Mutagenetix > Incidental Mutation

Incidental Mutation 'R4389:Slc13a1'

326332

Institutional Source

Beutler Lab

Gene Symbol

Slc13a1

Ensembl Gene

ENSMUSG00000029700

Gene Name

solute carrier family 13 (sodium/sulfate symporters), member 1

Synonyms

Nas1, NaSi-1

MMRRC Submission

041126-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

R4389 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24088282-24168091 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 24092397 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000031713 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031713]

AlphaFold

Q9JHI4

Predicted Effect

probably null
Transcript: ENSMUST00000031713

SMART Domains

Protein: ENSMUSP00000031713
Gene: ENSMUSG00000029700

Domain	Start	End	E-Value	Type
Pfam:Na_sulph_symp	5	578	9.6e-101	PFAM
Pfam:CitMHS	45	168	3.9e-14	PFAM
Pfam:CitMHS	226	521	3.9e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174594

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.6%
3x: 98.7%
10x: 96.6%
20x: 92.6%

Validation Efficiency

87% (26/30)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an apical membrane Na(+)-sulfate cotransporter involved in sulfate homeostasis in the kidney. Defects in this gene lead to many pathophysiologic problems. [provided by RefSeq, May 2016]
PHENOTYPE: Homozygous mutant mice exhibit hyposulfatemia, growth retardation, reduced female fertility, and spontaneous clonic seizures. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	C	11: 9,247,878 (GRCm39)	T2542P	probably damaging	Het
Adprm	C	T	11: 66,929,019 (GRCm39)	R324K	probably benign	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Cd209b	A	G	8: 3,975,960 (GRCm39)	L67P	probably damaging	Het
Cfap54	T	A	10: 92,803,362 (GRCm39)	K1560M	probably benign	Het
Ctps1	T	C	4: 120,415,987 (GRCm39)	D212G	probably damaging	Het
Ercc6	T	A	14: 32,296,865 (GRCm39)	L1285*	probably null	Het
Gzma	G	T	13: 113,234,922 (GRCm39)		probably null	Het
Kng2	T	C	16: 22,843,618 (GRCm39)	I120M	possibly damaging	Het
Lhx3	C	T	2: 26,091,102 (GRCm39)		probably benign	Het
Mtfr1l	T	C	4: 134,259,953 (GRCm39)		probably benign	Het
Ndufb4	T	C	16: 37,468,032 (GRCm39)	N126S	probably benign	Het
Nlrp4e	A	G	7: 23,020,652 (GRCm39)	I380V	probably benign	Het
Nptn	A	G	9: 58,551,055 (GRCm39)	K361E	probably damaging	Het
Or5an1c	A	G	19: 12,218,503 (GRCm39)	V174A	probably damaging	Het
Orc2	T	C	1: 58,514,020 (GRCm39)	D332G	probably benign	Het
Pcdha4	T	C	18: 37,087,842 (GRCm39)	V675A	probably benign	Het
Rpl7a-ps3	G	A	15: 36,308,429 (GRCm39)		noncoding transcript	Het
Tec	A	G	5: 72,939,350 (GRCm39)	Y222H	probably benign	Het
Ttll2	T	A	17: 7,618,599 (GRCm39)	R443*	probably null	Het
Vmn1r66	A	T	7: 10,008,715 (GRCm39)	L106*	probably null	Het
Zfp189	A	G	4: 49,529,934 (GRCm39)	R346G	probably damaging	Het

Other mutations in Slc13a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00773:Slc13a1	APN	6	24,118,016 (GRCm39)	missense	possibly damaging	0.55
IGL01096:Slc13a1	APN	6	24,104,076 (GRCm39)	missense	probably damaging	0.97
IGL01788:Slc13a1	APN	6	24,134,371 (GRCm39)	missense	probably damaging	0.96
IGL02028:Slc13a1	APN	6	24,118,030 (GRCm39)	missense	probably benign	0.00
IGL02238:Slc13a1	APN	6	24,103,482 (GRCm39)	missense	probably benign	0.00
IGL02525:Slc13a1	APN	6	24,137,135 (GRCm39)	missense	probably damaging	1.00
IGL02741:Slc13a1	APN	6	24,150,707 (GRCm39)	critical splice donor site	probably null
IGL02894:Slc13a1	APN	6	24,137,041 (GRCm39)	splice site	probably benign
IGL03086:Slc13a1	APN	6	24,118,002 (GRCm39)	missense	probably damaging	1.00
Liliput	UTSW	6	24,108,194 (GRCm39)	missense	probably damaging	0.97
munchkin	UTSW	6	24,090,795 (GRCm39)	nonsense	probably null
R0294:Slc13a1	UTSW	6	24,090,779 (GRCm39)	missense	possibly damaging	0.79
R0419:Slc13a1	UTSW	6	24,100,292 (GRCm39)	missense	probably damaging	0.99
R1249:Slc13a1	UTSW	6	24,133,649 (GRCm39)	missense	probably benign	0.01
R1401:Slc13a1	UTSW	6	24,118,082 (GRCm39)	splice site	probably null
R1868:Slc13a1	UTSW	6	24,117,999 (GRCm39)	missense	probably damaging	1.00
R2191:Slc13a1	UTSW	6	24,134,396 (GRCm39)	missense	possibly damaging	0.71
R2940:Slc13a1	UTSW	6	24,090,779 (GRCm39)	missense	possibly damaging	0.79
R3740:Slc13a1	UTSW	6	24,134,476 (GRCm39)	missense	probably damaging	1.00
R4326:Slc13a1	UTSW	6	24,103,478 (GRCm39)	missense	probably benign	0.00
R4327:Slc13a1	UTSW	6	24,103,478 (GRCm39)	missense	probably benign	0.00
R4520:Slc13a1	UTSW	6	24,134,512 (GRCm39)	missense	probably benign	0.18
R4771:Slc13a1	UTSW	6	24,100,339 (GRCm39)	nonsense	probably null
R4883:Slc13a1	UTSW	6	24,134,356 (GRCm39)	missense	probably benign	0.01
R5133:Slc13a1	UTSW	6	24,103,428 (GRCm39)	missense	possibly damaging	0.95
R5213:Slc13a1	UTSW	6	24,108,158 (GRCm39)	missense	probably damaging	1.00
R5310:Slc13a1	UTSW	6	24,134,373 (GRCm39)	missense	probably benign	0.02
R5504:Slc13a1	UTSW	6	24,150,743 (GRCm39)	missense	possibly damaging	0.83
R5971:Slc13a1	UTSW	6	24,133,656 (GRCm39)	missense	probably benign	0.00
R6214:Slc13a1	UTSW	6	24,090,795 (GRCm39)	nonsense	probably null
R6215:Slc13a1	UTSW	6	24,090,795 (GRCm39)	nonsense	probably null
R6526:Slc13a1	UTSW	6	24,097,611 (GRCm39)	missense	probably damaging	0.97
R6562:Slc13a1	UTSW	6	24,150,792 (GRCm39)	missense	probably benign	0.35
R6573:Slc13a1	UTSW	6	24,137,094 (GRCm39)	missense	probably damaging	1.00
R6902:Slc13a1	UTSW	6	24,097,665 (GRCm39)	missense	possibly damaging	0.65
R7184:Slc13a1	UTSW	6	24,092,311 (GRCm39)	missense	probably damaging	0.99
R7536:Slc13a1	UTSW	6	24,100,330 (GRCm39)	missense	probably damaging	1.00
R7918:Slc13a1	UTSW	6	24,118,065 (GRCm39)	missense	probably benign	0.35
R8919:Slc13a1	UTSW	6	24,108,194 (GRCm39)	missense	probably damaging	0.97
R8971:Slc13a1	UTSW	6	24,090,785 (GRCm39)	missense	probably benign	0.30
R9151:Slc13a1	UTSW	6	24,097,662 (GRCm39)	missense	probably damaging	0.99
R9163:Slc13a1	UTSW	6	24,097,578 (GRCm39)	critical splice donor site	probably null
R9313:Slc13a1	UTSW	6	24,108,203 (GRCm39)	missense	probably benign	0.00
R9594:Slc13a1	UTSW	6	24,089,100 (GRCm39)	missense	probably damaging	0.98
R9755:Slc13a1	UTSW	6	24,134,407 (GRCm39)	missense	probably benign	0.01
U15987:Slc13a1	UTSW	6	24,133,656 (GRCm39)	missense	probably benign	0.00
Z1177:Slc13a1	UTSW	6	24,133,694 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACTCACCAAAGGAGATAATATTGGG -3'
(R):5'- GCCCTATAGTGCATCATGACTTAAG -3'

Sequencing Primer
(F):5'- TTGGGAACAGAATGGTAATGGTAGC -3'
(R):5'- TGCCTATCAAGTGCAAGGTC -3'

Posted On

2015-07-06