Mutagenetix > Incidental Mutation

Incidental Mutation 'R1518:Slc26a1'

167173

Institutional Source

Beutler Lab

Gene Symbol

Slc26a1

Ensembl Gene

ENSMUSG00000046959

Gene Name

solute carrier family 26 (sulfate transporter), member 1

Synonyms

Sat1

Accession Numbers

Essential gene?

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

Stock #

R1518 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

108817744-108823435 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 108819740 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 486 (C486*)

Ref Sequence

ENSEMBL: ENSMUSP00000131282 (fasta)

Gene Model

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

AlphaFold

P58735

Predicted Effect

probably null
Transcript: ENSMUST00000051757
AA Change: C486*

SMART Domains

Protein: ENSMUSP00000051561
Gene: ENSMUSG00000046959
AA Change: C486*

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 null
Transcript: ENSMUST00000119270
AA Change: C502*

SMART Domains

Protein: ENSMUSP00000113185
Gene: ENSMUSG00000046959
AA Change: C502*

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 null
Transcript: ENSMUST00000163328
AA Change: C486*

SMART Domains

Protein: ENSMUSP00000131282
Gene: ENSMUSG00000046959
AA Change: C486*

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: ENSMUST00000151445

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159464

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

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

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
Abcg4	T	A	9: 44,186,666 (GRCm39)	M493L	probably benign	Het
Abtb2	G	A	2: 103,539,629 (GRCm39)	V665I	probably benign	Het
Adamtsl1	C	G	4: 86,260,840 (GRCm39)	S1017W	probably damaging	Het
Aebp1	A	G	11: 5,821,469 (GRCm39)	T623A	possibly damaging	Het
Alox5	A	G	6: 116,390,741 (GRCm39)	F470S	probably damaging	Het
Angpt2	T	C	8: 18,755,855 (GRCm39)	E204G	probably benign	Het
Apip	A	G	2: 102,919,838 (GRCm39)	E138G	probably damaging	Het
Apob	C	T	12: 8,039,207 (GRCm39)	T466M	probably benign	Het
Atp2b3	GACAACA	GACA	X: 72,588,729 (GRCm39)		probably benign	Het
Atxn7l3	A	T	11: 102,185,340 (GRCm39)	D56E	probably benign	Het
Cacna1s	C	T	1: 136,026,289 (GRCm39)	A1092V	probably damaging	Het
Calr3	A	G	8: 73,181,044 (GRCm39)	F183L	probably damaging	Het
Cd300lb	T	A	11: 114,816,877 (GRCm39)	D55V	probably benign	Het
Chid1	A	C	7: 141,108,384 (GRCm39)	V145G	probably damaging	Het
Chst15	T	C	7: 131,871,855 (GRCm39)	N142S	probably damaging	Het
Cnot4	C	T	6: 35,028,389 (GRCm39)	R409Q	probably damaging	Het
Cope	T	G	8: 70,765,411 (GRCm39)	I287S	possibly damaging	Het
Cpd	A	T	11: 76,731,212 (GRCm39)		probably null	Het
Cux1	G	T	5: 136,337,133 (GRCm39)	T785K	probably benign	Het
Dennd2b	A	G	7: 109,156,562 (GRCm39)	S63P	probably damaging	Het
Dthd1	T	C	5: 62,979,383 (GRCm39)	S348P	probably damaging	Het
Eno3	G	T	11: 70,551,903 (GRCm39)	E64*	probably null	Het
Entpd1	T	A	19: 40,713,507 (GRCm39)	Y184*	probably null	Het
Erv3	A	T	2: 131,698,083 (GRCm39)	M92K	probably benign	Het
Flg2	T	A	3: 93,110,445 (GRCm39)	H824Q	unknown	Het
Fndc9	G	A	11: 46,128,930 (GRCm39)	G150S	probably benign	Het
Gdap1	G	A	1: 17,217,169 (GRCm39)	V43I	possibly damaging	Het
Ifi213	C	A	1: 173,417,229 (GRCm39)	L394F	probably damaging	Het
Ift88	A	G	14: 57,668,085 (GRCm39)	T29A	possibly damaging	Het
Kdm4c	A	T	4: 74,252,063 (GRCm39)	I437L	probably benign	Het
