Incidental Mutation 'IGL02403:Fdxacb1'
ID |
291967 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Fdxacb1
|
Ensembl Gene |
ENSMUSG00000037845 |
Gene Name |
ferredoxin-fold anticodon binding domain containing 1 |
Synonyms |
D630004A14Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02403
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
50679538-50683981 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 50682863 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 275
(S275R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000037082
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034561]
[ENSMUST00000042391]
[ENSMUST00000042468]
[ENSMUST00000159576]
[ENSMUST00000162073]
[ENSMUST00000176335]
[ENSMUST00000176145]
[ENSMUST00000177384]
[ENSMUST00000176238]
[ENSMUST00000177546]
|
AlphaFold |
Q3UY23 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034561
|
SMART Domains |
Protein: ENSMUSP00000034561 Gene: ENSMUSG00000032059
Domain | Start | End | E-Value | Type |
Pfam:Glyco_transf_22
|
60 |
482 |
3.5e-127 |
PFAM |
low complexity region
|
598 |
611 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042391
AA Change: S275R
PolyPhen 2
Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000037082 Gene: ENSMUSG00000037845 AA Change: S275R
Domain | Start | End | E-Value | Type |
Pfam:DUF2431
|
7 |
176 |
1.4e-44 |
PFAM |
low complexity region
|
258 |
269 |
N/A |
INTRINSIC |
SCOP:d1jjca_
|
487 |
516 |
6e-4 |
SMART |
FDX-ACB
|
528 |
622 |
5.88e-17 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000042468
|
SMART Domains |
Protein: ENSMUSP00000041803 Gene: ENSMUSG00000037971
Domain | Start | End | E-Value | Type |
Pfam:DUF1143
|
1 |
149 |
7.7e-107 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159576
|
SMART Domains |
Protein: ENSMUSP00000123711 Gene: ENSMUSG00000032059
Domain | Start | End | E-Value | Type |
Pfam:Glyco_transf_22
|
60 |
228 |
1e-43 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162073
|
SMART Domains |
Protein: ENSMUSP00000125425 Gene: ENSMUSG00000032059
Domain | Start | End | E-Value | Type |
Pfam:Glyco_transf_22
|
60 |
167 |
7.5e-31 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162363
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162442
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000176335
AA Change: S73R
PolyPhen 2
Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000135658 Gene: ENSMUSG00000037845 AA Change: S73R
Domain | Start | End | E-Value | Type |
low complexity region
|
56 |
67 |
N/A |
INTRINSIC |
SCOP:d1jjca_
|
285 |
314 |
3e-4 |
SMART |
FDX-ACB
|
326 |
420 |
5.88e-17 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176894
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176160
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177022
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177142
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176619
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176145
|
SMART Domains |
Protein: ENSMUSP00000135796 Gene: ENSMUSG00000037845
Domain | Start | End | E-Value | Type |
Pfam:DUF2431
|
7 |
