Mutagenetix > Incidental Mutation

Incidental Mutation 'R7539:Fech'

585968

Institutional Source

Beutler Lab

Gene Symbol

Fech

Ensembl Gene

ENSMUSG00000024588

Gene Name

ferrochelatase

Synonyms

Fcl, fch

MMRRC Submission

045611-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7539 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

64589613-64622169 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 64616565 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

SMART Domains

Protein: ENSMUSP00000025484
Gene: ENSMUSG00000024588

Domain	Start	End	E-Value	Type
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: 98.9%

Validation Efficiency

100% (63/63)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930516K23Rik	T	C	7: 103,708,470 (GRCm39)	E113G	probably damaging	Het
Abcf3	T	C	16: 20,371,382 (GRCm39)		probably null	Het
Agbl1	T	C	7: 76,075,677 (GRCm39)		probably null	Het
Ap5m1	C	A	14: 49,311,014 (GRCm39)	P28Q	probably damaging	Het
Bet1l	T	C	7: 140,434,457 (GRCm39)	D83G	probably benign	Het
Birc6	T	C	17: 74,956,691 (GRCm39)	S3571P	probably damaging	Het
Bod1l	A	T	5: 41,975,203 (GRCm39)	M2037K	possibly damaging	Het
Ccdc80	A	T	16: 44,915,445 (GRCm39)	E67V	probably benign	Het
Cep112	A	G	11: 108,746,654 (GRCm39)	M133V	probably benign	Het
Ckmt2	C	A	13: 92,008,063 (GRCm39)	D224Y	probably damaging	Het
Cplane1	A	G	15: 8,230,728 (GRCm39)	I1002V	probably benign	Het
Crb1	T	G	1: 139,175,967 (GRCm39)	K672T	probably damaging	Het
Dnhd1	T	C	7: 105,370,119 (GRCm39)	S4515P	probably damaging	Het
Dock9	A	G	14: 121,818,848 (GRCm39)	S1545P	probably damaging	Het
Dop1a	T	G	9: 86,403,626 (GRCm39)	S145A	probably benign	Het
Eps8l1	T	C	7: 4,473,036 (GRCm39)	S92P	probably damaging	Het
Faap100	T	C	11: 120,268,464 (GRCm39)	D103G	possibly damaging	Het
Folh1	T	A	7: 86,375,117 (GRCm39)	E623V	probably benign	Het
Galnt5	T	C	2: 57,925,242 (GRCm39)	L841P	probably damaging	Het
Ggh	C	G	4: 20,049,833 (GRCm39)	S88C	probably damaging	Het
Gm10577	C	T	4: 100,877,893 (GRCm39)	V1I	unknown	Het
Grip1	T	A	10: 119,890,776 (GRCm39)	H938Q	probably benign	Het
Gucy2g	G	A	19: 55,191,586 (GRCm39)	A955V	probably damaging	Het
Hpd	G	C	5: 123,316,255 (GRCm39)	Y165*	probably null	Het
Iqsec1	C	A	6: 90,639,873 (GRCm39)	R955L	probably benign	Het
Masp1	A	T	16: 23,289,128 (GRCm39)	H557Q	possibly damaging	Het
Muc4	C	T	16: 32,576,770 (GRCm39)	T20M		Het
Myo16	T	C	8: 10,411,095 (GRCm39)		probably null	Het
Nfkb2	T	C	19: 46,296,662 (GRCm39)	F273L	possibly damaging	Het
Nherf2	G	T	17: 24,860,873 (GRCm39)	A223D	probably damaging	Het
Or11l3	A	T	11: 58,516,782 (GRCm39)	I29N	probably damaging	Het
Or1l8	T	C	2: 36,817,221 (GRCm39)	R302G	probably benign	Het
Or2a56	T	C	6: 42,933,037 (GRCm39)	C202R	possibly damaging	Het
Or4k49	T	C	2: 111,494,778 (GRCm39)	V69A	possibly damaging	Het
Or52ab7	A	G	7: 102,977,701 (GRCm39)	S3G	probably benign	Het
Or52e3	T	C	7: 102,869,273 (GRCm39)	V116A	possibly damaging	Het
Or5b124	C	T	19: 13,610,933 (GRCm39)	Q153*	probably null	Het
Or6c2	A	T	10: 129,362,974 (GRCm39)	K293*	probably null	Het
Or6c69	T	C	10: 129,747,932 (GRCm39)	T72A	probably damaging	Het
Or7e174	A	T	9: 20,012,915 (GRCm39)	M287L	probably benign	Het
Parp4	T	A	14: 56,873,212 (GRCm39)	I1152N	probably damaging	Het
Peg3	T	C	7: 6,711,167 (GRCm39)	T1352A	probably benign	Het
Pik3c2a	T	C	7: 115,939,331 (GRCm39)	N1669S	probably damaging	Het
Pinx1	A	T	14: 64,156,655 (GRCm39)	Q194L	probably benign	Het
Podxl2	A	C	6: 88,826,311 (GRCm39)	S268A	probably benign	Het
Polr2c	C	A	8: 95,597,407 (GRCm39)	H363N	unknown	Het
Prlr	C	T	15: 10,329,109 (GRCm39)	T528I	probably benign	Het
Rab37	A	C	11: 115,051,487 (GRCm39)	Q198P	probably benign	Het
Rrm2b	T	A	15: 37,937,595 (GRCm39)		probably null	Het
Serpina3b	T	C	12: 104,096,970 (GRCm39)	S84P	possibly damaging	Het
Stat4	A	T	1: 52,110,868 (GRCm39)		probably null	Het
Them6	T	C	15: 74,595,349 (GRCm39)	I185T	probably damaging	Het
Tmco4	T	A	4: 138,749,010 (GRCm39)	M316K	probably benign	Het
Tmtc4	G	T	14: 123,215,701 (GRCm39)		probably null	Het
Tnni3k	A	T	3: 154,667,668 (GRCm39)	N248K	probably benign	Het
Trim43a	T	A	9: 88,465,096 (GRCm39)	L141Q	probably benign	Het
Utp20	C	T	10: 88,627,607 (GRCm39)	V953M	probably damaging	Het
Vmn2r118	T	A	17: 55,899,853 (GRCm39)	T684S	probably damaging	Het
Wasl	A	T	6: 24,619,197 (GRCm39)	I441N	unknown	Het
Wfikkn2	T	C	11: 94,133,185 (GRCm39)	D64G	probably damaging	Het
Zfp128	C	A	7: 12,624,479 (GRCm39)	Y282*	probably null	Het

Other mutations in Fech

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R7492:Fech	UTSW	18	64,600,842 (GRCm39)	nonsense	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'- CGAGACAGAAGTTACCTCCTTTC -3'
(R):5'- AAAATTTGCAGCCAGGACATG -3'

Sequencing Primer
(F):5'- CAGAAGTTACCTCCTTTCTGGTTGAG -3'
(R):5'- TGGCTAGCTTCTAAGACGATCAAGC -3'

Posted On

2019-10-18