Mutagenetix > Incidental Mutation

Incidental Mutation 'R6674:Slc26a9'

527204

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

044794-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.778) question?

Stock #

R6674 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

131671760-131699242 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 131692756 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 696 (Q696L)

Ref Sequence

ENSEMBL: ENSMUSP00000036916 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000049027
AA Change: Q696L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000036916
Gene: ENSMUSG00000042268
AA Change: Q696L

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

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

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.4%

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Armh3	T	C	19: 45,963,437 (GRCm39)	E92G	probably benign	Het
Cluh	A	G	11: 74,557,053 (GRCm39)	H1005R	probably damaging	Het
Coro2b	C	T	9: 62,339,709 (GRCm39)	R13H	probably damaging	Het
Depdc1a	T	A	3: 159,232,344 (GRCm39)	N698K	probably benign	Het
Dusp12	G	A	1: 170,707,317 (GRCm39)	T257I	probably benign	Het
Esf1	T	A	2: 139,962,726 (GRCm39)	K782*	probably null	Het
Extl1	T	C	4: 134,085,438 (GRCm39)	T560A	probably damaging	Het
Gpr179	C	A	11: 97,238,231 (GRCm39)		probably null	Het
Krt90	G	A	15: 101,465,761 (GRCm39)	L287F	probably damaging	Het
Mertk	T	C	2: 128,571,277 (GRCm39)	V77A	probably benign	Het
Nr4a2	C	T	2: 57,002,436 (GRCm39)	A6T	probably damaging	Het
Pdzd8	G	A	19: 59,289,801 (GRCm39)	P533L	probably damaging	Het
Plxnb1	G	A	9: 108,937,214 (GRCm39)	G1132R	probably benign	Het
Ppfia2	A	G	10: 106,763,633 (GRCm39)	I1209V	probably benign	Het
Sphkap	A	T	1: 83,255,555 (GRCm39)	S444R	probably benign	Het
Tmem144	A	G	3: 79,746,490 (GRCm39)	F22L	possibly damaging	Het
Tomm20l	A	G	12: 71,158,307 (GRCm39)	D30G	probably damaging	Het
Trpc2	A	G	7: 101,745,264 (GRCm39)	T827A	probably benign	Het
Unc50	T	C	1: 37,476,539 (GRCm39)	V208A	probably benign	Het
Vmn1r125	T	C	7: 21,006,638 (GRCm39)	S179P	probably damaging	Het
Vmn1r225	A	C	17: 20,723,377 (GRCm39)	I273L	probably benign	Het
Vmn2r117	G	A	17: 23,679,023 (GRCm39)	Q734*	probably null	Het
Vmn2r88	A	G	14: 51,651,795 (GRCm39)	I378V	probably benign	Het
Zfp507	C	T	7: 35,494,159 (GRCm39)	V295I	probably damaging	Het
Zfp981	A	G	4: 146,619,950 (GRCm39)	R35G	probably damaging	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
R0588:Slc26a9	UTSW	1	131,681,749 (GRCm39)	splice site	probably benign
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
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'- ACACTCCAGAGAGACCTAGG -3'
(R):5'- TGGCTAGGTTCAGCATACACAC -3'

Sequencing Primer
(F):5'- AGAGACCTAGGGTGCTCTCTG -3'
(R):5'- GTTCAGCATACACACAAACTAGGGTG -3'

Posted On

2018-07-23