Mutagenetix > Incidental Mutation

Incidental Mutation 'R7214:Slc26a9'

561265

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

045286-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.778) question?

Stock #

R7214 (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 131687211 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 457 (R457W)

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: R457W

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000036916
Gene: ENSMUSG00000042268
AA Change: R457W

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 damaging
Transcript: ENSMUST00000186122
AA Change: R420W

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000141171
Gene: ENSMUSG00000042268
AA Change: R420W

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: 99.3%

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg5	C	T	8: 95,660,646 (GRCm39)	T95I		Het
Arap2	C	T	5: 62,906,681 (GRCm39)	V113I	probably benign	Het
Atraid	C	T	5: 31,209,590 (GRCm39)	Q85*	probably null	Het
Bcdin3d	T	C	15: 99,368,344 (GRCm39)	D285G	probably benign	Het
Bmal1	T	A	7: 112,898,610 (GRCm39)	I346K	probably benign	Het
Carmil3	T	C	14: 55,736,069 (GRCm39)	W604R	probably damaging	Het
Ccl6	C	T	11: 83,480,582 (GRCm39)		probably null	Het
Cct4	C	T	11: 22,940,616 (GRCm39)		probably benign	Het
Cd2ap	C	T	17: 43,156,285 (GRCm39)	R84Q	possibly damaging	Het
Cdt1	T	A	8: 123,295,012 (GRCm39)		probably null	Het
Cln3	C	T	7: 126,181,942 (GRCm39)	G40D	probably damaging	Het
Crlf3	T	C	11: 79,955,216 (GRCm39)	S47G	possibly damaging	Het
Csrp3	T	C	7: 48,480,385 (GRCm39)	K193R	probably benign	Het
Cxcl3	A	C	5: 90,934,219 (GRCm39)	E33A	probably damaging	Het
Cyp11b1	T	C	15: 74,708,708 (GRCm39)	D362G	probably benign	Het
Dnah2	T	C	11: 69,321,935 (GRCm39)	D3795G	probably damaging	Het
Dnah3	G	A	7: 119,521,965 (GRCm39)	A4076V	probably damaging	Het
Dnaja3	T	A	16: 4,519,046 (GRCm39)	I380N	possibly damaging	Het
Dock10	T	A	1: 80,546,246 (GRCm39)	H785L	probably benign	Het
Dop1b	T	G	16: 93,607,023 (GRCm39)	F2226V	possibly damaging	Het
Dscaml1	A	T	9: 45,581,437 (GRCm39)	I419F	probably benign	Het
Dyrk4	T	A	6: 126,862,200 (GRCm39)	I431F	probably benign	Het
Endog	C	T	2: 30,062,902 (GRCm39)	R181C	probably damaging	Het
Fam90a1a	A	T	8: 22,453,641 (GRCm39)	Y332F	probably benign	Het
Fastkd3	T	C	13: 68,737,499 (GRCm39)	I588T	probably benign	Het
Galnt9	G	A	5: 110,737,694 (GRCm39)	V217I	probably benign	Het
Gm973	A	T	1: 59,601,888 (GRCm39)	R501*	probably null	Het
Gnptab	C	T	10: 88,215,019 (GRCm39)		probably benign	Het
Gpn1	T	C	5: 31,660,761 (GRCm39)	F184S	probably damaging	Het
Imp3	G	T	9: 56,845,007 (GRCm39)	V73L	probably benign	Het
Ipo11	T	C	13: 107,032,365 (GRCm39)	D259G	probably null	Het
Jag1	T	C	2: 136,948,802 (GRCm39)	S142G	probably benign	Het
Klhl5	A	T	5: 65,289,098 (GRCm39)	E120V	probably benign	Het
Lct	C	A	1: 128,228,197 (GRCm39)	V1099L	probably benign	Het
Lrba	G	C	3: 86,235,633 (GRCm39)	W912C	probably damaging	Het
Lss	C	T	10: 76,383,305 (GRCm39)	T535I	probably damaging	Het
Mcts2	T	C	2: 152,529,297 (GRCm39)	I36T	probably benign	Het
Meikin	T	A	11: 54,302,738 (GRCm39)	N383K	probably benign	Het
Myo1g	T	C	11: 6,461,055 (GRCm39)	Y663C	probably damaging	Het
Nadk2	T	A	15: 9,108,342 (GRCm39)	M419K	probably damaging	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Nfat5	T	C	8: 108,020,515 (GRCm39)	S20P	probably damaging	Het
Nlrp1a	C	T	11: 71,014,119 (GRCm39)	C377Y	probably damaging	Het
