Mutagenetix > Incidental Mutation

Incidental Mutation 'R6885:Slc46a1'

536804

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

045031-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6885 (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 78357805 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 286 (D286G)

Ref Sequence

ENSEMBL: ENSMUSP00000001126 (fasta)

Gene Model

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

AlphaFold

Q6PEM8

Predicted Effect

probably benign
Transcript: ENSMUST00000001126
AA Change: D286G

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000001126
Gene: ENSMUSG00000020829
AA Change: D286G

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

0.1054

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

98% (58/59)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,119,332 (GRCm39)	I1025M	probably benign	Het
Adamtsl5	T	A	10: 80,179,465 (GRCm39)	T164S	probably benign	Het
Ankar	C	T	1: 72,682,195 (GRCm39)	A1239T	unknown	Het
Aox4	A	T	1: 58,303,537 (GRCm39)	S1192C	probably damaging	Het
Atl2	T	C	17: 80,159,982 (GRCm39)	D68G	probably damaging	Het
Btnl4	T	C	17: 34,691,919 (GRCm39)	I228V	probably benign	Het
Catsper4	T	C	4: 133,942,460 (GRCm39)	T231A	probably benign	Het
Ccl12	A	T	11: 81,993,523 (GRCm39)	T54S	probably damaging	Het
Cntn1	T	C	15: 92,140,980 (GRCm39)		probably null	Het
Cog5	T	A	12: 31,944,198 (GRCm39)	D694E	probably damaging	Het
Crat	T	A	2: 30,305,208 (GRCm39)		probably benign	Het
Crot	T	C	5: 9,023,635 (GRCm39)	T418A	probably benign	Het
Cubn	G	A	2: 13,323,089 (GRCm39)	P2826L	probably damaging	Het
Dnah17	A	G	11: 117,981,598 (GRCm39)	F1698L	possibly damaging	Het
Dock8	T	A	19: 25,124,742 (GRCm39)	D1019E	possibly damaging	Het
Eps15	A	G	4: 109,166,361 (GRCm39)	N85D	probably damaging	Het
Exoc1	T	C	5: 76,706,889 (GRCm39)	S457P	probably damaging	Het
Ext1	G	A	15: 52,965,088 (GRCm39)	T426I	probably damaging	Het
Fat1	T	C	8: 45,405,489 (GRCm39)	S747P	possibly damaging	Het
Gas7	A	G	11: 67,574,213 (GRCm39)	D396G	probably damaging	Het
Gm5114	G	T	7: 39,057,580 (GRCm39)	R680S	probably benign	Het
Gpcpd1	A	T	2: 132,395,994 (GRCm39)	L94M	possibly damaging	Het
Gse1	C	A	8: 120,956,221 (GRCm39)		probably benign	Het
Hmgb1	T	C	5: 148,987,471 (GRCm39)	E26G	probably benign	Het
Incenp	C	T	19: 9,852,496 (GRCm39)	R714Q	unknown	Het
Krt73	T	C	15: 101,704,833 (GRCm39)	E351G	probably damaging	Het
Ksr1	A	G	11: 78,938,121 (GRCm39)		probably null	Het
Lpin2	T	G	17: 71,522,145 (GRCm39)	S60A	probably damaging	Het
Lrrc71	T	C	3: 87,649,927 (GRCm39)		probably null	Het
Mafb	A	G	2: 160,207,939 (GRCm39)	S220P	possibly damaging	Het
Maml3	TCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGTTGCTGCTGCTGC	TCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGTTGCTGCTGCTGC	3: 51,605,000 (GRCm39)			Het
Mcmbp	T	C	7: 128,326,833 (GRCm39)		probably null	Het
Or1e30	A	T	11: 73,677,926 (GRCm39)	H54L	possibly damaging	Het
Or4s2	A	G	2: 88,473,941 (GRCm39)	T277A	probably damaging	Het
Paqr9	T	C	9: 95,442,096 (GRCm39)	S29P	probably benign	Het
Parm1	A	G	5: 91,742,069 (GRCm39)	T146A	possibly damaging	Het
Pgm2	T	A	5: 64,261,221 (GRCm39)	F238L	probably benign	Het
Pigv	A	T	4: 133,392,792 (GRCm39)	F126Y	probably damaging	Het
Pitx2	T	C	3: 129,012,257 (GRCm39)	M222T	probably damaging	Het
Plekhg6	T	C	6: 125,355,693 (GRCm39)	N37S	probably benign	Het
Pramel25	T	C	4: 143,520,103 (GRCm39)	C116R	probably damaging	Het
Psme4	A	T	11: 30,784,307 (GRCm39)	K961*	probably null	Het
Rbpj	T	C	5: 53,810,493 (GRCm39)	W392R	probably damaging	Het
Reg3a	T	A	6: 78,358,038 (GRCm39)		probably null	Het
Rfc3	C	T	5: 151,571,749 (GRCm39)	S85N	probably benign	Het
Rtn3	T	C	19: 7,435,696 (GRCm39)	T80A	probably benign	Het
Sash1	T	C	10: 8,659,985 (GRCm39)	T195A	probably damaging	Het
Ska1	A	G	18: 74,339,910 (GRCm39)	V12A	probably benign	Het
Slc25a1	A	G	16: 17,745,294 (GRCm39)	V80A	probably benign	Het
Slc26a5	A	T	5: 22,039,342 (GRCm39)	V217D	probably damaging	Het
Spata2l	A	T	8: 123,962,297 (GRCm39)	L88Q	probably damaging	Het
Sptbn1	T	G	11: 30,088,634 (GRCm39)	Q876P	probably benign	Het
Tenm2	T	A	11: 35,914,407 (GRCm39)	I2377F	possibly damaging	Het
Thbs4	A	T	13: 92,899,377 (GRCm39)	D539E	probably damaging	Het
Tmem154	T	A	3: 84,599,813 (GRCm39)	C162S	possibly damaging	Het
Tpcn1	T	C	5: 120,682,502 (GRCm39)	E502G	probably benign	Het
Traf7	G	A	17: 24,731,266 (GRCm39)	R257C	probably benign	Het
Tsc22d2	T	C	3: 58,323,629 (GRCm39)	Y174H	probably damaging	Het
Usp8	A	G	2: 126,594,230 (GRCm39)	E802G	probably damaging	Het
Vmn1r5	T	C	6: 56,963,042 (GRCm39)	V239A	possibly damaging	Het
Vmn2r99	T	A	17: 19,600,457 (GRCm39)	S494T	possibly damaging	Het
Zbtb38	A	G	9: 96,568,517 (GRCm39)	F856L	probably damaging	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
R6807:Slc46a1	UTSW	11	78,357,790 (GRCm39)	missense	probably damaging	0.96
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'- GTTATGCCAACCCCTTCTGG -3'
(R):5'- GTTGAAAGCCAGGCCAATCTC -3'

Sequencing Primer
(F):5'- GATTGTCATGGCTCTATACGCAGC -3'
(R):5'- ATCTCAGCCACCCAGGTGTC -3'

Posted On

2018-10-18