Incidental Mutation 'R2020:Fech'
ID 223901
Institutional Source Beutler Lab
Gene Symbol Fech
Ensembl Gene ENSMUSG00000024588
Gene Name ferrochelatase
Synonyms fch, Fcl
MMRRC Submission 040029-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2020 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 64456550-64489066 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 64478727 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 79 (E79K)
Ref Sequence ENSEMBL: ENSMUSP00000025484 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025484]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000025484
AA Change: E79K

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000025484
Gene: ENSMUSG00000024588
AA Change: E79K

low complexity region 1 20 N/A INTRINSIC
Pfam:Ferrochelatase 67 388 5.9e-115 PFAM
Meta Mutation Damage Score 0.1899 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.6%
Validation Efficiency 99% (87/88)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is localized to the mitochondrion, where it catalyzes the insertion of the ferrous form of iron into protoporphyrin IX in the heme synthesis pathway. Mutations in this gene are associated with erythropoietic protoporphyria. Two transcript variants encoding different isoforms have been found for this gene. A pseudogene of this gene is found on chromosome 3.[provided by RefSeq, May 2010]
PHENOTYPE: Homozygotes for an ENU-induced mutation exhibit hemolytic anemia, photosensitivity, cholestasis, and hepatic dysfunction. Homozygotes for a targeted null mutation die prior to embryonic day 3.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600012P17Rik C A 1: 158,968,912 (GRCm38) noncoding transcript Het
9530053A07Rik T C 7: 28,155,594 (GRCm38) S1882P probably benign Het
Adam17 G A 12: 21,349,875 (GRCm38) R177C probably damaging Het
Ak7 G A 12: 105,745,332 (GRCm38) probably null Het
Akap9 T C 5: 3,961,967 (GRCm38) V890A probably damaging Het
Alg6 A G 4: 99,738,132 (GRCm38) N59S probably damaging Het
Alkbh5 G T 11: 60,538,549 (GRCm38) A43S probably benign Het
Anxa2 C A 9: 69,483,817 (GRCm38) D162E probably damaging Het
Arap1 A G 7: 101,401,518 (GRCm38) H1136R probably benign Het
Arhgap18 A G 10: 26,854,904 (GRCm38) R121G probably benign Het
Arhgef4 A T 1: 34,723,810 (GRCm38) T716S unknown Het
Atg2a T C 19: 6,250,269 (GRCm38) probably null Het
Ccdc27 T C 4: 154,033,313 (GRCm38) I480V probably null Het
Cdipt T C 7: 126,976,933 (GRCm38) V20A possibly damaging Het
Cgrrf1 C T 14: 46,830,445 (GRCm38) probably benign Het
Chd7 G A 4: 8,855,226 (GRCm38) V2152I probably benign Het
Chd8 T A 14: 52,215,241 (GRCm38) S1274C probably damaging Het
Chuk A T 19: 44,107,343 (GRCm38) M17K possibly damaging Het
Col14a1 C T 15: 55,446,181 (GRCm38) probably benign Het
Col20a1 G A 2: 181,013,163 (GRCm38) probably null Het
Cped1 A G 6: 22,143,964 (GRCm38) I570V probably benign Het
Cul9 C G 17: 46,522,175 (GRCm38) A1326P probably damaging Het
Ddx27 A C 2: 167,033,771 (GRCm38) Q674P probably damaging Het
Dennd6a T A 14: 26,612,003 (GRCm38) F131L probably damaging Het
Dhx38 G A 8: 109,556,869 (GRCm38) probably benign Het
Dido1 G T 2: 180,659,585 (GRCm38) N2175K unknown Het
Dmxl1 T A 18: 49,889,558 (GRCm38) Y1654* probably null Het
Dock7 T A 4: 98,959,101 (GRCm38) H1658L probably damaging Het
Dync2h1 T A 9: 7,122,772 (GRCm38) E2061D probably damaging Het
Dync2h1 T C 9: 7,162,925 (GRCm38) I555V probably benign Het
Eif2ak2 T C 17: 78,863,963 (GRCm38) E337G possibly damaging Het
Fabp12 T A 3: 10,250,149 (GRCm38) D46V probably benign Het
Flnc A T 6: 29,444,363 (GRCm38) I693F probably damaging Het
Foxp2 G A 6: 15,324,644 (GRCm38) C97Y possibly damaging Het
Grin2b A G 6: 135,733,896 (GRCm38) M884T probably benign Het
Gtf2ird1 T C 5: 134,417,093 (GRCm38) D28G probably damaging Het
Gtf3c4 C A 2: 28,833,894 (GRCm38) G468W possibly damaging Het
Ift172 A T 5: 31,267,241 (GRCm38) L201* probably null Het
Il1rl2 C A 1: 40,365,214 (GRCm38) S498R probably damaging Het
