Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01131:Slc26a9'

50324

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc26a9

Ensembl Gene

ENSMUSG00000042268

Gene Name

solute carrier family 26, member 9

Synonyms

anion transporter/exchanger-9, E030002L01Rik

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.859) question?

Stock #

IGL01131

Quality Score

Status

Chromosome

Chromosomal Location

131744022-131771504 bp(+) (GRCm38)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

T to C at 131755542 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000036916 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049027] [ENSMUST00000147800] [ENSMUST00000186122]

Predicted Effect

probably null
Transcript: ENSMUST00000049027

SMART Domains

Protein: ENSMUSP00000036916
Gene: ENSMUSG00000042268

Domain	Start	End	E-Value	Type
Pfam:Sulfate_transp	71	469	7.4e-99	PFAM
transmembrane domain	473	495	N/A	INTRINSIC
Pfam:STAS	520	733	2.8e-27	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130544

Predicted Effect

probably benign
Transcript: ENSMUST00000147800

SMART Domains

Protein: ENSMUSP00000122075
Gene: ENSMUSG00000042268

Domain	Start	End	E-Value	Type
Pfam:Sulfate_tra_GLY	56	139	5.1e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000186122

SMART Domains

Protein: ENSMUSP00000141171
Gene: ENSMUSG00000042268

Domain	Start	End	E-Value	Type
Pfam:Sulfate_transp	150	428	9.6e-58	PFAM
low complexity region	453	462	N/A	INTRINSIC

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 one 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 yet have markedly different tissue expression patterns. The product of this gene is a highly selective chloride ion channel regulated by WNK kinases. Alternative splicing results in multiple transcript variants encoding differing isoforms.[provided by RefSeq, Dec 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit reduced gastric secretory membranes and loss of gastric acid secretion. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,950,275	V124I	probably damaging	Het
Adgrf5	G	T	17: 43,422,509	D75Y	possibly damaging	Het
Cfap20	T	C	8: 95,424,659	D18G	probably damaging	Het
Cpne3	T	C	4: 19,543,318	D160G	probably damaging	Het
Ercc3	A	G	18: 32,269,889	*784W	probably null	Het
Fam53b	T	C	7: 132,715,782	E377G	probably damaging	Het
Far2	T	C	6: 148,150,598	V125A	possibly damaging	Het
Fasn	T	C	11: 120,814,619	E1192G	probably benign	Het
Irf5	A	G	6: 29,536,103	E372G	probably damaging	Het
Kif2c	C	T	4: 117,172,365	V140M	probably damaging	Het
Klre1	T	C	6: 129,584,170	F165L	possibly damaging	Het
Kmt2a	C	T	9: 44,821,170		probably benign	Het
Lrp2	C	T	2: 69,499,239	C1728Y	probably damaging	Het
Muc4	C	A	16: 32,753,901	T1259N	possibly damaging	Het
Nlrp9b	A	G	7: 20,023,537	D233G	probably damaging	Het
Nuf2	T	C	1: 169,522,364		probably benign	Het
Nynrin	A	G	14: 55,872,685	K1750E	probably damaging	Het
Olfr1463	A	G	19: 13,234,739	D163G	probably benign	Het
Parp4	C	A	14: 56,585,760		probably benign	Het
Rbms1	T	C	2: 60,758,836	M287V	probably benign	Het
Rhox3c	G	A	X: 37,470,329	R71K	probably damaging	Het
Rufy1	A	G	11: 50,392,023	L638P	probably damaging	Het
Slc15a3	G	A	19: 10,857,622		probably benign	Het
Slc6a13	A	G	6: 121,321,641	Y150C	probably damaging	Het
Slitrk6	A	T	14: 110,751,576	L233Q	probably damaging	Het
Ugt3a2	T	A	15: 9,365,162	I287N	probably damaging	Het
Unc13c	T	C	9: 73,564,053	N1778S	probably benign	Het
Vmn1r212	T	C	13: 22,883,159	N335D	unknown	Het
Wdfy1	C	T	1: 79,713,872	V273I	probably benign	Het

