Mutagenetix > Incidental Mutation

Incidental Mutation 'R4624:Hfe'

346440

Institutional Source

Beutler Lab

Gene Symbol

Hfe

Ensembl Gene

ENSMUSG00000006611

Gene Name

homeostatic iron regulator

Synonyms

MR2

MMRRC Submission

041889-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R4624 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23886017-23894837 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 23890061 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 149 (C149*)

Ref Sequence

ENSEMBL: ENSMUSP00000089299 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006787] [ENSMUST00000091706] [ENSMUST00000091707]

AlphaFold

P70387

Predicted Effect

probably null
Transcript: ENSMUST00000006787
AA Change: C49*

SMART Domains

Protein: ENSMUSP00000006787
Gene: ENSMUSG00000006611
AA Change: C49*

Domain	Start	End	E-Value	Type
IGc1	44	116	1.03e-14	SMART
transmembrane domain	130	152	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000091706
AA Change: C237*

SMART Domains

Protein: ENSMUSP00000089298
Gene: ENSMUSG00000006611
AA Change: C237*

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:MHC_I	30	214	4e-46	PFAM
Pfam:MHC_I_3	53	212	7.4e-12	PFAM
IGc1	232	304	1.03e-14	SMART
transmembrane domain	318	340	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000091707
AA Change: C149*

SMART Domains

Protein: ENSMUSP00000089299
Gene: ENSMUSG00000006611
AA Change: C149*

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:MHC_I	34	126	7.3e-24	PFAM
IGc1	144	216	1.03e-14	SMART
transmembrane domain	230	252	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000151243

Meta Mutation Damage Score

0.9753

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

93% (85/91)

