Mutagenetix > Incidental Mutation

Incidental Mutation 'R0255:Slc46a1'

34694

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

038486-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0255 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78356527-78362771 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78361625 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 424 (F424L)

Ref Sequence

ENSEMBL: ENSMUSP00000001126 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001126] [ENSMUST00000061174] [ENSMUST00000108287] [ENSMUST00000146431]

AlphaFold

Q6PEM8

Predicted Effect

probably damaging
Transcript: ENSMUST00000001126
AA Change: F424L

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

SMART Domains

Protein: ENSMUSP00000001126
Gene: ENSMUSG00000020829
AA Change: F424L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000061174

SMART Domains

Protein: ENSMUSP00000051059
Gene: ENSMUSG00000050132

Domain	Start	End	E-Value	Type
low complexity region	35	50	N/A	INTRINSIC
low complexity region	82	93	N/A	INTRINSIC
low complexity region	121	133	N/A	INTRINSIC
low complexity region	221	236	N/A	INTRINSIC
low complexity region	325	339	N/A	INTRINSIC
SAM	409	476	1.46e-19	SMART
SAM	479	548	9.5e-10	SMART
TIR	561	702	6.73e-20	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108287

SMART Domains

Protein: ENSMUSP00000103922
Gene: ENSMUSG00000050132

Domain	Start	End	E-Value	Type
low complexity region	35	50	N/A	INTRINSIC
low complexity region	82	93	N/A	INTRINSIC
low complexity region	121	133	N/A	INTRINSIC
low complexity region	221	236	N/A	INTRINSIC
low complexity region	325	339	N/A	INTRINSIC
SAM	409	476	1.46e-19	SMART
SAM	479	548	2.15e-8	SMART
TIR	601	742	6.73e-20	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000146431

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153534

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180786

Meta Mutation Damage Score

0.1553

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.6%

Validation Efficiency

93% (102/110)

