Mutagenetix > Incidental Mutation

Incidental Mutation 'R6526:Slc13a1'

521839

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

044652-MU

Accession Numbers

Essential gene?

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

Stock #

R6526 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24088282-24168091 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 24097611 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 439 (G439S)

Ref Sequence

ENSEMBL: ENSMUSP00000031713 (fasta)

Gene Model

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

AlphaFold

Q9JHI4

Predicted Effect

probably damaging
Transcript: ENSMUST00000031713
AA Change: G439S

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000031713
Gene: ENSMUSG00000029700
AA Change: G439S

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

0.3705

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.5%

Validation Efficiency

100% (72/72)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamp	A	G	1: 74,323,331 (GRCm39)		probably null	Het
Abcc3	C	T	11: 94,250,198 (GRCm39)	G975D	probably benign	Het
Abhd13	G	A	8: 10,037,777 (GRCm39)	G125S	probably damaging	Het
Ache	T	A	5: 137,288,906 (GRCm39)	L204Q	probably damaging	Het
Acnat2	A	G	4: 49,383,497 (GRCm39)	S19P	probably benign	Het
Adprh	A	G	16: 38,267,638 (GRCm39)	Y216H	probably benign	Het
Anapc1	T	A	2: 128,514,055 (GRCm39)	K429*	probably null	Het
Anxa13	T	C	15: 58,208,353 (GRCm39)		noncoding transcript	Het
Aprt	A	C	8: 123,303,555 (GRCm39)	L6W	probably damaging	Het
Arhgef15	T	C	11: 68,840,820 (GRCm39)	T569A	probably damaging	Het
Atp11a	T	C	8: 12,914,999 (GRCm39)	L1139P	probably benign	Het
Atp2b4	A	G	1: 133,639,467 (GRCm39)	S1136P	probably damaging	Het
B9d1	T	A	11: 61,399,923 (GRCm39)	Y90*	probably null	Het
Btla	G	A	16: 45,059,457 (GRCm39)	A54T	probably damaging	Het
Cd63	T	C	10: 128,747,358 (GRCm39)	V35A	probably benign	Het
Chek2	T	C	5: 110,996,556 (GRCm39)	F173L	probably damaging	Het
Cntnap3	T	A	13: 64,929,702 (GRCm39)	N499I	possibly damaging	Het
Cog4	T	C	8: 111,608,418 (GRCm39)	L738P	probably damaging	Het
Cops6	T	C	5: 138,162,162 (GRCm39)		probably null	Het
Cpeb1	T	A	7: 81,011,417 (GRCm39)	I175F	probably benign	Het
Cyp3a16	C	T	5: 145,392,705 (GRCm39)	D174N	probably benign	Het
Dnah6	T	G	6: 73,051,687 (GRCm39)	I2984L	probably benign	Het
Dock10	A	T	1: 80,564,068 (GRCm39)	I540N	probably damaging	Het
Elf5	A	G	2: 103,269,578 (GRCm39)	Y53C	probably damaging	Het
Elmod2	T	C	8: 84,046,086 (GRCm39)	T164A	probably damaging	Het
Elp1	T	C	4: 56,798,812 (GRCm39)		probably null	Het
Epn3	A	G	11: 94,385,758 (GRCm39)		probably null	Het
Fam151a	A	T	4: 106,591,201 (GRCm39)	I15F	possibly damaging	Het
Gm11115	T	A	5: 88,301,909 (GRCm39)		probably null	Het
Golga3	T	A	5: 110,352,761 (GRCm39)	I884N	probably damaging	Het
Gria2	A	T	3: 80,599,776 (GRCm39)	F703I	probably damaging	Het
