Mutagenetix > Incidental Mutation

Incidental Mutation 'R0588:Slc26a9'

55829

Institutional Source

Beutler Lab

Gene Symbol

Slc26a9

Ensembl Gene

ENSMUSG00000042268

Gene Name

solute carrier family 26, member 9

Synonyms

anion transporter/exchanger-9, E030002L01Rik

MMRRC Submission

038778-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.805) question?

Stock #

R0588 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

131671760-131699242 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 131681749 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000141171 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 94.8%

Validation Efficiency

100% (25/25)

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	A	6: 142,548,787 (GRCm39)	K1299*	probably null	Het
Adamts2	G	T	11: 50,667,491 (GRCm39)	W476C	probably damaging	Het
Ankrd13c	T	C	3: 157,711,454 (GRCm39)	F525L	probably damaging	Het
Arg1	T	C	10: 24,796,522 (GRCm39)	S102G	probably damaging	Het
Atp2a3	A	T	11: 72,863,850 (GRCm39)	D192V	possibly damaging	Het
Cabin1	T	C	10: 75,581,171 (GRCm39)	E385G	possibly damaging	Het
Cacna1h	A	T	17: 25,606,538 (GRCm39)	D1020E	probably damaging	Het
Calcb	C	T	7: 114,319,361 (GRCm39)	H48Y	probably benign	Het
Crtc1	A	G	8: 70,892,199 (GRCm39)	S4P	probably damaging	Het
Dcaf6	A	G	1: 165,247,792 (GRCm39)	I147T	possibly damaging	Het
Ears2	T	C	7: 121,643,514 (GRCm39)		probably benign	Het
Fas	T	C	19: 34,304,540 (GRCm39)	V267A	probably damaging	Het
Fus	T	C	7: 127,584,746 (GRCm39)	L84P	probably damaging	Het
Fyb1	T	C	15: 6,609,940 (GRCm39)	V171A	probably benign	Het
Gdap2	T	A	3: 100,077,317 (GRCm39)	M1K	probably null	Het
Gprc5b	T	A	7: 118,583,218 (GRCm39)	Q217L	probably benign	Het
Lrrc69	A	G	4: 14,704,001 (GRCm39)	I273T	possibly damaging	Het
Map4k4	C	A	1: 40,044,024 (GRCm39)	Q556K	possibly damaging	Het
Npy6r	T	A	18: 44,408,888 (GRCm39)	V103E	possibly damaging	Het
Or5b24	A	G	19: 12,912,111 (GRCm39)	Y3C	probably benign	Het
Shisa9	A	G	16: 12,085,638 (GRCm39)	T416A	probably damaging	Het
Sostdc1	G	T	12: 36,367,020 (GRCm39)		probably benign	Het
St18	T	A	1: 6,887,962 (GRCm39)	F510L	probably damaging	Het
Zdhhc7	A	G	8: 120,810,106 (GRCm39)		probably benign	Het

