Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02227:Hfe'

285611

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hfe

Ensembl Gene

ENSMUSG00000006611

Gene Name

homeostatic iron regulator

Synonyms

MR2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

IGL02227

Quality Score

Status

Chromosome

Chromosomal Location

23886017-23894837 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 23890926 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 71 (E71G)

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: E159G

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000089298
Gene: ENSMUSG00000006611
AA Change: E159G

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: E71G

PolyPhen 2 Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000089299
Gene: ENSMUSG00000006611
AA Change: E71G

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

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 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
Acsl1	A	G	8: 46,987,402 (GRCm39)	E662G	probably benign	Het
Acss3	A	G	10: 106,881,196 (GRCm39)	S262P	probably benign	Het
Agap1	T	C	1: 89,591,497 (GRCm39)	V263A	probably damaging	Het
Ap3b2	A	G	7: 81,123,152 (GRCm39)	L454P	probably damaging	Het
Arrdc1	A	T	2: 24,816,164 (GRCm39)	F280I	possibly damaging	Het
Atp8b1	G	T	18: 64,695,261 (GRCm39)	H485N	probably benign	Het
Atrip	A	G	9: 108,890,732 (GRCm39)	S91P	possibly damaging	Het
Bcorl1	T	C	X: 47,458,237 (GRCm39)	V590A	probably benign	Het
Brf1	C	A	12: 112,925,394 (GRCm39)	R590S	probably damaging	Het
Ccdc18	A	T	5: 108,296,788 (GRCm39)	D197V	possibly damaging	Het
Ccr6	T	C	17: 8,475,284 (GRCm39)	V163A	probably damaging	Het
Cct6b	T	C	11: 82,632,217 (GRCm39)	E257G	probably damaging	Het
Cdc42bpa	A	G	1: 179,921,989 (GRCm39)	D564G	possibly damaging	Het
Cdh2	C	T	18: 16,762,643 (GRCm39)	V434I	probably benign	Het
Cfap410	A	G	10: 77,818,784 (GRCm39)	N152D	possibly damaging	Het
Cltc	C	T	11: 86,588,166 (GRCm39)	V1610M	possibly damaging	Het
Cnot4	A	G	6: 35,028,198 (GRCm39)	F473L	probably benign	Het
Dock3	T	C	9: 106,939,254 (GRCm39)	K165E	probably damaging	Het
Duox2	A	T	2: 122,115,634 (GRCm39)		probably benign	Het
Epha7	A	G	4: 28,821,587 (GRCm39)	S251G	possibly damaging	Het
Epn1	T	A	7: 5,098,035 (GRCm39)	V282E	probably benign	Het
Fat1	T	C	8: 45,476,696 (GRCm39)	L1914P	probably damaging	Het
Fbln2	T	C	6: 91,233,349 (GRCm39)	I611T	possibly damaging	Het
Fgd6	G	T	10: 93,969,946 (GRCm39)	M1198I	probably damaging	Het
Frmpd4	T	A	X: 166,275,931 (GRCm39)	I379F	probably damaging	Het
Grk4	T	A	5: 34,852,126 (GRCm39)	D123E	probably benign	Het
Hc	T	G	2: 34,899,923 (GRCm39)		probably benign	Het
Hephl1	T	C	9: 14,981,089 (GRCm39)	Y781C	probably damaging	Het
Hk1	A	G	10: 62,116,919 (GRCm39)		probably benign	Het
Ifnk	G	A	4: 35,152,642 (GRCm39)		probably benign	Het
Kcnv1	C	A	15: 44,977,670 (GRCm39)	G123C	probably damaging	Het
Klhl38	A	T	15: 58,186,633 (GRCm39)	I32N	possibly damaging	Het
Lpl	T	C	8: 69,348,452 (GRCm39)	V227A	probably damaging	Het
Lurap1l	A	T	4: 80,872,094 (GRCm39)	S196C	probably damaging	Het
Mta1	T	C	12: 113,084,528 (GRCm39)	L91P	possibly damaging	Het
Nelfe	C	A	17: 35,073,330 (GRCm39)	D288E	probably benign	Het
Or5p1	T	A	7: 107,916,408 (GRCm39)	C102*	probably null	Het
Otof	T	C	5: 30,528,128 (GRCm39)	E1905G	probably damaging	Het
Pck2	T	C	14: 55,781,323 (GRCm39)	I148T	probably benign	Het
Plcl2	G	T	17: 50,913,425 (GRCm39)	V145F	probably damaging	Het
Plec	A	G	15: 76,056,474 (GRCm39)	S4510P	probably damaging	Het
Plxna2	A	G	1: 194,434,397 (GRCm39)	E641G	probably damaging	Het
Poglut3	T	C	9: 53,299,779 (GRCm39)	L96S	probably damaging	Het
Ppp1r12a	C	T	10: 108,105,185 (GRCm39)	T434M	probably damaging	Het
Ppp6r3	A	T	19: 3,568,245 (GRCm39)	N184K	possibly damaging	Het
Prkar1a	G	A	11: 109,551,001 (GRCm39)		probably benign	Het
Psmb1	A	T	17: 15,710,546 (GRCm39)	M1K	probably null	Het
Pwwp2a	T	C	11: 43,596,448 (GRCm39)	S538P	possibly damaging	Het
Rbm25	C	T	12: 83,719,527 (GRCm39)	R516W	probably damaging	Het
Rnf103	A	G	6: 71,487,172 (GRCm39)	D601G	probably benign	Het
Senp3	A	G	11: 69,565,356 (GRCm39)	V467A	possibly damaging	Het
Slc8a3	T	G	12: 81,362,457 (GRCm39)	T121P	probably damaging	Het
Slco1a8	A	T	6: 141,939,401 (GRCm39)	C197*	probably null	Het
Srrt	G	A	5: 137,294,536 (GRCm39)	T790M	probably damaging	Het
Ssc5d	T	C	7: 4,936,453 (GRCm39)		probably null	Het
Tas2r129	G	A	6: 132,928,357 (GRCm39)	W98*	probably null	Het
Thoc5	A	C	11: 4,876,217 (GRCm39)	M609L	probably benign	Het
Tnip1	G	A	11: 54,827,297 (GRCm39)	T155M	possibly damaging	Het
Ttn	A	G	2: 76,618,672 (GRCm39)	V14458A	probably benign	Het
Unc5cl	A	G	17: 48,766,809 (GRCm39)	E61G	probably benign	Het
Usp32	T	C	11: 84,877,307 (GRCm39)	K151E	probably damaging	Het
Vmn2r121	T	C	X: 123,042,378 (GRCm39)	M260V	probably benign	Het
Vwa7	G	T	17: 35,239,060 (GRCm39)	R345L	probably damaging	Het
Zfp366	G	T	13: 99,370,696 (GRCm39)	R472L	possibly damaging	Het
Zfp811	A	T	17: 33,017,616 (GRCm39)	Y141*	probably null	Het
Zpbp	C	T	11: 11,365,248 (GRCm39)	E200K	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
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
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

Posted On

2015-04-16