Incidental Mutation 'R1434:Fdx2'
ID 159386
Institutional Source Beutler Lab
Gene Symbol Fdx2
Ensembl Gene ENSMUSG00000079677
Gene Name ferredoxin 2
Synonyms B230118G17Rik, Fdx1l
MMRRC Submission 039489-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1434 (G1)
Quality Score 92
Status Validated
Chromosome 9
Chromosomal Location 20978808-20984827 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 20984694 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Tryptophan at position 37 (G37W)
Ref Sequence ENSEMBL: ENSMUSP00000010348 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010348] [ENSMUST00000115487] [ENSMUST00000213826] [ENSMUST00000217359]
AlphaFold Q9CPW2
Predicted Effect probably benign
Transcript: ENSMUST00000010348
AA Change: G37W

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000010348
Gene: ENSMUSG00000079677
AA Change: G37W

DomainStartEndE-ValueType
Pfam:Fer2 64 147 5.3e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115487
SMART Domains Protein: ENSMUSP00000111150
Gene: ENSMUSG00000010205

DomainStartEndE-ValueType
low complexity region 15 26 N/A INTRINSIC
low complexity region 32 43 N/A INTRINSIC
RRM 60 126 1.53e-10 SMART
RRM 133 206 5.66e-14 SMART
RRM 222 295 1.15e-5 SMART
low complexity region 307 318 N/A INTRINSIC
low complexity region 324 339 N/A INTRINSIC
low complexity region 343 351 N/A INTRINSIC
low complexity region 360 396 N/A INTRINSIC
low complexity region 419 454 N/A INTRINSIC
low complexity region 460 474 N/A INTRINSIC
low complexity region 511 527 N/A INTRINSIC
low complexity region 533 543 N/A INTRINSIC
low complexity region 547 565 N/A INTRINSIC
low complexity region 637 643 N/A INTRINSIC
low complexity region 675 699 N/A INTRINSIC
low complexity region 713 722 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183526
Predicted Effect probably benign
Transcript: ENSMUST00000213826
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215338
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215631
Predicted Effect probably benign
Transcript: ENSMUST00000217282
Predicted Effect probably benign
Transcript: ENSMUST00000217359
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216484
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217150
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.4%
Validation Efficiency 99% (73/74)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ferredoxin family. The encoded protein contains a 2Fe-2S ferredoxin-type domain and is essential for heme A and Fe/S protein biosynthesis. Mutation in FDX1L gene is associated with mitochondrial muscle myopathy. [provided by RefSeq, Sep 2014]
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 G T 1: 71,348,959 (GRCm39) H851N probably benign Het
Adamtsl4 T C 3: 95,588,094 (GRCm39) Y631C probably damaging Het
Ankhd1 A G 18: 36,758,212 (GRCm39) I969V probably benign Het
Apob A G 12: 8,059,715 (GRCm39) I2699M probably damaging Het
Aqr A T 2: 113,980,890 (GRCm39) L297Q probably damaging Het
Arb2a A T 13: 77,910,041 (GRCm39) Y98F probably damaging Het
Camsap1 A G 2: 25,835,190 (GRCm39) Y301H probably damaging Het
Ccdc88c A G 12: 100,905,425 (GRCm39) probably benign Het
Cd209b T A 8: 3,973,367 (GRCm39) I106F possibly damaging Het
Cdkn1b T A 6: 134,898,060 (GRCm39) W60R probably damaging Het
Coasy A G 11: 100,975,822 (GRCm39) probably benign Het
Col2a1 T A 15: 97,877,532 (GRCm39) Q1017L probably damaging Het
Cspg4b G A 13: 113,505,026 (GRCm39) V510I possibly damaging Het
Ctnnal1 T A 4: 56,847,971 (GRCm39) N56I probably damaging Het
Cyb561d2 T A 9: 107,418,842 (GRCm39) probably benign Het
Dcst1 G T 3: 89,259,826 (GRCm39) T632N probably damaging Het
Ddx1 C T 12: 13,287,232 (GRCm39) V267I probably benign Het
Dnah10 A T 5: 124,852,050 (GRCm39) M1736L probably benign Het
Eln G A 5: 134,758,291 (GRCm39) probably benign Het
Elp1 T A 4: 56,781,193 (GRCm39) E493D probably benign Het
Enpp2 A T 15: 54,726,077 (GRCm39) D566E probably damaging Het
