Mutagenetix > Incidental Mutation

Incidental Mutation 'R4424:Hfe'

327279

Institutional Source

Beutler Lab

Gene Symbol

Hfe

Ensembl Gene

ENSMUSG00000006611

Gene Name

homeostatic iron regulator

Synonyms

MR2

MMRRC Submission

041696-MU

Accession Numbers

Essential gene?

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

Stock #

R4424 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23886017-23894837 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 23890866 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 91 (V91E)

Ref Sequence

ENSEMBL: ENSMUSP00000089299 (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 benign
Transcript: ENSMUST00000091706
AA Change: V179E

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000089298
Gene: ENSMUSG00000006611
AA Change: V179E

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
AA Change: V91E

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000089299
Gene: ENSMUSG00000006611
AA Change: V91E

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

95% (69/73)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	A	T	2: 68,445,491 (GRCm39)		probably benign	Het
Aimp1	A	T	3: 132,373,253 (GRCm39)	L229Q	probably benign	Het
Ankrd16	T	A	2: 11,789,215 (GRCm39)	D267E	possibly damaging	Het
Apol11b	A	G	15: 77,522,133 (GRCm39)		probably null	Het
Arfgap1	C	A	2: 180,622,869 (GRCm39)	D327E	probably benign	Het
Arid3b	A	T	9: 57,741,151 (GRCm39)	D98E	probably benign	Het
Art2b	T	A	7: 101,229,129 (GRCm39)	I257F	probably benign	Het
Atp5f1a	T	A	18: 77,867,766 (GRCm39)		probably benign	Het
Carmil3	A	G	14: 55,738,928 (GRCm39)	T861A	probably benign	Het
Cep164	A	T	9: 45,691,002 (GRCm39)	F1259L	possibly damaging	Het
Cfap91	G	T	16: 38,140,727 (GRCm39)	P409T	probably damaging	Het
Chrnd	T	C	1: 87,123,512 (GRCm39)	V350A	probably benign	Het
Clcn7	T	C	17: 25,379,150 (GRCm39)	L744P	probably damaging	Het
Csl	T	A	10: 99,594,453 (GRCm39)	D204V	possibly damaging	Het
Cstdc3	A	G	16: 36,132,951 (GRCm39)	D76G	probably null	Het
Cyp2c29	G	T	19: 39,275,620 (GRCm39)	W20L	probably damaging	Het
Dhrs13	G	T	11: 77,927,951 (GRCm39)	G266*	probably null	Het
Dll3	T	C	7: 27,995,716 (GRCm39)	N362D	probably damaging	Het
Efcab3	T	G	11: 104,626,940 (GRCm39)		probably null	Het
Fanca	A	G	8: 124,015,532 (GRCm39)	V715A	probably benign	Het
Fhod1	T	C	8: 106,063,983 (GRCm39)		probably benign	Het
Fpr2	C	T	17: 18,113,394 (GRCm39)	P130L	probably damaging	Het
Glce	A	G	9: 61,967,535 (GRCm39)	Y539H	probably damaging	Het
Hoxd13	A	T	2: 74,500,301 (GRCm39)	K281*	probably null	Het
Ighv1-66	A	T	12: 115,557,157 (GRCm39)	W3R	probably damaging	Het
Impg2	G	A	16: 56,080,388 (GRCm39)	V622I	possibly damaging	Het
Jun	A	G	4: 94,939,084 (GRCm39)	M142T	probably benign	Het
Krt78	T	C	15: 101,856,375 (GRCm39)	T479A	probably benign	Het
Lama3	T	A	18: 12,652,929 (GRCm39)	C216*	probably null	Het
Lin54	G	T	5: 100,594,419 (GRCm39)	T582K	probably damaging	Het
Mapk11	A	G	15: 89,029,576 (GRCm39)		probably null	Het
Mindy3	A	G	2: 12,353,010 (GRCm39)	M397T	probably benign	Het
Mrpl41	T	C	2: 24,864,418 (GRCm39)	T85A	possibly damaging	Het
Msh6	T	A	17: 88,298,217 (GRCm39)	L1354*	probably null	Het
Mtmr12	T	C	15: 12,230,400 (GRCm39)	V41A	probably damaging	Het
Myh2	A	T	11: 67,083,551 (GRCm39)	Q1478L	probably benign	Het
Myo6	A	G	9: 80,195,320 (GRCm39)	K897E	probably benign	Het
Naprt	G	T	15: 75,764,605 (GRCm39)		probably null	Het
Nrl	G	A	14: 55,759,675 (GRCm39)	S84L	probably benign	Het
Nxf1	A	G	19: 8,744,128 (GRCm39)		probably benign	Het
Or8g2b	A	T	9: 39,751,652 (GRCm39)	R307S	possibly damaging	Het
Panx2	G	T	15: 88,952,423 (GRCm39)	V305F	probably benign	Het
Pcdhga1	T	C	18: 37,795,632 (GRCm39)	L212P	probably damaging	Het
Pik3ap1	G	A	19: 41,364,320 (GRCm39)	T133I	probably benign	Het
Ppat	A	G	5: 77,063,061 (GRCm39)	W517R	probably damaging	Het
Ppp1r16b	C	T	2: 158,599,174 (GRCm39)	T382I	probably benign	Het
Prkdc	G	A	16: 15,653,946 (GRCm39)	R3901H	probably damaging	Het
Prkdc	A	G	16: 15,591,603 (GRCm39)	K2694E	probably damaging	Het
Psma8	A	G	18: 14,854,247 (GRCm39)	I42M	probably damaging	Het
Ptprd	A	T	4: 76,021,200 (GRCm39)	M599K	probably benign	Het
Rnmt	A	G	18: 68,444,742 (GRCm39)	D237G	probably null	Het
Rpl31-ps17	C	T	12: 54,748,397 (GRCm39)		noncoding transcript	Het
Scaf11	G	A	15: 96,316,309 (GRCm39)	T1085I	possibly damaging	Het
Sec14l3	G	A	11: 4,016,210 (GRCm39)	R43Q	probably damaging	Het
Shc4	G	T	2: 125,494,442 (GRCm39)	T131K	probably benign	Het
Snx27	A	G	3: 94,469,330 (GRCm39)	F4L	probably benign	Het
Sorcs1	T	C	19: 50,367,379 (GRCm39)	T228A	probably damaging	Het
Spmap2l	T	C	5: 77,202,383 (GRCm39)	I268T	possibly damaging	Het
Sptan1	C	T	2: 29,919,721 (GRCm39)		probably benign	Het
Syvn1	C	T	19: 6,099,951 (GRCm39)		probably benign	Het
Tex47	G	T	5: 7,355,364 (GRCm39)	A182S	probably benign	Het
Tpcn1	T	C	5: 120,680,583 (GRCm39)	K549R	probably damaging	Het
Upf3a	C	A	8: 13,846,573 (GRCm39)	P318T	probably benign	Het
Zbtb40	A	T	4: 136,726,005 (GRCm39)	M518K	probably damaging	Het
Zcchc14	G	A	8: 122,378,680 (GRCm39)		probably benign	Het
Zfp687	G	A	3: 94,916,439 (GRCm39)	P861L	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
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
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'- GTCAGGCCACTAACATTTCCC -3'
(R):5'- TTCCAGTCACGAAGTTGGGAG -3'

Sequencing Primer
(F):5'- CATAGTGAGATCTAGACCAGCCTTG -3'
(R):5'- GTGGTGTCCGAGTCCCACATC -3'

Posted On

2015-07-07