Incidental Mutation 'R4935:Fdxacb1'
| ID |
380309 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fdxacb1
|
| Ensembl Gene |
ENSMUSG00000037845 |
| Gene Name |
ferredoxin-fold anticodon binding domain containing 1 |
| Synonyms |
D630004A14Rik |
| MMRRC Submission |
042535-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4935 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
50679538-50683981 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 50683243 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 402
(M402K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037082
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034561]
[ENSMUST00000042391]
[ENSMUST00000042468]
[ENSMUST00000159576]
[ENSMUST00000162073]
[ENSMUST00000176335]
[ENSMUST00000177384]
[ENSMUST00000176238]
[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: M402K
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000037082
Gene: ENSMUSG00000037845
AA Change: M402K
| 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 |
probably benign
Transcript: ENSMUST00000176335
AA Change: M200K
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000135658
Gene: ENSMUSG00000037845
AA Change: M200K
| 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: ENSMUST00000177142
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176160
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176894
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177022
|
| 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 |
|
| 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: 98.9%
- 3x: 97.9%
- 10x: 94.8%
- 20x: 86.9%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730071L15Rik |
A |
G |
11: 6,150,442 (GRCm39) |
*138W |
probably null |
Het |
| Abcb1a |
T |
A |
5: 8,787,773 (GRCm39) |
|
probably null |
Het |
| Acp6 |
T |
C |
3: 97,079,060 (GRCm39) |
|
probably null |
Het |
| Adcyap1 |
A |
T |
17: 93,511,541 (GRCm39) |
I172L |
probably benign |
Het |
| Adgrf1 |
A |
C |
17: 43,606,130 (GRCm39) |
I85L |
probably benign |
Het |
| Afdn |
A |
T |
17: 14,111,228 (GRCm39) |
T1604S |
probably benign |
Het |
| Angpt2 |
T |
C |
8: 18,742,131 (GRCm39) |
Y475C |
probably damaging |
Het |
| Ank2 |
A |
G |
3: 126,749,713 (GRCm39) |
S439P |
probably damaging |
Het |
| Ank3 |
T |
A |
10: 69,812,033 (GRCm39) |
N366K |
probably damaging |
Het |
| Ankrd11 |
A |
G |
8: 123,626,922 (GRCm39) |
S87P |
probably benign |
Het |
| Ano7 |
T |
A |
1: 93,323,036 (GRCm39) |
S459T |
possibly damaging |
Het |
| Asxl3 |
G |
A |
18: 22,656,369 (GRCm39) |
V1460M |
probably benign |
Het |
| Atg16l1 |
A |
C |
1: 87,694,764 (GRCm39) |
N147T |
possibly damaging |
Het |
| Atp10a |
T |
C |
7: 58,463,512 (GRCm39) |
V1015A |
probably damaging |
Het |
| Atxn7 |
T |
A |
14: 14,100,401 (GRCm38) |
S696T |
probably benign |
Het |
| Babam1 |
C |
T |
8: 71,852,446 (GRCm39) |
T184I |
probably benign |
Het |
| Blk |
A |
G |
14: 63,618,711 (GRCm39) |
S175P |
possibly damaging |
Het |
| Col5a1 |
T |
A |
2: 27,914,754 (GRCm39) |
F123L |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 48,024,480 (GRCm39) |
Y496C |
probably damaging |
Het |
| Dnah3 |
