Mutagenetix > Incidental Mutation

Incidental Mutation 'R6807:Slc46a1'

533614

Institutional Source

Beutler Lab

Gene Symbol

Slc46a1

Ensembl Gene

ENSMUSG00000020829

Gene Name

solute carrier family 46, member 1

Synonyms

HCP1, heme carrier protein 1, D11Ertd18e, 1110002C08Rik, PCFT

MMRRC Submission

044920-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6807 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78356527-78362771 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 78357790 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 281 (H281R)

Ref Sequence

ENSEMBL: ENSMUSP00000001126 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001126] [ENSMUST00000146431]

AlphaFold

Q6PEM8

Predicted Effect

probably damaging
Transcript: ENSMUST00000001126
AA Change: H281R

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

SMART Domains

Protein: ENSMUSP00000001126
Gene: ENSMUSG00000020829
AA Change: H281R

Domain	Start	End	E-Value	Type
Pfam:MFS_1	29	443	5.8e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000146431

Meta Mutation Damage Score

0.6064

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.9%

Validation Efficiency

100% (72/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane proton-coupled folate transporter protein that facilitates the movement of folate and antifolate substrates across cell membranes, optimally in acidic pH environments. This protein is also expressed in the brain and choroid plexus where it transports folates into the central nervous system. This protein further functions as a heme transporter in duodenal enterocytes, and potentially in other tissues like liver and kidney. Its localization to the apical membrane or cytoplasm of intestinal cells is modulated by dietary iron levels. Mutations in this gene are associated with autosomal recessive hereditary folate malabsorption disease. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased circulating and liver levels of N-homocysteine and total homocysteine. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	A	G	11: 84,282,356 (GRCm39)	T2158A	probably benign	Het
Apeh	G	A	9: 107,969,878 (GRCm39)	H186Y	probably damaging	Het
Apol7a	T	C	15: 77,277,520 (GRCm39)		probably null	Het
Bicdl1	C	T	5: 115,810,202 (GRCm39)		probably null	Het
Bop1	T	A	15: 76,339,183 (GRCm39)	Q362L	probably damaging	Het
C4b	T	C	17: 34,949,930 (GRCm39)	D1418G	probably benign	Het
Cdh23	A	G	10: 60,214,650 (GRCm39)	V1455A	possibly damaging	Het
Cecr2	T	G	6: 120,711,503 (GRCm39)		probably null	Het
Cer1	T	C	4: 82,801,052 (GRCm39)	S204G	probably benign	Het
Cers3	G	C	7: 66,413,968 (GRCm39)	W15C	probably damaging	Het
Csn1s2a	A	T	5: 87,929,731 (GRCm39)	H110L	probably benign	Het
Dnah10	T	G	5: 124,867,064 (GRCm39)		probably null	Het
Dync2h1	T	C	9: 7,041,718 (GRCm39)	N3315S	probably benign	Het
Dynlrb2	T	C	8: 117,234,299 (GRCm39)	M21T	probably benign	Het
Emilin1	T	A	5: 31,072,871 (GRCm39)	F103I	probably benign	Het
Esrra	T	A	19: 6,889,142 (GRCm39)	M416L	probably benign	Het
Etaa1	C	A	11: 17,902,680 (GRCm39)	V86L	probably benign	Het
Extl3	A	G	14: 65,314,211 (GRCm39)	S324P	probably damaging	Het
Fam90a1a	T	C	8: 22,453,368 (GRCm39)	V241A	probably benign	Het
Fat4	C	A	3: 39,036,589 (GRCm39)	Q3414K	probably benign	Het
Gpr162	C	T	6: 124,838,164 (GRCm39)	R162H	probably damaging	Het
Gpr21	T	A	2: 37,407,974 (GRCm39)	Y173*	probably null	Het
Gprc6a	G	A	10: 51,502,841 (GRCm39)	Q341*	probably null	Het
Herc2	T	A	7: 55,814,670 (GRCm39)	S2674R	probably damaging	Het
Hnrnpdl	A	T	5: 100,186,995 (GRCm39)	H9Q	probably null	Het
Hps1	A	G	19: 42,759,217 (GRCm39)	V125A	possibly damaging	Het
Iba57	G	T	11: 59,049,440 (GRCm39)	P243H	probably damaging	Het
Incenp	G	T	19: 9,855,120 (GRCm39)	A597E	unknown	Het
Kat6a	T	A	8: 23,430,384 (GRCm39)	M1913K	unknown	Het
Klb	G	A	5: 65,536,877 (GRCm39)	V736M	probably damaging	Het
Krt33a	T	A	11: 99,903,209 (GRCm39)	T278S	possibly damaging	Het
Krt73	T	G	15: 101,704,842 (GRCm39)	E348A	probably damaging	Het
Lig3	T	A	11: 82,674,577 (GRCm39)	D134E	probably benign	Het
Limd2	T	C	11: 106,049,771 (GRCm39)	T73A	probably benign	Het
Lrpprc	A	G	17: 85,056,531 (GRCm39)	S787P	possibly damaging	Het
Macf1	A	G	4: 123,268,208 (GRCm39)	M6735T	probably damaging	Het
Mapkbp1	C	A	2: 119,851,640 (GRCm39)	Q861K	probably damaging	Het
Mc4r	T	A	18: 66,992,927 (GRCm39)	N62I	probably damaging	Het
Metap1d	G	A	2: 71,341,858 (GRCm39)	V151I	probably damaging	Het
Nek2	T	C	1: 191,554,729 (GRCm39)	V147A	probably damaging	Het
Nlrp1b	A	T	11: 71,108,530 (GRCm39)	W324R	probably damaging	Het
Nol4l	G	T	2: 153,325,746 (GRCm39)	S113*	probably null	Het
Oc90	T	A	15: 65,761,463 (GRCm39)	D185V	probably damaging	Het
Or2a52	T	C	6: 43,144,172 (GRCm39)	F60S	probably damaging	Het
Or2v1	G	A	11: 49,025,805 (GRCm39)	R262K	probably damaging	Het
Or4a71	G	A	2: 89,357,932 (GRCm39)	T274M	probably damaging	Het
Or5m13	A	T	2: 85,748,382 (GRCm39)	T38S	possibly damaging	Het
Or5p51	T	A	7: 107,444,797 (GRCm39)	T48S	possibly damaging	Het
Or8g50	A	T	9: 39,648,914 (GRCm39)	K268*	probably null	Het
Pcdha8	A	G	18: 37,127,401 (GRCm39)	T628A	probably damaging	Het
Pcsk5	A	T	19: 17,549,986 (GRCm39)		probably null	Het
Pdgfrb	T	C	18: 61,211,721 (GRCm39)		probably null	Het
Pgm3	A	T	9: 86,438,555 (GRCm39)		probably null	Het
Pin1rt1	T	A	2: 104,545,063 (GRCm39)	Y23F	probably benign	Het
Poli	T	A	18: 70,663,222 (GRCm39)		probably null	Het
Pom121	C	A	5: 135,409,978 (GRCm39)		probably benign	Het
Ppp2r5c	A	G	12: 110,535,456 (GRCm39)	D407G	possibly damaging	Het
Pramel28	A	G	4: 143,691,581 (GRCm39)	S381P	probably damaging	Het
Rgs12	A	G	5: 35,180,515 (GRCm39)	D116G	probably null	Het
Serpina3b	A	T	12: 104,099,251 (GRCm39)	E255D	probably benign	Het
Sft2d1rt	T	C	11: 45,942,859 (GRCm39)	Q88R	probably damaging	Het
Spata6	T	C	4: 111,642,012 (GRCm39)	I294T	probably benign	Het
Srgap1	T	A	10: 121,664,631 (GRCm39)		probably null	Het
Stag1	C	T	9: 100,826,903 (GRCm39)	R957C	probably damaging	Het
Stk35	G	A	2: 129,643,573 (GRCm39)	E186K	probably damaging	Het
Tenm4	G	A	7: 96,202,703 (GRCm39)	R106H	probably benign	Het
Tenm4	G	A	7: 96,544,478 (GRCm39)	V2165I	probably damaging	Het
Tmem53	T	C	4: 117,125,528 (GRCm39)	S207P	probably benign	Het
Ugt2a3	A	G	5: 87,484,617 (GRCm39)	F136L	probably benign	Het
Unc13d	T	C	11: 115,957,577 (GRCm39)	K795E	probably damaging	Het
Zbtb11	C	A	16: 55,810,865 (GRCm39)	T341K	probably benign	Het

