Incidental Mutation 'R4742:Fdxacb1'
ID |
358139 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fdxacb1
|
Ensembl Gene |
ENSMUSG00000037845 |
Gene Name |
ferredoxin-fold anticodon binding domain containing 1 |
Synonyms |
D630004A14Rik |
MMRRC Submission |
041966-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4742 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
50679538-50683981 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to G
at 50679968 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134870
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042391]
[ENSMUST00000042468]
[ENSMUST00000042576]
[ENSMUST00000176145]
[ENSMUST00000176238]
[ENSMUST00000176335]
[ENSMUST00000177546]
[ENSMUST00000177384]
|
AlphaFold |
Q3UY23 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000042391
|
SMART Domains |
Protein: ENSMUSP00000037082 Gene: ENSMUSG00000037845
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: ENSMUST00000042576
|
SMART Domains |
Protein: ENSMUSP00000046890 Gene: ENSMUSG00000037971
Domain | Start | End | E-Value | Type |
Pfam:DUF1143
|
15 |
164 |
1.8e-94 |
PFAM |
|
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 |
noncoding transcript
Transcript: ENSMUST00000176160
|
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: ENSMUST00000176335
|
SMART Domains |
Protein: ENSMUSP00000135658 Gene: ENSMUSG00000037845
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: ENSMUST00000176619
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176894
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177142
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176682
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177022
|
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177384
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
Validation Efficiency |
94% (51/54) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
8030423J24Rik |
G |
T |
13: 71,031,644 (GRCm39) |
R17L |
unknown |
Het |
Acan |
T |
C |
7: 78,750,517 (GRCm39) |
F1763L |
probably benign |
Het |
Adgrb1 |
T |
A |
15: 74,401,328 (GRCm39) |
L108* |
probably null |
Het |
Anapc2 |
T |
A |
2: 25,163,555 (GRCm39) |
|
probably null |
Het |
Apbb1ip |
A |
G |
2: 22,716,928 (GRCm39) |
K177E |
unknown |
Het |
Azgp1 |
T |
A |
5: 137,987,888 (GRCm39) |
Y223* |
probably null |
Het |
Cfap44 |
T |
G |
16: 44,269,615 (GRCm39) |
|
probably null |
Het |
Chfr |
C |
T |
5: 110,291,464 (GRCm39) |
T94I |
probably benign |
Het |
Chrna10 |
T |
G |
7: 101,762,344 (GRCm39) |
Q282P |
probably damaging |
Het |
Col9a3 |
G |
T |
2: 180,245,180 (GRCm39) |
G130W |
unknown |
Het |
Dcaf1 |
A |
G |
9: 106,735,754 (GRCm39) |
T901A |
probably benign |
Het |
Dock2 |
T |
G |
11: 34,244,170 (GRCm39) |
|
probably null |
Het |
Dysf |
C |
A |
6: 84,074,697 (GRCm39) |
D499E |
probably damaging |
Het |
Fhip1b |
A |
G |
7: 105,033,518 (GRCm39) |
V566A |
probably damaging |
Het |
Il31ra |
G |
T |
13: 112,660,501 (GRCm39) |
S615* |
probably null |
Het |
Itgam |
C |
T |
7: 127,712,245 (GRCm39) |
S827F |
probably damaging |
Het |
Mapkbp1 |
T |
A |
2: 119,847,299 (GRCm39) |
V512E |
probably damaging |
Het |
Myo1c |
C |
T |
11: 75,560,856 (GRCm39) |
R770* |
probably null |
Het |
Nab2 |
T |
C |
10: 127,498,696 (GRCm39) |
T458A |
probably benign |
Het |
Nadsyn1 |
A |
G |
7: 143,352,367 (GRCm39) |
|
probably benign |
Het |
Nek10 |
A |
G |
14: 14,861,624 (GRCm38) |
D560G |
probably null |
Het |
Or2ag13 |
A |
T |
7: 106,472,635 (GRCm39) |
N272K |
probably damaging |
Het |
Or2ak6 |
A |
G |
11: 58,592,685 (GRCm39) |
R53G |
probably benign |
Het |
Or8b46 |
T |
C |
9: 38,450,952 (GRCm39) |
S254P |
probably damaging |
Het |
Pou1f1 |
C |
A |
16: 65,320,367 (GRCm39) |
P19T |
probably benign |
Het |
Prdm9 |
A |
T |
17: 15,773,783 (GRCm39) |
D329E |
probably damaging |
Het |
Prkn |
T |
A |
17: 11,456,591 (GRCm39) |
|
probably null |
Het |
Ptprm |
A |
C |
17: 67,051,746 (GRCm39) |
Y962* |
probably null |
Het |
Rad9a |
G |
A |
19: 4,250,560 (GRCm39) |
R85C |
probably damaging |
Het |
Rhox2c |
A |
C |
X: 36,635,351 (GRCm39) |
Q4H |
probably benign |
Het |
Rlig1 |
T |
C |
10: 100,414,243 (GRCm39) |
I139V |
probably benign |
Het |
Rtkn2 |
A |
G |
10: 67,839,144 (GRCm39) |
T154A |
possibly damaging |
Het |
Slitrk3 |
T |
C |
3: 72,955,898 (GRCm39) |
D958G |
probably benign |
Het |
Spata31d1b |
C |
A |
13: 59,864,426 (GRCm39) |
H525N |
probably damaging |
Het |
Tacc2 |
A |
G |
7: 130,227,697 (GRCm39) |
R1461G |
probably benign |
Het |
Tas2r105 |
G |
A |
6: 131,663,814 (GRCm39) |
H205Y |
probably damaging |
Het |
Tenm4 |
A |
G |
7: 96,446,691 (GRCm39) |
N809D |
probably damaging |
Het |
Thoc2l |
A |
T |
5: 104,666,723 (GRCm39) |
N415I |
probably benign |
Het |
Tns1 |
A |
G |
1: 74,163,449 (GRCm39) |
|
probably null |
Het |
Top1 |
A |
G |
2: 160,545,490 (GRCm39) |
|
probably null |
Het |
Traf3ip2 |
C |
T |
10: 39,515,256 (GRCm39) |
P345S |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
Txndc9 |
T |
C |
1: 38,026,765 (GRCm39) |
D135G |
possibly damaging |
Het |
Usp3 |
A |
G |
9: 66,427,959 (GRCm39) |
Y339H |
probably damaging |
Het |
Vmn1r5 |
A |
T |
6: 56,963,236 (GRCm39) |
K304* |
probably null |
Het |
Vmn2r92 |
A |
G |
17: 18,387,119 (GRCm39) |
T153A |
probably benign |
Het |
Xkr5 |
A |
T |
8: 18,998,746 (GRCm39) |
*55K |
probably null |
Het |
|
Other mutations in Fdxacb1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02403:Fdxacb1
|
APN |
9 |
50,682,863 (GRCm39) |
missense |
possibly damaging |
0.75 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGAGAACCTAAAGCGCCTG -3'
(R):5'- ACTTGGCAAGCAGTTCCCTG -3'
Sequencing Primer
(F):5'- CGAACGAGGTAGCAAGTCCC -3'
(R):5'- GGCAAGCAGTTCCCTGTTCTTAG -3'
|
Posted On |
2015-11-11 |