Incidental Mutation 'R5190:Fdxacb1'
ID |
398055 |
Institutional Source |
Beutler Lab
|
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 # |
R5190 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
50679538-50683981 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 50683387 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Proline
at position 248
(H248P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135658
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034561]
[ENSMUST00000042391]
[ENSMUST00000042468]
[ENSMUST00000159576]
[ENSMUST00000162073]
[ENSMUST00000176335]
[ENSMUST00000176238]
[ENSMUST00000177384]
[ENSMUST00000177546]
[ENSMUST00000176145]
|
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 |
probably benign
Transcript: ENSMUST00000042391
AA Change: H450P
PolyPhen 2
Score 0.243 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000037082 Gene: ENSMUSG00000037845 AA Change: H450P
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: H248P
PolyPhen 2
Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000135658 Gene: ENSMUSG00000037845 AA Change: H248P
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: ENSMUST00000176160
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177022
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177142
|
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: ENSMUST00000177384
|
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: ENSMUST00000176145
|
SMART Domains |
Protein: ENSMUSP00000135796 Gene: ENSMUSG00000037845
Domain | Start | End | E-Value | Type |
Pfam:DUF2431
|
7 |
115 |
4.2e-33 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.1%
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
Abca7 |
T |
C |
10: 79,835,427 (GRCm39) |
|
probably null |
Het |
Abca8a |
C |
T |
11: 109,980,735 (GRCm39) |
|
probably null |
Het |
Ablim3 |
A |
G |
18: 61,952,982 (GRCm39) |
Y361H |
probably benign |
Het |
Acan |
C |
T |
7: 78,748,289 (GRCm39) |
T1020I |
probably benign |
Het |
Baat |
A |
G |
4: 49,499,652 (GRCm39) |
L218P |
probably damaging |
Het |
Bcl11b |
C |
A |
12: 107,955,975 (GRCm39) |
C58F |
probably damaging |
Het |
Cand2 |
G |
T |
6: 115,766,474 (GRCm39) |
A360S |
probably damaging |
Het |
Cdh2 |
A |
G |
18: 16,783,372 (GRCm39) |
V62A |
possibly damaging |
Het |
Cep44 |
C |
T |
8: 56,985,831 (GRCm39) |
V354I |
probably benign |
Het |
Col3a1 |
G |
A |
1: 45,368,244 (GRCm39) |
R309Q |
unknown |
Het |
Col3a1 |
G |
A |
1: 45,383,967 (GRCm39) |
|
probably benign |
Het |
Coq5 |
A |
G |
5: 115,433,839 (GRCm39) |
|
probably null |
Het |
Crtac1 |
A |
G |
19: 42,322,347 (GRCm39) |
I131T |
possibly damaging |
Het |
Decr1 |
C |
T |
4: 15,924,270 (GRCm39) |
V217M |
probably damaging |
Het |
Dnajc13 |
A |
G |
9: 104,051,724 (GRCm39) |
V1706A |
probably benign |
Het |
Dop1a |
A |
G |
9: 86,369,357 (GRCm39) |
I63M |
probably damaging |
Het |
F830045P16Rik |
T |
C |
2: 129,314,635 (GRCm39) |
D214G |
probably benign |
Het |
Fam216a |
T |
A |
5: 122,505,584 (GRCm39) |
|
probably null |
Het |
Gnai1 |
A |
T |
5: 18,496,596 (GRCm39) |
V109E |
probably benign |
Het |
Helz2 |
A |
T |
2: 180,872,550 (GRCm39) |
|
probably null |
Het |
Itgam |
T |
C |
7: 127,715,489 (GRCm39) |
|
probably null |
Het |
Kcnh1 |
A |
G |
1: 192,187,836 (GRCm39) |
S766G |
probably benign |
Het |
Klra1 |
C |
A |
6: 130,352,241 (GRCm39) |
C167F |
probably damaging |
Het |
Krtap9-3 |
T |
A |
11: 99,488,808 (GRCm39) |
T25S |
probably benign |
Het |
Mapk6 |
T |
C |
9: 75,295,626 (GRCm39) |
Y624C |
probably damaging |
Het |
Or10ag2 |
A |
G |
2: 87,249,187 (GRCm39) |
Y263C |
probably damaging |
Het |
Or1ad8 |
T |
G |
11: 50,898,381 (GRCm39) |
I194S |
probably damaging |
Het |
Or2y1g |
T |
C |
11: 49,171,209 (GRCm39) |
V78A |
probably damaging |
Het |
Or52e4 |
C |
T |
7: 104,705,660 (GRCm39) |
S69L |
probably damaging |
Het |
Or9m2 |
T |
A |
2: 87,821,107 (GRCm39) |
Y217* |
probably null |
Het |
P3h2 |
A |
G |
16: 25,803,699 (GRCm39) |
S356P |
possibly damaging |
Het |
Pde12 |
C |
T |
14: 26,387,532 (GRCm39) |
|
probably null |
Het |
Rln3 |
T |
G |
8: 84,769,866 (GRCm39) |
K94N |
probably damaging |
Het |
Skint5 |
T |
C |
4: 113,620,711 (GRCm39) |
I668V |
unknown |
Het |
Slitrk5 |
C |
A |
14: 111,916,852 (GRCm39) |
Q159K |
probably damaging |
Het |
Trim3 |
G |
T |
7: 105,268,716 (GRCm39) |
N79K |
probably damaging |
Het |
Tyw1 |
T |
A |
5: 130,296,756 (GRCm39) |
C101* |
probably null |
Het |
Ulk2 |
T |
C |
11: 61,672,537 (GRCm39) |
T934A |
probably benign |
Het |
Unc5b |
T |
C |
10: 60,608,072 (GRCm39) |
Y687C |
probably benign |
Het |
Vmn1r195 |
C |
T |
13: 22,462,556 (GRCm39) |
R9* |
probably null |
Het |
Zfc3h1 |
T |
G |
10: 115,254,597 (GRCm39) |
L1397R |
probably damaging |
Het |
Zfp296 |
T |
C |
7: 19,311,332 (GRCm39) |
V9A |
probably benign |
Het |
Zfp423 |
T |
A |
8: 88,509,091 (GRCm39) |
S397C |
probably damaging |
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 |
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 |
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'- CATGATGCCAGCATTTCACGAG -3'
(R):5'- GGCAAATCTCTTCAGGAAACG -3'
Sequencing Primer
(F):5'- GCCAGCATTTCACGAGACTTTATTC -3'
(R):5'- CTTCAGGAAACGGTTATCAAAAGTCC -3'
|
Posted On |
2016-07-06 |