Mutagenetix > Incidental Mutation

Incidental Mutation 'R8493:Slc40a1'

658088

Institutional Source

Beutler Lab

Gene Symbol

Slc40a1

Ensembl Gene

ENSMUSG00000025993

Gene Name

solute carrier family 40 (iron-regulated transporter), member 1

Synonyms

ferroportin1, IREG1, MTP1, metal transporting protein 1, Pcm, Ol5, Slc11a3, Dusg, FPN1

MMRRC Submission

067935-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8493 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45947228-45965683 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 45950576 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 292 (F292Y)

Ref Sequence

ENSEMBL: ENSMUSP00000027137 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027137]

AlphaFold

Q9JHI9

Predicted Effect

probably damaging
Transcript: ENSMUST00000027137
AA Change: F292Y

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000027137
Gene: ENSMUSG00000025993
AA Change: F292Y

Domain	Start	End	E-Value	Type
Pfam:FPN1	22	530	5e-194	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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 cell membrane protein that may be involved in iron export from duodenal epithelial cells. Defects in this gene are a cause of hemochromatosis type 4 (HFE4). [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted mutation exhibit embryonic lethality before embryo turning. Mice heterozygous for a targeted mutation display decreased thermal response latency. Mice heterozygous for an ENU induced mutation display abnormal iron homeostasis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	A	T	16: 4,653,453 (GRCm39)	M1L	unknown	Het
Abca13	T	A	11: 9,460,668 (GRCm39)	I4226N	probably damaging	Het
Ankrd10	C	A	8: 11,678,518 (GRCm39)	E125*	probably null	Het
Apob	A	T	12: 8,059,009 (GRCm39)	D2497V	possibly damaging	Het
Arap1	G	A	7: 101,035,725 (GRCm39)	W87*	probably null	Het
Arhgef37	C	T	18: 61,640,277 (GRCm39)	V261I	probably benign	Het
Arl4a	A	C	12: 40,086,472 (GRCm39)	C92G	probably benign	Het
Arrdc2	C	T	8: 71,289,501 (GRCm39)		probably null	Het
Atg16l1	A	C	1: 87,706,704 (GRCm39)	T355P	probably damaging	Het
Card14	T	G	11: 119,224,435 (GRCm39)		probably null	Het
Cd109	G	A	9: 78,564,801 (GRCm39)	V249I	probably benign	Het
Cdhr4	A	G	9: 107,873,453 (GRCm39)	D395G	probably damaging	Het
Celsr1	C	A	15: 85,822,207 (GRCm39)	M1703I	possibly damaging	Het
Cfap157	A	G	2: 32,669,752 (GRCm39)	I277T	probably benign	Het
Chst4	A	G	8: 110,757,095 (GRCm39)	V173A	probably damaging	Het
Clca4b	T	C	3: 144,617,911 (GRCm39)	N731D	probably benign	Het
Col11a2	A	G	17: 34,278,936 (GRCm39)	E1122G	possibly damaging	Het
Csf1r	C	G	18: 61,247,954 (GRCm39)	P341A	probably damaging	Het
Dclk3	A	G	9: 111,297,215 (GRCm39)	E253G	probably benign	Het
Dnah2	T	A	11: 69,343,804 (GRCm39)	D2829V	probably damaging	Het
Dnah7a	T	C	1: 53,512,067 (GRCm39)	N2998S	probably damaging	Het
Ehbp1	C	T	11: 22,235,842 (GRCm39)		probably benign	Het
Eprs1	A	T	1: 185,139,371 (GRCm39)	K919*	probably null	Het
Esp16	A	T	17: 39,850,821 (GRCm39)	K67*	probably null	Het
Fam169a	G	T	13: 97,259,367 (GRCm39)	E474D	probably benign	Het
Fam83h	C	T	15: 75,874,502 (GRCm39)	R945H	probably benign	Het