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 a membrane protein that is similar to MHC class I-type proteins and associates with beta2-microglobulin (beta2M). It is thought that this protein functions to regulate iron absorption by regulating the interaction of the transferrin receptor with transferrin. The iron storage disorder, hereditary haemochromatosis, is a recessive genetic disorder that results from defects in this gene. At least nine alternatively spliced variants have been described for this gene. Additional variants have been found but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutation of this gene affects iron metabolism. Homozygotes for targeted null mutations exhibit increased intestinal iron absorption and an elevated hepatic iron load but reduced duodenal iron stores. Heterozygotes also accumulate more iron than normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730409E04Rik	A	G	4: 126,505,873 (GRCm39)	T134A	possibly damaging	Het
Adamts18	C	T	8: 114,499,800 (GRCm39)	W371*	probably null	Het
Adgb	C	A	10: 10,278,748 (GRCm39)	V267L	probably benign	Het
Akr1c13	G	T	13: 4,247,869 (GRCm39)	V214F	probably damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Ankrd52	A	G	10: 128,225,128 (GRCm39)	H863R	probably damaging	Het
Ap3b1	A	G	13: 94,619,734 (GRCm39)	R766G	unknown	Het
Apol7c	A	G	15: 77,410,595 (GRCm39)	F117S	probably damaging	Het
Bcr	A	T	10: 74,989,752 (GRCm39)	E716V	probably damaging	Het
Borcs6	T	C	11: 68,951,423 (GRCm39)	L267P	probably damaging	Het
Ccdc184	A	T	15: 98,066,638 (GRCm39)	N148Y	probably benign	Het
Ccdc50	A	G	16: 27,255,351 (GRCm39)	K223R	probably null	Het
Cd2	T	G	3: 101,194,747 (GRCm39)	K114Q	probably benign	Het
Cdh19	T	C	1: 110,859,981 (GRCm39)	K167E	probably benign	Het
Cep131	T	C	11: 119,961,658 (GRCm39)	E558G	probably damaging	Het
Cmya5	A	T	13: 93,200,059 (GRCm39)	V3423E	probably damaging	Het
Cnot6l	A	G	5: 96,225,070 (GRCm39)	V541A	probably benign	Het
Cntn5	A	T	9: 9,704,809 (GRCm39)	C663*	probably null	Het
Dnaaf4	A	G	9: 72,871,453 (GRCm39)	I238V	probably benign	Het
Dnah12	T	C	14: 26,456,913 (GRCm39)	I893T	possibly damaging	Het
Dop1a	G	A	9: 86,403,578 (GRCm39)	V129M	probably damaging	Het
Exoc6b	A	G	6: 84,831,791 (GRCm39)		probably benign	Het
Ext2	A	G	2: 93,533,545 (GRCm39)	V671A	probably benign	Het
Fcamr	T	G	1: 130,730,999 (GRCm39)	L28R	probably damaging	Het
Fer1l6	T	C	15: 58,425,554 (GRCm39)	I144T	probably damaging	Het
Frem1	A	G	4: 82,907,343 (GRCm39)	L839P	probably damaging	Het
Fscn2	A	T	11: 120,258,169 (GRCm39)	I364F	probably benign	Het
Gm10291	T	C	3: 78,824,581 (GRCm39)		noncoding transcript	Het
Gm29125	T	C	1: 80,362,676 (GRCm39)		noncoding transcript	Het
Grin2b	T	C	6: 135,710,823 (GRCm39)	M908V	probably damaging	Het
Helz2	T	C	2: 180,881,101 (GRCm39)	E436G	probably damaging	Het
Hs1bp3	T	C	12: 8,386,357 (GRCm39)	V253A	probably benign	Het
Kat14	A	G	2: 144,246,140 (GRCm39)		probably benign	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Kcnh3	T	A	15: 99,124,253 (GRCm39)	D47E	probably damaging	Het
Kcp	A	G	6: 29,482,813 (GRCm39)	F1419L	possibly damaging	Het
Kera	A	G	10: 97,445,493 (GRCm39)	N284S	probably benign	Het
Klhl24	A	G	16: 19,938,873 (GRCm39)	D476G	probably damaging	Het
Krt79	T	A	15: 101,848,241 (GRCm39)	T137S	possibly damaging	Het
Lilrb4a	A	G	10: 51,367,584 (GRCm39)	Y42C	probably damaging	Het
Lnx1	C	T	5: 74,821,121 (GRCm39)		probably benign	Het
Map3k14	A	G	11: 103,121,927 (GRCm39)	Y497H	probably damaging	Het
Mmut	G	A	17: 41,257,946 (GRCm39)	E371K	probably damaging	Het
Nkx2-6	A	G	14: 69,412,375 (GRCm39)	Q181R	probably damaging	Het
Notch1	T	C	2: 26,368,093 (GRCm39)	K631R	possibly damaging	Het
Or5an10	C	T	19: 12,276,347 (GRCm39)	V50I	probably benign	Het
Pcdh9	T	A	14: 94,123,845 (GRCm39)	N775I	probably damaging	Het
Phkb	T	A	8: 86,575,341 (GRCm39)		probably benign	Het
Pick1	T	A	15: 79,130,666 (GRCm39)	I250N	probably damaging	Het
Plec	T	C	15: 76,059,335 (GRCm39)	E3556G	probably damaging	Het
Prex2	C	T	1: 11,359,489 (GRCm39)	Q1566*	probably null	Het
Ptgr2	T	G	12: 84,355,128 (GRCm39)	F287L	possibly damaging	Het
Ptprv	T	C	1: 135,051,869 (GRCm39)		noncoding transcript	Het
Rab5b	G	T	10: 128,519,130 (GRCm39)	H83Q	probably benign	Het
Ranbp6	A	T	19: 29,788,263 (GRCm39)	Y696*	probably null	Het
Rapgef3	G	T	15: 97,656,810 (GRCm39)	D318E	probably damaging	Het
Rmi1	A	G	13: 58,556,950 (GRCm39)	R400G	probably benign	Het
Rsrc1	T	C	3: 67,257,311 (GRCm39)	V241A	probably damaging	Het
Ryr2	A	T	13: 12,121,301 (GRCm39)	I11N	possibly damaging	Het
S100a11	T	C	3: 93,433,321 (GRCm39)	L55P	probably damaging	Het
Sec13	A	G	6: 113,706,652 (GRCm39)	S254P	probably benign	Het
Slc25a36	G	A	9: 96,961,178 (GRCm39)	T147I	probably damaging	Het
Spata31d1c	A	G	13: 65,184,411 (GRCm39)	E651G	probably benign	Het
Stox2	C	A	8: 47,646,851 (GRCm39)	R203L	probably damaging	Het
Tbc1d30	A	T	10: 121,132,691 (GRCm39)	D224E	probably damaging	Het
Tdrd6	A	G	17: 43,936,881 (GRCm39)	L1389P	probably damaging	Het
Tmprss11b	T	C	5: 86,812,895 (GRCm39)	S134G	probably benign	Het
Tmtc2	A	T	10: 105,139,511 (GRCm39)	S672T	probably benign	Het
Tnnt1	G	A	7: 4,515,267 (GRCm39)		probably benign	Het
Tpst2	A	G	5: 112,456,162 (GRCm39)	M234V	probably damaging	Het
Ttbk2	T	C	2: 120,603,804 (GRCm39)	D208G	probably benign	Het
Ube2c	A	G	2: 164,614,093 (GRCm39)	N143S	possibly damaging	Het
Unc45b	T	A	11: 82,816,835 (GRCm39)	M425K	probably benign	Het
Uvssa	G	A	5: 33,547,300 (GRCm39)	E289K	possibly damaging	Het
Vmn2r11	T	A	5: 109,200,101 (GRCm39)	R451W	probably damaging	Het
Vmn2r45	T	C	7: 8,484,341 (GRCm39)	Y488C	probably damaging	Het
Vmn2r55	T	A	7: 12,404,627 (GRCm39)	I259F	possibly damaging	Het
Wdfy3	C	T	5: 102,031,949 (GRCm39)	R2277Q	possibly damaging	Het
Wdr64	T	G	1: 175,599,829 (GRCm39)	M111R	probably benign	Het

