Mutagenetix > Incidental Mutation

Incidental Mutation 'R6365:Fech'

512668

Institutional Source

Beutler Lab

Gene Symbol

Fech

Ensembl Gene

ENSMUSG00000024588

Gene Name

ferrochelatase

Synonyms

Fcl, fch

MMRRC Submission

044515-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6365 (G1)

Quality Score

104.008

Status

Validated

Chromosome

Chromosomal Location

64589613-64622169 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 64591251 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 391 (N391S)

Ref Sequence

ENSEMBL: ENSMUSP00000025484 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025484]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000025484
AA Change: N391S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000025484
Gene: ENSMUSG00000024588
AA Change: N391S

Domain	Start	End	E-Value	Type
low complexity region	1	20	N/A	INTRINSIC
Pfam:Ferrochelatase	67	388	5.9e-115	PFAM

Meta Mutation Damage Score

0.0629

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 93.8%

Validation Efficiency

98% (57/58)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	G	T	5: 113,330,510 (GRCm39)	R1235S	probably benign	Het
Abca9	T	A	11: 110,036,481 (GRCm39)	I543F	possibly damaging	Het
Acot6	A	G	12: 84,156,186 (GRCm39)	E378G	probably benign	Het
Adam30	T	C	3: 98,068,350 (GRCm39)	L61S	probably damaging	Het
Agap3	T	A	5: 24,679,983 (GRCm39)	L227Q	probably benign	Het
Ap5m1	T	C	14: 49,316,285 (GRCm39)	I285T	probably benign	Het
Atp2a2	A	G	5: 122,599,979 (GRCm39)	Y497H	probably benign	Het
Bace1	C	T	9: 45,765,974 (GRCm39)	Q17*	probably null	Het
Calcr	T	C	6: 3,711,455 (GRCm39)	I189V	probably benign	Het
Cd48	A	T	1: 171,509,732 (GRCm39)	Q24L	probably null	Het
Cnga1	T	C	5: 72,762,288 (GRCm39)	I409V	probably benign	Het
Ctsd	G	A	7: 141,939,314 (GRCm39)	T37M	probably benign	Het
Cyp2c29	T	C	19: 39,296,198 (GRCm39)	S171P	probably damaging	Het
Dnaaf11	A	T	15: 66,325,983 (GRCm39)	S197R	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Drd2	A	T	9: 49,318,249 (GRCm39)	N397I	probably damaging	Het
Dst	A	G	1: 34,231,008 (GRCm39)	E3045G	probably damaging	Het
Dzip3	T	A	16: 48,751,636 (GRCm39)	R764S	probably damaging	Het
Efcab3	A	G	11: 104,815,412 (GRCm39)	E3247G	unknown	Het
Exosc10	T	C	4: 148,645,562 (GRCm39)	V114A	probably benign	Het
Fam234a	C	A	17: 26,439,429 (GRCm39)	E32*	probably null	Het
Fbxw11	C	A	11: 32,670,623 (GRCm39)	D162E	possibly damaging	Het
Fcho2	A	T	13: 98,926,367 (GRCm39)	M72K	probably benign	Het
Foxp2	T	C	6: 15,286,684 (GRCm39)	L58P	probably damaging	Het
Gdi2	A	G	13: 3,615,093 (GRCm39)	D430G	possibly damaging	Het
Grm8	C	T	6: 27,363,226 (GRCm39)	C763Y	probably damaging	Het
H2bc6	C	T	13: 23,769,641 (GRCm39)	R100H	probably benign	Het
Hibch	T	A	1: 52,908,096 (GRCm39)		probably null	Het
Ifi44l	C	T	3: 151,467,142 (GRCm39)	V63I	unknown	Het
Igf1r	G	T	7: 67,839,798 (GRCm39)	A702S	probably benign	Het
Kctd13	G	A	7: 126,529,862 (GRCm39)	R101Q	probably damaging	Het
Klhl33	T	C	14: 51,129,294 (GRCm39)	D645G	probably benign	Het
Mylk	A	G	16: 34,680,961 (GRCm39)	T74A	probably benign	Het
Myo1f	A	G	17: 33,805,090 (GRCm39)	S453G	probably benign	Het
Naxe	A	G	3: 87,965,298 (GRCm39)	V105A	probably damaging	Het
Nid2	A	G	14: 19,853,201 (GRCm39)	Y1140C	probably damaging	Het
Nlrp12	T	C	7: 3,288,518 (GRCm39)	T665A	probably benign	Het
Or51l4	T	A	7: 103,404,402 (GRCm39)	H130L	probably benign	Het
Otud7b	T	G	3: 96,062,567 (GRCm39)	I602S	probably benign	Het
Pakap	G	T	4: 57,709,675 (GRCm39)	G207*	probably null	Het
Papolg	T	C	11: 23,832,290 (GRCm39)	D166G	probably damaging	Het
Pbx4	T	G	8: 70,324,857 (GRCm39)		probably null	Het
Pdcd4	T	C	19: 53,910,564 (GRCm39)		probably null	Het
Pde2a	C	T	7: 101,159,570 (GRCm39)	T800I	probably damaging	Het
Polk	A	T	13: 96,620,517 (GRCm39)	V582E	probably damaging	Het
Prss40	A	G	1: 34,591,598 (GRCm39)		probably benign	Het
Robo4	G	T	9: 37,322,008 (GRCm39)	R597L	probably benign	Het
Scg2	T	A	1: 79,413,017 (GRCm39)	I529F	probably benign	Het
Sema7a	T	C	9: 57,862,188 (GRCm39)	F180L	probably benign	Het
Sowahc	T	C	10: 59,059,349 (GRCm39)	L495P	probably damaging	Het
Trf	A	G	9: 103,099,327 (GRCm39)	V324A	possibly damaging	Het
Uox	C	T	3: 146,330,332 (GRCm39)	R163*	probably null	Het
Vip	C	T	10: 5,594,021 (GRCm39)	R125*	probably null	Het
Vmn1r159	T	A	7: 22,542,826 (GRCm39)	T69S	probably damaging	Het
Vmn1r202	A	T	13: 22,686,374 (GRCm39)	F14L	probably benign	Het
Vmn1r53	T	C	6: 90,201,241 (GRCm39)	N28D	probably damaging	Het
Vmn2r58	T	A	7: 41,513,607 (GRCm39)	K345N	probably benign	Het
Zbtb17	G	A	4: 141,190,694 (GRCm39)	G171S	probably benign	Het
Zbtb8os	A	T	4: 129,236,945 (GRCm39)	N120I	possibly damaging	Het
Zfp959	T	A	17: 56,204,785 (GRCm39)	L274H	probably damaging	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
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'- CGTCCTAAGCTGATGATGTCCAG -3'

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

Posted On

2018-04-27