Mutagenetix > Incidental Mutation

Incidental Mutation 'R8341:Slc23a1'

644922

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

067865-MU

Accession Numbers

Essential gene?

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

Stock #

R8341 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35747657-35760297 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 35755588 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Glutamic Acid at position 436 (G436E)

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: G436E

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

SMART Domains

Protein: ENSMUSP00000025212
Gene: ENSMUSG00000024354
AA Change: G436E

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (57/58)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,845,876 (GRCm39)	I915F	probably damaging	Het
Adam11	C	A	11: 102,667,362 (GRCm39)	H641N	probably damaging	Het
Amfr	A	G	8: 94,725,806 (GRCm39)	S192P	probably damaging	Het
Ano9	T	A	7: 140,682,247 (GRCm39)	N676I	possibly damaging	Het
Arfgef1	C	T	1: 10,224,553 (GRCm39)	V1428I	probably benign	Het
B3gnt9	C	T	8: 105,980,497 (GRCm39)	R297H	probably benign	Het
Bace2	C	T	16: 97,158,108 (GRCm39)	A36V	possibly damaging	Het
C1s1	C	T	6: 124,508,115 (GRCm39)	A625T	probably damaging	Het
Camkmt	T	C	17: 85,747,008 (GRCm39)	L251P	probably damaging	Het
Ceacam15	C	A	7: 16,405,928 (GRCm39)	V208F	probably benign	Het
Clp1	T	C	2: 84,554,117 (GRCm39)	K351E	probably damaging	Het
Csmd3	T	C	15: 47,561,547 (GRCm39)	Y1343C		Het
Cubn	C	A	2: 13,433,535 (GRCm39)	G1125V	probably damaging	Het
Dpp4	C	T	2: 62,178,234 (GRCm39)	V633I	probably benign	Het
Eif2ak1	A	T	5: 143,821,755 (GRCm39)	D357V	probably benign	Het
Fez1	T	C	9: 36,787,605 (GRCm39)	M370T	possibly damaging	Het
Frk	G	A	10: 34,462,279 (GRCm39)	E257K	probably damaging	Het
Gm7579	T	A	7: 141,765,856 (GRCm39)	C87*	probably null	Het
Henmt1	T	C	3: 108,865,908 (GRCm39)	V211A	probably damaging	Het
Hspg2	C	G	4: 137,246,290 (GRCm39)	P1023A	possibly damaging	Het
Ints9	T	A	14: 65,273,863 (GRCm39)	V556E	probably benign	Het
Itprid2	A	T	2: 79,488,062 (GRCm39)	K715I	probably damaging	Het
Klhl41	T	C	2: 69,500,868 (GRCm39)	S110P	probably benign	Het
Klrk1	T	C	6: 129,599,663 (GRCm39)		probably benign	Het
Kmt2e	A	T	5: 23,704,451 (GRCm39)	S1215C	probably damaging	Het
Lyn	T	C	4: 3,743,304 (GRCm39)		probably null	Het
Map2k5	T	A	9: 63,246,380 (GRCm39)	N116Y	probably damaging	Het
Map3k13	G	T	16: 21,740,334 (GRCm39)	E554*	probably null	Het
Map6	A	G	7: 98,917,647 (GRCm39)	E140G	possibly damaging	Het
Mpv17	A	C	5: 31,311,447 (GRCm39)		probably null	Het
Myo1c	C	T	11: 75,562,253 (GRCm39)	P883S	probably benign	Het
Myo7b	T	C	18: 32,116,979 (GRCm39)	M914V	probably benign	Het
Olfm2	C	T	9: 20,583,918 (GRCm39)		probably null	Het
Or2b4	G	A	17: 38,116,543 (GRCm39)	C169Y	probably damaging	Het
Osbpl7	T	G	11: 96,950,989 (GRCm39)	L612R	probably damaging	Het
Polq	A	T	16: 36,892,133 (GRCm39)	M2012L	possibly damaging	Het
Ppp1r7	G	A	1: 93,274,000 (GRCm39)	D59N	probably benign	Het
Ppp4r3c2	A	T	X: 88,798,322 (GRCm39)	K718M	probably damaging	Het
Ptbp1	A	C	10: 79,699,045 (GRCm39)	E534D	probably benign	Het
Qser1	A	G	2: 104,619,820 (GRCm39)	Y241H	probably damaging	Het
Rbx1	T	C	15: 81,358,078 (GRCm39)	L88P	probably damaging	Het
Rft1	T	C	14: 30,411,838 (GRCm39)	L462P	probably damaging	Het
Serpinb9f	T	A	13: 33,511,290 (GRCm39)	L77*	probably null	Het
Shisa9	T	C	16: 11,815,015 (GRCm39)	M221T	possibly damaging	Het
Slc12a2	T	G	18: 58,012,281 (GRCm39)	F135V	possibly damaging	Het
Slc44a2	T	C	9: 21,253,495 (GRCm39)	F88L	probably benign	Het
Snx21	A	G	2: 164,633,805 (GRCm39)	E197G	probably damaging	Het
Srarp	T	C	4: 141,160,707 (GRCm39)	D42G	possibly damaging	Het
St6galnac1	T	A	11: 116,659,714 (GRCm39)	M200L	probably benign	Het
Stambpl1	A	T	19: 34,211,401 (GRCm39)	Q154L	probably benign	Het
Szt2	G	T	4: 118,250,033 (GRCm39)	R492S	possibly damaging	Het
Thbs3	G	A	3: 89,132,698 (GRCm39)	R880Q	probably benign	Het
Tnks	A	T	8: 35,340,199 (GRCm39)	L473H	probably damaging	Het
Ttc4	A	G	4: 106,522,893 (GRCm39)	S342P	probably benign	Het
Uckl1	T	A	2: 181,211,512 (GRCm39)	M463L	probably benign	Het
Unc80	T	C	1: 66,688,192 (GRCm39)	S2397P	possibly damaging	Het
Vmn2r73	T	A	7: 85,507,128 (GRCm39)	H728L	probably benign	Het
Vsig10l	T	C	7: 43,113,378 (GRCm39)	V110A	probably damaging	Het
Zgrf1	T	A	3: 127,354,564 (GRCm39)	L61*	probably null	Het
Zswim5	A	G	4: 116,843,989 (GRCm39)	Y1009C	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
R5593:Slc23a1	UTSW	18	35,755,349 (GRCm39)	missense	probably damaging	1.00
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
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'- CCCAATACAAAGAGGTTGCGAG -3'
(R):5'- GAGAGCATCCCACCTTTATCC -3'

Sequencing Primer
(F):5'- TTGCGAGAAGAGTTCATGTCCAC -3'
(R):5'- GGAGTCCATTTATTCACCTAATACC -3'

Posted On

2020-09-02