Incidental Mutation 'R7492:Fech'
ID 580888
Institutional Source Beutler Lab
Gene Symbol Fech
Ensembl Gene ENSMUSG00000024588
Gene Name ferrochelatase
Synonyms Fcl, fch
MMRRC Submission 045566-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7492 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 64589613-64622169 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 64600842 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Stop codon at position 220 (W220*)
Ref Sequence ENSEMBL: ENSMUSP00000025484 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025484]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000025484
AA Change: W220*
SMART Domains Protein: ENSMUSP00000025484
Gene: ENSMUSG00000024588
AA Change: W220*

DomainStartEndE-ValueType
low complexity region 1 20 N/A INTRINSIC
Pfam:Ferrochelatase 67 388 5.9e-115 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik A G 15: 81,948,560 (GRCm39) D819G possibly damaging Het
Abca13 A T 11: 9,243,167 (GRCm39) I1677L probably benign Het
Ablim2 A G 5: 35,998,673 (GRCm39) S367G probably benign Het
Afdn G C 17: 14,068,638 (GRCm39) probably null Het
Aldh6a1 A G 12: 84,483,640 (GRCm39) L302P probably damaging Het
Ank3 A G 10: 69,718,357 (GRCm39) D536G unknown Het
Ankrd17 A G 5: 90,381,807 (GRCm39) V2454A possibly damaging Het
Apol7e G A 15: 77,601,656 (GRCm39) E85K possibly damaging Het
Atmin A G 8: 117,683,657 (GRCm39) D439G probably damaging Het
AU040320 G T 4: 126,741,648 (GRCm39) C952F possibly damaging Het
Btbd8 G A 5: 107,658,373 (GRCm39) E1648K probably benign Het
C6 A G 15: 4,761,196 (GRCm39) S19G probably benign Het
Ccdc180 A T 4: 45,930,009 (GRCm39) probably null Het
Cntn1 A C 15: 92,212,423 (GRCm39) T862P probably benign Het
Col5a1 T C 2: 27,859,812 (GRCm39) probably null Het
D430041D05Rik T C 2: 104,031,650 (GRCm39) K964E probably damaging Het
Dnajc18 T C 18: 35,819,846 (GRCm39) Y145C probably damaging Het
Dsc1 C T 18: 20,240,737 (GRCm39) C196Y possibly damaging Het
Efcab11 A C 12: 99,844,660 (GRCm39) I58R possibly damaging Het
Fam81b T A 13: 76,419,398 (GRCm39) I51F probably benign Het
Fbln1 G A 15: 85,111,262 (GRCm39) V139M probably damaging Het
Fbxw25 A G 9: 109,493,598 (GRCm39) probably null Het
Fgl1 C T 8: 41,644,624 (GRCm39) W293* probably null Het
Firrm A G 1: 163,786,897 (GRCm39) I724T probably benign Het
Foxi2 T C 7: 135,012,301 (GRCm39) L63P probably damaging Het
Frmpd1 A G 4: 45,285,237 (GRCm39) R1353G possibly damaging Het
Fthl17b C T X: 8,829,043 (GRCm39) R9Q possibly damaging Het
Fthl17b C T X: 8,829,047 (GRCm39) V8M possibly damaging Het
Galnt5 T A 2: 57,916,048 (GRCm39) probably null Het
Glb1 A T 9: 114,303,017 (GRCm39) I618F probably damaging Het
Hs2st1 A T 3: 144,141,357 (GRCm39) M237K probably benign Het
Ighm T C 12: 113,386,293 (GRCm39) D19G Het
Il1f10 A G 2: 24,182,829 (GRCm39) D35G probably benign Het
Itpr2 G A 6: 146,292,436 (GRCm39) T419I probably damaging Het
Khdc1a A T 1: 21,420,542 (GRCm39) E54V possibly damaging Het
Kif19a A G 11: 114,681,065 (GRCm39) D991G probably benign Het
Klhl18 A C 9: 110,257,843 (GRCm39) Y532* probably null Het
Lama1 T C 17: 68,124,646 (GRCm39) F2902S Het
Lrba T C 3: 86,571,835 (GRCm39) S2380P probably damaging Het
Lrp2 T A 2: 69,367,925 (GRCm39) I196F probably damaging Het
Macf1 T C 4: 123,369,524 (GRCm39) K1746E possibly damaging Het
Megf10 T C 18: 57,424,866 (GRCm39) Y1002H probably benign Het
Megf8 A G 7: 25,053,273 (GRCm39) T1815A probably benign Het
Mtg1 T C 7: 139,724,610 (GRCm39) L162P probably damaging Het
Myo6 T A 9: 80,195,328 (GRCm39) Y899* probably null Het