Other mutations in Slc26a9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00848:Slc26a9	APN	1	131,685,266 (GRCm39)	missense	probably damaging	0.97
IGL01131:Slc26a9	APN	1	131,683,280 (GRCm39)	splice site	probably null
IGL01544:Slc26a9	APN	1	131,687,233 (GRCm39)	critical splice donor site	probably null
IGL01845:Slc26a9	APN	1	131,685,256 (GRCm39)	missense	probably damaging	0.99
IGL02125:Slc26a9	APN	1	131,687,175 (GRCm39)	missense	probably damaging	1.00
IGL02151:Slc26a9	APN	1	131,691,781 (GRCm39)	missense	probably damaging	1.00
IGL02267:Slc26a9	APN	1	131,680,583 (GRCm39)	missense	probably damaging	1.00
IGL02469:Slc26a9	APN	1	131,690,674 (GRCm39)	missense	probably damaging	0.96
IGL03137:Slc26a9	APN	1	131,691,615 (GRCm39)	missense	probably benign	0.01
IGL03324:Slc26a9	APN	1	131,691,748 (GRCm39)	missense	probably damaging	1.00
R0611:Slc26a9	UTSW	1	131,690,499 (GRCm39)	missense	probably damaging	1.00
R0639:Slc26a9	UTSW	1	131,691,542 (GRCm39)	missense	probably damaging	0.97
R0654:Slc26a9	UTSW	1	131,692,768 (GRCm39)	missense	probably benign	0.00
R0926:Slc26a9	UTSW	1	131,680,954 (GRCm39)	missense	probably benign	0.40
R1109:Slc26a9	UTSW	1	131,686,536 (GRCm39)	missense	probably benign	0.05
R1521:Slc26a9	UTSW	1	131,678,415 (GRCm39)	missense	probably damaging	1.00
R1728:Slc26a9	UTSW	1	131,693,750 (GRCm39)	missense	probably benign
R1728:Slc26a9	UTSW	1	131,691,608 (GRCm39)	missense	probably benign	0.05
R1729:Slc26a9	UTSW	1	131,693,750 (GRCm39)	missense	probably benign
R1729:Slc26a9	UTSW	1	131,691,608 (GRCm39)	missense	probably benign	0.05
R1730:Slc26a9	UTSW	1	131,691,608 (GRCm39)	missense	probably benign	0.05
R1739:Slc26a9	UTSW	1	131,691,608 (GRCm39)	missense	probably benign	0.05
R1762:Slc26a9	UTSW	1	131,693,750 (GRCm39)	missense	probably benign
R1762:Slc26a9	UTSW	1	131,691,608 (GRCm39)	missense	probably benign	0.05
R1783:Slc26a9	UTSW	1	131,693,750 (GRCm39)	missense	probably benign
R1783:Slc26a9	UTSW	1	131,691,608 (GRCm39)	missense	probably benign	0.05
R1784:Slc26a9	UTSW	1	131,693,750 (GRCm39)	missense	probably benign
R1784:Slc26a9	UTSW	1	131,691,608 (GRCm39)	missense	probably benign	0.05
R1785:Slc26a9	UTSW	1	131,693,750 (GRCm39)	missense	probably benign
R1785:Slc26a9	UTSW	1	131,691,608 (GRCm39)	missense	probably benign	0.05
R1992:Slc26a9	UTSW	1	131,690,532 (GRCm39)	missense	probably damaging	1.00
R2198:Slc26a9	UTSW	1	131,691,001 (GRCm39)	splice site	probably benign
R3008:Slc26a9	UTSW	1	131,693,652 (GRCm39)	missense	probably damaging	1.00
R3409:Slc26a9	UTSW	1	131,691,682 (GRCm39)	missense	probably benign
R3879:Slc26a9	UTSW	1	131,696,969 (GRCm39)	missense	probably benign	0.39
R4064:Slc26a9	UTSW	1	131,690,925 (GRCm39)	missense	probably benign	0.01
R4088:Slc26a9	UTSW	1	131,695,587 (GRCm39)	missense	possibly damaging	0.49
R4657:Slc26a9	UTSW	1	131,680,876 (GRCm39)	missense	probably damaging	1.00
R5005:Slc26a9	UTSW	1	131,693,625 (GRCm39)	missense	probably damaging	0.99
R6255:Slc26a9	UTSW	1	131,691,647 (GRCm39)	missense	probably benign	0.00
R6418:Slc26a9	UTSW	1	131,686,228 (GRCm39)	missense	probably benign	0.06
R6442:Slc26a9	UTSW	1	131,686,555 (GRCm39)	missense	possibly damaging	0.58
R6674:Slc26a9	UTSW	1	131,692,756 (GRCm39)	missense	probably benign	0.01
R6719:Slc26a9	UTSW	1	131,689,523 (GRCm39)	missense	probably benign	0.13
R7202:Slc26a9	UTSW	1	131,690,526 (GRCm39)	missense	possibly damaging	0.77
R7214:Slc26a9	UTSW	1	131,687,211 (GRCm39)	missense	probably damaging	0.99
R7238:Slc26a9	UTSW	1	131,686,556 (GRCm39)	nonsense	probably null
R7389:Slc26a9	UTSW	1	131,696,986 (GRCm39)	makesense	probably null
R7439:Slc26a9	UTSW	1	131,690,556 (GRCm39)	missense	probably damaging	1.00
R7441:Slc26a9	UTSW	1	131,690,556 (GRCm39)	missense	probably damaging	1.00
R7470:Slc26a9	UTSW	1	131,691,781 (GRCm39)	missense	probably benign	0.33
R7515:Slc26a9	UTSW	1	131,681,711 (GRCm39)	missense	probably damaging	0.99
R7652:Slc26a9	UTSW	1	131,691,634 (GRCm39)	missense	probably benign	0.06
R7655:Slc26a9	UTSW	1	131,690,982 (GRCm39)	missense	possibly damaging	0.88
R7656:Slc26a9	UTSW	1	131,690,982 (GRCm39)	missense	possibly damaging	0.88
R8278:Slc26a9	UTSW	1	131,689,514 (GRCm39)	missense	possibly damaging	0.48
R8790:Slc26a9	UTSW	1	131,683,155 (GRCm39)	missense	probably damaging	1.00
R9064:Slc26a9	UTSW	1	131,680,703 (GRCm39)	missense	probably benign
R9639:Slc26a9	UTSW	1	131,678,409 (GRCm39)	missense	probably damaging	0.98
R9670:Slc26a9	UTSW	1	131,681,688 (GRCm39)	missense	probably benign	0.00
R9681:Slc26a9	UTSW	1	131,681,691 (GRCm39)	missense	probably benign	0.01
R9775:Slc26a9	UTSW	1	131,690,970 (GRCm39)	missense	possibly damaging	0.67

Predicted Primers

PCR Primer
(F):5'- GCACACTGCAAACTTCTGACTTCAC -3'
(R):5'- GGCATCTGAAAGGTTCTAGGCAGAC -3'

Sequencing Primer
(F):5'- GTACCTTTGCCGTTATCAGC -3'
(R):5'- TGGTCAAGATAGCTCCATCAG -3'

Posted On

2013-07-11