Incidental Mutation 'IGL02828:Fdxacb1'
| ID |
361318 |
| 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 # |
IGL02828
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
50679538-50683981 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 50682864 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 276
(V276I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037082
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034561]
[ENSMUST00000042391]
[ENSMUST00000042468]
[ENSMUST00000159576]
[ENSMUST00000162073]
[ENSMUST00000176335]
[ENSMUST00000176145]
[ENSMUST00000176238]
[ENSMUST00000177546]
[ENSMUST00000177384]
|
| 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: V276I
PolyPhen 2
Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000037082
Gene: ENSMUSG00000037845
AA Change: V276I
| 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: V74I
PolyPhen 2
Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000135658
Gene: ENSMUSG00000037845
AA Change: V74I
| 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: ENSMUST00000177142
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176619
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176160
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177022
|
| 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: 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177384
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
G |
A |
11: 109,871,720 (GRCm39) |
T86I |
probably damaging |
Het |
| Adam28 |
C |
T |
14: 68,884,319 (GRCm39) |
S93N |
possibly damaging |
Het |
| Adamts6 |
T |
C |
13: 104,433,978 (GRCm39) |
Y136H |
probably damaging |
Het |
| Ahdc1 |
A |
T |
4: 132,790,232 (GRCm39) |
K491I |
possibly damaging |
Het |
| Alb |
C |
A |
5: 90,615,247 (GRCm39) |
A253E |
probably benign |
Het |
| Asb18 |
A |
G |
1: 89,923,932 (GRCm39) |
|
probably null |
Het |
| Asxl3 |
T |
A |
18: 22,657,718 (GRCm39) |
N1909K |
possibly damaging |
Het |
| Atosa |
G |
T |
9: 74,913,714 (GRCm39) |
A123S |
probably damaging |
Het |
| Atp12a |
T |
A |
14: 56,613,599 (GRCm39) |
V457D |
possibly damaging |
Het |
| Atxn7 |
G |
T |
14: 14,090,056 (GRCm38) |
G334W |
probably damaging |
Het |
| Catsperb |
T |
A |
12: 101,447,041 (GRCm39) |
I223K |
probably benign |
Het |
| Clec2h |
T |
A |
6: 128,652,885 (GRCm39) |
H217Q |
probably benign |
Het |
| Col6a3 |
T |
C |
1: 90,724,281 (GRCm39) |
E1416G |
probably damaging |
Het |
| Dcaf1 |
T |
A |
9: 106,721,501 (GRCm39) |
|
probably benign |
Het |
| Ddr2 |
C |
T |
1: 169,816,082 (GRCm39) |
A542T |
probably benign |
Het |
| Ebf3 |
T |
C |
7: 136,909,247 (GRCm39) |
N174S |
probably damaging |
Het |
| Ecpas |
A |
G |
4: 58,875,512 (GRCm39) |
S151P |
possibly damaging |
Het |
| Ephb2 |
A |
G |
4: 136,498,461 (GRCm39) |
I206T |
probably benign |
Het |
| Fbxo39 |
T |
A |
11: 72,208,041 (GRCm39) |
I131N |
possibly damaging |
Het |
| Gpr146 |
A |
T |
5: 139,378,576 (GRCm39) |
Y126F |
probably damaging |
Het |