Flnb	T	A	14: 7,869,822 (GRCm38)	V195E	probably damaging	Het
Gm3159	T	C	14: 4,398,567 (GRCm38)	I86T	probably damaging	Het
Gm4744	G	A	6: 40,926,281 (GRCm39)	S103F		Het
Gvin2	A	G	7: 105,548,088 (GRCm39)	S1655P	probably benign	Het
Ift122	T	A	6: 115,887,292 (GRCm39)	I713N	probably benign	Het
Ilkap	A	G	1: 91,306,266 (GRCm39)	I105T	probably damaging	Het
Isl1	G	T	13: 116,441,835 (GRCm39)	H133N	possibly damaging	Het
Jade1	T	A	3: 41,559,113 (GRCm39)	L398Q	possibly damaging	Het
Kcnh7	C	T	2: 62,681,003 (GRCm39)	V195M	probably benign	Het
Kif3a	A	T	11: 53,489,627 (GRCm39)	K669*	probably null	Het
L3mbtl4	G	A	17: 68,937,239 (GRCm39)	R420H	probably damaging	Het
Mrgprb1	A	T	7: 48,097,321 (GRCm39)	I197N	probably damaging	Het
Mthfd1	A	G	12: 76,340,929 (GRCm39)	T263A	probably damaging	Het
Mtmr7	G	A	8: 41,059,927 (GRCm39)	A62V	possibly damaging	Het
Naxe	A	G	3: 87,965,757 (GRCm39)		probably benign	Het
Ndufs2	T	C	1: 171,068,677 (GRCm39)	T51A	probably benign	Het
Nlrc5	T	A	8: 95,249,848 (GRCm39)	L1824Q	probably damaging	Het
Notch1	A	G	2: 26,362,251 (GRCm39)	V27A	unknown	Het
Nucks1	A	T	1: 131,857,473 (GRCm39)	M169L	probably benign	Het
Or10ag53	T	A	2: 87,083,215 (GRCm39)	D311E	probably benign	Het
Or13p4	C	T	4: 118,547,229 (GRCm39)	S140N	probably benign	Het
Or4a80	T	A	2: 89,582,599 (GRCm39)	Y191F	probably benign	Het
Or4k45	T	A	2: 111,395,324 (GRCm39)	H155L	probably damaging	Het
Or51aa2	A	T	7: 103,187,479 (GRCm39)	S321T	probably benign	Het
Or52n20	G	T	7: 104,320,022 (GRCm39)	V38L	probably benign	Het
Or5w10	T	A	2: 87,375,114 (GRCm39)	Y258F	probably damaging	Het
Pcnt	C	T	10: 76,239,457 (GRCm39)		probably null	Het
Pdcd7	T	C	9: 65,254,039 (GRCm39)	S206P	probably benign	Het
Pdia4	A	T	6: 47,773,575 (GRCm39)	Y591*	probably null	Het
Pgap6	G	T	17: 26,340,931 (GRCm39)	R678L	probably damaging	Het
Plxna4	C	T	6: 32,192,647 (GRCm39)	M771I	probably benign	Het
Pramel47	C	T	5: 95,488,092 (GRCm39)	H9Y	possibly damaging	Het
Ptpn13	A	G	5: 103,712,031 (GRCm39)	Y1643C	probably damaging	Het
Ptpn13	A	G	5: 103,717,671 (GRCm39)	I1906V	probably benign	Het
Rab33b	T	A	3: 51,391,795 (GRCm39)	S15T	probably benign	Het
Rasip1	A	T	7: 45,284,467 (GRCm39)	M644L	possibly damaging	Het
Rnf4	G	A	5: 34,506,035 (GRCm39)	C55Y	probably damaging	Het
Sel1l	A	T	12: 91,780,735 (GRCm39)	Y585*	probably null	Het
Smarca4	G	A	9: 21,570,144 (GRCm39)	D716N	probably damaging	Het
Sp7	T	A	15: 102,266,837 (GRCm39)	H323L	possibly damaging	Het
Speer1m	T	C	5: 11,971,489 (GRCm39)	L147P	probably damaging	Het
Sprtn	A	G	8: 125,629,933 (GRCm39)	S409G	probably benign	Het
St3gal2	T	G	8: 111,688,853 (GRCm39)	L131R	probably damaging	Het
Tctn1	A	G	5: 122,399,552 (GRCm39)	C91R	probably damaging	Het
Tgm1	A	T	14: 55,937,754 (GRCm39)	V785E	probably damaging	Het
Topaz1	G	T	9: 122,579,573 (GRCm39)	V828L	probably benign	Het
Triobp	C	T	15: 78,878,326 (GRCm39)	H1750Y	possibly damaging	Het
Ttc27	G	A	17: 75,050,047 (GRCm39)		probably null	Het
Usp2	G	A	9: 43,987,350 (GRCm39)	G216D	possibly damaging	Het
Vmn2r99	A	G	17: 19,614,020 (GRCm39)	D580G	probably benign	Het
Wbp1l	G	A	19: 46,640,988 (GRCm39)	R106H	possibly damaging	Het
Zmym2	G	T	14: 57,151,606 (GRCm39)	C497F	probably damaging	Het

