Mutagenetix > Incidental Mutation

Incidental Mutation 'R5593:Slc23a1'

437665

Institutional Source

Beutler Lab

Gene Symbol

Slc23a1

Ensembl Gene

ENSMUSG00000024354

Gene Name

solute carrier family 23 (nucleobase transporters), member 1

Synonyms

Slc23a2, SVCT1, D18Ucla2, YSPL3

MMRRC Submission

043145-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.235) question?

Stock #

R5593 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35747657-35760297 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 35755349 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 489 (I489F)

Ref Sequence

ENSEMBL: ENSMUSP00000025212 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025212] [ENSMUST00000150877]

AlphaFold

Q9Z2J0

Predicted Effect

probably damaging
Transcript: ENSMUST00000025212
AA Change: I489F

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

SMART Domains

Protein: ENSMUSP00000025212
Gene: ENSMUSG00000024354
AA Change: I489F

Domain	Start	End	E-Value	Type
Pfam:Xan_ur_permease	50	484	4.9e-91	PFAM
transmembrane domain	496	518	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123242

Predicted Effect

probably benign
Transcript: ENSMUST00000150877

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153293

Meta Mutation Damage Score

0.3174

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

100% (71/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The absorption of vitamin C into the body and its distribution to organs requires two sodium-dependent vitamin C transporters. This gene encodes one of the two transporters. The encoded protein is active in bulk vitamin C transport involving epithelial surfaces. Previously, this gene had an official symbol of SLC23A2. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal ascorbate homeostasis and early postnatal lethality associated with lethargy and lack of gastric milk. Heterozygous mice of homozgous dams exhibit a similar phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930556J24Rik	C	T	11: 3,888,027 (GRCm39)	V120I	unknown	Het
Anpep	T	G	7: 79,491,794 (GRCm39)	K69T	probably benign	Het
Appbp2	A	T	11: 85,085,409 (GRCm39)	I499K	possibly damaging	Het
Copb2	A	G	9: 98,469,091 (GRCm39)		probably null	Het
Cpa5	T	C	6: 30,630,848 (GRCm39)	I370T	probably benign	Het
Cpn2	T	C	16: 30,078,898 (GRCm39)	T268A	probably benign	Het
Ctbp2	C	A	7: 132,600,598 (GRCm39)	R99I	possibly damaging	Het
Cul1	G	A	6: 47,462,020 (GRCm39)	W196*	probably null	Het
Cul1	T	C	6: 47,491,925 (GRCm39)	F402L	probably damaging	Het
Cysltr2	T	C	14: 73,266,931 (GRCm39)	K260E	probably benign	Het
Dyrk1a	C	A	16: 94,460,442 (GRCm39)	Q33K	possibly damaging	Het
Elapor2	T	A	5: 9,316,350 (GRCm39)	L27Q	probably benign	Het
Epg5	T	A	18: 78,000,689 (GRCm39)	S542T	probably damaging	Het
Eps8l3	A	T	3: 107,798,504 (GRCm39)		probably benign	Het
Evc2	A	G	5: 37,544,321 (GRCm39)	H690R	probably damaging	Het
Fam227a	G	A	15: 79,524,259 (GRCm39)		probably benign	Het
Gadl1	G	T	9: 115,835,718 (GRCm39)	G382V	probably damaging	Het