| Hivep3 |
A |
T |
4: 119,954,929 (GRCm39) |
K1082* |
probably null |
Het |
| Ifnar1 |
T |
A |
16: 91,302,304 (GRCm39) |
|
probably null |
Het |
| Kap |
A |
G |
6: 133,829,057 (GRCm39) |
V25A |
probably benign |
Het |
| Klhl2 |
C |
A |
8: 65,232,791 (GRCm39) |
R162L |
probably damaging |
Het |
| Kmt2a |
A |
G |
9: 44,733,244 (GRCm39) |
|
probably benign |
Het |
| Lrp4 |
A |
G |
2: 91,305,639 (GRCm39) |
N303S |
probably benign |
Het |
| Mtpap |
A |
T |
18: 4,386,207 (GRCm39) |
N276Y |
probably damaging |
Het |
| Nlrp5 |
G |
A |
7: 23,120,885 (GRCm39) |
G684S |
possibly damaging |
Het |
| Or10g3b |
T |
C |
14: 52,586,799 (GRCm39) |
R235G |
probably benign |
Het |
| Or14a256 |
A |
T |
7: 86,265,277 (GRCm39) |
V192E |
possibly damaging |
Het |
| Pak2 |
A |
T |
16: 31,840,674 (GRCm39) |
L469H |
probably damaging |
Het |
| Pcdhb15 |
T |
A |
18: 37,606,903 (GRCm39) |
L45Q |
probably damaging |
Het |
| Pi4ka |
A |
T |
16: 17,098,575 (GRCm39) |
|
probably benign |
Het |
| Picalm |
A |
G |
7: 89,826,709 (GRCm39) |
T386A |
probably benign |
Het |
| Pkd1l2 |
T |
C |
8: 117,756,298 (GRCm39) |
T1645A |
probably benign |
Het |
| Plekhm2 |
A |
T |
4: 141,356,941 (GRCm39) |
V754E |
probably damaging |
Het |
| Pramel25 |
A |
T |
4: 143,521,695 (GRCm39) |
D437V |
possibly damaging |
Het |
| Rbl1 |
T |
A |
2: 157,041,384 (GRCm39) |
E81V |
probably damaging |
Het |
| Rbp4 |
C |
A |
19: 38,106,717 (GRCm39) |
|
probably null |
Het |
| Rdh12 |
T |
C |
12: 79,265,459 (GRCm39) |
V211A |
probably damaging |
Het |
| Ret |
G |
A |
6: 118,153,168 (GRCm39) |
A500V |
probably benign |
Het |
| Rin1 |
T |
C |
19: 5,103,118 (GRCm39) |
F469S |
possibly damaging |
Het |
| Rmc1 |
C |
A |
18: 12,322,278 (GRCm39) |
A577D |
possibly damaging |
Het |
| Rsc1a1 |
G |
T |
4: 141,411,479 (GRCm39) |
P478T |
probably damaging |
Het |
| Setd2 |
A |
T |
9: 110,390,282 (GRCm39) |
Y1579F |
probably benign |
Het |
| Sh3bp5 |
A |
T |
14: 31,156,106 (GRCm39) |
|
probably benign |
Het |
| Slc22a13 |
G |
T |
9: 119,024,773 (GRCm39) |
L235I |
probably benign |
Het |
| Slc6a11 |
A |
T |
6: 114,111,948 (GRCm39) |
T172S |
possibly damaging |
Het |
| Slitrk1 |
G |
T |
14: 109,149,048 (GRCm39) |
S554R |
possibly damaging |
Het |
| Tg |
G |
A |
15: 66,554,243 (GRCm39) |
G553S |
probably damaging |
Het |
| Tmem26 |
G |
A |
10: 68,611,215 (GRCm39) |
|
probably null |
Het |
| Trpm2 |
A |
T |
10: 77,754,820 (GRCm39) |
L1222Q |
probably benign |
Het |
| Vdac2 |
T |
C |
14: 21,893,957 (GRCm39) |
V249A |
probably benign |
Het |
| Vmn1r170 |
T |
C |
7: 23,305,943 (GRCm39) |
V115A |
probably damaging |
Het |
| Vmn2r105 |
A |
G |
17: 20,429,345 (GRCm39) |
V577A |
possibly damaging |
Het |
| Xpo1 |
A |
G |
11: 23,232,593 (GRCm39) |
E371G |
probably damaging |
Het |
| Zfp106 |
A |
C |
2: 120,362,178 (GRCm39) |
H980Q |
possibly 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 |
|
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 |
2015-12-18 |
Incidental Mutation