Ezh1 T C 11: 101,085,743 (GRCm39) K638R probably damaging Het
Grin2b T C 6: 135,820,193 (GRCm39) I340V probably benign Het
Il16 T C 7: 83,304,520 (GRCm39) T671A probably benign Het
Kcnd2 T A 6: 21,216,356 (GRCm39) M20K probably damaging Het
Kndc1 C T 7: 139,502,600 (GRCm39) S962F probably damaging Het
L1td1 A G 4: 98,626,054 (GRCm39) S750G possibly damaging Het
Lama2 A G 10: 27,084,366 (GRCm39) C935R probably damaging Het
Lgalsl T C 11: 20,776,418 (GRCm39) D158G possibly damaging Het
Lman1 A T 18: 66,126,144 (GRCm39) probably null Het
Lmtk2 A G 5: 144,111,407 (GRCm39) E709G probably damaging Het
Lrfn3 T C 7: 30,055,352 (GRCm39) H531R possibly damaging Het
Mark3 A G 12: 111,589,759 (GRCm39) probably benign Het
Mov10 T C 3: 104,702,490 (GRCm39) E997G probably damaging Het
Myo15a T A 11: 60,395,157 (GRCm39) W2484R probably benign Het
Myo1g G T 11: 6,459,372 (GRCm39) Q833K probably benign Het
Ncoa3 T A 2: 165,897,430 (GRCm39) D740E probably benign Het
Nol12 A G 15: 78,822,153 (GRCm39) probably benign Het
Nrxn2 T A 19: 6,493,642 (GRCm39) probably null Het
Nsfl1c A C 2: 151,342,666 (GRCm39) I79L probably benign Het
Or52b2 T C 7: 104,986,468 (GRCm39) I152V probably benign Het
Or5b108 A G 19: 13,168,662 (GRCm39) I210M probably benign Het
Or5k1 G T 16: 58,617,811 (GRCm39) H133N probably benign Het
Osbpl8 A C 10: 111,127,442 (GRCm39) E842A probably benign Het
Pdxk G T 10: 78,276,645 (GRCm39) T310K probably benign Het
Phip T G 9: 82,841,658 (GRCm39) K54Q probably damaging Het
Pklr A T 3: 89,050,342 (GRCm39) D366V probably damaging Het
Plxna2 T A 1: 194,433,848 (GRCm39) probably benign Het
Ppp4r3a A T 12: 101,009,783 (GRCm39) V618E probably damaging Het
Prdm12 A T 2: 31,530,319 (GRCm39) Q70L possibly damaging Het
Ptgr3 A G 18: 84,112,596 (GRCm39) K91E probably benign Het
Ptpn21 A T 12: 98,654,849 (GRCm39) M706K probably damaging Het
Ptprq A T 10: 107,422,575 (GRCm39) F1606I probably damaging Het
Rasgrp4 T C 7: 28,837,152 (GRCm39) probably null Het
Rlbp1 C A 7: 79,029,661 (GRCm39) probably null Het
Rtp2 T C 16: 23,746,193 (GRCm39) D166G probably benign Het
Ryr3 A C 2: 112,475,604 (GRCm39) F4481V probably damaging Het
Scn2a A G 2: 65,532,335 (GRCm39) D649G possibly damaging Het
Slc30a5 T A 13: 100,939,950 (GRCm39) D655V probably damaging Het
Slco5a1 G A 1: 12,942,132 (GRCm39) A838V probably benign Het
Spata6l G T 19: 28,905,039 (GRCm39) probably benign Het
Srprb A G 9: 103,067,501 (GRCm39) V239A probably damaging Het
Tceanc2 T C 4: 107,004,837 (GRCm39) T104A probably benign Het
Tcp1 T C 17: 13,141,493 (GRCm39) probably null Het
Unc13b C T 4: 43,239,385 (GRCm39) R1056* probably null Het
Wdr19 G A 5: 65,380,847 (GRCm39) probably benign Het
Zfhx4 T A 3: 5,306,919 (GRCm39) H48Q probably benign Het
Zfp787 T A 7: 6,135,234 (GRCm39) H339L probably damaging Het
Zfp839 G T 12: 110,827,333 (GRCm39) R408L probably benign Het
Other mutations in Fdx2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00952:Fdx2 APN 9 20,984,558 (GRCm39) critical splice donor site probably null
IGL02090:Fdx2 APN 9 20,984,766 (GRCm39) missense probably benign 0.00
IGL02207:Fdx2 APN 9 20,979,415 (GRCm39) critical splice acceptor site probably null
R2093:Fdx2 UTSW 9 20,984,720 (GRCm39) missense probably benign 0.05
R4818:Fdx2 UTSW 9 20,979,160 (GRCm39) missense possibly damaging 0.95
R5534:Fdx2 UTSW 9 20,984,562 (GRCm39) missense probably benign 0.01
R5776:Fdx2 UTSW 9 20,984,778 (GRCm39) missense possibly damaging 0.59
R7886:Fdx2 UTSW 9 20,984,623 (GRCm39) splice site probably null
R9593:Fdx2 UTSW 9 20,979,097 (GRCm39) missense probably damaging 1.00
R9663:Fdx2 UTSW 9 20,984,717 (GRCm39) missense probably benign
Z1176:Fdx2 UTSW 9 20,984,788 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- AGAACATTGTCCCCGACTTTGCC -3'
(R):5'- AACGCTGCGTTTACTGTCGCTG -3'

Sequencing Primer
(F):5'- GAggcagggagtggcag -3'
(R):5'- TTACTGTCGCTGAGGACGC -3'
Posted On 2014-03-14