Mutagenetix > Incidental Mutation

Incidental Mutation 'R8753:Slc23a1'

664004

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

068619-MU

Accession Numbers

Essential gene?

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

Stock #

R8753 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35747657-35760297 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 35752631 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamine at position 549 (K549Q)

Ref Sequence

ENSEMBL: ENSMUSP00000025212 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025212] [ENSMUST00000041314] [ENSMUST00000115734] [ENSMUST00000115735] [ENSMUST00000115736] [ENSMUST00000115737] [ENSMUST00000150877]

AlphaFold

Q9Z2J0

Predicted Effect

probably benign
Transcript: ENSMUST00000025212
AA Change: K549Q

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000025212
Gene: ENSMUSG00000024354
AA Change: K549Q

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: ENSMUST00000041314

SMART Domains

Protein: ENSMUSP00000036021
Gene: ENSMUSG00000037058

Domain	Start	End	E-Value	Type
low complexity region	38	72	N/A	INTRINSIC
Pfam:PAM2	107	123	2.4e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115734

SMART Domains

Protein: ENSMUSP00000111399
Gene: ENSMUSG00000037058

Domain	Start	End	E-Value	Type
low complexity region	38	72	N/A	INTRINSIC
Pfam:PAM2	107	123	2.4e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115735

SMART Domains

Protein: ENSMUSP00000111400
Gene: ENSMUSG00000037058

Domain	Start	End	E-Value	Type
low complexity region	38	72	N/A	INTRINSIC
Pfam:PAM2	106	123	1.8e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115736

SMART Domains

Protein: ENSMUSP00000111401
Gene: ENSMUSG00000037058

Domain	Start	End	E-Value	Type
low complexity region	38	72	N/A	INTRINSIC
Pfam:PAM2	107	123	2.4e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115737

SMART Domains

Protein: ENSMUSP00000111402
Gene: ENSMUSG00000037058

Domain	Start	End	E-Value	Type
low complexity region	38	72	N/A	INTRINSIC
Pfam:PAM2	107	123	2.4e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000150877