Nlrp9a A T 7: 26,257,081 (GRCm39) D233V probably damaging Het
Or10al6 A T 17: 38,082,571 (GRCm39) Q9L possibly damaging Het
Or2z2 T A 11: 58,346,715 (GRCm39) N20I probably benign Het
Or4k45 C A 2: 111,395,166 (GRCm39) V208L probably benign Het
Or6c201 T A 10: 128,969,509 (GRCm39) I43F probably damaging Het
Or8k36-ps1 T A 2: 86,437,063 (GRCm39) N284I unknown Het
Parvb A T 15: 84,174,651 (GRCm39) Q148L probably damaging Het
Pcdhb11 C T 18: 37,556,497 (GRCm39) T609M probably damaging Het
Pcdhga3 A T 18: 37,809,178 (GRCm39) T544S probably benign Het
Pkd1 C G 17: 24,788,715 (GRCm39) I824M probably benign Het
Pkd1l2 A T 8: 117,794,849 (GRCm39) L370Q probably damaging Het
Plcb1 G T 2: 135,093,684 (GRCm39) E166* probably null Het
Pnpt1 A G 11: 29,085,522 (GRCm39) I138V probably benign Het
Pou4f3 T C 18: 42,528,996 (GRCm39) L313P probably damaging Het
Pramel21 C A 4: 143,342,744 (GRCm39) Q284K not run Het
Prep A G 10: 44,996,910 (GRCm39) Y396C probably damaging Het
Prkd3 A T 17: 79,269,974 (GRCm39) C562* probably null Het
Prss12 T A 3: 123,276,425 (GRCm39) C351* probably null Het
Rnf41 C A 10: 128,274,283 (GRCm39) H312N probably damaging Het
Ror1 C T 4: 100,298,256 (GRCm39) T543I probably benign Het
Rreb1 G A 13: 38,115,724 (GRCm39) V1028I probably benign Het
Setd2 T A 9: 110,423,700 (GRCm39) S474T Het
Slc1a2 T A 2: 102,570,275 (GRCm39) C184* probably null Het
Slc2a4 G A 11: 69,837,202 (GRCm39) T78I probably benign Het
Slc4a4 T A 5: 89,277,509 (GRCm39) I317N possibly damaging Het
Smad9 G A 3: 54,693,747 (GRCm39) probably null Het
Sst T C 16: 23,708,576 (GRCm39) E85G probably damaging Het
Sting1 T C 18: 35,871,766 (GRCm39) Y162C probably damaging Het
Svep1 T G 4: 58,066,468 (GRCm39) E3205D possibly damaging Het
Tmc7 G T 7: 118,141,189 (GRCm39) S647R probably benign Het
Trnt1 T C 6: 106,751,493 (GRCm39) S157P possibly damaging Het
Ttc6 A T 12: 57,719,922 (GRCm39) H831L probably benign Het
Vmn1r121 A G 7: 20,832,095 (GRCm39) F115S probably damaging Het
Vwa7 A G 17: 35,238,020 (GRCm39) D207G possibly damaging Het
Vwde C A 6: 13,204,980 (GRCm39) K300N probably null Het
Zfp418 A G 7: 7,184,396 (GRCm39) T120A possibly damaging Het
Zfp687 C T 3: 94,914,841 (GRCm39) R1220H probably damaging Het
Other mutations in Fech
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0652:Fech UTSW 18 64,591,240 (GRCm39) missense probably damaging 1.00
R1468:Fech UTSW 18 64,603,744 (GRCm39) splice site probably benign
R1619:Fech UTSW 18 64,595,189 (GRCm39) missense probably damaging 1.00
R1652:Fech UTSW 18 64,591,269 (GRCm39) missense probably benign
R2020:Fech UTSW 18 64,611,798 (GRCm39) missense probably damaging 0.99
R2082:Fech UTSW 18 64,591,260 (GRCm39) missense probably damaging 0.99
R5334:Fech UTSW 18 64,597,191 (GRCm39) missense probably damaging 1.00
R5930:Fech UTSW 18 64,611,720 (GRCm39) critical splice donor site probably null
R6349:Fech UTSW 18 64,603,856 (GRCm39) nonsense probably null
R6365:Fech UTSW 18 64,591,251 (GRCm39) missense probably benign 0.00
R7412:Fech UTSW 18 64,591,255 (GRCm39) missense probably benign 0.00
R7539:Fech UTSW 18 64,616,565 (GRCm39) splice site probably null
R7545:Fech UTSW 18 64,597,185 (GRCm39) missense probably damaging 1.00
R9267:Fech UTSW 18 64,591,267 (GRCm39) missense possibly damaging 0.77
R9695:Fech UTSW 18 64,600,803 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AACGGAGTGGTGTTAACTCG -3'
(R):5'- TCGCTGGGTTGTTAAATCTATATGC -3'

Sequencing Primer
(F):5'- TGTTAACTCGCAGCATGCAG -3'
(R):5'- AAGATTGTAATTAGACTGGGTTTCTG -3'
Posted On 2019-10-17