Mutagenetix > Incidental Mutation

Incidental Mutation 'R4694:Slc23a1'

355592

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

041945-MU

Accession Numbers

Essential gene?

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

Stock #

R4694 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35747657-35760297 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35752633 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 548 (L548P)

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 damaging
Transcript: ENSMUST00000025212
AA Change: L548P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000025212
Gene: ENSMUSG00000024354
AA Change: L548P

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

noncoding transcript
Transcript: ENSMUST00000123242

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153293

Predicted Effect

probably benign
Transcript: ENSMUST00000150877

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.3%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	A	T	17: 84,979,586 (GRCm39)	F258Y	probably damaging	Het
Adamtsl4	C	T	3: 95,587,055 (GRCm39)	R765H	probably damaging	Het
Bicd1	T	A	6: 149,311,051 (GRCm39)	L42Q	probably damaging	Het
Cacna1e	C	T	1: 154,313,012 (GRCm39)		probably null	Het
Capn1	T	A	19: 6,044,761 (GRCm39)	K504*	probably null	Het
Cdh15	G	A	8: 123,588,763 (GRCm39)	R279Q	probably damaging	Het
Cep350	T	C	1: 155,804,332 (GRCm39)	K917R	probably damaging	Het
Cp	A	T	3: 20,029,049 (GRCm39)	T509S	probably benign	Het
Cyp2d10	T	C	15: 82,288,684 (GRCm39)	D266G	probably damaging	Het
Dhodh	C	G	8: 110,333,048 (GRCm39)	R7P	probably damaging	Het
Dmxl2	A	G	9: 54,354,189 (GRCm39)	L419P	probably benign	Het
Epb41l4b	A	T	4: 57,019,875 (GRCm39)	M84K	probably benign	Het
Fbln7	A	G	2: 128,722,345 (GRCm39)		probably null	Het
Fbxw11	C	T	11: 32,592,820 (GRCm39)		probably benign	Het
Flnc	C	A	6: 29,443,447 (GRCm39)	P543T	probably damaging	Het
Grid1	T	C	14: 34,748,737 (GRCm39)	S186P	probably damaging	Het
Hcfc2	C	T	10: 82,559,534 (GRCm39)	T382M	probably damaging	Het
Hdac9	G	T	12: 34,487,246 (GRCm39)	L73I	probably damaging	Het
Hnrnpa2b1	A	T	6: 51,441,163 (GRCm39)	D302E	probably damaging	Het
Ifi204	C	T	1: 173,576,825 (GRCm39)	C592Y	probably damaging	Het
Jph1	T	A	1: 17,067,729 (GRCm39)	I653F	probably damaging	Het
Kcnj3	A	G	2: 55,484,918 (GRCm39)	K339E	probably benign	Het
Kcp	G	A	6: 29,493,196 (GRCm39)	T838I	probably benign	Het
Krtap26-1	A	T	16: 88,444,108 (GRCm39)	V171E	possibly damaging	Het
Lck	G	T	4: 129,442,765 (GRCm39)	N452K	possibly damaging	Het
Madd	A	G	2: 90,990,673 (GRCm39)	L1134S	probably damaging	Het
Mafk	T	C	5: 139,786,248 (GRCm39)	S149P	probably damaging	Het
Man1c1	T	C	4: 134,430,500 (GRCm39)	D94G	probably benign	Het
Me2	T	A	18: 73,934,930 (GRCm39)	M38L	probably benign	Het
Muc2	A	C	7: 141,306,082 (GRCm39)	D257A	probably damaging	Het
Myh11	T	C	16: 14,018,566 (GRCm39)	K1927E	probably damaging	Het
Naaladl1	C	T	19: 6,158,920 (GRCm39)	P324S	probably damaging	Het
Ndufa10	T	C	1: 92,379,824 (GRCm39)	E303G	probably benign	Het
Nedd1	C	T	10: 92,555,444 (GRCm39)	V14I	probably benign	Het
Nwd1	T	G	8: 73,393,958 (GRCm39)	V407G	probably damaging	Het
Or2h15	A	C	17: 38,441,748 (GRCm39)	C112G	probably damaging	Het
Or4b1d	T	A	2: 89,968,593 (GRCm39)	K297*	probably null	Het
Or4k15c	T	C	14: 50,321,476 (GRCm39)	I221V	probably benign	Het
Or5w13	T	A	2: 87,524,104 (GRCm39)	T41S	probably benign	Het
Or7g29	A	G	9: 19,286,694 (GRCm39)	L161P	probably damaging	Het
Pgrmc2	T	C	3: 41,024,840 (GRCm39)	D144G	probably damaging	Het
Ppp3cb	T	C	14: 20,551,583 (GRCm39)	N516S	probably benign	Het
Pramel27	T	C	4: 143,579,530 (GRCm39)	S372P	probably damaging	Het
Prelp	A	G	1: 133,842,485 (GRCm39)	M220T	probably damaging	Het
Prss36	A	G	7: 127,534,787 (GRCm39)	W465R	probably damaging	Het
Pth2r	C	A	1: 65,375,920 (GRCm39)	F59L	probably benign	Het
Rab20	C	T	8: 11,504,485 (GRCm39)	G72R	probably damaging	Het
Rab4a	G	T	8: 124,555,769 (GRCm39)	G49W	probably damaging	Het
Rad9a	G	A	19: 4,250,560 (GRCm39)	R85C	probably damaging	Het
Rhox2c	A	C	X: 36,635,351 (GRCm39)	Q4H	probably benign	Het
Rock1	A	T	18: 10,136,152 (GRCm39)	Y178*	probably null	Het
Scaf8	C	A	17: 3,247,679 (GRCm39)	L1001I	probably damaging	Het
Sema3b	G	A	9: 107,482,201 (GRCm39)	P26S	probably benign	Het
Sncaip	A	C	18: 53,039,629 (GRCm39)	T548P	probably benign	Het
Stpg2	C	T	3: 139,023,177 (GRCm39)	P398S	possibly damaging	Het
Stpg3	A	C	2: 25,103,309 (GRCm39)	V260G	probably damaging	Het
Tbc1d9	T	A	8: 83,960,875 (GRCm39)	F242I	probably damaging	Het
Tnks1bp1	G	A	2: 84,902,066 (GRCm39)	R992Q	probably damaging	Het
Tom1l1	T	G	11: 90,537,675 (GRCm39)	H394P	possibly damaging	Het
Topors	T	G	4: 40,261,442 (GRCm39)	N614T	possibly damaging	Het
Trank1	A	T	9: 111,221,129 (GRCm39)	Q2622L	probably benign	Het
Trub2	A	G	2: 29,668,858 (GRCm39)	S186P	probably damaging	Het
Unc13c	T	A	9: 73,479,636 (GRCm39)	H1756L	probably benign	Het
Vmn1r9	A	T	6: 57,048,314 (GRCm39)	I130F	probably benign	Het
Wdr72	A	T	9: 74,086,837 (GRCm39)	I602F	probably damaging	Het
Zfand3	T	A	17: 30,354,362 (GRCm39)	F60I	possibly damaging	Het
Zfp946	G	A	17: 22,674,692 (GRCm39)	G482E	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
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
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'- TCAGACCTTGGTACACACAGAC -3'
(R):5'- TTTCTCAGAGCTCTGGCAAG -3'

Sequencing Primer
(F):5'- TTGGTACACACAGACCCAGTTTC -3'
(R):5'- TTCTCAGAGCTCTGGCAAGTAAGG -3'

Posted On

2015-10-21