Mutagenetix > Incidental Mutation

Incidental Mutation 'R1766:Slc26a1'

194360

Institutional Source

Beutler Lab

Gene Symbol

Slc26a1

Ensembl Gene

ENSMUSG00000046959

Gene Name

solute carrier family 26 (sulfate transporter), member 1

Synonyms

Sat1

MMRRC Submission

039798-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.435) question?

Stock #

R1766 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

108817744-108823435 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 108819658 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 514 (R514W)

Ref Sequence

ENSEMBL: ENSMUSP00000131282 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051757] [ENSMUST00000071650] [ENSMUST00000112563] [ENSMUST00000119212] [ENSMUST00000119270] [ENSMUST00000132708] [ENSMUST00000136227] [ENSMUST00000163328] [ENSMUST00000140620] [ENSMUST00000139734]

AlphaFold

P58735

Predicted Effect

probably damaging
Transcript: ENSMUST00000051757
AA Change: R514W

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

SMART Domains

Protein: ENSMUSP00000051561
Gene: ENSMUSG00000046959
AA Change: R514W

Domain	Start	End	E-Value	Type
Pfam:Sulfate_tra_GLY	54	137	4.9e-31	PFAM
Pfam:Sulfate_transp	200	478	3.1e-84	PFAM
Pfam:STAS	536	686	9.5e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000071650

SMART Domains

Protein: ENSMUSP00000071577
Gene: ENSMUSG00000033540

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_39	22	542	1.4e-223	PFAM
SCOP:d1bpv__	546	643	3e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000112563

SMART Domains

Protein: ENSMUSP00000108182
Gene: ENSMUSG00000033540

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_39	22	542	2.1e-224	PFAM
SCOP:d1bpv__	546	643	3e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000119212

SMART Domains

Protein: ENSMUSP00000113190
Gene: ENSMUSG00000033540

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:Glyco_hydro_39	48	495	2.4e-193	PFAM
SCOP:d1bpv__	499	596	3e-8	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000119270
AA Change: R530W

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

SMART Domains

Protein: ENSMUSP00000113185
Gene: ENSMUSG00000046959
AA Change: R530W

Domain	Start	End	E-Value	Type
Pfam:Sulfate_transp	85	498	7.3e-135	PFAM
Pfam:STAS	552	702	1.1e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000132708

SMART Domains

Protein: ENSMUSP00000122837
Gene: ENSMUSG00000004815

Domain	Start	End	E-Value	Type
Blast:C1	26	56	2e-13	BLAST
low complexity region	68	81	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000136227

SMART Domains

Protein: ENSMUSP00000116540
Gene: ENSMUSG00000046959

Domain	Start	End	E-Value	Type
Pfam:Sulfate_tra_GLY	54	137	3.4e-31	PFAM
Pfam:Sulfate_transp	200	416	2.2e-62	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000163328
AA Change: R514W

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

SMART Domains

Protein: ENSMUSP00000131282
Gene: ENSMUSG00000046959
AA Change: R514W

Domain	Start	End	E-Value	Type
Pfam:Sulfate_tra_GLY	54	137	4.9e-31	PFAM
Pfam:Sulfate_transp	200	478	3.1e-84	PFAM
Pfam:STAS	536	686	9.5e-29	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159464

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151445

Predicted Effect

probably benign
Transcript: ENSMUST00000140620

SMART Domains

Protein: ENSMUSP00000119624
Gene: ENSMUSG00000033540

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_39	22	150	3.4e-52	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000139734

SMART Domains

Protein: ENSMUSP00000117694
Gene: ENSMUSG00000033540

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_39	22	199	6.8e-80	PFAM
low complexity region	235	260	N/A	INTRINSIC