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: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	C	10: 87,061,907 (GRCm39)	F119S	probably damaging	Het
Abca13	C	A	11: 9,531,545 (GRCm39)	Q4591K	probably damaging	Het
Anapc1	A	T	2: 128,476,631 (GRCm39)	M1329K	probably damaging	Het
Aoah	A	T	13: 21,163,710 (GRCm39)	K338*	probably null	Het
Ascc3	A	T	10: 50,521,154 (GRCm39)	T416S	probably benign	Het
Baz2a	A	G	10: 127,950,508 (GRCm39)	T484A	possibly damaging	Het
Btnl6	T	C	17: 34,727,477 (GRCm39)	N351S	probably benign	Het
Cacna1s	T	G	1: 136,046,544 (GRCm39)	I1772S	possibly damaging	Het
Ccdc8	A	G	7: 16,729,582 (GRCm39)	D357G	unknown	Het
Ccna1	T	C	3: 54,958,049 (GRCm39)	E152G	probably damaging	Het
Cct4	A	G	11: 22,949,073 (GRCm39)	D273G	probably damaging	Het
Cd9	A	G	6: 125,440,703 (GRCm39)	V96A	probably damaging	Het
Cdc5l	G	A	17: 45,726,610 (GRCm39)	R321W	probably damaging	Het
Cdh20	T	C	1: 109,922,036 (GRCm39)	S43P	probably benign	Het
Cep95	G	A	11: 106,702,097 (GRCm39)	V365M	probably benign	Het
Ces1c	T	C	8: 93,854,152 (GRCm39)	T128A	probably benign	Het
Chil5	A	G	3: 105,926,583 (GRCm39)	V82A	probably damaging	Het
Clmn	T	C	12: 104,748,023 (GRCm39)	D508G	probably benign	Het
Cog8	A	T	8: 107,775,777 (GRCm39)		probably benign	Het
Cst3	A	T	2: 148,717,089 (GRCm39)	V70E	probably damaging	Het
Ctcf	A	G	8: 106,390,671 (GRCm39)	T93A	possibly damaging	Het
Ctsk	C	A	3: 95,416,188 (GRCm39)	N315K	probably benign	Het
Cyp2j12	G	T	4: 96,029,262 (GRCm39)	D6E	probably benign	Het
Dhx34	A	G	7: 15,939,917 (GRCm39)	V655A	probably benign	Het
Dock10	T	C	1: 80,583,593 (GRCm39)	Y203C	probably damaging	Het
Dok7	A	T	5: 35,221,678 (GRCm39)	D26V	probably damaging	Het
Epha8	G	A	4: 136,667,597 (GRCm39)	H295Y	probably damaging	Het
Esf1	A	G	2: 139,990,843 (GRCm39)		probably benign	Het
Fam83c	A	G	2: 155,671,672 (GRCm39)	S588P	probably benign	Het
Fat3	G	A	9: 15,881,002 (GRCm39)		probably benign	Het
Fhdc1	T	C	3: 84,360,817 (GRCm39)		probably benign	Het
Frmd4b	A	G	6: 97,285,047 (GRCm39)	V338A	probably damaging	Het
Fsd1l	A	G	4: 53,694,727 (GRCm39)	T394A	probably damaging	Het
Gbf1	A	G	19: 46,242,549 (GRCm39)		probably benign	Het
Glg1	G	T	8: 111,886,490 (GRCm39)	Q1101K	possibly damaging	Het
Glt8d2	T	A	10: 82,487,361 (GRCm39)		probably null	Het
Gm19345	T	C	7: 19,588,855 (GRCm39)		probably benign	Het
Gpr179	A	T	11: 97,226,892 (GRCm39)	D1754E	probably benign	Het
Hydin	A	G	8: 111,291,650 (GRCm39)	T3381A	probably benign	Het
Igkv12-41	G	A	6: 69,835,822 (GRCm39)	T16I	possibly damaging	Het
Insl5	A	G	4: 102,875,313 (GRCm39)	*146Q	probably null	Het
Iqce	A	T	5: 140,651,957 (GRCm39)	I655N	possibly damaging	Het
Irf2bp1	G	A	7: 18,738,927 (GRCm39)	R189H	possibly damaging	Het
Itprid2	T	A	2: 79,490,810 (GRCm39)	L976Q	probably damaging	Het
Itsn1	C	T	16: 91,602,978 (GRCm39)		probably benign	Het
Kansl3	A	T	1: 36,384,050 (GRCm39)	I724N	probably benign	Het
Kcna4	T	C	2: 107,126,907 (GRCm39)	I547T	probably damaging	Het
Klk1b4	A	T	7: 43,860,158 (GRCm39)	I91F	probably benign	Het
Lmbr1	A	G	5: 29,457,753 (GRCm39)	S282P	probably damaging	Het
Lrrc17	G	A	5: 21,765,967 (GRCm39)	A150T	probably benign	Het
Lrrc2	A	G	9: 110,809,966 (GRCm39)	E334G	possibly damaging	Het
Lrrc7	G	A	3: 157,866,475 (GRCm39)	Q1077*	probably null	Het
Mapk8	A	T	14: 33,109,264 (GRCm39)		probably benign	Het
Mast1	T	A	8: 85,638,650 (GRCm39)	T1560S	probably benign	Het
Mdh1b	C	A	1: 63,758,777 (GRCm39)	A272S	probably damaging	Het
Myo15b	T	C	11: 115,777,109 (GRCm39)	Y912H	probably damaging	Het
