Incidental Mutation 'IGL02799:Fdxacb1'
ID 392280
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) question?
Stock # IGL02799 (G1)
Quality Score 161
Status Validated
Chromosome 9
Chromosomal Location 50679538-50683981 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 50683896 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 620 (S620T)
Ref Sequence ENSEMBL: ENSMUSP00000037082 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034561] [ENSMUST00000042391] [ENSMUST00000042468] [ENSMUST00000159576] [ENSMUST00000162073] [ENSMUST00000176335] [ENSMUST00000177384] [ENSMUST00000176145] [ENSMUST00000176238] [ENSMUST00000177546]
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 benign
Transcript: ENSMUST00000042391
AA Change: S620T

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000037082
Gene: ENSMUSG00000037845
AA Change: S620T

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 benign
Transcript: ENSMUST00000176335
AA Change: S418T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000135658
Gene: ENSMUSG00000037845
AA Change: S418T

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: ENSMUST00000176619
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: ENSMUST00000162442
Predicted Effect probably benign
Transcript: ENSMUST00000177384
Predicted Effect probably benign
Transcript: ENSMUST00000176145
SMART Domains Protein: ENSMUSP00000135796
Gene: ENSMUSG00000037845

DomainStartEndE-ValueType
Pfam:DUF2431 7 115 4.2e-33 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: ENSMUST00000177546
SMART Domains Protein: ENSMUSP00000134870
Gene: ENSMUSG00000037971

