het |
| Ivl |
G |
A |
3: 92,479,673 (GRCm39) |
H131Y |
probably benign |
Het |
| Kat6a |
A |
G |
8: 23,422,129 (GRCm39) |
|
probably null |
Het |
| Lamp3 |
T |
A |
16: 19,492,279 (GRCm39) |
M322L |
probably benign |
Het |
| Letmd1 |
T |
C |
15: 100,373,011 (GRCm39) |
V37A |
possibly damaging |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Myh1 |
G |
A |
11: 67,111,441 (GRCm39) |
G1627R |
probably benign |
Het |
| Myo9b |
A |
G |
8: 71,743,643 (GRCm39) |
I235V |
probably damaging |
Het |
| Ndufa12 |
A |
T |
10: 94,056,680 (GRCm39) |
K136M |
probably damaging |
Het |
| Or2t49 |
A |
G |
11: 58,392,944 (GRCm39) |
L146P |
probably damaging |
Het |
| Or4a78 |
A |
T |
2: 89,497,427 (GRCm39) |
S268T |
probably benign |
Het |
| Or51g2 |
C |
T |
7: 102,622,734 (GRCm39) |
S155N |
probably damaging |
Het |
| Or5d44 |
A |
G |
2: 88,141,173 (GRCm39) |
|
probably benign |
Het |
| Pcdha2 |
A |
G |
18: 37,073,599 (GRCm39) |
D410G |
probably damaging |
Het |
| Pcyox1l |
T |
A |
18: 61,830,939 (GRCm39) |
N311I |
probably benign |
Het |
| Pif1 |
A |
G |
9: 65,495,058 (GRCm39) |
|
probably benign |
Het |
| Pkp1 |
CTCTTCTT |
CTCTT |
1: 135,803,362 (GRCm39) |
|
probably null |
Het |
| Pogz |
G |
A |
3: 94,763,374 (GRCm39) |
V49I |
probably benign |
Het |
| Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
| Rnf4 |
A |
G |
5: 34,508,705 (GRCm39) |
Y189C |
probably benign |
Het |
| Rpl31-ps17 |
C |
T |
12: 54,748,397 (GRCm39) |
|
noncoding transcript |
Het |
| Sgms2 |
A |
C |
3: 131,118,665 (GRCm39) |
Y273D |
probably damaging |
Het |
| Slc25a10 |
G |
A |
11: 120,387,915 (GRCm39) |
V203I |
probably benign |
Het |
| Slc4a2 |
T |
A |
5: 24,639,328 (GRCm39) |
|
probably benign |
Het |
| Tbc1d13 |
A |
G |
2: 30,025,450 (GRCm39) |
|
probably benign |
Het |
| Tdrd7 |
A |
G |
4: 46,007,526 (GRCm39) |
N526S |
probably benign |
Het |
| Tet2 |
C |
T |
3: 133,191,324 (GRCm39) |
D1037N |
possibly damaging |
Het |
| Thrb |
T |
A |
14: 18,011,187 (GRCm38) |
W188R |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,777,257 (GRCm39) |
M1382V |
probably benign |
Het |
| Usp9y |
T |
A |
Y: 1,394,078 (GRCm39) |
I551L |
possibly damaging |
Het |
| Vwde |
T |
C |
6: 13,196,100 (GRCm39) |
I308M |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,409,778 (GRCm39) |
I3488V |
unknown |
Het |
| Zgrf1 |
A |
T |
3: 127,389,578 (GRCm39) |
I375F |
probably damaging |
Het |
| Zic4 |
A |
G |
9: 91,261,315 (GRCm39) |
K183R |
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 |
|
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'- CCCGACATTCCCAAGTTTGC -3'
(R):5'- GTGAGTACTGGAGCTCCAAAGC -3'
Sequencing Primer
(F):5'- CTCACCCTGCTAGGTAGAAGTAG -3'
(R):5'- TCCAAAGCAGTGTGACCTG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation