Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02566:Slc26a1'

298826

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02566

Quality Score

Status

Chromosome

Chromosomal Location

108817744-108823435 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108821665 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 75 (S75P)

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 damaging
Transcript: ENSMUST00000051757
AA Change: S75P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000051561
Gene: ENSMUSG00000046959
AA Change: S75P

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: S91P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113185
Gene: ENSMUSG00000046959
AA Change: S91P

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 damaging
Transcript: ENSMUST00000136227
AA Change: S75P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000116540
Gene: ENSMUSG00000046959
AA Change: S75P

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: S75P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000131282
Gene: ENSMUSG00000046959
AA Change: S75P

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: 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

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arl4d	A	G	11: 101,557,980 (GRCm39)	S169G	probably damaging	Het
Bbx	A	T	16: 50,043,603 (GRCm39)		probably benign	Het
Blm	A	T	7: 80,123,944 (GRCm39)	M959K	probably damaging	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cyb5d1	T	C	11: 69,284,594 (GRCm39)	N186S	probably benign	Het
Elk3	A	G	10: 93,101,325 (GRCm39)	L142P	probably damaging	Het
Gk5	G	A	9: 96,011,099 (GRCm39)	D70N	possibly damaging	Het
Gpr84	T	C	15: 103,217,150 (GRCm39)	D309G	probably benign	Het
Greb1l	T	C	18: 10,503,299 (GRCm39)	V450A	probably damaging	Het
Gucy1b1	A	G	3: 81,965,636 (GRCm39)	F70S	probably damaging	Het
Jmjd4	T	A	11: 59,345,880 (GRCm39)	M320K	probably damaging	Het
Map10	A	G	8: 126,398,494 (GRCm39)	N629S	probably benign	Het
Nmd3	G	T	3: 69,647,247 (GRCm39)		probably benign	Het
Obscn	G	T	11: 58,958,973 (GRCm39)	T3359K	probably damaging	Het
Or2t1	C	A	14: 14,328,138 (GRCm38)	T9K	probably benign	Het
Pkhd1l1	A	G	15: 44,389,450 (GRCm39)		probably null	Het
Plcb1	T	C	2: 135,314,183 (GRCm39)	F1212L	probably benign	Het
Rabep1	A	G	11: 70,808,540 (GRCm39)	S459G	probably damaging	Het
Septin4	T	G	11: 87,458,468 (GRCm39)	S281A	probably benign	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Sult1d1	A	T	5: 87,712,670 (GRCm39)	L58Q	probably damaging	Het
Tnrc18	A	T	5: 142,758,068 (GRCm39)		probably benign	Het
Vps35l	C	T	7: 118,352,055 (GRCm39)	A154V	probably benign	Het
Zfp442	T	C	2: 150,251,711 (GRCm39)		probably null	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
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
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

Posted On

2015-04-16