Ildr1 C T 16: 36,725,541 (GRCm38) R489W probably damaging Het
Itga10 G A 3: 96,652,490 (GRCm38) G487D probably damaging Het
Klk8 A G 7: 43,799,216 (GRCm38) N128D probably benign Het
Lgr6 G A 1: 135,075,275 (GRCm38) T79M probably damaging Het
Med6 T C 12: 81,573,877 (GRCm38) T232A probably benign Het
Mgat4e A G 1: 134,541,322 (GRCm38) L328P probably damaging Het
Mttp A G 3: 138,118,402 (GRCm38) Y138H probably damaging Het
Ngef T C 1: 87,545,968 (GRCm38) R31G probably benign Het
Nipsnap2 C A 5: 129,753,223 (GRCm38) probably null Het
Nlgn2 G T 11: 69,828,441 (GRCm38) N194K probably damaging Het
Olfr1026 A G 2: 85,923,743 (GRCm38) I158M probably benign Het
Olfr1245 A T 2: 89,574,961 (GRCm38) M255K possibly damaging Het
Olfr1450 G A 19: 12,954,332 (GRCm38) V248I possibly damaging Het
Olfr357 G A 2: 36,997,652 (GRCm38) V281M possibly damaging Het
Olfr894 A G 9: 38,219,432 (GRCm38) Y203C possibly damaging Het
Pcca T A 14: 122,813,222 (GRCm38) M101K possibly damaging Het
Plekha6 A G 1: 133,284,970 (GRCm38) T671A possibly damaging Het
Prex2 G A 1: 11,162,312 (GRCm38) V868M probably damaging Het
Prkcq G A 2: 11,279,521 (GRCm38) V501I probably benign Het
Prom1 T A 5: 44,011,253 (GRCm38) probably benign Het
Ptprd A G 4: 76,133,161 (GRCm38) V41A probably damaging Het
Rab39 C T 9: 53,686,398 (GRCm38) G189E possibly damaging Het
Ret T C 6: 118,180,382 (GRCm38) K236E possibly damaging Het
Rfx6 G A 10: 51,720,057 (GRCm38) probably null Het
Rnf213 A G 11: 119,461,918 (GRCm38) T3916A probably damaging Het
Rpn1 A G 6: 88,095,683 (GRCm38) N336S probably damaging Het
Sag G A 1: 87,805,315 (GRCm38) A2T probably damaging Het
Sco2 T C 15: 89,371,860 (GRCm38) Y197C probably damaging Het
Sec23b T C 2: 144,566,944 (GRCm38) I183T possibly damaging Het
Sec24b C T 3: 129,987,728 (GRCm38) V1166M probably damaging Het
Slc27a5 A T 7: 12,993,412 (GRCm38) F361Y probably damaging Het
Spaca9 A G 2: 28,696,001 (GRCm38) L17P probably damaging Het
Sqor T C 2: 122,804,107 (GRCm38) probably null Het
Stx18 A G 5: 38,135,244 (GRCm38) H230R probably damaging Het
Tas2r130 A T 6: 131,630,769 (GRCm38) I21N probably damaging Het
Tcaf3 A G 6: 42,593,724 (GRCm38) S365P possibly damaging Het
Tinagl1 G A 4: 130,166,972 (GRCm38) H351Y probably damaging Het
Tmc2 T C 2: 130,232,385 (GRCm38) Y333H probably damaging Het
Trp53bp2 A T 1: 182,442,819 (GRCm38) T395S probably damaging Het
Tsc22d1 T C 14: 76,418,333 (GRCm38) S751P probably damaging Het
Ttc30a1 A G 2: 75,980,935 (GRCm38) V268A probably benign Het
Ttn A G 2: 76,827,024 (GRCm38) probably benign Het
Ugdh T C 5: 65,416,925 (GRCm38) Y425C probably damaging Het
Vmn1r115 G A 7: 20,844,169 (GRCm38) L273F probably null Het
Vmn2r109 A T 17: 20,541,186 (GRCm38) C636* probably null Het
Vmn2r59 A C 7: 42,043,779 (GRCm38) Y466D probably damaging Het
Zic5 C T 14: 122,464,830 (GRCm38) G163D unknown Het
Other mutations in Fech
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0652:Fech UTSW 18 64,458,169 (GRCm38) missense probably damaging 1.00
R1468:Fech UTSW 18 64,470,673 (GRCm38) splice site probably benign
R1619:Fech UTSW 18 64,462,118 (GRCm38) missense probably damaging 1.00
R1652:Fech UTSW 18 64,458,198 (GRCm38) missense probably benign
R2082:Fech UTSW 18 64,458,189 (GRCm38) missense probably damaging 0.99
R5334:Fech UTSW 18 64,464,120 (GRCm38) missense probably damaging 1.00
R5930:Fech UTSW 18 64,478,649 (GRCm38) critical splice donor site probably null
R6349:Fech UTSW 18 64,470,785 (GRCm38) nonsense probably null
R6365:Fech UTSW 18 64,458,180 (GRCm38) missense probably benign 0.00
R7412:Fech UTSW 18 64,458,184 (GRCm38) missense probably benign 0.00
R7492:Fech UTSW 18 64,467,771 (GRCm38) nonsense probably null
R7539:Fech UTSW 18 64,483,494 (GRCm38) splice site probably null
R7545:Fech UTSW 18 64,464,114 (GRCm38) missense probably damaging 1.00
R9267:Fech UTSW 18 64,458,196 (GRCm38) missense possibly damaging 0.77
R9695:Fech UTSW 18 64,467,732 (GRCm38) missense probably damaging 0.99
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-08-25