Mutagenetix > Incidental Mutation

Incidental Mutation 'R8324:Slc23a1'

644030

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

Is this an essential gene?

Probably non essential (E-score: 0.177) question?

Stock #

R8324 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

35614604-35627244 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 35622535 bp (GRCm38)

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: 99.6%
20x: 98.6%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,290,395	S753P	probably damaging	Het
Acan	A	G	7: 79,091,056	E390G	probably damaging	Het
Antxr2	T	C	5: 97,938,509	N413S	probably damaging	Het
Bace2	C	T	16: 97,356,908	A36V	possibly damaging	Het
Caprin1	G	A	2: 103,783,181	R79*	probably null	Het
Cdan1	A	G	2: 120,727,325	V507A	probably benign	Het
Cdkl3	T	A	11: 52,022,879		probably null	Het
Chst5	A	T	8: 111,890,508	L160Q	probably benign	Het
Col11a1	C	G	3: 114,164,410	P1111R	probably damaging	Het
Col6a6	T	A	9: 105,755,654	E1470D	probably benign	Het
Cpped1	T	A	16: 11,805,476	T274S	probably benign	Het
Ctnnbl1	G	A	2: 157,779,815	E75K	probably damaging	Het
Cyp4f40	T	C	17: 32,659,528	S15P	probably benign	Het
Ddx46	T	C	13: 55,663,914	S643P	probably damaging	Het
Defb34	A	G	8: 19,123,798	Q16R	probably null	Het
Dhrs2	T	A	14: 55,238,764	V147E	probably damaging	Het
Dnah5	G	T	15: 28,346,865	R2498L	probably damaging	Het
Dpp10	T	A	1: 123,854,172	I93F	probably benign	Het
Eef1e1	T	A	13: 38,655,069	D104V	probably damaging	Het
Egfr	A	G	11: 16,858,971	Y55C	probably damaging	Het
Egfr	A	C	11: 16,908,885	I955L	probably damaging	Het
Ehbp1l1	C	A	19: 5,719,998	V426F	possibly damaging	Het
Fam234a	C	T	17: 26,218,698	V108I	probably benign	Het
Fzd8	T	A	18: 9,214,688	M590K	probably damaging	Het
Gm13287	T	C	4: 88,803,638	S129P	probably damaging	Het
Heatr5b	A	G	17: 78,755,364	S1919P	possibly damaging	Het
Hspg2	C	G	4: 137,518,979	P1023A	possibly damaging	Het
Ikbkap	C	T	4: 56,772,491	E877K	probably damaging	Het
Itpr2	T	C	6: 146,328,398	E1233G	probably damaging	Het
Kcnmb4	A	G	10: 116,418,314	L186P	probably damaging	Het
Krt72	T	A	15: 101,782,145	Y224F	probably damaging	Het
Loxhd1	T	C	18: 77,339,579		probably null	Het
Lrguk	A	G	6: 34,102,571	T914A	probably benign	Het
Lrrtm4	A	G	6: 80,021,991	T129A	probably damaging	Het
Mmp13	A	T	9: 7,276,636	I244F	possibly damaging	Het
Mob1a	T	A	6: 83,329,974	L41Q	probably damaging	Het
Mtcl1	T	C	17: 66,436,217	R426G	probably damaging	Het
Mybbp1a	T	C	11: 72,445,288		probably null	Het
Myh9	A	G	15: 77,788,917		probably null	Het
Myo1d	T	A	11: 80,557,521	D926V	probably damaging	Het
Ncapg	T	G	5: 45,695,668	H825Q	probably damaging	Het
Olfml1	T	C	7: 107,590,363	S212P	probably benign	Het
Olfr656	G	A	7: 104,618,114	R145H	probably benign	Het
Pak2	T	C	16: 32,052,211	N51S	probably benign	Het
Papln	T	C	12: 83,786,619	Y1132H	probably damaging	Het
Pax3	T	A	1: 78,193,789	R134S	probably damaging	Het
Pdzrn4	A	G	15: 92,770,937	E990G	probably damaging	Het
Peak1	A	T	9: 56,207,476	W1394R	probably damaging	Het
Pkn2	T	C	3: 142,829,010	N285D	probably benign	Het
Pramef12	A	C	4: 144,395,857	L39R	probably damaging	Het
Prrc2a	A	G	17: 35,156,984	S897P	possibly damaging	Het
Rad51	A	G	2: 119,123,831	T131A	possibly damaging	Het
Rc3h2	T	A	2: 37,400,726	T255S	possibly damaging	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Rictor	T	A	15: 6,745,562	V125E	probably damaging	Het
Rps6ka5	C	T	12: 100,558,487	D664N	possibly damaging	Het
Rreb1	T	A	13: 37,947,621	W1584R	probably damaging	Het
Rxra	T	C	2: 27,741,183	I142T	probably damaging	Het
Sall2	T	C	14: 52,312,886	T951A	probably benign	Het
Slc15a2	T	G	16: 36,759,307	N359T	probably damaging	Het
Slc6a13	T	C	6: 121,337,414	*603Q	probably null	Het
Sptb	T	C	12: 76,619,162	D894G	possibly damaging	Het
Srgn	A	G	10: 62,507,665	L17P	probably damaging	Het
Tmprss9	T	C	10: 80,897,371		probably null	Het
Trav9n-4	T	C	14: 53,294,946	F86L	probably benign	Het
Trp63	A	G	16: 25,876,734	Y482C	unknown	Het
Ttc9b	G	T	7: 27,653,969	A15S	probably damaging	Het
Urb1	A	T	16: 90,791,190	I410N	probably damaging	Het
Vmn2r82	A	T	10: 79,378,893	K237*	probably null	Het
Wwox	G	A	8: 114,489,005		probably null	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
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
R9763:Slc23a1	UTSW	18	35622311	missense	probably damaging	0.98
X0065:Slc23a1	UTSW	18	35626359	missense	unknown
Z1088:Slc23a1	UTSW	18	35624508	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCCCAATACAAAGAGGTTGCG -3'
(R):5'- GAGAGCATCCCACCTTTATCC -3'

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

Posted On

2020-09-02