Other mutations in Slc46a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0242:Slc46a1	UTSW	11	78,359,493 (GRCm39)	missense	possibly damaging	0.58
R0242:Slc46a1	UTSW	11	78,359,493 (GRCm39)	missense	possibly damaging	0.58
R0255:Slc46a1	UTSW	11	78,361,625 (GRCm39)	missense	probably damaging	1.00
R1356:Slc46a1	UTSW	11	78,361,550 (GRCm39)	missense	probably benign	0.16
R2088:Slc46a1	UTSW	11	78,359,471 (GRCm39)	missense	possibly damaging	0.81
R2273:Slc46a1	UTSW	11	78,357,249 (GRCm39)	missense	probably benign	0.00
R2274:Slc46a1	UTSW	11	78,357,249 (GRCm39)	missense	probably benign	0.00
R2275:Slc46a1	UTSW	11	78,357,249 (GRCm39)	missense	probably benign	0.00
R4627:Slc46a1	UTSW	11	78,357,715 (GRCm39)	missense	probably benign	0.05
R4682:Slc46a1	UTSW	11	78,359,502 (GRCm39)	missense	possibly damaging	0.85
R5513:Slc46a1	UTSW	11	78,357,376 (GRCm39)	missense	probably benign	0.38
R5739:Slc46a1	UTSW	11	78,357,975 (GRCm39)	missense	possibly damaging	0.95
R6033:Slc46a1	UTSW	11	78,356,833 (GRCm39)	critical splice donor site	probably null
R6033:Slc46a1	UTSW	11	78,356,833 (GRCm39)	critical splice donor site	probably null
R6351:Slc46a1	UTSW	11	78,357,985 (GRCm39)	missense	probably benign	0.13
R6885:Slc46a1	UTSW	11	78,357,805 (GRCm39)	missense	probably benign	0.04
R7454:Slc46a1	UTSW	11	78,357,337 (GRCm39)	missense	probably damaging	0.97
R8425:Slc46a1	UTSW	11	78,359,471 (GRCm39)	missense	possibly damaging	0.81
R8772:Slc46a1	UTSW	11	78,356,777 (GRCm39)	missense	probably benign	0.19

Predicted Primers

PCR Primer
(F):5'- ATTGTCATGGCTCTATACGCAGC -3'
(R):5'- TGGTAGCAAACGCAAAGACC -3'

Sequencing Primer
(F):5'- ATGGCTCTATACGCAGCATTTTG -3'
(R):5'- TTCCCAGGATGTTGAAAGCC -3'

Posted On

2018-09-12