Mutagenetix > Incidental Mutation

Incidental Mutation 'R5364:Slc40a1'

422965

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

042942-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5364 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45947228-45965683 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 45964383 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 14 (C14F)

Ref Sequence

ENSEMBL: ENSMUSP00000140549 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027137] [ENSMUST00000186804] [ENSMUST00000187406] [ENSMUST00000187420]

AlphaFold

Q9JHI9

Predicted Effect

probably damaging
Transcript: ENSMUST00000027137
AA Change: C14F

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000027137
Gene: ENSMUSG00000025993
AA Change: C14F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186755

Predicted Effect

probably damaging
Transcript: ENSMUST00000186804
AA Change: C14F

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000140969
Gene: ENSMUSG00000025993
AA Change: C14F

Domain	Start	End	E-Value	Type
Pfam:FPN1	22	70	4.9e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186822

Predicted Effect

probably damaging
Transcript: ENSMUST00000187406
AA Change: C14F

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000140734
Gene: ENSMUSG00000025993
AA Change: C14F

Domain	Start	End	E-Value	Type
Pfam:FPN1	22	70	4.9e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000187420
AA Change: C14F

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000140549
Gene: ENSMUSG00000025993
AA Change: C14F

Domain	Start	End	E-Value	Type
Pfam:FPN1	22	70	4.9e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188252