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of a family of sulfate/anion transporter genes. Family members are well conserved in their genomic (number and size of exons) and protein (aa length among species) structures, but have markedly different tissue expression patterns. This gene is primarily expressed in the liver, pancreas, and brain. Three splice variants that encode different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene develop kidney stones and have an increased susceptibility to acetaminophen-induced liver damage. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg1l	T	C	10: 42,330,491 (GRCm39)	T59A	probably benign	Het
Ankrd17	T	A	5: 90,412,656 (GRCm39)	M1223L	possibly damaging	Het
Ankrd24	G	A	10: 81,474,472 (GRCm39)	S68N	probably benign	Het
Arhgap31	A	G	16: 38,445,952 (GRCm39)	I131T	probably damaging	Het
Arhgef10	A	T	8: 15,029,836 (GRCm39)	I874F	probably damaging	Het
Arl5b	T	C	2: 15,074,648 (GRCm39)	V43A	probably benign	Het
BC051665	G	A	13: 60,932,854 (GRCm39)	H36Y	probably benign	Het
Cdh9	A	G	15: 16,778,392 (GRCm39)	D69G	probably damaging	Het
Chd6	G	A	2: 160,808,559 (GRCm39)	L1552F	probably damaging	Het
Chrd	A	G	16: 20,556,191 (GRCm39)	H584R	probably damaging	Het
Dnhd1	G	A	7: 105,343,179 (GRCm39)	V1508I	possibly damaging	Het
Dpy19l4	C	T	4: 11,303,360 (GRCm39)	G187D	probably damaging	Het
Dync2h1	T	C	9: 7,015,526 (GRCm39)		probably null	Het
Ehbp1l1	A	G	19: 5,766,434 (GRCm39)	V1303A	probably damaging	Het
Eif4e1b	G	A	13: 54,934,704 (GRCm39)	E182K	probably damaging	Het
Fam170b	A	T	14: 32,557,843 (GRCm39)	Q226L	possibly damaging	Het
Fam193a	C	T	5: 34,619,475 (GRCm39)	P760L	probably damaging	Het
Gabra5	A	T	7: 57,157,796 (GRCm39)	L6H	probably benign	Het
Gabrq	G	A	X: 71,876,989 (GRCm39)	R161H	probably damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,784 (GRCm39)		probably null	Het
Gm7334	T	A	17: 51,006,006 (GRCm39)	D97E	probably damaging	Het
Gpsm1	G	A	2: 26,215,395 (GRCm39)	A286T	probably damaging	Het
Gsta4	C	A	9: 78,111,611 (GRCm39)	Y79*	probably null	Het
Hcn1	T	A	13: 117,793,270 (GRCm39)	V174D	probably benign	Het
Hic1	G	T	11: 75,056,620 (GRCm39)	C756*	probably null	Het
Hivep3	C	T	4: 119,953,868 (GRCm39)	T728I	probably benign	Het
Ice1	T	C	13: 70,752,561 (GRCm39)	E1175G	possibly damaging	Het
Igsf3	T	A	3: 101,338,598 (GRCm39)	L304Q	probably damaging	Het
Kpna6	T	C	4: 129,551,235 (GRCm39)	D90G	probably benign	Het
Krt73	C	T	15: 101,702,363 (GRCm39)	G500D	probably damaging	Het
Lama3	A	G	18: 12,535,119 (GRCm39)	K156E	probably damaging	Het
Mdm2	T	C	10: 117,531,927 (GRCm39)	K94E	probably damaging	Het
Mitf	T	C	6: 97,918,060 (GRCm39)	S26P	probably damaging	Het
Myh4	C	A	11: 67,147,121 (GRCm39)	Q1589K	possibly damaging	Het
Nlrp4c	T	A	7: 6,076,113 (GRCm39)	V671E	probably benign	Het
Nop9	C	T	14: 55,989,591 (GRCm39)	A407V	possibly damaging	Het
Nrap	T	A	19: 56,323,474 (GRCm39)	H1366L	probably damaging	Het
Ntrk1	A	T	3: 87,685,825 (GRCm39)	C766S	probably damaging	Het
Oog3	C	T	4: 143,885,692 (GRCm39)	G302D	possibly damaging	Het
Or4q3	T	C	14: 50,583,677 (GRCm39)	Y43C	probably damaging	Het
Or52z15	A	G	7: 103,332,068 (GRCm39)	N38D	possibly damaging	Het
Or6c38	T	C	10: 128,929,616 (GRCm39)	I76V	probably benign	Het
Or7g27	A	G	9: 19,250,154 (GRCm39)	T133A	probably benign	Het
Pdzph1	C	T	17: 59,280,747 (GRCm39)	V512I	probably benign	Het
Phf2	A	C	13: 48,973,033 (GRCm39)	S408A	unknown	Het
Pigk	T	G	3: 152,445,793 (GRCm39)	L135V	probably damaging	Het
Ppp2ca	C	A	11: 52,012,773 (GRCm39)	T301N	probably benign	Het
Ppp4r3a	A	G	12: 101,024,741 (GRCm39)	S253P	probably damaging	Het
Ptgfrn	A	T	3: 100,957,438 (GRCm39)	I712N	probably benign	Het
Rapgef2	A	T	3: 79,000,010 (GRCm39)	D579E	probably damaging	Het
Rims2	T	A	15: 39,325,976 (GRCm39)	D769E	probably damaging	Het
Rptor	T	A	11: 119,615,887 (GRCm39)	C134S	probably damaging	Het
S100a1	A	G	3: 90,418,599 (GRCm39)	F72L	probably damaging	Het
Scube1	T	A	15: 83,606,146 (GRCm39)	D42V	probably damaging	Het
Sh3glb1	T	C	3: 144,418,446 (GRCm39)	D39G	probably damaging	Het
Sh3pxd2a	T	C	19: 47,261,689 (GRCm39)	T397A	probably benign	Het
Siglece	G	A	7: 43,300,956 (GRCm39)	T453M	probably damaging	Het
Slc4a8	T	C	15: 100,685,093 (GRCm39)	V156A	probably benign	Het
Smchd1	A	T	17: 71,698,374 (GRCm39)	V1134E	probably damaging	Het
Sorbs2	A	G	8: 46,223,613 (GRCm39)	Y222C	probably damaging	Het
Sorcs3	G	T	19: 48,592,314 (GRCm39)	W326C	possibly damaging	Het
Taf2	A	G	15: 54,934,793 (GRCm39)	V45A	probably benign	Het
Tex16	T	C	X: 111,150,782 (GRCm39)	Y22H	probably benign	Het
Tiparp	A	T	3: 65,439,470 (GRCm39)	H80L	probably damaging	Het
Tmem71	T	A	15: 66,413,548 (GRCm39)	T175S	probably benign	Het
Tmem87b	T	A	2: 128,681,090 (GRCm39)	V338D	probably damaging	Het
Trdn	A	G	10: 33,240,004 (GRCm39)	K445R	probably damaging	Het
Trim14	A	G	4: 46,522,039 (GRCm39)	F213L	probably benign	Het
Tubgcp5	T	A	7: 55,464,768 (GRCm39)	S550T	probably benign	Het
Tufm	A	G	7: 126,089,644 (GRCm39)	D446G	probably benign	Het
Vipr1	A	T	9: 121,490,485 (GRCm39)	Y177F	possibly damaging	Het
Vmn2r116	A	C	17: 23,620,740 (GRCm39)	I825L	probably damaging	Het
Vmn2r12	G	T	5: 109,239,910 (GRCm39)	Q218K	probably damaging	Het
Vwa7	G	T	17: 35,242,919 (GRCm39)		probably null	Het
Ywhae	T	C	11: 75,646,491 (GRCm39)	V119A	probably damaging	Het
Zfand5	A	G	19: 21,257,888 (GRCm39)	R199G	probably damaging	Het
Zfp810	T	C	9: 22,189,828 (GRCm39)	Y360C	possibly damaging	Het
Zrsr2-ps1	A	G	11: 22,923,637 (GRCm39)	D137G	probably benign	Het