Other mutations in Slc26a9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00848:Slc26a9	APN	1	131757528	missense	probably damaging	0.97
IGL01544:Slc26a9	APN	1	131759495	critical splice donor site	probably null
IGL01845:Slc26a9	APN	1	131757518	missense	probably damaging	0.99
IGL02125:Slc26a9	APN	1	131759437	missense	probably damaging	1.00
IGL02151:Slc26a9	APN	1	131764043	missense	probably damaging	1.00
IGL02267:Slc26a9	APN	1	131752845	missense	probably damaging	1.00
IGL02469:Slc26a9	APN	1	131762936	missense	probably damaging	0.96
IGL03137:Slc26a9	APN	1	131763877	missense	probably benign	0.01
IGL03324:Slc26a9	APN	1	131764010	missense	probably damaging	1.00
R0588:Slc26a9	UTSW	1	131754011	splice site	probably benign
R0611:Slc26a9	UTSW	1	131762761	missense	probably damaging	1.00
R0639:Slc26a9	UTSW	1	131763804	missense	probably damaging	0.97
R0654:Slc26a9	UTSW	1	131765030	missense	probably benign	0.00
R0926:Slc26a9	UTSW	1	131753216	missense	probably benign	0.40
R1109:Slc26a9	UTSW	1	131758798	missense	probably benign	0.05
R1521:Slc26a9	UTSW	1	131750677	missense	probably damaging	1.00
R1728:Slc26a9	UTSW	1	131763870	missense	probably benign	0.05
R1728:Slc26a9	UTSW	1	131766012	missense	probably benign
R1729:Slc26a9	UTSW	1	131763870	missense	probably benign	0.05
R1729:Slc26a9	UTSW	1	131766012	missense	probably benign
R1730:Slc26a9	UTSW	1	131763870	missense	probably benign	0.05
R1739:Slc26a9	UTSW	1	131763870	missense	probably benign	0.05
R1762:Slc26a9	UTSW	1	131763870	missense	probably benign	0.05
R1762:Slc26a9	UTSW	1	131766012	missense	probably benign
R1783:Slc26a9	UTSW	1	131763870	missense	probably benign	0.05
R1783:Slc26a9	UTSW	1	131766012	missense	probably benign
R1784:Slc26a9	UTSW	1	131763870	missense	probably benign	0.05
R1784:Slc26a9	UTSW	1	131766012	missense	probably benign
R1785:Slc26a9	UTSW	1	131763870	missense	probably benign	0.05
R1785:Slc26a9	UTSW	1	131766012	missense	probably benign
R1992:Slc26a9	UTSW	1	131762794	missense	probably damaging	1.00
R2198:Slc26a9	UTSW	1	131763263	splice site	probably benign
R3008:Slc26a9	UTSW	1	131765914	missense	probably damaging	1.00
R3409:Slc26a9	UTSW	1	131763944	missense	probably benign
R3879:Slc26a9	UTSW	1	131769231	missense	probably benign	0.39
R4064:Slc26a9	UTSW	1	131763187	missense	probably benign	0.01
R4088:Slc26a9	UTSW	1	131767849	missense	possibly damaging	0.49
R4657:Slc26a9	UTSW	1	131753138	missense	probably damaging	1.00
R5005:Slc26a9	UTSW	1	131765887	missense	probably damaging	0.99
R6255:Slc26a9	UTSW	1	131763909	missense	probably benign	0.00
R6418:Slc26a9	UTSW	1	131758490	missense	probably benign	0.06
R6442:Slc26a9	UTSW	1	131758817	missense	possibly damaging	0.58
R6674:Slc26a9	UTSW	1	131765018	missense	probably benign	0.01
R6719:Slc26a9	UTSW	1	131761785	missense	probably benign	0.13
R7202:Slc26a9	UTSW	1	131762788	missense	possibly damaging	0.77
R7214:Slc26a9	UTSW	1	131759473	missense	probably damaging	0.99
R7238:Slc26a9	UTSW	1	131758818	nonsense	probably null
R7389:Slc26a9	UTSW	1	131769248	makesense	probably null
R7439:Slc26a9	UTSW	1	131762818	missense	probably damaging	1.00
R7441:Slc26a9	UTSW	1	131762818	missense	probably damaging	1.00
R7470:Slc26a9	UTSW	1	131764043	missense	probably benign	0.33
R7515:Slc26a9	UTSW	1	131753973	missense	probably damaging	0.99
R7652:Slc26a9	UTSW	1	131763896	missense	probably benign	0.06
R7655:Slc26a9	UTSW	1	131763244	missense	possibly damaging	0.88
R7656:Slc26a9	UTSW	1	131763244	missense	possibly damaging	0.88

Posted On

2013-06-21