Kras	T	A	6: 145,177,977 (GRCm39)	E98D	probably benign	Het
Lcorl	C	A	5: 45,891,543 (GRCm39)	R353I	possibly damaging	Het
Lrrc4c	A	G	2: 97,460,921 (GRCm39)	I516V	probably benign	Het
Lrrc51	T	C	7: 101,564,803 (GRCm39)	D85G	probably damaging	Het
Lypd6b	G	A	2: 49,837,504 (GRCm39)	A159T	probably damaging	Het
Magel2	G	A	7: 62,030,188 (GRCm39)	V1031I	unknown	Het
Man1c1	A	T	4: 134,308,100 (GRCm39)	N338K	probably benign	Het
Mdn1	C	A	4: 32,739,977 (GRCm39)	Q3744K	probably damaging	Het
Micu3	G	T	8: 40,788,893 (GRCm39)	A135S	possibly damaging	Het
Muc4	T	C	16: 32,569,167 (GRCm39)	S76P	possibly damaging	Het
Nin	T	G	12: 70,061,547 (GRCm39)	T2106P	probably benign	Het
Nlrp4e	T	C	7: 23,021,268 (GRCm39)	I585T	probably benign	Het
Npy1r	C	T	8: 67,156,847 (GRCm39)	A89V	probably benign	Het
Or11g27	T	C	14: 50,771,622 (GRCm39)	V251A	probably damaging	Het
Or4c115	G	A	2: 88,927,944 (GRCm39)	A109V	probably benign	Het
Or52ae7	T	A	7: 103,119,249 (GRCm39)	M1K	probably null	Het
Or52n3	T	A	7: 104,530,515 (GRCm39)	Y200*	probably null	Het
Or5w13	A	T	2: 87,523,872 (GRCm39)	M118K	probably damaging	Het
Parp14	T	G	16: 35,677,008 (GRCm39)	T987P	possibly damaging	Het
Pde7b	A	T	10: 20,423,867 (GRCm39)	V3E	probably damaging	Het
Pdlim7	G	T	13: 55,656,107 (GRCm39)	Y104*	probably null	Het
Pgm2l1	A	G	7: 99,910,932 (GRCm39)	K292R	probably benign	Het
Plec	T	C	15: 76,072,401 (GRCm39)	E728G	probably damaging	Het
Plppr4	T	C	3: 117,129,152 (GRCm39)	Y105C	probably damaging	Het
Polr1c	A	T	17: 46,558,821 (GRCm39)	N23K	possibly damaging	Het
Ppp5c	A	T	7: 16,743,861 (GRCm39)	M191K	probably damaging	Het
Prkca	T	C	11: 107,869,142 (GRCm39)	D57G	probably damaging	Het
Prkcb	A	G	7: 122,143,854 (GRCm39)		probably null	Het
Prl6a1	A	T	13: 27,502,911 (GRCm39)	Q169L	probably null	Het
Prl6a1	C	A	13: 27,502,910 (GRCm39)	Q169K	possibly damaging	Het
Psmd14	G	A	2: 61,591,335 (GRCm39)	R46H	probably damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Ramp2	A	G	11: 101,138,408 (GRCm39)	T22A	probably benign	Het
Rbm19	AGAGGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGAGGA	5: 120,278,345 (GRCm39)		probably benign	Het
Rbm25	A	T	12: 83,715,219 (GRCm39)	E463D	possibly damaging	Het
Retnlb	A	G	16: 48,637,678 (GRCm39)	I35V	probably benign	Het
Sestd1	A	G	2: 77,071,976 (GRCm39)	Y49H	probably damaging	Het
Setd2	T	A	9: 110,431,306 (GRCm39)	I2378N	probably damaging	Het
Spef2	T	A	15: 9,667,316 (GRCm39)	I791F	probably damaging	Het
Sptb	T	C	12: 76,650,798 (GRCm39)	T1726A	possibly damaging	Het
Stk38l	T	A	6: 146,673,129 (GRCm39)	M296K	probably benign	Het
Taf5	T	C	19: 47,070,285 (GRCm39)	F624L	probably damaging	Het
Tmem30c	G	T	16: 57,086,855 (GRCm39)	T316K	probably damaging	Het
Trpm2	A	G	10: 77,778,839 (GRCm39)	S376P	possibly damaging	Het
Vmn2r82	A	T	10: 79,214,702 (GRCm39)	L228F	probably damaging	Het
Zfp607b	G	A	7: 27,398,087 (GRCm39)	C57Y	possibly damaging	Het
Zfp983	A	G	17: 21,881,269 (GRCm39)	H399R	probably damaging	Het
Zfp984	A	T	4: 147,840,002 (GRCm39)	M283K	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
R1726:Slc26a1	UTSW	5	108,821,541 (GRCm39)	missense	probably damaging	1.00
R1766:Slc26a1	UTSW	5	108,819,658 (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'- GTGGACCTGTGAAACGGAACACTC -3'
(R):5'- TGCTCTGTCCAAAACTCTGGTGAAG -3'

Sequencing Primer
(F):5'- GGAACACTCGCACCTCAGG -3'
(R):5'- AGACCCAGTTGTCCAGTGTG -3'

Posted On

2014-04-13