DomainStartEndE-ValueType
Pfam:DUF1143 13 72 3.3e-39 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 99% (67/68)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add2 A G 6: 86,083,234 (GRCm39) N444S possibly damaging Het
Atp2b2 A T 6: 113,739,813 (GRCm39) Y823* probably null Het
Atp2c1 A C 9: 105,290,242 (GRCm39) probably benign Het
Capns1 A T 7: 29,891,644 (GRCm39) D133E probably benign Het
Cast A G 13: 74,884,871 (GRCm39) V361A probably damaging Het
Cd69 G A 6: 129,245,223 (GRCm39) probably benign Het
Celsr2 T A 3: 108,321,378 (GRCm39) D478V probably damaging Het
Cenpf T C 1: 189,391,849 (GRCm39) E661G probably damaging Het
Chrna1 A G 2: 73,404,985 (GRCm39) probably benign Het
Clec5a C A 6: 40,554,983 (GRCm39) V138F probably damaging Het
Ctsj T A 13: 61,151,634 (GRCm39) I95F probably benign Het
Dcaf1 T A 9: 106,735,139 (GRCm39) S696T probably benign Het
Dcp1a T C 14: 30,241,636 (GRCm39) probably null Het
Dnajc14 C T 10: 128,642,725 (GRCm39) P216S possibly damaging Het
Dst T C 1: 34,218,930 (GRCm39) I1790T possibly damaging Het
Ehmt1 A T 2: 24,705,818 (GRCm39) H789Q probably damaging Het
Exoc7 A T 11: 116,192,007 (GRCm39) L188Q probably damaging Het
Faap100 A G 11: 120,261,561 (GRCm39) L823P probably damaging Het
Fhl2 C T 1: 43,167,562 (GRCm39) R177Q probably benign Het
Gars1 C A 6: 55,040,084 (GRCm39) T337K probably damaging Het
Ggta1 A T 2: 35,312,211 (GRCm39) F56I probably damaging Het
Gm10715 A C 9: 3,038,062 (GRCm39) probably benign Het
Gpr108 T A 17: 57,544,482 (GRCm39) I343F probably damaging Het
Gpr12 T A 5: 146,520,629 (GRCm39) I98F possibly damaging Het
Hk2 A G 6: 82,737,219 (GRCm39) L3P probably damaging Het
Imp4 C A 1: 34,479,258 (GRCm39) probably benign Het
Insrr G A 3: 87,720,888 (GRCm39) V1049M probably damaging Het
Klhl24 T C 16: 19,933,331 (GRCm39) V314A probably damaging Het
Krt32 A T 11: 99,978,733 (GRCm39) V107D possibly damaging Het
Krtap5-1 G A 7: 141,850,242 (GRCm39) Q189* probably null Het
Lrrc9 A G 12: 72,553,178 (GRCm39) E1360G probably damaging Het
Mdc1 G T 17: 36,157,083 (GRCm39) L163F possibly damaging Het
Mroh1 T G 15: 76,276,661 (GRCm39) probably null Het
Myh8 A G 11: 67,192,418 (GRCm39) probably benign Het
Ndufab1 A T 7: 121,692,949 (GRCm39) probably benign Het
Nek3 A G 8: 22,648,735 (GRCm39) probably benign Het
Ngly1 A T 14: 16,260,636 (GRCm38) I107L probably benign Het
Nkain4 A T 2: 180,577,728 (GRCm39) probably null Het
Nsd2 T A 5: 34,022,132 (GRCm39) probably benign Het
Or4n4 A G 14: 50,518,801 (GRCm39) I303T probably benign Het
Or5e1 A T 7: 108,354,830 (GRCm39) M256L probably benign Het
Or5t9 A T 2: 86,659,300 (GRCm39) H68L probably damaging Het
Or7e166 T A 9: 19,624,314 (GRCm39) Y64N probably damaging Het
Or8b12 T A 9: 37,657,805 (GRCm39) I125N probably damaging Het
Pcnt G A 10: 76,248,417 (GRCm39) Q901* probably null Het
Pctp C A 11: 89,881,913 (GRCm39) W81C probably damaging Het
Pik3r5 A T 11: 68,386,773 (GRCm39) I801F probably damaging Het
Ptprj A T 2: 90,299,942 (GRCm39) N193K probably benign Het
Rab11fip1 A T 8: 27,642,788 (GRCm39) D670E probably benign Het
Racgap1 T C 15: 99,530,628 (GRCm39) K201E probably benign Het
Ranbp2 T C 10: 58,316,086 (GRCm39) F2269L probably damaging Het
Rint1 C A 5: 24,024,478 (GRCm39) A760D possibly damaging Het
Ryr2 G A 13: 11,680,848 (GRCm39) P3166S probably damaging Het
Snap29 A G 16: 17,240,367 (GRCm39) N158D probably benign Het
Speer4c1 A C 5: 15,919,214 (GRCm39) probably benign Het
St6galnac1 G T 11: 116,657,473 (GRCm39) probably benign Het
Strc G A 2: 121,209,717 (GRCm39) T202I probably damaging Het
Stxbp4 A G 11: 90,385,426 (GRCm39) probably null Het
Syne1 A T 10: 5,309,059 (GRCm39) M650K probably damaging Het
Tbc1d2b C T 9: 90,105,487 (GRCm39) probably benign Het
Tcfl5 A T 2: 180,280,419 (GRCm39) I328N possibly damaging Het
Tenm2 A G 11: 36,164,235 (GRCm39) Y337H probably damaging Het
Tgfbr2 T C 9: 115,939,204 (GRCm39) K233E possibly damaging Het
Tnk2 T C 16: 32,484,699 (GRCm39) probably benign Het
Trbv13-2 A G 6: 41,098,471 (GRCm39) probably benign Het
Tut4 T C 4: 108,370,725 (GRCm39) Y875H probably benign Het
Usp6nl T A 2: 6,432,360 (GRCm39) probably benign Het
Vmn2r62 A G 7: 42,437,396 (GRCm39) S363P possibly damaging Het
Vnn3 T C 10: 23,727,869 (GRCm39) I93T possibly damaging Het
Ylpm1 A G 12: 85,091,258 (GRCm39) D1108G probably damaging Het
Zbtb17 G A 4: 141,190,691 (GRCm39) G170S probably benign Het
Zfyve26 T C 12: 79,320,084 (GRCm39) E1087G probably benign 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
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
Predicted Primers PCR Primer
(F):5'- ACTGTCGTGTCTGTACAGTACC -3'
(R):5'- AGCCAGCCTATGCATTAAATGATG -3'

Sequencing Primer
(F):5'- CGTGATCGTTTTCAGCATCCAGAG -3'
(R):5'- TTAGGGGCCATCAACACTACTTGG -3'
Posted On 2016-06-09