Mutagenetix > Incidental Mutation

Incidental Mutation 'R8444:Slc23a1'

654418

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

067826-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.263) question?

Stock #

R8444 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

35747657-35760297 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 35757489 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 261 (M261L)

Ref Sequence

ENSEMBL: ENSMUSP00000025212 (fasta)

Gene Model

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

AlphaFold

Q9Z2J0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025212
AA Change: M261L

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000025212
Gene: ENSMUSG00000024354
AA Change: M261L

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: 98.8%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010K14Rik	G	T	11: 70,127,755 (GRCm39)	R56S	possibly damaging	Het
Abca14	T	A	7: 119,918,133 (GRCm39)	I1545K	probably damaging	Het
Abca3	A	G	17: 24,602,959 (GRCm39)	Y518C	probably damaging	Het
Abcd2	A	G	15: 91,058,839 (GRCm39)	V535A	probably benign	Het
Adcy9	T	C	16: 4,106,487 (GRCm39)	T1113A	probably damaging	Het
Afdn	A	T	17: 14,104,062 (GRCm39)	N1133Y	probably benign	Het
Aip	T	A	19: 4,166,034 (GRCm39)	D139V	probably damaging	Het
Akap13	G	A	7: 75,380,213 (GRCm39)	R462H	probably damaging	Het
Aldh16a1	G	A	7: 44,799,115 (GRCm39)	P56S	probably benign	Het
Alpk3	A	C	7: 80,707,468 (GRCm39)	T31P	probably benign	Het
Aoc3	G	T	11: 101,232,573 (GRCm39)	R466S	unknown	Het
Atoh1	T	C	6: 64,706,641 (GRCm39)	L112P	probably benign	Het
Atp2b2	T	A	6: 113,770,772 (GRCm39)	N424I	probably benign	Het
Brms1	T	C	19: 5,091,520 (GRCm39)		probably null	Het
Casc3	C	T	11: 98,713,607 (GRCm39)	R280C	probably damaging	Het
Cd34	T	A	1: 194,640,808 (GRCm39)	S224R	probably benign	Het
Cdh20	T	A	1: 104,898,583 (GRCm39)	F437I	probably benign	Het
Cdkal1	A	T	13: 29,510,087 (GRCm39)	V557E	probably benign	Het
Cfap276	A	G	3: 108,451,384 (GRCm39)	H115R	probably benign	Het
Chst5	T	C	8: 112,617,395 (GRCm39)	H75R	probably damaging	Het
Col5a2	A	T	1: 45,435,305 (GRCm39)	N713K	probably benign	Het
Cpne5	A	T	17: 29,407,357 (GRCm39)	M181K	probably benign	Het
Cpt1a	T	C	19: 3,431,981 (GRCm39)	F731S	probably benign	Het
Cyfip1	A	G	7: 55,521,902 (GRCm39)	M69V	possibly damaging	Het
Dennd3	A	G	15: 73,442,672 (GRCm39)	K1232E	probably benign	Het
Dennd4b	A	T	3: 90,181,259 (GRCm39)	H805L	probably benign	Het
Dnm1l	C	T	16: 16,158,906 (GRCm39)	R108Q	probably damaging	Het
Dsc1	T	A	18: 20,222,636 (GRCm39)	D612V	probably benign	Het
Ephb2	C	T	4: 136,388,711 (GRCm39)	G628R	probably damaging	Het
Esrrb	G	A	12: 86,552,595 (GRCm39)	R195H	probably benign	Het
Flg2	A	T	3: 93,107,585 (GRCm39)	E23D	probably damaging	Het