Nf1	T	G	11: 79,299,525 (GRCm39)		probably null	Het
Nme7	T	A	1: 164,172,944 (GRCm39)	D218E	probably damaging	Het
Nsun7	T	A	5: 66,446,751 (GRCm39)		probably benign	Het
Nxpe2	A	G	9: 48,251,870 (GRCm39)		probably null	Het
Or1e34	A	G	11: 73,778,655 (GRCm39)	V181A	probably benign	Het
Or2ag16	G	A	7: 106,352,196 (GRCm39)	T133I	probably benign	Het
Or2n1c	T	G	17: 38,519,286 (GRCm39)	I50R	probably benign	Het
Or5p53	T	A	7: 107,533,375 (GRCm39)	V216D	probably damaging	Het
P2ry1	T	C	3: 60,910,951 (GRCm39)	V30A	probably benign	Het
Pgm2	T	A	5: 64,269,386 (GRCm39)	I491N	possibly damaging	Het
Pkd1l3	A	T	8: 110,365,386 (GRCm39)	D1169V	probably damaging	Het
Poldip2	T	A	11: 78,403,189 (GRCm39)	S18T	probably benign	Het
Prg4	C	T	1: 150,331,558 (GRCm39)		probably benign	Het
Prkab2	T	A	3: 97,574,728 (GRCm39)	Y241*	probably null	Het
Prmt7	A	G	8: 106,953,839 (GRCm39)		probably benign	Het
Proser3	T	A	7: 30,245,842 (GRCm39)	R80W	probably damaging	Het
Prr12	A	G	7: 44,699,415 (GRCm39)		probably benign	Het
Psmd1	A	T	1: 86,006,304 (GRCm39)	L223F	probably damaging	Het
Rab13	A	G	3: 90,131,088 (GRCm39)		probably benign	Het
Rgl1	C	T	1: 152,428,347 (GRCm39)	C294Y	probably damaging	Het
Rpl21-ps4	C	A	14: 11,227,556 (GRCm38)		noncoding transcript	Het
Rusc2	T	C	4: 43,423,954 (GRCm39)	V1036A	probably damaging	Het
Sae1	T	A	7: 16,104,247 (GRCm39)	K121*	probably null	Het
Sap130	C	T	18: 31,813,559 (GRCm39)	P539S	probably damaging	Het
Saxo4	C	T	19: 10,452,418 (GRCm39)	R364Q	probably damaging	Het
Scube2	A	G	7: 109,424,079 (GRCm39)	L475P	probably damaging	Het
Sec16a	T	C	2: 26,321,198 (GRCm39)	D1298G	probably damaging	Het
Serpinb9b	T	C	13: 33,222,003 (GRCm39)	F206L	probably benign	Het
Sh3bp1	T	A	15: 78,788,534 (GRCm39)	Y202*	probably null	Het
Shprh	T	A	10: 11,062,135 (GRCm39)	C1177S	possibly damaging	Het
Slc27a6	T	C	18: 58,742,937 (GRCm39)	Y542H	possibly damaging	Het
Slc41a1	T	C	1: 131,771,650 (GRCm39)		probably benign	Het
Slc66a2	C	T	18: 80,306,733 (GRCm39)	A101V	probably benign	Het
Slc6a12	G	A	6: 121,333,877 (GRCm39)	V238I	probably damaging	Het
Slc6a20a	A	G	9: 123,493,686 (GRCm39)	V65A	probably damaging	Het
Slc9c1	T	A	16: 45,374,663 (GRCm39)	S343T	probably benign	Het
Spcs3	C	A	8: 54,981,415 (GRCm39)	R60I	probably benign	Het
Tbc1d16	C	A	11: 119,038,401 (GRCm39)	R764L	possibly damaging	Het
Tcaf2	A	T	6: 42,619,838 (GRCm39)	V63E	possibly damaging	Het
Tmc1	G	T	19: 20,766,951 (GRCm39)	A750E	possibly damaging	Het
Tmem273	A	G	14: 32,530,320 (GRCm39)	K83E	possibly damaging	Het
Tmem81	C	G	1: 132,435,567 (GRCm39)	I124M	probably damaging	Het
Tmx3	T	C	18: 90,558,130 (GRCm39)	I394T	probably damaging	Het
Trank1	G	A	9: 111,195,092 (GRCm39)	E1039K	possibly damaging	Het
Trpc4ap	A	G	2: 155,499,866 (GRCm39)		probably benign	Het
Tsen54	T	C	11: 115,706,234 (GRCm39)	C123R	probably damaging	Het
Ubtd1	A	G	19: 42,020,373 (GRCm39)	D39G	possibly damaging	Het
Vmn1r181	A	T	7: 23,683,759 (GRCm39)	M75L	probably benign	Het
Zc3h7a	T	C	16: 10,958,601 (GRCm39)	T847A	probably damaging	Het
Zc3hav1	A	G	6: 38,313,485 (GRCm39)	C187R	probably damaging	Het
Zfp692	G	A	11: 58,201,229 (GRCm39)		probably benign	Het
Zmiz1	G	A	14: 25,654,919 (GRCm39)		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
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
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'- GGCCTCATTGAGCTTTTACTTCAACAC -3'
(R):5'- GGCTTTCTGTGACCACAGTTCTGC -3'

Sequencing Primer
(F):5'- CTTCAACACTGAGATTAGGAGGCTC -3'
(R):5'- agagagagagagccagagag -3'

Posted On

2013-05-09