Mutagenetix > Incidental Mutation

Incidental Mutation 'R7439:Slc26a9'

576793

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.875) question?

Stock #

R7439 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

131744022-131771504 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 131762818 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 520 (Y520C)

Ref Sequence

ENSEMBL: ENSMUSP00000036916 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000049027
AA Change: Y520C

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

SMART Domains

Protein: ENSMUSP00000036916
Gene: ENSMUSG00000042268
AA Change: Y520C

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

silent
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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530003J23Rik	G	A	10: 117,238,697		probably benign	Het
Acacb	T	C	5: 114,195,642	V542A	possibly damaging	Het
Adprhl1	C	T	8: 13,223,069	V1230I	probably benign	Het
Agpat1	T	A	17: 34,610,909	Y77N	probably damaging	Het
Apc	T	A	18: 34,312,073	I674K	probably damaging	Het
Arpc5	T	C	1: 152,771,436	S97P	probably damaging	Het
Arrdc5	A	G	17: 56,297,931	F119L	probably benign	Het
Asap1	A	G	15: 64,130,256	V402A	probably damaging	Het
Aspg	T	C	12: 112,124,821	V479A	possibly damaging	Het
B3galnt2	G	A	13: 13,994,485	V368M	probably benign	Het
Bcl3	T	C	7: 19,822,611	T23A	probably benign	Het
Bpifb5	A	G	2: 154,228,933	K215E	possibly damaging	Het
Coa4	T	A	7: 100,539,271	C64S	probably damaging	Het
Dcun1d4	T	C	5: 73,491,536		probably null	Het
Dnaaf5	T	G	5: 139,166,113	C506W	probably damaging	Het
Dock3	A	G	9: 107,023,732	Y345H	probably damaging	Het
Dscaml1	A	G	9: 45,710,326	N1024S	possibly damaging	Het
Dsp	T	C	13: 38,176,502		probably null	Het
Dsp	A	G	13: 38,195,449	T2057A	probably benign	Het
Dync1h1	T	G	12: 110,636,453	L2176R	probably damaging	Het
Eif5b	A	C	1: 38,051,637	D1192A	probably benign	Het
Epn2	A	T	11: 61,546,848		probably benign	Het
Exoc1	T	A	5: 76,545,348	N360K	probably benign	Het
Fam135b	A	T	15: 71,463,680	V555E	probably damaging	Het
Fam208a	T	A	14: 27,471,645	V934E	probably damaging	Het
Fmn1	A	T	2: 113,441,611	Q108L	unknown	Het
Gcc2	A	G	10: 58,256,901	T48A	probably benign	Het
Gm438	T	C	4: 144,777,762	D273G	probably damaging	Het
Gm6619	T	G	6: 131,490,391	I73S	possibly damaging	Het
Gm8267	T	A	14: 44,722,940	D116V	probably damaging	Het
Hapln3	T	A	7: 79,117,269	T341S	probably benign	Het
Lamb3	C	A	1: 193,332,166	D544E	possibly damaging	Het
Lhx5	T	A	5: 120,440,284	S390T	probably benign	Het
Lrrc63	A	G	14: 75,126,257	S145P	possibly damaging	Het
Lrriq1	T	C	10: 103,214,519	M791V	probably benign	Het
Lyg2	A	G	1: 37,911,137	Y37H	possibly damaging	Het
Nrbp1	T	A	5: 31,244,956	M172K	probably damaging	Het
Olfr1044	T	A	2: 86,171,010	D269V	probably damaging	Het
Olfr1261	A	G	2: 89,993,839	I149V	probably benign	Het
Olfr168	T	G	16: 19,530,900	S7R	probably benign	Het
Pcyt2	A	T	11: 120,611,383	Y308N	possibly damaging	Het
Peg10	C	CTCA	6: 4,756,453		probably benign	Het
Phf21b	A	G	15: 84,804,903	S141P	probably damaging	Het
Pigh	G	A	12: 79,089,550	P24S	probably benign	Het
Plekhg3	A	G	12: 76,576,485	D834G	probably damaging	Het
Plekhg5	T	A	4: 152,113,935	V860D	probably benign	Het
Pon1	A	G	6: 5,177,399	I170T	probably damaging	Het
Ptpn9	T	A	9: 57,027,433	Y160*	probably null	Het
Ptprj	T	C	2: 90,449,819	K1045R	possibly damaging	Het
Rilpl2	T	A	5: 124,463,788	H196L	probably benign	Het
Rnf112	C	T	11: 61,451,028	V317I	possibly damaging	Het
Rundc3a	G	T	11: 102,400,046		probably null	Het
Sgsm1	T	C	5: 113,274,321	Y489C	probably damaging	Het
Sis	G	A	3: 72,909,041	H1531Y	possibly damaging	Het
Smc5	A	G	19: 23,242,700	V467A	probably damaging	Het
Spata20	G	A	11: 94,484,041	A245V	probably benign	Het
Steap3	A	C	1: 120,241,518	F350V	probably benign	Het
Sucnr1	A	G	3: 60,086,696	Q215R	probably benign	Het
Supv3l1	G	A	10: 62,430,615	A594V	probably damaging	Het
Swt1	A	T	1: 151,411,064	F226I	probably benign	Het
Taar7f	A	G	10: 24,049,987	T160A	possibly damaging	Het
Tada2a	A	T	11: 84,126,986		probably null	Het
Taok3	C	A	5: 117,250,909	Q460K	probably damaging	Het
Twf2	A	G	9: 106,214,398	E268G	probably damaging	Het
Upf2	A	T	2: 6,018,932	I698F	unknown	Het
Vmn2r35	T	A	7: 7,817,014	N86Y	probably damaging	Het
Vmn2r84	T	C	10: 130,392,113	T85A	possibly damaging	Het
Vps13d	A	G	4: 145,105,856	S2833P		Het
Xrn1	T	C	9: 96,051,629	S1584P	probably benign	Het
Zfp354b	T	C	11: 50,922,397	Y567C	probably damaging	Het
Zfp52	A	T	17: 21,560,870	R327*	probably null	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
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
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'- CCTACATAAGAGCAGGAGTCCC -3'
(R):5'- TGCCTGAAGATCTCTGAGTTGG -3'

Sequencing Primer
(F):5'- GGCTCGCAACCATCTGTAATGAG -3'
(R):5'- CCTGAAGATCTCTGAGTTGGCAAAG -3'

Posted On

2019-10-07