Other mutations in Hfe

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00236:Hfe	APN	13	23,889,835 (GRCm39)	unclassified	probably benign
IGL01733:Hfe	APN	13	23,890,848 (GRCm39)	missense	possibly damaging	0.51
IGL02227:Hfe	APN	13	23,890,926 (GRCm39)	missense	probably benign	0.26
IGL02339:Hfe	APN	13	23,888,373 (GRCm39)	missense	probably damaging	0.98
R1669:Hfe	UTSW	13	23,890,110 (GRCm39)	nonsense	probably null
R1704:Hfe	UTSW	13	23,888,391 (GRCm39)	missense	probably damaging	1.00
R4424:Hfe	UTSW	13	23,890,866 (GRCm39)	missense	probably benign	0.06
R4904:Hfe	UTSW	13	23,892,037 (GRCm39)	missense	probably damaging	1.00
R5926:Hfe	UTSW	13	23,892,247 (GRCm39)	missense	probably damaging	0.99
R6246:Hfe	UTSW	13	23,892,212 (GRCm39)	missense	probably damaging	1.00
R6322:Hfe	UTSW	13	23,889,879 (GRCm39)	missense	probably damaging	1.00
R6636:Hfe	UTSW	13	23,890,779 (GRCm39)	missense	possibly damaging	0.88
R6636:Hfe	UTSW	13	23,890,778 (GRCm39)	missense	possibly damaging	0.53
R6637:Hfe	UTSW	13	23,890,779 (GRCm39)	missense	possibly damaging	0.88
R6637:Hfe	UTSW	13	23,890,778 (GRCm39)	missense	possibly damaging	0.53
R7167:Hfe	UTSW	13	23,892,052 (GRCm39)	missense	probably damaging	1.00
R7374:Hfe	UTSW	13	23,890,030 (GRCm39)	missense	probably damaging	0.99
R7816:Hfe	UTSW	13	23,888,382 (GRCm39)	missense	possibly damaging	0.53
R8188:Hfe	UTSW	13	23,892,175 (GRCm39)	missense	probably damaging	1.00
R8807:Hfe	UTSW	13	23,889,667 (GRCm39)	missense	probably benign	0.01
R9057:Hfe	UTSW	13	23,889,658 (GRCm39)	missense	possibly damaging	0.88
R9293:Hfe	UTSW	13	23,890,792 (GRCm39)	missense	probably benign	0.04
R9302:Hfe	UTSW	13	23,890,025 (GRCm39)	missense	probably benign	0.02
R9352:Hfe	UTSW	13	23,890,119 (GRCm39)	missense	probably benign	0.00
Z1177:Hfe	UTSW	13	23,890,020 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGTGAACCTTGTCTCGTCC -3'
(R):5'- CAGGATATCAAATGGCATCTCTG -3'

Sequencing Primer
(F):5'- GAACCTTGTCTCGTCCCCAGG -3'
(R):5'- TGTGTGTGTGTGTGTGTGTG -3'

Posted On

2015-09-25