Other mutations in Slc40a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01548:Slc40a1	APN	1	45,948,652 (GRCm39)	missense	probably benign	0.19
IGL01576:Slc40a1	APN	1	45,948,757 (GRCm39)	missense	probably damaging	1.00
IGL02113:Slc40a1	APN	1	45,950,054 (GRCm39)	missense	probably benign	0.33
IGL02116:Slc40a1	APN	1	45,950,688 (GRCm39)	missense	probably benign	0.01
IGL02220:Slc40a1	APN	1	45,950,495 (GRCm39)	missense	probably damaging	1.00
IGL02537:Slc40a1	APN	1	45,950,553 (GRCm39)	missense	probably benign	0.01
IGL02574:Slc40a1	APN	1	45,951,534 (GRCm39)	missense	possibly damaging	0.77
IGL02673:Slc40a1	APN	1	45,957,576 (GRCm39)	missense	possibly damaging	0.82
IGL02794:Slc40a1	APN	1	45,948,668 (GRCm39)	nonsense	probably null
R0376:Slc40a1	UTSW	1	45,951,651 (GRCm39)	splice site	probably benign
R0417:Slc40a1	UTSW	1	45,950,534 (GRCm39)	missense	possibly damaging	0.50
R1608:Slc40a1	UTSW	1	45,950,457 (GRCm39)	missense	probably damaging	0.96
R1723:Slc40a1	UTSW	1	45,963,921 (GRCm39)	missense	probably damaging	1.00
R1892:Slc40a1	UTSW	1	45,950,302 (GRCm39)	nonsense	probably null
R2092:Slc40a1	UTSW	1	45,948,614 (GRCm39)	missense	probably benign
R2303:Slc40a1	UTSW	1	45,950,044 (GRCm39)	splice site	probably benign
R2365:Slc40a1	UTSW	1	45,963,873 (GRCm39)	splice site	probably null
R3718:Slc40a1	UTSW	1	45,950,151 (GRCm39)	missense	probably benign
R4689:Slc40a1	UTSW	1	45,951,473 (GRCm39)	missense	probably benign	0.00
R4994:Slc40a1	UTSW	1	45,948,824 (GRCm39)	missense	probably damaging	1.00
R5103:Slc40a1	UTSW	1	45,958,155 (GRCm39)	nonsense	probably null
R5151:Slc40a1	UTSW	1	45,950,516 (GRCm39)	missense	possibly damaging	0.84
R5364:Slc40a1	UTSW	1	45,964,383 (GRCm39)	missense	probably damaging	0.96
R5404:Slc40a1	UTSW	1	45,951,488 (GRCm39)	missense	probably damaging	1.00
R5531:Slc40a1	UTSW	1	45,951,498 (GRCm39)	missense	probably damaging	1.00
R5841:Slc40a1	UTSW	1	45,951,509 (GRCm39)	missense	probably damaging	1.00
R6440:Slc40a1	UTSW	1	45,964,422 (GRCm39)	start codon destroyed	probably null	0.94
R6455:Slc40a1	UTSW	1	45,958,107 (GRCm39)	missense	probably damaging	0.99
R6975:Slc40a1	UTSW	1	45,948,652 (GRCm39)	missense	probably benign	0.19
R7085:Slc40a1	UTSW	1	45,950,688 (GRCm39)	missense	probably benign
R7130:Slc40a1	UTSW	1	45,960,384 (GRCm39)	missense	probably damaging	1.00
R7502:Slc40a1	UTSW	1	45,958,134 (GRCm39)	missense	probably damaging	1.00
R7755:Slc40a1	UTSW	1	45,950,466 (GRCm39)	missense	probably damaging	0.99
R8085:Slc40a1	UTSW	1	45,957,528 (GRCm39)	missense	probably damaging	1.00
R8218:Slc40a1	UTSW	1	45,950,129 (GRCm39)	missense	probably benign	0.03
R8308:Slc40a1	UTSW	1	45,950,180 (GRCm39)	missense	probably benign	0.02
R8333:Slc40a1	UTSW	1	45,950,439 (GRCm39)	missense	probably damaging	0.97
R8427:Slc40a1	UTSW	1	45,951,498 (GRCm39)	missense	probably damaging	1.00
R8515:Slc40a1	UTSW	1	45,951,467 (GRCm39)	missense	probably damaging	0.99
R8817:Slc40a1	UTSW	1	45,948,699 (GRCm39)	missense	probably damaging	1.00
R8981:Slc40a1	UTSW	1	45,948,580 (GRCm39)	missense	probably benign
R8987:Slc40a1	UTSW	1	45,950,495 (GRCm39)	missense	probably damaging	1.00
R9042:Slc40a1	UTSW	1	45,948,621 (GRCm39)	missense	probably benign	0.31
R9183:Slc40a1	UTSW	1	45,948,671 (GRCm39)	missense	possibly damaging	0.92
R9242:Slc40a1	UTSW	1	45,950,129 (GRCm39)	missense	probably benign
R9522:Slc40a1	UTSW	1	45,948,672 (GRCm39)	missense	probably damaging	1.00
R9582:Slc40a1	UTSW	1	45,950,499 (GRCm39)	missense	probably damaging	1.00
R9783:Slc40a1	UTSW	1	45,951,513 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCGACGTAGCCAGGTGAAG -3'
(R):5'- AGTTATTCCATGGCTGTACTTCG -3'

Sequencing Primer
(F):5'- GTGAAGGCCACAGTTCCCATTATTC -3'
(R):5'- CCATGGCTGTACTTCGTAAATTAGC -3'

Posted On

2021-01-18