Gja8	A	G	3: 96,826,990 (GRCm39)	L224P	probably damaging	Het
Hps6	T	G	19: 45,993,867 (GRCm39)	S601R	possibly damaging	Het
Ice1	T	C	13: 70,752,495 (GRCm39)	E1197G	probably damaging	Het
Ifnar2	C	A	16: 91,200,857 (GRCm39)	A366D	possibly damaging	Het
Ighm	A	C	12: 113,384,813 (GRCm39)	S347A		Het
Immt	C	T	6: 71,848,492 (GRCm39)	R494*	probably null	Het
Irs2	A	G	8: 11,056,683 (GRCm39)	V583A	probably damaging	Het
Kcnk4	T	C	19: 6,903,508 (GRCm39)	E347G	probably damaging	Het
Kif5b	T	A	18: 6,213,245 (GRCm39)	I716F	probably benign	Het
Klhl1	T	A	14: 96,755,326 (GRCm39)	D143V	probably benign	Het
Lrp1b	T	C	2: 40,760,272 (GRCm39)	T2999A		Het
Map3k9	A	G	12: 81,768,970 (GRCm39)	L1026P	probably damaging	Het
Mtg1	T	C	7: 139,718,283 (GRCm39)	V54A	probably damaging	Het
Mx1	G	T	16: 97,252,687 (GRCm39)	C231*	probably null	Het
Odad4	G	T	11: 100,452,731 (GRCm39)		probably null	Het
Or10ag59	G	A	2: 87,406,083 (GRCm39)	M218I	probably benign	Het
Or56a41	A	G	7: 104,740,165 (GRCm39)	V227A	probably damaging	Het
Or5p6	C	A	7: 107,631,070 (GRCm39)	W160L	probably benign	Het
Or5p79	A	G	7: 108,221,027 (GRCm39)	I3V	probably benign	Het
Or6c65	T	A	10: 129,603,794 (GRCm39)	V143E	probably damaging	Het
Otogl	T	A	10: 107,692,975 (GRCm39)	E836D	probably benign	Het
Pde6d	A	G	1: 86,471,250 (GRCm39)	S143P	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Pon1	C	T	6: 5,177,327 (GRCm39)	W194*	probably null	Het
Rbm25	T	A	12: 83,711,025 (GRCm39)	S379R	unknown	Het
Rnf111	A	T	9: 70,365,223 (GRCm39)	S415T	probably benign	Het
Shoc2	A	G	19: 53,976,503 (GRCm39)	Y131C	probably damaging	Het
Slc34a1	A	T	13: 24,003,061 (GRCm39)	H237L	probably benign	Het
Slc35d1	G	C	4: 103,071,896 (GRCm39)	I35M		Het
Slc8b1	C	T	5: 120,651,203 (GRCm39)		probably benign	Het
Smr3a	A	C	5: 88,152,611 (GRCm39)	L8F	unknown	Het
Snx8	G	A	5: 140,343,929 (GRCm39)	R96C	possibly damaging	Het
Srgap3	A	G	6: 112,752,509 (GRCm39)	V325A	possibly damaging	Het
Stk40	A	G	4: 126,012,127 (GRCm39)	T10A	probably benign	Het
Tmem177	A	T	1: 119,837,950 (GRCm39)	V243D	probably benign	Het
Trim6	G	A	7: 103,881,879 (GRCm39)	V403M	probably damaging	Het
Tysnd1	A	G	10: 61,531,950 (GRCm39)	R201G	probably benign	Het
Vmn2r67	A	T	7: 84,785,854 (GRCm39)	F717Y	probably benign	Het
Vmn2r72	A	G	7: 85,387,383 (GRCm39)	V727A	probably benign	Het
Wdr49	A	C	3: 75,358,997 (GRCm39)	D43E	probably benign	Het
Zbtb8b	A	G	4: 129,326,424 (GRCm39)	V247A	probably benign	Het
Zfp532	C	A	18: 65,757,330 (GRCm39)	A421E	possibly 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
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
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'- TCAGGGTCAACACGTAGCAG -3'
(R):5'- ATCTGTTTCTGGGCCCCAAC -3'

Sequencing Primer
(F):5'- GTCATGATGGCCAGCACAATCTG -3'
(R):5'- CCCCAACCTGGCCCACC -3'

Posted On

2020-10-20