Gbf1	A	G	19: 46,260,963 (GRCm39)	Q1176R	possibly damaging	Het
Gdf9	A	T	11: 53,324,558 (GRCm39)	H109L	probably damaging	Het
Gsdmd	T	A	15: 75,738,856 (GRCm39)	V411D	probably damaging	Het
Hdc	T	C	2: 126,460,504 (GRCm39)		probably benign	Het
Ifrd2	A	G	9: 107,467,374 (GRCm39)	D82G	probably damaging	Het
Itpkb	T	C	1: 180,161,661 (GRCm39)	S596P	probably damaging	Het
Kcnmb3	A	G	3: 32,546,096 (GRCm39)	V8A	possibly damaging	Het
Lyst	T	G	13: 13,917,918 (GRCm39)	I3326S	probably damaging	Het
Mcm9	G	A	10: 53,414,393 (GRCm39)	T229I	probably damaging	Het
Medag	T	A	5: 149,350,415 (GRCm39)	F21L	probably benign	Het
Mefv	A	T	16: 3,533,315 (GRCm39)	C319S	probably benign	Het
Mettl23	T	A	11: 116,734,593 (GRCm39)	V54D	probably damaging	Het
Mul1	A	G	4: 138,166,543 (GRCm39)	D199G	probably damaging	Het
Ncor1	A	T	11: 62,260,130 (GRCm39)	I266N	probably damaging	Het
Nek10	A	T	14: 14,980,544 (GRCm38)	K967*	probably null	Het
Nrcam	A	G	12: 44,606,483 (GRCm39)	T410A	probably damaging	Het
Or1p1	A	G	11: 74,179,618 (GRCm39)	I49V	possibly damaging	Het
Or2b11	T	C	11: 59,461,874 (GRCm39)	R231G	possibly damaging	Het
Or52d13	C	T	7: 103,109,592 (GRCm39)		silent	Het
Or52e4	T	C	7: 104,705,711 (GRCm39)	I86T	probably damaging	Het
Pate2	A	T	9: 35,581,778 (GRCm39)	D24V	possibly damaging	Het
Plcb3	T	C	19: 6,932,117 (GRCm39)	I1124V	possibly damaging	Het
Ptprc	A	T	1: 138,045,458 (GRCm39)		probably benign	Het
Rab6a	T	C	7: 100,257,378 (GRCm39)		probably benign	Het
Rnf208	G	T	2: 25,133,345 (GRCm39)	W13L	possibly damaging	Het
Rps6kl1	G	T	12: 85,193,675 (GRCm39)	Q139K	possibly damaging	Het
Sdk1	T	A	5: 141,941,879 (GRCm39)	I509N	probably damaging	Het
Sephs1	A	G	2: 4,898,098 (GRCm39)	I170V	probably benign	Het
Slc17a8	C	T	10: 89,442,702 (GRCm39)	D44N	probably benign	Het
Slc25a19	A	T	11: 115,507,418 (GRCm39)	Y235N	probably damaging	Het
Slc47a2	A	G	11: 61,233,486 (GRCm39)	V40A	probably benign	Het
Slurp2	C	T	15: 74,614,917 (GRCm39)	V75I	probably benign	Het
Smc1b	A	C	15: 85,005,842 (GRCm39)	M354R	probably benign	Het
Spice1	C	A	16: 44,191,115 (GRCm39)	A323E	possibly damaging	Het
Sptbn2	T	A	19: 4,798,975 (GRCm39)	V2015E	probably damaging	Het
Sptlc2	A	C	12: 87,415,857 (GRCm39)	F57V	probably benign	Het
Srsf1	A	G	11: 87,938,705 (GRCm39)	N14S	possibly damaging	Het
Ssh2	T	A	11: 77,312,192 (GRCm39)	D228E	probably damaging	Het
Synj2	A	G	17: 6,088,390 (GRCm39)	*1480W	probably null	Het
Syt14	A	T	1: 192,613,231 (GRCm39)	M523K	probably damaging	Het
Tff3	A	T	17: 31,348,516 (GRCm39)	V12E	probably benign	Het
Tgm2	C	A	2: 157,969,262 (GRCm39)	C371F	probably damaging	Het
Tmem260	A	C	14: 48,711,501 (GRCm39)	I197L	probably benign	Het
Unc5a	A	G	13: 55,152,747 (GRCm39)	D887G	possibly damaging	Het
Vstm4	G	T	14: 32,641,247 (GRCm39)	A277S	probably benign	Het
Wdtc1	A	T	4: 133,021,702 (GRCm39)		probably null	Het
Zan	A	G	5: 137,466,600 (GRCm39)	F419S	possibly damaging	Het
Zfp317	G	A	9: 19,558,584 (GRCm39)	R266Q	probably damaging	Het
Zfp931	T	A	2: 177,709,595 (GRCm39)	T264S	possibly damaging	Het
Zpld2	T	C	4: 133,920,350 (GRCm39)	K605R	probably damaging	Het