115 |
4.2e-33 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177384
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176238
|
SMART Domains |
Protein: ENSMUSP00000135679 Gene: ENSMUSG00000037971
Domain | Start | End | E-Value | Type |
Pfam:DUF1143
|
1 |
70 |
4.2e-47 |
PFAM |
Pfam:DUF1143
|
68 |
126 |
5.3e-38 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177546
|
SMART Domains |
Protein: ENSMUSP00000134870 Gene: ENSMUSG00000037971
Domain | Start | End | E-Value | Type |
Pfam:DUF1143
|
13 |
72 |
3.3e-39 |
PFAM |
|
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 a protein which contains a ferredoxin-fold anticodon-binding domain which is contained in a subset of phenylalanyl tRNA synthetases. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc8 |
A |
G |
7: 45,755,227 (GRCm39) |
|
probably null |
Het |
Alk |
C |
A |
17: 72,208,388 (GRCm39) |
G944V |
probably damaging |
Het |
Alox15 |
T |
C |
11: 70,236,727 (GRCm39) |
D446G |
probably damaging |
Het |
Apof |
A |
G |
10: 128,105,353 (GRCm39) |
|
probably null |
Het |
Arhgap28 |
T |
G |
17: 68,180,154 (GRCm39) |
D81A |
possibly damaging |
Het |
Bltp1 |
T |
C |
3: 37,084,813 (GRCm39) |
S3922P |
probably benign |
Het |
Bms1 |
T |
C |
6: 118,382,185 (GRCm39) |
E451G |
possibly damaging |
Het |
C9orf72 |
A |
G |
4: 35,205,887 (GRCm39) |
|
probably benign |
Het |
Capn13 |
T |
A |
17: 73,658,421 (GRCm39) |
T216S |
possibly damaging |
Het |
Ccdc28a |
A |
T |
10: 18,089,931 (GRCm39) |
|
probably benign |
Het |
Cdip1 |
T |
C |
16: 4,586,676 (GRCm39) |
T150A |
probably damaging |
Het |
Chrnb3 |
T |
A |
8: 27,883,836 (GRCm39) |
L191Q |
probably damaging |
Het |
Chst2 |
G |
A |
9: 95,287,285 (GRCm39) |
Q354* |
probably null |
Het |
Cldn11 |
T |
C |
3: 31,204,345 (GRCm39) |
V16A |
probably benign |
Het |
Cyp4f18 |
A |
G |
8: 72,752,072 (GRCm39) |
M198T |
probably damaging |
Het |
Dhx30 |
A |
G |
9: 109,920,587 (GRCm39) |
L280P |
probably damaging |
Het |
Disc1 |
A |
G |
8: 125,862,258 (GRCm39) |
|
probably benign |
Het |
Dnm1l |
T |
C |
16: 16,154,840 (GRCm39) |
I172V |
possibly damaging |
Het |
Edem2 |
T |
C |
2: 155,550,983 (GRCm39) |
D328G |
possibly damaging |
Het |
Fbxo10 |
G |
A |
4: 45,062,517 (GRCm39) |
T3M |
probably benign |
Het |
Gm7275 |
C |
A |
16: 47,893,991 (GRCm39) |
|
noncoding transcript |
Het |
Helz2 |
A |
T |
2: 180,872,815 (GRCm39) |
I2468N |
probably damaging |
Het |
Ift46 |
C |
A |
9: 44,698,176 (GRCm39) |
P213Q |
probably damaging |
Het |
Ift56 |
A |
G |
6: 38,386,373 (GRCm39) |
M365V |
possibly damaging |
Het |
Irf2 |
G |
T |
8: 47,299,207 (GRCm39) |
V334F |
probably damaging |
Het |
Lrp4 |
T |
A |
2: 91,338,927 (GRCm39) |
V1786E |
probably benign |
Het |
Mfsd5 |
A |
G |
15: 102,188,973 (GRCm39) |
Y115C |
probably benign |
Het |
Muc5ac |
A |
G |
7: 141,357,187 (GRCm39) |
R1154G |
possibly damaging |
Het |
Nek4 |
G |
T |
14: 30,686,008 (GRCm39) |
E314* |
probably null |
Het |
Oas2 |
C |
T |
5: 120,886,815 (GRCm39) |
G117D |
possibly damaging |
Het |
Or8j3b |
A |
T |
2: 86,204,867 (GRCm39) |
D296E |
probably benign |
Het |
Pikfyve |
C |
T |
1: 65,283,663 (GRCm39) |