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191247

Meta Mutation Damage Score

0.4313

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.3%

Validation Efficiency

100% (102/102)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	C	G	7: 27,278,192 (GRCm39)	T242R	probably damaging	Het
Abcc10	G	A	17: 46,616,577 (GRCm39)	R1205C	probably benign	Het
Acer1	A	G	17: 57,289,000 (GRCm39)	F37L	probably damaging	Het
Acp7	C	A	7: 28,310,448 (GRCm39)	G463V	probably benign	Het
Actr2	A	T	11: 20,050,797 (GRCm39)		probably benign	Het
Adam15	A	T	3: 89,252,902 (GRCm39)	I272K	probably damaging	Het
Adam1b	T	A	5: 121,638,946 (GRCm39)	I700F	possibly damaging	Het
Adam33	A	G	2: 130,896,392 (GRCm39)		probably null	Het
Ano1	T	C	7: 144,190,941 (GRCm39)	Y380C	probably damaging	Het
Arfgap3	A	C	15: 83,198,562 (GRCm39)	M307R	probably damaging	Het
Arhgap21	T	A	2: 20,854,533 (GRCm39)	R1610W	probably damaging	Het
Bbs2	A	G	8: 94,801,023 (GRCm39)	Y603H	probably benign	Het
Bbs9	G	T	9: 22,486,492 (GRCm39)		probably null	Het
Bcar3	A	C	3: 122,323,281 (GRCm39)	M779L	probably benign	Het
Bub3	A	T	7: 131,162,467 (GRCm39)	N10I	possibly damaging	Het
Cacna1c	T	G	6: 118,633,504 (GRCm39)	E1098D	probably benign	Het
Cacna1g	T	A	11: 94,307,684 (GRCm39)	M1738L	probably benign	Het
Camk2d	G	T	3: 126,574,069 (GRCm39)	G159C	probably damaging	Het
Ccdc51	A	T	9: 108,921,188 (GRCm39)	E358D	possibly damaging	Het
Cdc42bpa	A	G	1: 179,894,747 (GRCm39)	D309G	probably benign	Het
Cdhr3	A	T	12: 33,101,007 (GRCm39)	F468I	possibly damaging	Het
Chrd	A	G	16: 20,551,898 (GRCm39)	M1V	probably null	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Dcdc2b	T	C	4: 129,502,963 (GRCm39)	Y253C	probably damaging	Het
Dclk1	A	C	3: 55,163,366 (GRCm39)	N153H	possibly damaging	Het
Dgkg	G	T	16: 22,419,211 (GRCm39)	S96R	probably benign	Het
Dnah9	A	G	11: 65,772,522 (GRCm39)	Y3737H	possibly damaging	Het
Elovl4	A	T	9: 83,672,076 (GRCm39)	I81N	probably benign	Het
Epha7	T	A	4: 28,950,557 (GRCm39)	Y791N	probably damaging	Het
Fam193a	C	A	5: 34,623,597 (GRCm39)	T1395N	probably benign	Het
Fbln5	A	T	12: 101,737,623 (GRCm39)	V141E	probably damaging	Het
Flii	T	C	11: 60,610,954 (GRCm39)	T492A	probably benign	Het
Fnip2	A	G	3: 79,388,475 (GRCm39)	I752T	probably benign	Het
Fpr3	T	C	17: 18,190,806 (GRCm39)	W26R	probably benign	Het
Gabrb1	A	T	5: 72,294,105 (GRCm39)	T460S	probably benign	Het
Gde1	T	C	7: 118,297,874 (GRCm39)	N4S	probably benign	Het
Ghitm	G	T	14: 36,847,156 (GRCm39)	T306K	probably benign	Het
Ghitm	A	T	14: 36,847,174 (GRCm39)	I300N	probably damaging	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Iqcd	T	C	5: 120,738,332 (GRCm39)	I50T	probably damaging	Het
Itpripl1	G	A	2: 126,983,739 (GRCm39)	P128S	possibly damaging	Het
Jag2	C	A	12: 112,874,154 (GRCm39)	L1000F	probably damaging	Het
Klhdc4	A	T	8: 122,533,375 (GRCm39)		probably benign	Het
Klra5	A	G	6: 129,876,316 (GRCm39)	F164L	probably benign	Het
Larp1b	A	G	3: 40,931,658 (GRCm39)	Y288C	probably damaging	Het
Lrfn3	T	A	7: 30,055,078 (GRCm39)	E622D	possibly damaging	Het
Lyst	A	G	13: 13,831,439 (GRCm39)	D1621G	probably benign	Het
Mastl	T	C	2: 23,023,665 (GRCm39)	T353A	probably benign	Het
Mkln1	T	C	6: 31,473,647 (GRCm39)	Y130H	probably damaging	Het
Mms22l	T	A	4: 24,496,882 (GRCm39)		probably benign	Het
Mroh7	T	A	4: 106,548,840 (GRCm39)	M1008L	probably benign	Het
Nipal1	T	C	5: 72,825,243 (GRCm39)	V312A	probably damaging	Het
Nlrp5	T	A	7: 23,117,753 (GRCm39)	Y492*	probably null	Het
Odad1	T	A	7: 45,585,756 (GRCm39)	I105N	probably damaging	Het
Or1n1	T	C	2: 36,750,006 (GRCm39)	Y118C	probably damaging	Het
Otulinl	G	A	15: 27,660,031 (GRCm39)	Q24*	probably null	Het
Pcdhb11	T	A	18: 37,555,232 (GRCm39)	D187E	probably benign	Het
Pcdhb13	A	G	18: 37,576,561 (GRCm39)	Y313C	probably damaging	Het
Pdpn	G	A	4: 143,000,526 (GRCm39)	T102I	possibly damaging	Het
Pear1	A	T	3: 87,665,668 (GRCm39)	C120S	probably damaging	Het
Peg10	T	C	6: 4,756,128 (GRCm39)		probably benign	Het
Ppm1e	A	G	11: 87,128,007 (GRCm39)	W384R	probably benign	Het
Ppp1r10	C	T	17: 36,241,324 (GRCm39)	P700S	unknown	Het
Prl2c5	G	A	13: 13,357,627 (GRCm39)	R13K	probably benign	Het
Prmt3	C	A	7: 49,498,554 (GRCm39)	P487T	probably damaging	Het
Proser3	C	A	7: 30,245,573 (GRCm39)	A144S	possibly damaging	Het
Ptcd1	G	A	5: 145,088,241 (GRCm39)	T590I	probably damaging	Het
Rbsn	A	G	6: 92,170,958 (GRCm39)	V321A	probably damaging	Het
Slc6a15	T	C	10: 103,229,369 (GRCm39)	I136T	probably damaging	Het
Slc7a4	A	G	16: 17,391,227 (GRCm39)	I449T	probably benign	Het
Snrnp48	T	A	13: 38,394,165 (GRCm39)		probably null	Het
Tada2a	A	G	11: 84,011,973 (GRCm39)	Y23H	probably benign	Het
Tbx15	A	T	3: 99,259,508 (GRCm39)	S460C	possibly damaging	Het
Tbx21	C	T	11: 96,992,304 (GRCm39)		probably null	Het
Tmcc2	T	G	1: 132,285,534 (GRCm39)	T376P	probably damaging	Het
Tmco4	G	A	4: 138,779,815 (GRCm39)	C420Y	probably damaging	Het
Tmem235	C	A	11: 117,755,020 (GRCm39)	Y157*	probably null	Het
Tmem63b	T	C	17: 45,975,653 (GRCm39)		probably benign	Het
Tnfrsf1a	T	C	6: 125,334,356 (GRCm39)	S92P	possibly damaging	Het
Top3b	A	T	16: 16,704,834 (GRCm39)	T397S	probably benign	Het
Trabd	C	A	15: 88,967,007 (GRCm39)		probably benign	Het
Trbv21	A	T	6: 41,179,764 (GRCm39)	I27L	possibly damaging	Het
Trim3	C	T	7: 105,268,276 (GRCm39)	V169M	probably damaging	Het
Ttn	T	C	2: 76,807,458 (GRCm39)	T92A	probably damaging	Het
Ttn	C	T	2: 76,738,860 (GRCm39)	S3893N	probably benign	Het
Uchl4	A	T	9: 64,142,821 (GRCm39)	I101F	possibly damaging	Het
Vmn1r5	T	A	6: 56,962,583 (GRCm39)	M86K	probably damaging	Het
Vmn2r55	T	A	7: 12,404,830 (GRCm39)	Q191L	possibly damaging	Het
Zfp458	A	T	13: 67,406,012 (GRCm39)	C139*	probably null	Het
Zfp788	T	C	7: 41,299,551 (GRCm39)	L729P	probably damaging	Het
Zmym2	T	A	14: 57,158,102 (GRCm39)	M547K	possibly 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
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
R8493:Slc40a1	UTSW	1	45,950,576 (GRCm39)	missense	probably damaging	0.98
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'- AGAAATTTCACCCTGCCCAG -3'
(R):5'- AAGACCCCGTGACAGCTTTG -3'

Sequencing Primer
(F):5'- AGGTTACTCTATCCCTGCCTATATG -3'
(R):5'- CCTTTGGGGTCTTTCGGCATAAG -3'

Posted On

2016-08-04