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

95% (59/62)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	T	C	2: 25,332,706 (GRCm39)	Y1496H	probably damaging	Het
Acan	G	A	7: 78,748,516 (GRCm39)	E1096K	possibly damaging	Het
Adprhl1	T	C	8: 13,272,118 (GRCm39)	K1547E	possibly damaging	Het
Ampd2	C	A	3: 107,987,432 (GRCm39)	V134L	probably benign	Het
Arf4	T	A	14: 26,374,114 (GRCm39)		probably benign	Het
Boc	A	T	16: 44,320,775 (GRCm39)	M295K		Het
C2cd3	T	A	7: 100,049,024 (GRCm39)		probably null	Het
Calcrl	C	G	2: 84,178,659 (GRCm39)	G223A	probably benign	Het
Calcrl	C	A	2: 84,178,661 (GRCm39)	M222I	probably benign	Het
Ccdc88b	T	C	19: 6,833,213 (GRCm39)	E278G	probably damaging	Het
Ccz1	A	G	5: 143,925,050 (GRCm39)	C469R	probably benign	Het
Cdc40	C	T	10: 40,717,480 (GRCm39)	D404N	probably damaging	Het
Clpx	G	A	9: 65,223,958 (GRCm39)	G251S	probably damaging	Het
Col6a3	C	G	1: 90,695,328 (GRCm39)		probably benign	Het
Cpox	T	A	16: 58,498,391 (GRCm39)	M408K	probably damaging	Het
Crybb3	A	G	5: 113,226,247 (GRCm39)		probably null	Het
Cubn	A	T	2: 13,313,377 (GRCm39)	C3064*	probably null	Het
Cxcl3	CCTGCTGCTGCTGCTG	CCTGCTGCTGCTG	5: 90,934,071 (GRCm39)		probably benign	Het
Cyp4a31	A	T	4: 115,432,158 (GRCm39)	S432C	probably benign	Het
Ddias	A	T	7: 92,508,668 (GRCm39)	F416I	probably damaging	Het
Dlat	G	T	9: 50,560,967 (GRCm39)	A360E	probably damaging	Het
Dnttip2	A	G	3: 122,074,398 (GRCm39)	T612A	probably damaging	Het
Fnip1	A	G	11: 54,400,867 (GRCm39)	T1089A	probably damaging	Het
Gm12117	A	T	11: 33,225,953 (GRCm39)	L128M	probably benign	Het
Gtf2h5	C	CA	17: 6,134,833 (GRCm39)		probably null	Het
Ibtk	T	C	9: 85,610,819 (GRCm39)	T285A	probably benign	Het
Ifi206	A	T	1: 173,301,223 (GRCm39)	N818K	unknown	Het
Itga10	T	G	3: 96,558,471 (GRCm39)	L305R	probably damaging	Het
Khnyn	T	C	14: 56,125,223 (GRCm39)	Y461H	possibly damaging	Het
Macroh2a2	T	C	10: 61,585,113 (GRCm39)	D177G	possibly damaging	Het
Mbtps1	T	C	8: 120,235,601 (GRCm39)	S1026G	possibly damaging	Het
Msantd4	A	G	9: 4,385,013 (GRCm39)	E246G	probably damaging	Het
N4bp1	T	C	8: 87,575,085 (GRCm39)	I737V	probably damaging	Het
Nav2	T	G	7: 49,102,320 (GRCm39)	S373A	probably benign	Het
Nbea	T	C	3: 55,534,329 (GRCm39)	Y2936C	probably damaging	Het
Nbeal1	A	T	1: 60,307,542 (GRCm39)	I1685F	probably damaging	Het
Nt5c3	C	G	6: 56,860,677 (GRCm39)	G293R	probably damaging	Het
Or4f14c	A	T	2: 111,940,802 (GRCm39)	V265E	probably benign	Het
Or52z1	T	A	7: 103,436,567 (GRCm39)	I306F	probably benign	Het
Pcnx2	A	T	8: 126,613,999 (GRCm39)	V484E	probably benign	Het
Pcsk5	C	T	19: 17,446,408 (GRCm39)	R1195Q	probably benign	Het
Perm1	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	4: 156,302,525 (GRCm39)		probably benign	Het
Pitpnm3	A	G	11: 71,942,704 (GRCm39)	V861A	probably benign	Het
Pkd1	A	G	17: 24,793,176 (GRCm39)	Y1621C	probably damaging	Het
Polr3a	C	A	14: 24,513,702 (GRCm39)	E846*	probably null	Het
Polr3e	T	C	7: 120,539,540 (GRCm39)	V455A	possibly damaging	Het
Prr5l	C	T	2: 101,571,723 (GRCm39)	G118D	probably damaging	Het
Pygl	G	T	12: 70,242,400 (GRCm39)	N685K	probably damaging	Het
Rfx8	A	G	1: 39,757,600 (GRCm39)	V56A	probably damaging	Het
Sbf1	T	C	15: 89,179,662 (GRCm39)	D1341G	probably benign	Het
Selenon	T	C	4: 134,275,330 (GRCm39)	T123A	probably benign	Het
Slc7a13	T	C	4: 19,841,443 (GRCm39)	F430S	probably damaging	Het
Smarcc2	G	A	10: 128,319,070 (GRCm39)	V707M	probably damaging	Het
St18	A	G	1: 6,916,015 (GRCm39)	S887G	probably damaging	Het
T2	T	C	17: 8,615,477 (GRCm39)		probably benign	Het
Tbc1d16	A	G	11: 119,101,492 (GRCm39)	L6P	probably damaging	Het
Tcf7l2	T	C	19: 55,920,195 (GRCm39)	L576P	possibly damaging	Het
Tnr	A	G	1: 159,677,936 (GRCm39)	D107G	probably benign	Het
Trpv1	G	T	11: 73,135,082 (GRCm39)	K426N	probably damaging	Het
Vmn1r15	A	T	6: 57,235,895 (GRCm39)	L254F	probably benign	Het
Vmn1r219	A	T	13: 23,347,191 (GRCm39)	I127F	probably damaging	Het
Zc3h14	A	T	12: 98,724,831 (GRCm39)	E164D	probably benign	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
R8444:Slc23a1	UTSW	18	35,757,489 (GRCm39)	missense	possibly damaging	0.95
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'- CTTGGTACACACAGACCCAG -3'
(R):5'- TTTAAGGTTTCTCAGAGCTCTGGC -3'

Sequencing Primer
(F):5'- AGACCCAGTTTCTATATTGTCTGGAG -3'
(R):5'- TTCTCAGAGCTCTGGCAAGTAAG -3'

Posted On

2021-03-08