H767Y |
probably damaging |
Het |
Pkhd1 |
T |
C |
1: 20,632,642 (GRCm39) |
H591R |
probably benign |
Het |
Pygl |
T |
A |
12: 70,241,032 (GRCm39) |
I672F |
probably benign |
Het |
Rft1 |
G |
T |
14: 30,382,278 (GRCm39) |
|
probably benign |
Het |
Ripor3 |
A |
C |
2: 167,831,250 (GRCm39) |
L517R |
probably damaging |
Het |
Serpina3b |
A |
G |
12: 104,096,721 (GRCm39) |
M1V |
probably null |
Het |
Sgce |
C |
T |
6: 4,694,059 (GRCm39) |
R263Q |
probably damaging |
Het |
Stard6 |
A |
T |
18: 70,629,183 (GRCm39) |
|
probably null |
Het |
Them4 |
T |
C |
3: 94,230,978 (GRCm39) |
F117L |
probably damaging |
Het |
Tmem214 |
G |
A |
5: 31,030,090 (GRCm39) |
A296T |
probably benign |
Het |
Vmn2r116 |
G |
T |
17: 23,606,338 (GRCm39) |
D417Y |
probably damaging |
Het |
|
Other mutations in Fdxacb1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02828:Fdxacb1
|
APN |
9 |
50,682,864 (GRCm39) |
missense |
possibly damaging |
0.75 |
IGL02799:Fdxacb1
|
UTSW |
9 |
50,683,896 (GRCm39) |
missense |
probably benign |
0.01 |
R0755:Fdxacb1
|
UTSW |
9 |
50,683,025 (GRCm39) |
missense |
possibly damaging |
0.87 |
R1283:Fdxacb1
|
UTSW |
9 |
50,679,994 (GRCm39) |
missense |
possibly damaging |
0.79 |
R1395:Fdxacb1
|
UTSW |
9 |
50,683,796 (GRCm39) |
frame shift |
probably null |
|
R1991:Fdxacb1
|
UTSW |
9 |
50,682,946 (GRCm39) |
missense |
probably benign |
0.00 |
R2103:Fdxacb1
|
UTSW |
9 |
50,682,946 (GRCm39) |
missense |
probably benign |
0.00 |
R2273:Fdxacb1
|
UTSW |
9 |
50,683,321 (GRCm39) |
missense |
probably benign |
0.01 |
R2913:Fdxacb1
|
UTSW |
9 |
50,679,699 (GRCm39) |
missense |
probably benign |
0.05 |
R2914:Fdxacb1
|
UTSW |
9 |
50,679,699 (GRCm39) |
missense |
probably benign |
0.05 |
R4289:Fdxacb1
|
UTSW |
9 |
50,683,879 (GRCm39) |
missense |
probably damaging |
0.99 |
R4492:Fdxacb1
|
UTSW |
9 |
50,681,547 (GRCm39) |
missense |
probably damaging |
0.99 |
R4668:Fdxacb1
|
UTSW |
9 |
50,681,560 (GRCm39) |
missense |
possibly damaging |
0.74 |
R4742:Fdxacb1
|
UTSW |
9 |
50,679,968 (GRCm39) |
unclassified |
probably benign |
|
R4789:Fdxacb1
|
UTSW |
9 |
50,681,418 (GRCm39) |
missense |
possibly damaging |
0.84 |
R4935:Fdxacb1
|
UTSW |
9 |
50,683,243 (GRCm39) |
missense |
probably benign |
0.00 |
R5190:Fdxacb1
|
UTSW |
9 |
50,683,387 (GRCm39) |
missense |
possibly damaging |
0.78 |
R5652:Fdxacb1
|
UTSW |
9 |
50,679,705 (GRCm39) |
missense |
probably damaging |
1.00 |
R6130:Fdxacb1
|
UTSW |
9 |
50,683,902 (GRCm39) |
nonsense |
probably null |
|
R7483:Fdxacb1
|
UTSW |
9 |
50,681,451 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7487:Fdxacb1
|
UTSW |
9 |
50,681,519 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7571:Fdxacb1
|
UTSW |
9 |
50,683,093 (GRCm39) |
missense |
probably damaging |
0.98 |
R8069:Fdxacb1
|
UTSW |
9 |
50,680,135 (GRCm39) |
missense |
probably damaging |
1.00 |
R8201:Fdxacb1
|
UTSW |
9 |
50,681,455 (GRCm39) |
unclassified |
probably benign |
|
R8907:Fdxacb1
|
UTSW |
9 |
50,681,451 (GRCm39) |
missense |
probably damaging |
0.97 |
R9331:Fdxacb1
|
UTSW |
9 |
50,681,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |