Mutagenetix > Incidental Mutation

Incidental Mutation 'R1249:Slc13a1'

151699

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

039316-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.138) question?

Stock #

R1249 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24088282-24168091 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 24133649 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 201 (P201Q)

Ref Sequence

ENSEMBL: ENSMUSP00000031713 (fasta)

Gene Model

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

AlphaFold

Q9JHI4

Predicted Effect

probably benign
Transcript: ENSMUST00000031713
AA Change: P201Q

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000031713
Gene: ENSMUSG00000029700
AA Change: P201Q

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: ENSMUST00000175985

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176692

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.3%

Validation Efficiency

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: 13 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp8b2	A	C	3: 89,855,111 (GRCm39)	N586K	possibly damaging	Het
Clca3a2	T	C	3: 144,508,765 (GRCm39)	R685G	possibly damaging	Het
Cpxm2	A	G	7: 131,730,079 (GRCm39)		probably null	Het
Dsg4	A	T	18: 20,579,929 (GRCm39)	R45*	probably null	Het
Lama4	A	G	10: 38,951,474 (GRCm39)	E1073G	probably damaging	Het
Mug1	A	G	6: 121,826,420 (GRCm39)	I167V	probably benign	Het
Or4e2	G	A	14: 52,687,979 (GRCm39)	M36I	probably benign	Het
Prox1	C	T	1: 189,879,258 (GRCm39)	R640H	possibly damaging	Het
Rad50	T	A	11: 53,582,964 (GRCm39)	E476D	probably damaging	Het
Sars1	A	G	3: 108,343,251 (GRCm39)	V80A	probably benign	Het
Setd2	T	A	9: 110,402,948 (GRCm39)	M1863K	probably damaging	Het
Taok1	A	C	11: 77,462,463 (GRCm39)	W209G	probably damaging	Het
Vmn1r217	T	A	13: 23,298,818 (GRCm39)	H28L	probably benign	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
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
R4389:Slc13a1	UTSW	6	24,092,397 (GRCm39)	splice site	probably null
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'- AAACCATCGTACCACACTTGGACTTTT -3'
(R):5'- TCTGATGAACTGCTTGGATGCAATGAA -3'

Sequencing Primer
(F):5'- ATAGGCATGTATCCAGTTAGGC -3'
(R):5'- CTGCTTGGATGCAATGAAAGATG -3'

Posted On

2014-01-29