Incidental Mutation 'R2914:Fdxacb1'
| ID |
254809 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fdxacb1
|
| Ensembl Gene |
ENSMUSG00000037845 |
| Gene Name |
ferredoxin-fold anticodon binding domain containing 1 |
| Synonyms |
D630004A14Rik |
| MMRRC Submission |
040501-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2914 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
50679538-50683981 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 50679699 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 39
(A39V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135796
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042391]
[ENSMUST00000042468]
[ENSMUST00000042576]
[ENSMUST00000176145]
[ENSMUST00000176238]
[ENSMUST00000176335]
[ENSMUST00000177384]
[ENSMUST00000177546]
|
| AlphaFold |
Q3UY23 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042391
AA Change: A39V
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000037082
Gene: ENSMUSG00000037845
AA Change: A39V
| 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
AA Change: A39V
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000135796
Gene: ENSMUSG00000037845
AA Change: A39V
| 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: ENSMUST00000176682
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177142
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176894
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176619
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177022
|
| 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 |
|
| Meta Mutation Damage Score |
0.0949 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (41/41) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf3 |
A |
G |
5: 30,401,992 (GRCm39) |
S679P |
probably damaging |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Cryl1 |
T |
C |
14: 57,513,375 (GRCm39) |
E282G |
probably benign |
Het |
| Dbn1 |
A |
G |
13: 55,630,234 (GRCm39) |
F45L |
probably damaging |
Het |
| Dclre1b |
T |
C |
3: 103,715,430 (GRCm39) |
M105V |
probably damaging |
Het |
| Defb12 |
T |
C |
8: 19,164,830 (GRCm39) |
N3D |
probably benign |
Het |
| Eprs1 |
G |
A |
1: 185,111,939 (GRCm39) |
|
probably null |
Het |
| Fa2h |
T |
C |
8: 112,120,281 (GRCm39) |
D35G |
probably damaging |
Het |
| Fras1 |
G |
A |
5: 96,881,774 (GRCm39) |
R2502K |
probably benign |
Het |
| Grm1 |
A |
G |
10: 10,955,601 (GRCm39) |
S228P |
probably benign |
Het |
| Il27ra |
T |
A |
8: 84,758,242 (GRCm39) |
|
probably benign |
Het |
| Lrrtm1 |
A |
T |
6: 77,221,962 (GRCm39) |
Q473L |
probably damaging |
Het |
| Macf1 |
T |
A |
4: 123,369,704 (GRCm39) |
I121F |
probably damaging |
Het |
| Mael |
A |
T |
1: 166,054,179 (GRCm39) |
F188I |
probably damaging |
Het |
| Mapk4 |
C |
T |
18: 74,068,236 (GRCm39) |
A232T |
probably benign |
Het |
| Mrpl9 |
C |
A |
3: 94,351,108 (GRCm39) |
T96K |
probably damaging |
Het |
| Musk |
C |
A |
4: 58,366,938 (GRCm39) |
L511I |
probably damaging |
Het |
| Mutyh |
G |
A |
4: 116,672,826 (GRCm39) |
D60N |
probably damaging |
Het |
| Nckap5 |
A |
T |
1: 125,954,274 (GRCm39) |
|
probably null |
Het |
| Nktr |
T |
C |
9: 121,578,670 (GRCm39) |
|
probably benign |
Het |
| Otud7b |
C |
A |
3: 96,063,272 (GRCm39) |
A837E |
probably benign |
Het |
| Pigb |
A |
T |
9: 72,947,060 (GRCm39) |
|
probably null |
Het |
| Pip4k2b |
G |
T |
11: 97,613,260 (GRCm39) |
N245K |
probably benign |
Het |
| Ptprd |
T |
A |
4: 75,865,338 (GRCm39) |
D1464V |
probably damaging |
Het |
| Rab22a |
A |
G |
2: 173,537,074 (GRCm39) |
N98S |
probably benign |
Het |
| Rictor |
G |
T |
15: 6,799,476 (GRCm39) |
|
probably null |
Het |
| Rims1 |
T |
C |
1: 22,844,711 (GRCm39) |
E32G |
probably damaging |
Het |
| Slx4ip |
A |
G |
2: 136,909,511 (GRCm39) |
|
probably null |
Het |
| Snx19 |
G |
A |
9: 30,344,828 (GRCm39) |
|
probably benign |
Het |
| Snx29 |
C |
T |
16: 11,265,317 (GRCm39) |
R516W |
probably damaging |
Het |
| Tcof1 |
T |
C |
18: 60,949,156 (GRCm39) |
D1253G |
possibly damaging |
Het |
| Tmod1 |
A |
T |
4: 46,092,259 (GRCm39) |
N203I |
probably damaging |
Het |
| Tmprss15 |
T |
C |
16: 78,759,078 (GRCm39) |
N880S |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,599,979 (GRCm39) |
I19065N |
probably damaging |
Het |
| Txk |
T |
C |
5: 72,881,794 (GRCm39) |
N154S |
probably damaging |
Het |
| Utp20 |
A |
G |
10: 88,590,337 (GRCm39) |
|
probably null |
Het |
| Vmn1r65 |
T |
A |
7: 6,012,040 (GRCm39) |
I65F |
possibly damaging |
Het |
| Yes1 |
T |
C |
5: 32,797,926 (GRCm39) |
S82P |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCGTCATCACTTAGTGCC -3'
(R):5'- TTGGGTTGCCAACAATGCAG -3'
Sequencing Primer
(F):5'- CATCACTTAGTGCCGGGTG -3'
(R):5'- TTGCCAACAATGCAGCCCAG -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation