Incidental Mutation 'R6130:Fdxacb1'
ID 487095
Institutional Source Beutler Lab
Gene Symbol Fdxacb1
Ensembl Gene ENSMUSG00000037845
Gene Name ferredoxin-fold anticodon binding domain containing 1
Synonyms D630004A14Rik
MMRRC Submission 044277-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6130 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 50679538-50683981 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 50683902 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 420 (R420*)
Ref Sequence ENSEMBL: ENSMUSP00000135658 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034561] [ENSMUST00000042391] [ENSMUST00000042468] [ENSMUST00000159576] [ENSMUST00000162073] [ENSMUST00000176335] [ENSMUST00000177384] [ENSMUST00000177546] [ENSMUST00000176238] [ENSMUST00000176145]
AlphaFold Q3UY23
Predicted Effect probably benign
Transcript: ENSMUST00000034561
SMART Domains Protein: ENSMUSP00000034561
Gene: ENSMUSG00000032059

DomainStartEndE-ValueType
Pfam:Glyco_transf_22 60 482 3.5e-127 PFAM
low complexity region 598 611 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000042391
AA Change: R622*
SMART Domains Protein: ENSMUSP00000037082
Gene: ENSMUSG00000037845
AA Change: R622*

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:DUF1143 1 149 7.7e-107 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159576
SMART Domains Protein: ENSMUSP00000123711
Gene: ENSMUSG00000032059

DomainStartEndE-ValueType
Pfam:Glyco_transf_22 60 228 1e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162073
SMART Domains Protein: ENSMUSP00000125425
Gene: ENSMUSG00000032059

DomainStartEndE-ValueType
Pfam:Glyco_transf_22 60 167 7.5e-31 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162363
Predicted Effect probably null
Transcript: ENSMUST00000176335
AA Change: R420*
SMART Domains Protein: ENSMUSP00000135658
Gene: ENSMUSG00000037845
AA Change: R420*

DomainStartEndE-ValueType
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: ENSMUST00000176160
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177022
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176894
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177142
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176619
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162442
Predicted Effect probably benign
Transcript: ENSMUST00000177384
Predicted Effect probably benign
Transcript: ENSMUST00000177546
SMART Domains Protein: ENSMUSP00000134870
Gene: ENSMUSG00000037971

DomainStartEndE-ValueType
Pfam:DUF1143 13 72 3.3e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000176238
SMART Domains Protein: ENSMUSP00000135679
Gene: ENSMUSG00000037971

DomainStartEndE-ValueType
Pfam:DUF1143 1 70 4.2e-47 PFAM
Pfam:DUF1143 68 126 5.3e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000176145
SMART Domains Protein: ENSMUSP00000135796
Gene: ENSMUSG00000037845

DomainStartEndE-ValueType
Pfam:DUF2431 7 115 4.2e-33 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.1%
Validation Efficiency 96% (46/48)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930553M12Rik T C 4: 88,786,596 (GRCm39) I7M unknown Het
Abi3 T A 11: 95,727,921 (GRCm39) E90V probably damaging Het
Adgrv1 A C 13: 81,575,864 (GRCm39) V4834G probably damaging Het
Aen A T 7: 78,552,387 (GRCm39) probably null Het
Ankrd55 A G 13: 112,454,980 (GRCm39) D26G probably damaging Het
Antxr2 T C 5: 98,152,131 (GRCm39) E160G possibly damaging Het
Auts2 T C 5: 131,469,061 (GRCm39) H528R probably damaging Het
Casd1 A G 6: 4,641,948 (GRCm39) T742A probably damaging Het
Ccdc39 T C 3: 33,895,341 (GRCm39) probably null Het
Ctla4 T C 1: 60,951,650 (GRCm39) Y60H probably damaging Het
Dennd4b T C 3: 90,183,566 (GRCm39) L935P probably damaging Het
Dnah6 T A 6: 73,165,477 (GRCm39) T543S probably benign Het
Dnai3 A C 3: 145,748,559 (GRCm39) Y852D probably benign Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Fbxo6 A T 4: 148,233,979 (GRCm39) I39N probably damaging Het
Flg A G 3: 93,200,023 (GRCm39) probably benign Het
Fpr1 T A 17: 18,097,897 (GRCm39) I31F probably benign Het
Gm10549 C A 18: 33,597,358 (GRCm39) probably benign Het
Gsta1 T A 9: 78,149,847 (GRCm39) F220Y probably damaging Het
Hmg20a T A 9: 56,395,891 (GRCm39) probably null Het
Igf2bp1 A C 11: 95,864,846 (GRCm39) L201R probably damaging Het
Jph3 G A 8: 122,479,826 (GRCm39) R168H probably damaging Het
Kif1a T A 1: 92,964,623 (GRCm39) I1318F probably damaging Het
Lamc2 T C 1: 153,012,523 (GRCm39) N717S probably benign Het
Lepr A T 4: 101,622,569 (GRCm39) S450C probably damaging Het
Muc16 A G 9: 18,501,994 (GRCm39) V6535A probably damaging Het
Myom3 A G 4: 135,489,882 (GRCm39) T18A probably benign Het
Nlrp5 A G 7: 23,103,598 (GRCm39) K22E probably benign Het
Obscn A C 11: 58,968,771 (GRCm39) S2534A possibly damaging Het
Or1j21 A T 2: 36,684,055 (GRCm39) D269V probably benign Het
Or2ak5 A G 11: 58,611,133 (GRCm39) V247A probably damaging Het
Pcdhga8 T A 18: 37,860,580 (GRCm39) N545K possibly damaging Het
Pcsk5 A T 19: 17,488,920 (GRCm39) Y967N probably damaging Het
Robo2 C T 16: 73,717,570 (GRCm39) G100S probably benign Het
Rsf1 G A 7: 97,229,117 (GRCm39) probably benign Het
Saxo4 G A 19: 10,455,128 (GRCm39) P233L probably benign Het
Scap A G 9: 110,209,447 (GRCm39) T707A possibly damaging Het
Scarf1 A G 11: 75,416,565 (GRCm39) Q669R probably benign Het
Scin T C 12: 40,119,435 (GRCm39) D531G probably benign Het
Sh2b3 T C 5: 121,953,626 (GRCm39) probably null Het
Slco1a6 T C 6: 142,032,155 (GRCm39) S657G probably benign Het
Stil T A 4: 114,887,058 (GRCm39) probably null Het
Syna T A 5: 134,587,122 (GRCm39) Q609L possibly damaging Het
Tmem59l A G 8: 70,937,255 (GRCm39) S271P probably damaging Het
Tns2 A G 15: 102,019,676 (GRCm39) E522G probably damaging Het
Trappc6a G A 7: 19,249,219 (GRCm39) A149T probably benign Het
Trim21 A T 7: 102,212,498 (GRCm39) L156H possibly damaging Het
Trpv3 A G 11: 73,187,309 (GRCm39) R714G possibly damaging Het
Zfp87 T A 13: 74,520,460 (GRCm39) Q206L possibly damaging Het
Other mutations in Fdxacb1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- CTGGAGTTTCACACTGTGGC -3'
(R):5'- GGGCCATCAACACTACTTGG -3'

Sequencing Primer
(F):5'- AGTTTCACACTGTGGCCCGAG -3'
(R):5'- GCCATCAACACTACTTGGGTCAC -3'
Posted On 2017-10-10