Mutagenetix > Incidental Mutation

Incidental Mutation 'R9763:Slc23a1'

735845

Institutional Source

Beutler Lab

Gene Symbol

Slc23a1

Ensembl Gene

ENSMUSG00000024354

Gene Name

solute carrier family 23 (nucleobase transporters), member 1

Synonyms

Slc23a2, YSPL3, D18Ucla2, SVCT1

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.134) question?

Stock #

R9763 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

35614604-35627244 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35622311 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 484 (S484P)

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: S484P

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000025212
Gene: ENSMUSG00000024354
AA Change: S484P

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

probably benign
Transcript: ENSMUST00000150877

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.3%
20x: 98.5%

Validation Efficiency

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	T	1: 71,263,558	D2167E	possibly damaging	Het
Acadsb	T	A	7: 131,443,598	Y420N	probably benign	Het
Adcy1	T	A	11: 7,064,126	L176Q	probably damaging	Het
Amdhd1	T	A	10: 93,531,536	K252M	possibly damaging	Het
Aspa	C	A	11: 73,322,268	E83*	probably null	Het
Atat1	A	G	17: 35,910,007	L10P	probably damaging	Het
Ccdc141	T	A	2: 77,039,575	N862I	probably damaging	Het
Cdkal1	A	T	13: 29,625,709	C217*	probably null	Het
Cttnbp2	C	T	6: 18,435,241	S206N	probably benign	Het
Dner	A	T	1: 84,383,935	I651N	possibly damaging	Het
Epha8	G	T	4: 136,938,586	L420M	probably damaging	Het
Ercc6l2	T	C	13: 63,834,624	V91A	probably damaging	Het
Fam198a	A	G	9: 121,976,355	D404G	probably damaging	Het
Gm11639	G	A	11: 104,999,659	G4189E	possibly damaging	Het
Gm13941	A	G	2: 111,101,173	L38S	unknown	Het
Golph3l	G	A	3: 95,609,774	E198K	possibly damaging	Het
Hecw2	A	C	1: 53,923,915	D812E	probably damaging	Het
Ikzf2	T	A	1: 69,548,676	E212V	possibly damaging	Het
Il6st	C	T	13: 112,490,517	S281F	probably damaging	Het
Kmt2d	CTGTTG	CTG	15: 98,845,176		probably benign	Het
Krt71	T	G	15: 101,738,322	K317T	probably damaging	Het
Lgi4	T	C	7: 31,060,595	F72S	probably damaging	Het
Map3k1	C	T	13: 111,775,965	R174H	probably damaging	Het
Marveld3	T	A	8: 109,961,743	H122L	probably benign	Het
Mrgprb2	A	G	7: 48,552,426	S184P	probably benign	Het
Mylk	G	T	16: 34,879,112	G282*	probably null	Het
Myo16	T	A	8: 10,400,528	M510K	unknown	Het
Naip5	C	G	13: 100,230,761	A276P	probably damaging	Het
Olfr1016	T	G	2: 85,799,716	N185H	possibly damaging	Het
Olfr1045	A	T	2: 86,197,837	M305K	probably benign	Het
Olfr1507	T	G	14: 52,490,850	Y38S	probably damaging	Het
Olfr411	T	C	11: 74,347,215	Y3C	probably damaging	Het
Olfr518	T	A	7: 108,881,667		probably benign	Het
Olfr519	T	G	7: 108,894,003	I140L	probably benign	Het
Pdzrn4	T	C	15: 92,770,495	Y843H	probably damaging	Het
Prkca	A	G	11: 108,013,041	V242A	possibly damaging	Het
Rbbp8	A	T	18: 11,732,204	M717L	probably benign	Het
Rnf150	T	C	8: 83,006,339	S272P	probably benign	Het
Rtraf	A	G	14: 19,816,246	V134A	probably damaging	Het
Rubcnl	T	A	14: 75,049,668	L592*	probably null	Het
Slmap	A	G	14: 26,482,963	Y68H	probably damaging	Het
Speer4b	C	A	5: 27,500,208	V56L	probably damaging	Het
Sycp2l	T	A	13: 41,152,756	S84T		Het
Syne1	T	C	10: 5,057,858	D122G	probably benign	Het
Timd2	G	T	11: 46,682,713	P155T	probably benign	Het
Topbp1	G	A	9: 103,346,724	R1401Q	probably benign	Het
Trim36	C	A	18: 46,176,058	D312Y	probably benign	Het
Vps13c	A	G	9: 67,911,578	T1094A	probably benign	Het
Vwa8	T	A	14: 78,949,548	Y465N	probably damaging	Het
Zfpm1	T	C	8: 122,335,792	L530P	probably damaging	Het
Zmynd10	A	T	9: 107,548,766	T100S	probably benign	Het

Other mutations in Slc23a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01825:Slc23a1	APN	18	35624203	missense	probably damaging	1.00
IGL01969:Slc23a1	APN	18	35624754	missense	possibly damaging	0.93
R0360:Slc23a1	UTSW	18	35622979	splice site	probably benign
R1296:Slc23a1	UTSW	18	35622623	missense	possibly damaging	0.88
R1720:Slc23a1	UTSW	18	35625851	missense	possibly damaging	0.95
R2107:Slc23a1	UTSW	18	35625826	missense	possibly damaging	0.89
R2140:Slc23a1	UTSW	18	35626434	missense	unknown
R4694:Slc23a1	UTSW	18	35619580	missense	probably damaging	0.99
R5298:Slc23a1	UTSW	18	35622510	critical splice donor site	probably null
R5593:Slc23a1	UTSW	18	35622296	missense	probably damaging	1.00
R5629:Slc23a1	UTSW	18	35626492	missense	probably benign	0.00
R5842:Slc23a1	UTSW	18	35622882	missense	probably damaging	0.99
R6229:Slc23a1	UTSW	18	35619524	missense	probably benign	0.08
R6233:Slc23a1	UTSW	18	35624444	missense	probably damaging	1.00
R6268:Slc23a1	UTSW	18	35619571	missense	probably damaging	1.00
R6552:Slc23a1	UTSW	18	35622338	missense	probably damaging	1.00
R6966:Slc23a1	UTSW	18	35625061	missense	probably damaging	1.00
R7070:Slc23a1	UTSW	18	35621781	missense	probably damaging	1.00
R7586:Slc23a1	UTSW	18	35625838	missense	probably damaging	0.99
R7849:Slc23a1	UTSW	18	35624501	missense	probably benign	0.00
R7884:Slc23a1	UTSW	18	35625949	missense	possibly damaging	0.79
R8322:Slc23a1	UTSW	18	35622535	missense	probably damaging	1.00
R8324:Slc23a1	UTSW	18	35622535	missense	probably damaging	1.00
R8341:Slc23a1	UTSW	18	35622535	missense	probably damaging	1.00
R8342:Slc23a1	UTSW	18	35622535	missense	probably damaging	1.00
R8444:Slc23a1	UTSW	18	35624436	missense	possibly damaging	0.95
R8753:Slc23a1	UTSW	18	35619578	missense	probably benign	0.01
X0065:Slc23a1	UTSW	18	35626359	missense	unknown
Z1088:Slc23a1	UTSW	18	35624508	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GACCTTCAAGCCTGTCTGTACC -3'
(R):5'- CTGGGAGGAATGTTCTGCAC -3'

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

Posted On

2022-11-14