Gtf2h3	C	T	5: 124,722,360 (GRCm39)	T121I	probably benign	Het
Gtpbp2	A	T	17: 46,475,037 (GRCm39)		probably null	Het
Herc2	T	C	7: 55,807,078 (GRCm39)	S2419P	probably damaging	Het
Inpp5d	T	C	1: 87,603,972 (GRCm39)		probably benign	Het
Kdm2b	C	A	5: 123,099,532 (GRCm39)	V136F	probably damaging	Het
Klra2	T	A	6: 131,198,839 (GRCm39)	D234V	probably benign	Het
Lct	A	T	1: 128,228,215 (GRCm39)	S1093T	probably benign	Het
Marchf9	A	G	10: 126,892,558 (GRCm39)	L310P	probably benign	Het
Morc1	G	T	16: 48,407,487 (GRCm39)	E668*	probably null	Het
Nbas	A	T	12: 13,455,426 (GRCm39)	L1213F	probably damaging	Het
Neto1	A	G	18: 86,516,873 (GRCm39)	T397A	possibly damaging	Het
Oit3	A	G	10: 59,265,462 (GRCm39)	C268R	probably damaging	Het
Or5p55	A	G	7: 107,566,669 (GRCm39)	T22A	probably benign	Het
Pcx	T	C	19: 4,654,523 (GRCm39)	F312L	probably benign	Het
Pitx2	T	C	3: 129,008,432 (GRCm39)		probably null	Het
Pkhd1l1	G	A	15: 44,361,485 (GRCm39)		probably null	Het
Polr1a	C	A	6: 71,906,427 (GRCm39)	D414E	possibly damaging	Het
Pramel27	A	G	4: 143,579,384 (GRCm39)	D323G	probably damaging	Het
Prkch	T	C	12: 73,749,549 (GRCm39)	Y381H	probably damaging	Het
Ptger3	T	A	3: 157,273,139 (GRCm39)	V162E	probably damaging	Het
Ptgr2	T	G	12: 84,360,726 (GRCm39)	M332R	probably damaging	Het
Ptprq	G	T	10: 107,378,514 (GRCm39)	S2009*	probably null	Het
Pwwp3a	A	G	10: 80,068,113 (GRCm39)	T86A	probably benign	Het
Rangrf	C	T	11: 68,864,514 (GRCm39)	G11R	probably damaging	Het
Rbl2	A	T	8: 91,823,467 (GRCm39)	Q465L	probably benign	Het
Rhbdd1	A	T	1: 82,318,380 (GRCm39)	M88L	probably benign	Het
Setd2	G	A	9: 110,361,785 (GRCm39)	M13I	probably benign	Het
Sirpb1a	T	C	3: 15,444,080 (GRCm39)	Y384C	probably damaging	Het
Slc41a1	T	A	1: 131,768,887 (GRCm39)	I239N	probably damaging	Het
Slit2	T	A	5: 48,461,509 (GRCm39)	C1502S	probably damaging	Het
Slit3	G	A	11: 35,552,119 (GRCm39)	E888K	probably benign	Het
Srrm3	G	T	5: 135,864,088 (GRCm39)	R62L	probably damaging	Het
Synm	A	G	7: 67,385,331 (GRCm39)	V777A	possibly damaging	Het
Trmt13	T	A	3: 116,385,864 (GRCm39)	N31I	probably damaging	Het
Trpm8	G	A	1: 88,289,720 (GRCm39)	E893K	probably damaging	Het
Uqcc1	A	G	2: 155,693,343 (GRCm39)	F197S	probably damaging	Het
Vmn1r67	T	A	7: 10,181,598 (GRCm39)	N287K	probably benign	Het
Vmn2r44	A	T	7: 8,381,098 (GRCm39)	M265K	probably benign	Het
Wwc1	C	T	11: 35,744,264 (GRCm39)	E853K	probably benign	Het
Xdh	C	A	17: 74,207,546 (GRCm39)	C937F	probably damaging	Het
Zfp846	T	A	9: 20,505,167 (GRCm39)	N342K	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
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
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
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'- CTTTTGACATTCCTGAACACACATC -3'
(R):5'- TAGTCCATGTCAAATCTCTGCC -3'

Sequencing Primer
(F):5'- CTTGAACTATGAACACACATCATCTG -3'
(R):5'- CTCTGCCTTGAAAACAGTATCAG -3'

Posted On

2018-06-06