Other mutations in Slc26a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01082:Slc26a1	APN	5	108,819,744 (GRCm39)	missense	possibly damaging	0.75
IGL02566:Slc26a1	APN	5	108,821,665 (GRCm39)	missense	probably damaging	1.00
IGL03347:Slc26a1	APN	5	108,821,676 (GRCm39)	missense	probably damaging	1.00
R0744:Slc26a1	UTSW	5	108,821,389 (GRCm39)	missense	probably benign	0.01
R0833:Slc26a1	UTSW	5	108,821,389 (GRCm39)	missense	probably benign	0.01
R1518:Slc26a1	UTSW	5	108,819,740 (GRCm39)	nonsense	probably null
R1726:Slc26a1	UTSW	5	108,821,541 (GRCm39)	missense	probably damaging	1.00
R1975:Slc26a1	UTSW	5	108,820,338 (GRCm39)	missense	probably damaging	1.00
R3953:Slc26a1	UTSW	5	108,821,448 (GRCm39)	missense	possibly damaging	0.85
R3954:Slc26a1	UTSW	5	108,821,448 (GRCm39)	missense	possibly damaging	0.85
R3955:Slc26a1	UTSW	5	108,821,448 (GRCm39)	missense	possibly damaging	0.85
R3969:Slc26a1	UTSW	5	108,821,818 (GRCm39)	missense	probably benign
R4259:Slc26a1	UTSW	5	108,820,496 (GRCm39)	missense	probably damaging	1.00
R5875:Slc26a1	UTSW	5	108,819,903 (GRCm39)	missense	probably damaging	1.00
R6036:Slc26a1	UTSW	5	108,821,436 (GRCm39)	missense	probably damaging	1.00
R6036:Slc26a1	UTSW	5	108,821,436 (GRCm39)	missense	probably damaging	1.00
R6057:Slc26a1	UTSW	5	108,821,631 (GRCm39)	missense	probably damaging	1.00
R6088:Slc26a1	UTSW	5	108,821,872 (GRCm39)	missense	possibly damaging	0.84
R6766:Slc26a1	UTSW	5	108,819,773 (GRCm39)	missense	probably damaging	0.99
R7230:Slc26a1	UTSW	5	108,819,611 (GRCm39)	missense	probably damaging	1.00
R7294:Slc26a1	UTSW	5	108,821,698 (GRCm39)	missense	possibly damaging	0.90
R7580:Slc26a1	UTSW	5	108,819,735 (GRCm39)	missense	probably damaging	1.00
R8396:Slc26a1	UTSW	5	108,821,715 (GRCm39)	missense	probably benign
R8833:Slc26a1	UTSW	5	108,820,182 (GRCm39)	missense	probably benign	0.02
R9556:Slc26a1	UTSW	5	108,820,404 (GRCm39)	missense
R9569:Slc26a1	UTSW	5	108,819,460 (GRCm39)	missense	probably benign
Z1176:Slc26a1	UTSW	5	108,820,297 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GATCCTTGCCATCGACAAGACTCC -3'
(R):5'- GCTTGTATCATTGTTGTCAGCCTGC -3'

Sequencing Primer
(F):5'- ATCGACAAGACTCCTGTTACTG -3'
(R):5'- AAGGTGAAGGATCTCCCACA -3'

Posted On

2014-05-23