Mutagenetix > Incidental Mutation

Incidental Mutation 'R7536:Slc13a1'

583590

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

045608-MU

Accession Numbers

Essential gene?

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

Stock #

R7536 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24088282-24168091 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24100330 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 384 (D384E)

Ref Sequence

ENSEMBL: ENSMUSP00000031713 (fasta)

Gene Model

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

AlphaFold

Q9JHI4

Predicted Effect

probably damaging
Transcript: ENSMUST00000031713
AA Change: D384E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000031713
Gene: ENSMUSG00000029700
AA Change: D384E

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acta2	G	A	19: 34,229,931 (GRCm39)	T8I	probably benign	Het
AI597479	C	G	1: 43,150,505 (GRCm39)	A205G	possibly damaging	Het
Akr1c14	T	A	13: 4,113,690 (GRCm39)	V74E	probably damaging	Het
Armh4	G	T	14: 50,011,703 (GRCm39)		probably null	Het
Bbs9	A	T	9: 22,582,096 (GRCm39)	Q596L	probably damaging	Het
Bub3	A	G	7: 131,170,432 (GRCm39)	D318G	probably damaging	Het
Cela1	A	G	15: 100,573,245 (GRCm39)	V248A	probably damaging	Het
Cer1	C	A	4: 82,803,205 (GRCm39)	R39L	probably benign	Het
Clec16a	A	G	16: 10,456,708 (GRCm39)	T624A	possibly damaging	Het
Coro1c	C	A	5: 113,983,350 (GRCm39)	G393W	probably damaging	Het
Crym	A	G	7: 119,800,331 (GRCm39)	L97P	probably damaging	Het
Cyp2a5	T	G	7: 26,539,903 (GRCm39)	L317R	probably damaging	Het
Cyp2j6	C	A	4: 96,423,774 (GRCm39)	G198V	probably damaging	Het
Dnajb6	A	G	5: 29,962,804 (GRCm39)	E238G	possibly damaging	Het
Dnhd1	C	A	7: 105,358,768 (GRCm39)	T3419K	probably damaging	Het
Dpep3	A	T	8: 106,704,032 (GRCm39)	I262K	probably damaging	Het
Dscam	T	G	16: 96,442,226 (GRCm39)		probably null	Het
Farsb	A	G	1: 78,420,391 (GRCm39)	V500A	possibly damaging	Het
Fbxl20	A	T	11: 97,986,209 (GRCm39)	C136*	probably null	Het
Fbxo43	G	T	15: 36,161,997 (GRCm39)	D403E	probably benign	Het
Frem1	A	G	4: 82,874,432 (GRCm39)	S1397P	probably damaging	Het
Fut8	A	G	12: 77,521,852 (GRCm39)	Y497C	probably damaging	Het
Gbp3	A	T	3: 142,272,156 (GRCm39)	R219S	probably damaging	Het
Gm14295	T	A	2: 176,502,722 (GRCm39)	H737Q	possibly damaging	Het
Gpr89	C	A	3: 96,798,209 (GRCm39)	R149L	probably damaging	Het
Greb1	A	T	12: 16,732,186 (GRCm39)	Y1592N	probably damaging	Het
Gria4	A	C	9: 4,464,298 (GRCm39)	Y555D	probably damaging	Het
Hspa1b	T	A	17: 35,177,851 (GRCm39)	T45S	possibly damaging	Het
Kif5b	A	T	18: 6,216,235 (GRCm39)	N571K	probably benign	Het
Mapkbp1	T	A	2: 119,849,066 (GRCm39)	M694K	probably damaging	Het
Med24	G	A	11: 98,603,447 (GRCm39)	H439Y	possibly damaging	Het
Mgl2	G	T	11: 70,027,833 (GRCm39)	R347L	probably benign	Het
Mms22l	T	A	4: 24,581,240 (GRCm39)	L850Q	probably damaging	Het
Mrpl51	T	C	6: 125,169,530 (GRCm39)	V44A	possibly damaging	Het
Mylk3	T	C	8: 86,080,233 (GRCm39)	I485V	probably benign	Het
Or10ag54	C	T	2: 87,099,943 (GRCm39)	Q273*	probably null	Het
Or7e174	C	A	9: 20,012,826 (GRCm39)	T257K	probably damaging	Het
Pde4dip	A	G	3: 97,664,560 (GRCm39)	L434P	probably damaging	Het
Pla2g4a	T	C	1: 149,755,768 (GRCm39)	Y223C	probably damaging	Het
Plcl1	C	T	1: 55,752,640 (GRCm39)	Q995*	probably null	Het
Pls1	C	T	9: 95,644,110 (GRCm39)	C462Y	probably damaging	Het
Ppp6r3	T	C	19: 3,557,341 (GRCm39)	E249G	possibly damaging	Het
Prb1a	T	A	6: 132,184,184 (GRCm39)	N483I	unknown	Het
R3hdm1	A	G	1: 128,109,948 (GRCm39)		probably null	Het
Rasgrp3	T	C	17: 75,821,128 (GRCm39)	F445S	probably damaging	Het
Rnf39	G	T	17: 37,254,009 (GRCm39)	L10F	probably damaging	Het
Rnh1	T	C	7: 140,740,725 (GRCm39)	D410G	possibly damaging	Het
Sfi1	ACA	ACATCTTCCCAAAGCCAGTCA	11: 3,103,382 (GRCm39)		probably benign	Het
Sh3bp2	A	G	5: 34,700,901 (GRCm39)	T35A	probably benign	Het
Skint6	T	A	4: 112,668,744 (GRCm39)		probably null	Het
Slc27a6	A	G	18: 58,689,698 (GRCm39)	T55A	probably damaging	Het
Slc46a2	G	A	4: 59,914,141 (GRCm39)	Q261*	probably null	Het
Spata31d1e	C	T	13: 59,889,556 (GRCm39)	V755M	probably damaging	Het
St7	C	G	6: 17,886,019 (GRCm39)	P327R	probably damaging	Het
Stx1a	T	C	5: 135,078,694 (GRCm39)	I268T	probably damaging	Het
Tcof1	G	C	18: 60,962,123 (GRCm39)	A702G	possibly damaging	Het
Tgm7	T	A	2: 120,926,878 (GRCm39)	R424*	probably null	Het
Tmem144	A	T	3: 79,734,964 (GRCm39)	N151K	probably benign	Het
Tmem145	T	C	7: 25,007,294 (GRCm39)	S171P	probably damaging	Het
Traf2	A	G	2: 25,427,118 (GRCm39)	Y78H	possibly damaging	Het
Tsc22d1	A	G	14: 76,742,203 (GRCm39)	Y16C	probably benign	Het
Ttc39b	A	T	4: 83,158,215 (GRCm39)	Y503*	probably null	Het
Ttn	T	C	2: 76,547,681 (GRCm39)	D32163G	probably benign	Het
Uba6	A	T	5: 86,272,191 (GRCm39)	S833T	probably benign	Het
Wdtc1	A	G	4: 133,022,561 (GRCm39)	L595P	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
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
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'- CTGTAGGTGGAGGCAAACTC -3'
(R):5'- TGGTCTTTGCAAGTTACTTCAC -3'

Sequencing Primer
(F):5'- CTCCAGCTGAGTGAGGAAC -3'
(R):5'- TTGCAAGTTACTTCACTTTACTGG -3'

Posted On

2019-10-17