Mutagenetix > Incidental Mutation

Incidental Mutation 'R2082:Fech'

230118

Institutional Source

Beutler Lab

Gene Symbol

Fech

Ensembl Gene

ENSMUSG00000024588

Gene Name

ferrochelatase

Synonyms

Fcl, fch

MMRRC Submission

040087-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2082 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

64589613-64622169 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 64591260 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 388 (I388N)

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: I388N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000025484
Gene: ENSMUSG00000024588
AA Change: I388N

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	T	A	2: 30,686,391 (GRCm39)		probably null	Het
4933427I04Rik	A	G	4: 123,754,769 (GRCm39)	I228V	probably benign	Het
Aco2	T	C	15: 81,797,896 (GRCm39)	W657R	possibly damaging	Het
Acsm2	T	A	7: 119,179,857 (GRCm39)	H333Q	probably benign	Het
Adamts18	C	T	8: 114,501,965 (GRCm39)	V299I	probably damaging	Het
Adat2	G	A	10: 13,435,907 (GRCm39)	C84Y	probably damaging	Het
Arhgef11	C	T	3: 87,633,303 (GRCm39)	T690I	possibly damaging	Het
Cachd1	A	G	4: 100,860,155 (GRCm39)	D1242G	probably damaging	Het
Casp14	A	G	10: 78,550,867 (GRCm39)	M106T	probably benign	Het
Ccdc69	T	A	11: 54,943,215 (GRCm39)	I130F	probably damaging	Het
Cdk9	A	G	2: 32,599,513 (GRCm39)	L189P	probably damaging	Het
Cfhr1	C	T	1: 139,478,624 (GRCm39)	V249I	possibly damaging	Het
Chst1	T	C	2: 92,444,335 (GRCm39)	V269A	possibly damaging	Het
Col18a1	G	T	10: 76,895,127 (GRCm39)	P1178Q	probably damaging	Het
Col6a1	A	G	10: 76,545,430 (GRCm39)	L1014P	probably damaging	Het
Crisp3	T	C	17: 40,536,751 (GRCm39)	Y188C	probably damaging	Het
Dse	G	A	10: 34,031,936 (GRCm39)	R363C	probably damaging	Het
Exoc5	T	C	14: 49,253,044 (GRCm39)	I525V	probably benign	Het
Fmnl1	T	C	11: 103,082,851 (GRCm39)	L363P	probably damaging	Het
Gm10842	T	A	11: 105,037,909 (GRCm39)	L64Q	unknown	Het
Gm8225	C	A	17: 26,762,670 (GRCm39)	P287Q	possibly damaging	Het
Hsp90aa1	A	T	12: 110,659,261 (GRCm39)	L512H	probably damaging	Het
Ifi30	T	C	8: 71,216,373 (GRCm39)		probably benign	Het
Iqsec1	A	T	6: 90,671,556 (GRCm39)	D115E	probably damaging	Het
Kcnu1	T	A	8: 26,411,577 (GRCm39)	L174H	probably damaging	Het
Krt10	A	G	11: 99,279,701 (GRCm39)	V153A	probably damaging	Het
Krt18	G	A	15: 101,939,455 (GRCm39)		probably null	Het
Micu1	A	G	10: 59,699,129 (GRCm39)	T469A	probably benign	Het
Mtss2	T	C	8: 111,452,889 (GRCm39)		probably null	Het
Myo10	T	A	15: 25,786,079 (GRCm39)	F1253L	probably damaging	Het
N4bp2	A	T	5: 65,964,908 (GRCm39)	T986S	probably damaging	Het
Naip6	C	A	13: 100,440,852 (GRCm39)		probably null	Het
Nphp4	G	A	4: 152,643,821 (GRCm39)	V1117M	probably benign	Het
Oca2	C	A	7: 55,946,885 (GRCm39)	Q305K	probably benign	Het
Or56b34	C	T	7: 104,937,710 (GRCm39)	Q137*	probably null	Het
Or5k3	T	A	16: 58,969,248 (GRCm39)	F12I	probably damaging	Het
Or7g27	G	A	9: 19,250,574 (GRCm39)	V273I	probably benign	Het
P2rx7	A	T	5: 122,782,158 (GRCm39)	N8Y	possibly damaging	Het
Pag1	A	T	3: 9,764,545 (GRCm39)	S203T	probably damaging	Het
Pfn4	T	A	12: 4,825,439 (GRCm39)		probably null	Het
Pip4k2c	T	C	10: 127,034,958 (GRCm39)	D414G	probably damaging	Het
Pkp1	T	G	1: 135,812,714 (GRCm39)	Q329P	possibly damaging	Het
Polrmt	A	T	10: 79,579,346 (GRCm39)	I135N	probably benign	Het
Ppa2	G	A	3: 133,076,178 (GRCm39)	R269H	probably benign	Het
Ppp3cb	T	C	14: 20,558,746 (GRCm39)	T439A	possibly damaging	Het
Prkdc	A	G	16: 15,533,827 (GRCm39)	Y1555C	probably damaging	Het
Ptprh	T	C	7: 4,553,774 (GRCm39)	D859G	probably damaging	Het
Sema5a	T	A	15: 32,619,002 (GRCm39)	M510K	probably benign	Het
Slc22a16	A	G	10: 40,461,335 (GRCm39)	E379G	probably benign	Het
Slc30a5	C	A	13: 100,943,041 (GRCm39)		probably null	Het
Syce1	C	A	7: 140,359,809 (GRCm39)	L83F	probably damaging	Het
Tbc1d9	A	T	8: 83,997,616 (GRCm39)	S1058C	probably damaging	Het
Tet2	A	G	3: 133,191,488 (GRCm39)	L982P	possibly damaging	Het
Tmem101	G	T	11: 102,044,203 (GRCm39)	T228K	probably benign	Het
Tshz2	G	T	2: 169,728,135 (GRCm39)	K441N	probably damaging	Het
Upf1	A	T	8: 70,794,222 (GRCm39)	I228N	probably damaging	Het
Usp32	A	T	11: 84,921,338 (GRCm39)	I692N	probably damaging	Het
Vmn2r117	A	G	17: 23,679,230 (GRCm39)	S665P	possibly damaging	Het
Vps13b	T	C	15: 35,910,892 (GRCm39)	V3552A	possibly damaging	Het
Vps35	A	T	8: 85,990,094 (GRCm39)	M638K	possibly damaging	Het
Vps41	T	G	13: 19,036,521 (GRCm39)	I645S	probably benign	Het
Zfp703	T	C	8: 27,469,016 (GRCm39)	S227P	probably benign	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
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
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'- AGTTTGTGCCCAGACAAACG -3'
(R):5'- TCGTCCTAAGCTGATGATGTC -3'

Sequencing Primer
(F):5'- AGACAAACGTGGCTTCTGTC -3'
(R):5'- GTCCTAAGCTGATGATGTCCAGAATG -3'

Posted On

2014-09-18