Mutagenetix > Incidental Mutation

Incidental Mutation 'R4904:Hfe'

378057

Institutional Source

Beutler Lab

Gene Symbol

Hfe

Ensembl Gene

ENSMUSG00000006611

Gene Name

homeostatic iron regulator

Synonyms

MR2

MMRRC Submission

042507-MU

Accession Numbers

Essential gene?

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

Stock #

R4904 (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 23892037 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 109 (I109N)

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: I109N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000089298
Gene: ENSMUSG00000006611
AA Change: I109N

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

Meta Mutation Damage Score

0.7978

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.1%

Validation Efficiency

94% (82/87)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb2	T	G	4: 129,906,332 (GRCm39)	I920S	possibly damaging	Het
Afap1l1	A	G	18: 61,871,786 (GRCm39)	I556T	probably benign	Het
Ankfy1	C	A	11: 72,642,931 (GRCm39)	H665N	probably benign	Het
Aqp9	A	C	9: 71,069,685 (GRCm39)		probably benign	Het
Arhgap21	A	G	2: 20,854,872 (GRCm39)	S1497P	probably benign	Het
Armc7	A	G	11: 115,379,800 (GRCm39)	D166G	probably damaging	Het
Arrdc1	C	A	2: 24,816,676 (GRCm39)	V167F	possibly damaging	Het
Col6a3	A	T	1: 90,729,164 (GRCm39)	I1259N	probably damaging	Het
Coq8a	C	T	1: 180,006,168 (GRCm39)	R207Q	probably damaging	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Dcbld1	C	T	10: 52,196,066 (GRCm39)	Q425*	probably null	Het
Def8	A	G	8: 124,188,219 (GRCm39)	N445D	probably damaging	Het
Dicer1	C	T	12: 104,679,325 (GRCm39)	V551I	probably benign	Het
Dst	A	T	1: 34,208,879 (GRCm39)	T800S	probably damaging	Het
Dtl	A	T	1: 191,300,457 (GRCm39)	C136S	probably damaging	Het
Duox1	T	A	2: 122,151,345 (GRCm39)	Y310N	probably damaging	Het
Duxf1	T	A	10: 58,059,309 (GRCm39)	R482*	probably null	Het
Ebf1	T	C	11: 44,759,996 (GRCm39)	F211S	probably damaging	Het
Gm44501	A	T	17: 40,889,884 (GRCm39)	I133F	possibly damaging	Het
Gm6625	T	C	8: 89,873,379 (GRCm39)		noncoding transcript	Het
Golgb1	A	T	16: 36,713,748 (GRCm39)	D243V	probably damaging	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Gtf2a1l	G	A	17: 88,997,471 (GRCm39)		probably null	Het
Herc2	T	C	7: 55,807,234 (GRCm39)	F2471L	probably damaging	Het
Hrg	A	G	16: 22,770,000 (GRCm39)	E43G	probably benign	Het
Hspa1a	T	C	17: 35,189,427 (GRCm39)	D492G	probably damaging	Het
Itgb8	T	C	12: 119,134,606 (GRCm39)	D487G	probably benign	Het
Jag1	A	G	2: 136,929,062 (GRCm39)	V798A	probably damaging	Het
Kcnq5	A	G	1: 21,494,324 (GRCm39)	V501A	probably damaging	Het
Kntc1	T	C	5: 123,916,396 (GRCm39)	V743A	possibly damaging	Het
Ly86	G	T	13: 37,599,496 (GRCm39)	V126F	possibly damaging	Het
Med26	A	T	8: 73,250,691 (GRCm39)	L136H	probably damaging	Het
Mpp3	T	C	11: 101,891,413 (GRCm39)	D575G	probably benign	Het
Myoc	G	A	1: 162,466,994 (GRCm39)	M54I	probably benign	Het
Nlrp1c-ps	A	G	11: 71,133,454 (GRCm39)		noncoding transcript	Het
Or10v9	C	T	19: 11,833,231 (GRCm39)	V29M	possibly damaging	Het
Or51t4	A	G	7: 102,598,272 (GRCm39)	Y190C	probably damaging	Het
Or5v1b	A	G	17: 37,841,522 (GRCm39)	Y218C	probably damaging	Het
Pak5	A	T	2: 135,925,267 (GRCm39)	D678E	probably benign	Het
Pcdhb12	T	C	18: 37,570,909 (GRCm39)	V685A	possibly damaging	Het
Pcdhga2	A	G	18: 37,802,932 (GRCm39)	T259A	possibly damaging	Het
Pde6a	A	T	18: 61,398,105 (GRCm39)	M702L	probably benign	Het
Pigq	A	G	17: 26,150,034 (GRCm39)		probably benign	Het
Polrmt	A	G	10: 79,582,385 (GRCm39)	M1T	probably null	Het
Ptch1	A	C	13: 63,670,818 (GRCm39)	I904S	probably damaging	Het
Rflnb	A	T	11: 75,912,964 (GRCm39)	C141*	probably null	Het
Rilpl1	C	A	5: 124,652,807 (GRCm39)		probably null	Het
Rpgrip1	T	C	14: 52,358,544 (GRCm39)	S217P	possibly damaging	Het
Rpgrip1	A	T	14: 52,397,586 (GRCm39)	I1292F	probably damaging	Het
Sema3a	A	C	5: 13,631,066 (GRCm39)	Y534S	probably damaging	Het
Sez6	A	G	11: 77,866,080 (GRCm39)	Y736C	probably damaging	Het
Shank1	G	T	7: 43,983,464 (GRCm39)		probably benign	Het
Slc45a4	G	A	15: 73,458,691 (GRCm39)	S294F	probably benign	Het
Slc9a8	A	G	2: 167,313,316 (GRCm39)	I393V	possibly damaging	Het
Sod1	T	A	16: 90,019,732 (GRCm39)	F46Y	probably damaging	Het
Sult1b1	T	C	5: 87,682,912 (GRCm39)	D11G	probably benign	Het
Syn3	T	G	10: 86,302,950 (GRCm39)	K68N	possibly damaging	Het
Taar8c	C	T	10: 23,977,147 (GRCm39)	V222I	probably benign	Het
Tbx20	T	C	9: 24,670,129 (GRCm39)	K235E	probably damaging	Het
Tcaf3	C	A	6: 42,570,931 (GRCm39)	E274*	probably null	Het
Tll1	A	T	8: 64,523,233 (GRCm39)	M493K	probably benign	Het
Tmem236	T	A	2: 14,200,803 (GRCm39)	S123T	probably benign	Het
Trim33	T	C	3: 103,238,963 (GRCm39)	V647A	possibly damaging	Het
Tspear	T	A	10: 77,705,489 (GRCm39)	Y296N	possibly damaging	Het
Vps13d	T	C	4: 144,882,015 (GRCm39)	K1187E	probably damaging	Het
Xpot	C	T	10: 121,453,083 (GRCm39)	V52I	probably benign	Het
Zdhhc3	A	T	9: 122,929,452 (GRCm39)	V61E	probably damaging	Het
Zfp955a	A	T	17: 33,461,162 (GRCm39)	C323*	probably null	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
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'- GAGTAGGCCTAGGTTAGCAGAC -3'
(R):5'- AGATACCTCTTCATGGGTGCC -3'

Sequencing Primer
(F):5'- CCTAGGTTAGCAGACAGAGGC -3'
(R):5'- CTCTTCATGGGTGCCTCAGAG -3'

Posted On

2016-04-15