Other mutations in Slc23a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01825:Slc23a1	APN	18	35,757,256 (GRCm39)	missense	probably damaging	1.00
IGL01969:Slc23a1	APN	18	35,757,807 (GRCm39)	missense	possibly damaging	0.93
R0360:Slc23a1	UTSW	18	35,756,032 (GRCm39)	splice site	probably benign
R1296:Slc23a1	UTSW	18	35,755,676 (GRCm39)	missense	possibly damaging	0.88
R1720:Slc23a1	UTSW	18	35,758,904 (GRCm39)	missense	possibly damaging	0.95
R2107:Slc23a1	UTSW	18	35,758,879 (GRCm39)	missense	possibly damaging	0.89
R2140:Slc23a1	UTSW	18	35,759,487 (GRCm39)	missense	unknown
R4694:Slc23a1	UTSW	18	35,752,633 (GRCm39)	missense	probably damaging	0.99
R5298:Slc23a1	UTSW	18	35,755,563 (GRCm39)	critical splice donor site	probably null
R5629:Slc23a1	UTSW	18	35,759,545 (GRCm39)	missense	probably benign	0.00
R5842:Slc23a1	UTSW	18	35,755,935 (GRCm39)	missense	probably damaging	0.99
R6229:Slc23a1	UTSW	18	35,752,577 (GRCm39)	missense	probably benign	0.08
R6233:Slc23a1	UTSW	18	35,757,497 (GRCm39)	missense	probably damaging	1.00
R6268:Slc23a1	UTSW	18	35,752,624 (GRCm39)	missense	probably damaging	1.00
R6552:Slc23a1	UTSW	18	35,755,391 (GRCm39)	missense	probably damaging	1.00
R6966:Slc23a1	UTSW	18	35,758,114 (GRCm39)	missense	probably damaging	1.00
R7070:Slc23a1	UTSW	18	35,754,834 (GRCm39)	missense	probably damaging	1.00
R7586:Slc23a1	UTSW	18	35,758,891 (GRCm39)	missense	probably damaging	0.99
R7849:Slc23a1	UTSW	18	35,757,554 (GRCm39)	missense	probably benign	0.00
R7884:Slc23a1	UTSW	18	35,759,002 (GRCm39)	missense	possibly damaging	0.79
R8322:Slc23a1	UTSW	18	35,755,588 (GRCm39)	missense	probably damaging	1.00
R8324:Slc23a1	UTSW	18	35,755,588 (GRCm39)	missense	probably damaging	1.00
R8341:Slc23a1	UTSW	18	35,755,588 (GRCm39)	missense	probably damaging	1.00
R8342:Slc23a1	UTSW	18	35,755,588 (GRCm39)	missense	probably damaging	1.00
R8444:Slc23a1	UTSW	18	35,757,489 (GRCm39)	missense	possibly damaging	0.95
R8753:Slc23a1	UTSW	18	35,752,631 (GRCm39)	missense	probably benign	0.01
R9763:Slc23a1	UTSW	18	35,755,364 (GRCm39)	missense	probably damaging	0.98
X0065:Slc23a1	UTSW	18	35,759,412 (GRCm39)	missense	unknown
Z1088:Slc23a1	UTSW	18	35,757,561 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CAAGCCTGTCTGTACCTCTG -3'
(R):5'- GGGAGGAATGTTCTGCACTC -3'

Sequencing Primer
(F):5'- CCATCTTTGGGGAGAAACTTCTGAC -3'
(R):5'- GTGAGTGTCTGATGCCTCCC -3'

Posted On

2016-10-26