A |
T |
7: 119,615,700 (GRCm39) |
Y1676* |
probably null |
Het |
| Frmd5 |
A |
G |
2: 121,393,405 (GRCm39) |
V141A |
possibly damaging |
Het |
| Gapvd1 |
G |
A |
2: 34,594,504 (GRCm39) |
R685* |
probably null |
Het |
| Grik2 |
A |
G |
10: 49,116,826 (GRCm39) |
L645P |
probably damaging |
Het |
| H2aj |
T |
A |
6: 136,785,681 (GRCm39) |
V115E |
possibly damaging |
Het |
| Hrh3 |
T |
C |
2: 179,743,061 (GRCm39) |
Y189C |
probably damaging |
Het |
| Kcnc2 |
A |
G |
10: 112,108,133 (GRCm39) |
T175A |
probably benign |
Het |
| Kcnv2 |
A |
G |
19: 27,300,332 (GRCm39) |
Y61C |
probably damaging |
Het |
| Kif24 |
T |
C |
4: 41,394,939 (GRCm39) |
R645G |
probably damaging |
Het |
| Knl1 |
A |
G |
2: 118,899,438 (GRCm39) |
I380V |
possibly damaging |
Het |
| Lamb2 |
A |
G |
9: 108,364,700 (GRCm39) |
I1151M |
possibly damaging |
Het |
| Leo1 |
A |
G |
9: 75,353,159 (GRCm39) |
D234G |
probably benign |
Het |
| Lrp1b |
T |
G |
2: 41,388,405 (GRCm39) |
N407H |
probably benign |
Het |
| Matn2 |
T |
C |
15: 34,428,831 (GRCm39) |
S732P |
probably damaging |
Het |
| Mrps30 |
A |
T |
13: 118,523,431 (GRCm39) |
F114I |
possibly damaging |
Het |
| Or1l8 |
T |
C |
2: 36,817,713 (GRCm39) |
N138D |
probably benign |
Het |
| Or4f17-ps1 |
G |
A |
2: 111,357,793 (GRCm39) |
V45I |
probably damaging |
Het |
| Or5b123 |
T |
C |
19: 13,597,066 (GRCm39) |
I180T |
probably benign |
Het |
| Oxr1 |
T |
C |
15: 41,676,980 (GRCm39) |
V179A |
probably benign |
Het |
| Plaur |
A |
T |
7: 24,166,141 (GRCm39) |
S71C |
possibly damaging |
Het |
| Plbd2 |
T |
C |
5: 120,624,786 (GRCm39) |
N461D |
possibly damaging |
Het |
| Plcb2 |
T |
A |
2: 118,549,396 (GRCm39) |
Y322F |
probably damaging |
Het |
| Prkab2 |
T |
C |
3: 97,569,671 (GRCm39) |
V79A |
probably damaging |
Het |
| Ptpn3 |
A |
T |
4: 57,197,568 (GRCm39) |
C774S |
probably damaging |
Het |
| Ring1 |
A |
C |
17: 34,242,016 (GRCm39) |
L131R |
probably benign |
Het |
| Rxfp2 |
G |
A |
5: 149,975,097 (GRCm39) |
|
probably null |
Het |
| Selenbp1 |
A |
T |
3: 94,845,269 (GRCm39) |
I122F |
probably benign |
Het |
| Septin7 |
A |
G |
9: 25,217,468 (GRCm39) |
H394R |
probably benign |
Het |
| Slc1a7 |
G |
A |
4: 107,864,758 (GRCm39) |
V266I |
probably damaging |
Het |
| Slc2a10 |
A |
G |
2: 165,359,578 (GRCm39) |
T481A |
probably benign |
Het |
| Spmap2l |
T |
C |
5: 77,185,200 (GRCm39) |
|
probably null |
Het |
| Tapbp |
A |
G |
17: 34,144,596 (GRCm39) |
M231V |
probably benign |
Het |
| Tbxas1 |
A |
T |
6: 38,999,981 (GRCm39) |
N256I |
probably benign |
Het |
| Uimc1 |
A |
G |
13: 55,240,998 (GRCm39) |
I30T |
probably damaging |
Het |
| Usp48 |
C |
A |
4: 137,377,669 (GRCm39) |
N231K |
probably benign |
Het |
| Zfhx3 |
T |
G |
8: 109,674,482 (GRCm39) |
V1844G |
possibly damaging |
Het |
| Znrf3 |
A |
T |
11: 5,233,422 (GRCm39) |
C212S |
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 |
|
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'- AGAGTCCTGTGAGAGATGGCTG -3'
(R):5'- CAATCTGGGCCAAAATTAAGAGAC -3'
Sequencing Primer
(F):5'- AATCTGTGGCCGGGTCAAG -3'
(R):5'- TCTGGGCCAAAATTAAGAGACTTCAC -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation