Mutagenetix > Incidental Mutation

Incidental Mutation 'R1521:Slc26a9'

166938

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

040870-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.904) question?

Stock #

R1521 (G1)

Quality Score

210

Status

Not validated

Chromosome

Chromosomal Location

131744022-131771504 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 131750677 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 27 (K27R)

Ref Sequence

ENSEMBL: ENSMUSP00000036916 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000049027
AA Change: K27R

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

SMART Domains

Protein: ENSMUSP00000036916
Gene: ENSMUSG00000042268
AA Change: K27R

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
AA Change: K27R

PolyPhen 2 Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000122075
Gene: ENSMUSG00000042268
AA Change: K27R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000186122
AA Change: K27R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000141171
Gene: ENSMUSG00000042268
AA Change: K27R

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: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.6%

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: 118 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adat1	A	G	8: 111,987,235	L104P	possibly damaging	Het
Adgrf5	T	C	17: 43,430,552	V360A	probably benign	Het
Ahnak	G	A	19: 9,004,728	M1125I	probably benign	Het
Akap12	T	C	10: 4,354,804	V538A	probably benign	Het
Arhgef10l	T	C	4: 140,515,438	D1088G	possibly damaging	Het
Atp7b	A	T	8: 22,027,673	L268Q	probably damaging	Het
Atxn2	A	C	5: 121,779,591	N516T	probably damaging	Het
Cacna1h	T	C	17: 25,397,354	M184V	possibly damaging	Het
Cacnb2	G	T	2: 14,614,352	R66L	probably benign	Het
Casp8ap2	A	G	4: 32,631,867	E96G	probably damaging	Het
Ccdc78	G	T	17: 25,788,781	R264L	probably damaging	Het
Cdh4	G	A	2: 179,797,558	R166H	probably damaging	Het
Cog7	C	T	7: 121,930,574	D615N	possibly damaging	Het
Crtc2	T	C	3: 90,257,383	V115A	probably benign	Het
Crybg1	A	G	10: 43,998,416	S899P	probably damaging	Het
Ctdnep1	T	A	11: 69,988,635	V128E	probably damaging	Het
Ctnna3	A	G	10: 64,959,842	K780E	probably benign	Het
Cul7	T	A	17: 46,663,190	L1467H	probably damaging	Het
Dazap2	T	A	15: 100,618,065	Y91*	probably null	Het
Dcdc5	T	C	2: 106,351,669		noncoding transcript	Het
Dppa1	T	A	11: 46,610,473	R74S	possibly damaging	Het
Elovl1	A	T	4: 118,432,000	T241S	probably benign	Het
Eya1	G	T	1: 14,274,550	Q86K	probably damaging	Het
Fam71a	T	A	1: 191,164,022	R141S	probably benign	Het
Fancm	A	T	12: 65,121,704	M1614L	probably benign	Het
Fcgbp	C	T	7: 28,075,160	T53I	probably benign	Het
Fpr3	T	A	17: 17,971,015	W183R	probably damaging	Het
Galnt13	G	A	2: 54,854,645	V119I	probably benign	Het
Gcfc2	T	C	6: 81,923,812	S36P	probably benign	Het
Gdap2	T	A	3: 100,194,615	D412E	possibly damaging	Het
Gm10184	T	A	17: 89,910,306	N4I	possibly damaging	Het
Gm12258	T	C	11: 58,859,555	C41R	probably damaging	Het
Grrp1	T	C	4: 134,251,350	*272W	probably null	Het
Hipk1	T	G	3: 103,777,782	E172D	probably benign	Het
Hmgcs1	T	G	13: 119,703,591	L326R	probably benign	Het
Hs6st1	C	A	1: 36,068,886	R77S	probably damaging	Het
Ifit3	A	T	19: 34,587,173	N40Y	probably damaging	Het
Il1a	T	A	2: 129,304,741	Q144L	possibly damaging	Het
Itga7	A	G	10: 128,957,811	E1128G	possibly damaging	Het
Itih2	T	C	2: 10,106,747	D460G	probably damaging	Het
Ivns1abp	G	A	1: 151,351,558	C39Y	probably damaging	Het
Kif22	G	T	7: 127,027,839	A646E	probably damaging	Het
Klhl29	T	C	12: 5,091,307	Y559C	probably damaging	Het
Klhl7	T	A	5: 24,149,110		probably null	Het
Klhl9	A	G	4: 88,721,993	S4P	probably benign	Het
Klk10	A	G	7: 43,782,880	Q79R	probably benign	Het
Klk6	T	C	7: 43,829,275		probably null	Het
Lamc2	C	T	1: 153,166,263	E42K	probably benign	Het
Lingo3	T	C	10: 80,835,721	D125G	probably benign	Het
Map1b	T	C	13: 99,432,739	N1158S	unknown	Het
Masp1	T	A	16: 23,494,637	N183Y	probably damaging	Het
Mdga2	A	G	12: 66,568,926	Y636H	probably benign	Het
Micalcl	T	A	7: 112,381,610	S264T	probably damaging	Het
Mif	A	G	10: 75,859,541	V95A	possibly damaging	Het
Mmp17	G	A	5: 129,595,088		probably null	Het
Mmp23	T	C	4: 155,650,717	R390G	possibly damaging	Het
Ncoa6	A	C	2: 155,415,222	S800R	possibly damaging	Het
Nfix	G	A	8: 84,726,526	R300C	probably damaging	Het
Nr2e3	A	T	9: 59,949,205	S67R	probably damaging	Het
Odf2l	T	C	3: 145,149,036	S545P	possibly damaging	Het
Olfr1256	G	A	2: 89,835,172	R258*	probably null	Het
Olfr172	C	T	16: 58,760,853	E108K	probably damaging	Het
Olfr591	T	A	7: 103,173,451	Y62F	probably benign	Het
Olfr845	C	T	9: 19,338,652	S64F	probably benign	Het
Olfr872	A	C	9: 20,260,432	Q197H	possibly damaging	Het
Olfr916	T	G	9: 38,657,718	I225L	probably damaging	Het
Olfr958	A	T	9: 39,550,784	V29E	possibly damaging	Het
Otog	A	T	7: 46,259,264	H562L	possibly damaging	Het
Pcdh15	T	C	10: 74,594,191	V1250A	probably damaging	Het
Pde1c	A	G	6: 56,173,607	V309A	possibly damaging	Het
Pfkfb4	A	C	9: 109,007,305	T134P	probably damaging	Het
Phc3	G	T	3: 30,936,575	Q498K	possibly damaging	Het
Phlpp1	T	C	1: 106,392,319	V1348A	probably damaging	Het
Pik3ap1	T	C	19: 41,321,558	D441G	probably damaging	Het
Pkd1l2	T	C	8: 117,065,500		probably null	Het
Pla2g4a	T	C	1: 149,857,686		probably null	Het
Pola2	A	T	19: 5,948,406	I376N	probably damaging	Het
Pold2	T	A	11: 5,876,833	N34Y	probably damaging	Het
Ppp2r5c	T	C	12: 110,554,886	L281P	probably damaging	Het
Prss46	A	G	9: 110,849,635	I29V	probably benign	Het
Ranbp6	A	T	19: 29,811,446	V502E	probably benign	Het
Rdh14	T	C	12: 10,394,613	F155L	probably damaging	Het
Rnaseh2a	A	T	8: 84,965,858		probably null	Het
Rpp30	A	G	19: 36,094,385	T118A	possibly damaging	Het
Rragd	T	C	4: 32,996,005	F117L	probably damaging	Het
S100a2	T	A	3: 90,591,292		probably null	Het
Sept12	T	C	16: 4,996,476	K43R	probably damaging	Het
Sh3tc2	A	G	18: 62,008,488	E1080G	probably damaging	Het
Spata17	T	A	1: 187,193,994	K46N	probably damaging	Het
St14	A	C	9: 31,108,215	D103E	probably benign	Het
St6galnac2	T	A	11: 116,684,347	Q222L	possibly damaging	Het
Tdrd9	T	C	12: 112,036,410	V831A	probably damaging	Het
Tert	A	G	13: 73,642,056	E843G	probably damaging	Het
Tex21	A	G	12: 76,204,270	V464A	probably benign	Het
Tmem232	T	A	17: 65,484,501	H124L	probably damaging	Het
Tmem5	A	G	10: 122,090,479	W243R	probably damaging	Het
Tnfrsf19	T	G	14: 61,005,106	S110R	probably damaging	Het
Tnnt3	A	T	7: 142,515,825	K272*	probably null	Het
Tnxb	T	C	17: 34,711,503	L2054P	probably damaging	Het
Trcg1	A	C	9: 57,242,465	D440A	probably benign	Het
Trpm3	A	G	19: 22,901,221	E504G	probably damaging	Het
Trpm5	C	T	7: 143,082,889	R437H	probably benign	Het
Ttn	T	C	2: 76,741,167	R18134G	probably damaging	Het
Uchl5	A	C	1: 143,798,422	M64L	possibly damaging	Het
Urb1	G	A	16: 90,753,863	R2034W	probably damaging	Het
Usp44	T	A	10: 93,847,186	C452*	probably null	Het
Uvssa	G	A	5: 33,413,934	A641T	probably damaging	Het
Vmn1r204	T	A	13: 22,557,078	I293N	probably benign	Het
Vmn2r84	A	T	10: 130,389,268	C458S	probably benign	Het
Vmn2r85	T	G	10: 130,425,919	H183P	probably damaging	Het
Vps13d	G	T	4: 145,105,861	T2825K	probably benign	Het
Zc3hc1	T	A	6: 30,376,025	I179F	probably benign	Het
Zfp112	A	G	7: 24,125,785	N393D	probably damaging	Het
Zfp558	A	G	9: 18,456,563	S310P	possibly damaging	Het
Zfp560	A	C	9: 20,348,775		probably null	Het
Zfp668	C	T	7: 127,867,080	E311K	probably benign	Het
Zfp763	T	A	17: 33,033,302	M1L	probably benign	Het
Zfp947	A	T	17: 22,145,832	M287K	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
IGL01131:Slc26a9	APN	1	131755542	splice site	probably null
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
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
R8278:Slc26a9	UTSW	1	131761776	missense	possibly damaging	0.48
R8790:Slc26a9	UTSW	1	131755417	missense	probably damaging	1.00
R9064:Slc26a9	UTSW	1	131752965	missense	probably benign
R9639:Slc26a9	UTSW	1	131750671	missense	probably damaging	0.98
R9670:Slc26a9	UTSW	1	131753950	missense	probably benign	0.00
R9681:Slc26a9	UTSW	1	131753953	missense	probably benign	0.01
R9775:Slc26a9	UTSW	1	131763232	missense	possibly damaging	0.67

Predicted Primers

PCR Primer
(F):5'- CCATCGAAAGAAGTGAGTCTGGCG -3'
(R):5'- CATTTGAGGACCCAAGAGAGGTGTG -3'

Sequencing Primer
(F):5'- GACGGGAATAAATCTCTGTTGC -3'
(R):5'- CTAGGACTTCAGGGAACCCAG -3'

Posted On

2014-04-13