Nlrp9a	T	C	7: 26,250,463 (GRCm39)	V76A	probably damaging	Het
Nrap	C	A	19: 56,366,567 (GRCm39)	A341S	probably benign	Het
Ntng2	T	C	2: 29,117,732 (GRCm39)	S239G	probably damaging	Het
Nup188	T	A	2: 30,197,566 (GRCm39)	C207S	possibly damaging	Het
Or10a4	T	C	7: 106,697,619 (GRCm39)	*316R	probably null	Het
Or10ak7	T	A	4: 118,791,146 (GRCm39)	I300F	possibly damaging	Het
Or1j17	T	C	2: 36,578,107 (GRCm39)	I31T	probably benign	Het
Or2ag1	T	C	7: 106,473,474 (GRCm39)		probably benign	Het
Or5b118	T	A	19: 13,448,337 (GRCm39)	M1K	probably null	Het
Or8c13	A	C	9: 38,091,318 (GRCm39)	V267G	probably damaging	Het
Or8k31-ps1	C	T	2: 86,356,150 (GRCm39)	V124I	probably damaging	Het
Pcdhgb2	C	A	18: 37,823,159 (GRCm39)	A50E	probably damaging	Het
Pgap1	A	T	1: 54,582,220 (GRCm39)	M209K	possibly damaging	Het
Plbd1	T	A	6: 136,589,829 (GRCm39)	D463V	probably damaging	Het
Plcg2	T	A	8: 118,310,288 (GRCm39)	I380N	probably damaging	Het
Pnpt1	T	C	11: 29,087,285 (GRCm39)	W184R	probably damaging	Het
Pptc7	G	A	5: 122,451,840 (GRCm39)	V202I	probably benign	Het
Prpf6	C	T	2: 181,282,389 (GRCm39)	A510V	probably damaging	Het
Prr5l	T	C	2: 101,559,777 (GRCm39)	Y235C	probably benign	Het
Ptprk	T	C	10: 28,450,905 (GRCm39)	V1022A	probably benign	Het
Rbl2	T	C	8: 91,810,057 (GRCm39)		probably null	Het
Rmnd1	T	C	10: 4,360,753 (GRCm39)	K348E	probably benign	Het
Rsf1	CGGCGGC	CGGCGGCGGGGGCGGC	7: 97,229,136 (GRCm39)		probably benign	Het
Sacs	T	A	14: 61,429,241 (GRCm39)	N433K	probably benign	Het
Scyl1	T	C	19: 5,810,057 (GRCm39)	T590A	probably benign	Het
Sdhd	A	G	9: 50,508,533 (GRCm39)	V111A	possibly damaging	Het
Sec24b	G	T	3: 129,827,509 (GRCm39)	P330Q	probably benign	Het
Serpinb6d	C	T	13: 33,848,128 (GRCm39)	P31S	probably damaging	Het
Slc5a8	G	A	10: 88,755,364 (GRCm39)	M490I	probably benign	Het
Slx4	A	G	16: 3,806,844 (GRCm39)	I533T	probably benign	Het
Slx4ip	T	A	2: 136,888,650 (GRCm39)	F110L	probably benign	Het
Smchd1	T	C	17: 71,652,359 (GRCm39)	R2000G	probably benign	Het
Snx8	T	C	5: 140,346,008 (GRCm39)	E75G	possibly damaging	Het
Stab2	C	A	10: 86,735,705 (GRCm39)	C1292F	probably damaging	Het
Swt1	A	T	1: 151,270,364 (GRCm39)	M617K	possibly damaging	Het
Thoc2l	A	G	5: 104,670,229 (GRCm39)	T1584A	probably benign	Het
Tiam2	T	A	17: 3,568,687 (GRCm39)	I1611N	possibly damaging	Het
Tmem63b	T	G	17: 45,972,748 (GRCm39)	N682T	probably benign	Het
Trio	C	T	15: 27,871,273 (GRCm39)	V674M	probably damaging	Het
Trpc3	G	A	3: 36,704,286 (GRCm39)	T557M	possibly damaging	Het
Vac14	T	G	8: 111,397,674 (GRCm39)	L463R	probably damaging	Het
Vmn2r43	C	T	7: 8,256,379 (GRCm39)		probably null	Het
Wdr49	A	T	3: 75,265,751 (GRCm39)	Y232N	possibly damaging	Het
Wdr90	T	C	17: 26,064,367 (GRCm39)	M1835V	probably benign	Het
Xpc	T	C	6: 91,469,320 (GRCm39)	E809G	probably damaging	Het
Zfhx3	A	T	8: 109,675,493 (GRCm39)	Q2181L	probably damaging	Het
Zfp442	T	C	2: 150,251,201 (GRCm39)	T234A	probably benign	Het
Zfp764	A	T	7: 127,004,450 (GRCm39)	M227K	probably benign	Het
Zfp764l1	A	G	7: 126,990,695 (GRCm39)	S431P	probably benign	Het
Zfp957	A	G	14: 79,450,750 (GRCm39)	S350P	unknown	Het
Zscan29	T	A	2: 120,999,761 (GRCm39)	K147*	probably null	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
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
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'- GGAACTTTTGCCTTGTCCTG -3'
(R):5'- AAAAGGGCTTTGCATCAGGC -3'

Sequencing Primer
(F):5'- TGTCCTGCCAGACTCCAG -3'
(R):5'- TTTGCATCAGGCCAGAGCTG -3'

Posted On

2019-06-26