Mutagenetix > Incidental Mutation

Incidental Mutation 'R8188:Hfe'

634993

Institutional Source

Beutler Lab

Gene Symbol

Hfe

Ensembl Gene

ENSMUSG00000006611

Gene Name

homeostatic iron regulator

Synonyms

MR2

MMRRC Submission

067611-MU

Accession Numbers

Essential gene?

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

Stock #

R8188 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

23886017-23894837 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23892175 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 63 (V63A)

Ref Sequence

ENSEMBL: ENSMUSP00000089298 (fasta)

Gene Model

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

AlphaFold

P70387

Predicted Effect

probably benign
Transcript: ENSMUST00000006787

SMART Domains

Protein: ENSMUSP00000006787
Gene: ENSMUSG00000006611

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000091706
AA Change: V63A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000089298
Gene: ENSMUSG00000006611
AA Change: V63A

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 benign
Transcript: ENSMUST00000091707

SMART Domains

Protein: ENSMUSP00000089299
Gene: ENSMUSG00000006611

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (56/56)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aco1	C	G	4: 40,180,284 (GRCm39)	A395G	probably benign	Het
Adgrf5	G	A	17: 43,741,503 (GRCm39)	C380Y	probably damaging	Het
Astn2	T	C	4: 65,977,418 (GRCm39)	T422A	unknown	Het
Baz1b	G	T	5: 135,233,916 (GRCm39)	V148F	probably benign	Het
Bicd1	A	C	6: 149,451,854 (GRCm39)	S823R	probably damaging	Het
Bltp3b	C	T	10: 89,647,928 (GRCm39)	T1330M	possibly damaging	Het
Blvra	A	C	2: 126,937,047 (GRCm39)	S167R	probably damaging	Het
Camsap2	G	T	1: 136,225,132 (GRCm39)		probably null	Het
Card14	T	C	11: 119,228,623 (GRCm39)	S650P	probably damaging	Het
Ccdc121rt2	A	G	5: 112,597,993 (GRCm39)	D180G	possibly damaging	Het
Cdh2	A	G	18: 16,781,593 (GRCm39)	I166T	probably damaging	Het
Cdnf	T	C	2: 3,514,228 (GRCm39)	V22A	probably benign	Het
Cfhr4	T	A	1: 139,625,868 (GRCm39)	I869F	probably damaging	Het
Chd2	T	A	7: 73,079,504 (GRCm39)	K1799*	probably null	Het
Col20a1	G	A	2: 180,658,126 (GRCm39)		probably null	Het
Cyp4a31	T	C	4: 115,426,943 (GRCm39)	I182T	probably benign	Het
Dap3	A	T	3: 88,843,543 (GRCm39)	F25L	probably benign	Het
Dcc	T	A	18: 71,943,928 (GRCm39)	Y241F	probably benign	Het
Ddx46	A	G	13: 55,814,029 (GRCm39)	I662V	possibly damaging	Het
Dzip3	T	C	16: 48,772,499 (GRCm39)	D390G	probably damaging	Het
Eif1	A	G	11: 100,211,624 (GRCm39)	D55G	probably benign	Het
Exosc5	T	A	7: 25,358,790 (GRCm39)	S44T	probably damaging	Het
Fat2	A	G	11: 55,163,997 (GRCm39)	V3086A	probably damaging	Het
Fcamr	T	A	1: 130,730,665 (GRCm39)		probably null	Het
Gcg	T	C	2: 62,309,004 (GRCm39)	D50G	probably damaging	Het
Gm7298	A	G	6: 121,763,537 (GRCm39)		probably null	Het
Hoxd11	T	A	2: 74,514,298 (GRCm39)	I276N	probably damaging	Het
Htt	T	C	5: 34,919,287 (GRCm39)	S13P	probably benign	Het
Il12a	T	A	3: 68,598,872 (GRCm39)	C18S	unknown	Het
Itk	G	T	11: 46,222,776 (GRCm39)	Y564*	probably null	Het
Lrrc46	A	T	11: 96,931,705 (GRCm39)	L39Q	probably damaging	Het
Myom3	T	A	4: 135,507,231 (GRCm39)	L537Q	probably damaging	Het
Nrap	A	C	19: 56,325,010 (GRCm39)	Y1234*	probably null	Het
Or51q1	T	C	7: 103,628,743 (GRCm39)	S121P	probably damaging	Het
Or8b9	A	T	9: 37,766,407 (GRCm39)	M98L	probably benign	Het
Parn	T	C	16: 13,359,020 (GRCm39)	D574G	probably benign	Het
Pbrm1	A	G	14: 30,789,773 (GRCm39)	I807V	probably damaging	Het
Pclo	T	A	5: 14,725,193 (GRCm39)	S1350R	unknown	Het
Pira13	T	C	7: 3,826,126 (GRCm39)	H289R	unknown	Het
Plaa	T	C	4: 94,474,586 (GRCm39)	Q272R	probably damaging	Het
Rfx6	T	A	10: 51,594,292 (GRCm39)	I174N	probably benign	Het
Ripk2	T	A	4: 16,139,218 (GRCm39)	K226N	probably damaging	Het
Scgb1b2	T	C	7: 30,990,946 (GRCm39)	D54G	possibly damaging	Het
Slc45a4	T	C	15: 73,456,383 (GRCm39)	Y599C	probably benign	Het
Slc7a13	T	C	4: 19,819,082 (GRCm39)	V94A	probably benign	Het
Slc7a8	A	G	14: 54,972,579 (GRCm39)	F281L	probably benign	Het
Slco4c1	T	A	1: 96,772,261 (GRCm39)	T243S	probably damaging	Het
Smim30	C	T	6: 13,870,541 (GRCm39)	G57E	probably damaging	Het
Stat5b	A	G	11: 100,692,262 (GRCm39)	I174T	probably damaging	Het
Styk1	C	A	6: 131,281,848 (GRCm39)	V257L	probably benign	Het
Tmem268	T	C	4: 63,498,209 (GRCm39)	F210L	probably damaging	Het
Ugt2b35	T	A	5: 87,149,302 (GRCm39)	S184R	probably damaging	Het
Vps50	T	A	6: 3,562,297 (GRCm39)	L464*	probably null	Het
Zfhx2	A	T	14: 55,301,898 (GRCm39)	S2029T	probably benign	Het
Zfp235	T	A	7: 23,841,296 (GRCm39)	F572I	probably damaging	Het
Zfp280d	T	C	9: 72,267,615 (GRCm39)	I766T	probably benign	Het
Zfr	T	G	15: 12,171,904 (GRCm39)	C933W	probably damaging	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
R4624:Hfe	UTSW	13	23,890,061 (GRCm39)	nonsense	probably null
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
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'- TCCACGTACCCTTACTGTGG -3'
(R):5'- AGAACTAACTGTGTCACTCCAC -3'

Sequencing Primer
(F):5'- ACGTACCCTTACTGTGGTTATAG -3'
(R):5'- TCTCTGGCAGCAGGAGGTAAC -3'

Posted On

2020-07-13