Mutagenetix > Incidental Mutation

Incidental Mutation 'R8790:Slc26a9'

670842

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

068634-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.805) question?

Stock #

R8790 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

131671760-131699242 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 131683155 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 200 (S200T)

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: S200T

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

SMART Domains

Protein: ENSMUSP00000036916
Gene: ENSMUSG00000042268
AA Change: S200T

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: 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 damaging
Transcript: ENSMUST00000186122
AA Change: S163T

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

SMART Domains

Protein: ENSMUSP00000141171
Gene: ENSMUSG00000042268
AA Change: S163T

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

100% (83/83)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	G	A	10: 78,928,285 (GRCm39)	P68S	possibly damaging	Het
Abcb5	T	A	12: 118,831,620 (GRCm39)	N1244I	possibly damaging	Het
Abcb9	A	G	5: 124,215,304 (GRCm39)	I479T	probably damaging	Het
Abi3bp	A	T	16: 56,495,437 (GRCm39)	I920F	probably damaging	Het
Adcy6	T	A	15: 98,496,881 (GRCm39)	T465S	probably damaging	Het
Ankrd12	A	T	17: 66,290,153 (GRCm39)	I1760N	possibly damaging	Het
Aoah	C	T	13: 21,035,840 (GRCm39)	R140C	probably benign	Het
Bmp7	T	A	2: 172,712,060 (GRCm39)	D388V	probably benign	Het
Bphl	C	T	13: 34,244,468 (GRCm39)	A195V	probably benign	Het
Cckar	A	G	5: 53,857,291 (GRCm39)	V373A	probably damaging	Het
Cd79b	T	G	11: 106,202,873 (GRCm39)	D243A	possibly damaging	Het
Cdc25a	T	A	9: 109,716,416 (GRCm39)		probably null	Het
Cfap57	T	A	4: 118,439,111 (GRCm39)	Q805L	possibly damaging	Het
Ckap2l	A	T	2: 129,111,172 (GRCm39)	M675K	possibly damaging	Het
Cluap1	T	A	16: 3,735,787 (GRCm39)		probably benign	Het
Cyp2b9	A	G	7: 25,898,167 (GRCm39)		probably benign	Het
D930020B18Rik	G	A	10: 121,503,568 (GRCm39)	G248S	possibly damaging	Het
Ddx1	A	T	12: 13,273,993 (GRCm39)	I570N	probably damaging	Het
Dmkn	G	A	7: 30,463,449 (GRCm39)	S34N	probably benign	Het
Dnaaf2	T	C	12: 69,244,068 (GRCm39)	D331G	probably damaging	Het
Dnah1	A	T	14: 31,018,232 (GRCm39)	Y1429N	possibly damaging	Het
Dnajc5b	T	A	3: 19,600,981 (GRCm39)	L26Q	probably damaging	Het
Epb41l1	T	G	2: 156,345,722 (GRCm39)	F242V	possibly damaging	Het
Esam	A	T	9: 37,442,927 (GRCm39)	I72F	probably benign	Het
Fam110a	C	T	2: 151,812,338 (GRCm39)	R144H	probably damaging	Het
Fam186a	T	C	15: 99,841,024 (GRCm39)	D1740G	possibly damaging	Het
Fam98a	A	G	17: 75,854,684 (GRCm39)	F42L	possibly damaging	Het
Fras1	C	T	5: 96,903,236 (GRCm39)	P3038S	probably damaging	Het
Gm32742	C	A	9: 51,059,140 (GRCm39)	G1035C	probably damaging	Het
Irf5	T	A	6: 29,535,026 (GRCm39)		probably benign	Het
Jam2	T	A	16: 84,606,259 (GRCm39)	I91K	possibly damaging	Het
Klhdc3	A	G	17: 46,991,626 (GRCm39)		probably benign	Het
Lgi1	C	T	19: 38,289,296 (GRCm39)	S215F	possibly damaging	Het
Lrp1	G	A	10: 127,374,946 (GRCm39)	T4504I	probably damaging	Het
Mafa	T	A	15: 75,619,224 (GRCm39)	H183L	probably benign	Het
Map2	T	C	1: 66,477,997 (GRCm39)	V1773A	probably damaging	Het
Mesp1	G	A	7: 79,442,825 (GRCm39)	R151*	probably null	Het
Mphosph9	T	C	5: 124,453,736 (GRCm39)	D192G	probably damaging	Het
Mthfr	C	A	4: 148,139,991 (GRCm39)	D678E	probably benign	Het
Myo15a	A	C	11: 60,367,362 (GRCm39)	T41P	possibly damaging	Het
Myo15a	G	T	11: 60,378,047 (GRCm39)	R185L		Het
Myom2	T	G	8: 15,169,242 (GRCm39)	L1136W	probably damaging	Het
Naa30	A	G	14: 49,418,208 (GRCm39)	D316G	probably benign	Het
Ngef	T	C	1: 87,405,319 (GRCm39)	Q697R	probably benign	Het
Nin	T	C	12: 70,067,793 (GRCm39)	R1945G		Het
Obox8	A	T	7: 14,066,908 (GRCm39)	Y45*	probably null	Het
Ocln	C	T	13: 100,642,727 (GRCm39)	V452I	probably benign	Het
Oog3	T	A	4: 143,885,710 (GRCm39)	D296V	possibly damaging	Het
Or5a1	T	C	19: 12,097,906 (GRCm39)	N57D	probably damaging	Het
Or5h19	T	C	16: 58,856,580 (GRCm39)	I173M	possibly damaging	Het
Or8g4	T	A	9: 39,662,204 (GRCm39)	I174K	probably damaging	Het
Or8k35	T	C	2: 86,424,278 (GRCm39)	K298R	possibly damaging	Het
Papln	T	C	12: 83,823,918 (GRCm39)	V499A	probably benign	Het
Paxip1	G	T	5: 27,977,078 (GRCm39)	P328Q	unknown	Het
Pcnx2	T	C	8: 126,604,306 (GRCm39)	H650R	probably benign	Het
Pcnx3	A	T	19: 5,735,206 (GRCm39)	V540E	possibly damaging	Het
Pnpla5	C	T	15: 84,002,819 (GRCm39)	G255R	probably damaging	Het
Ppdpf	G	T	2: 180,829,646 (GRCm39)	E34*	probably null	Het
Pum3	T	C	19: 27,394,199 (GRCm39)	Y357C	probably damaging	Het
R3hdm2	T	G	10: 127,293,521 (GRCm39)	S142A	probably damaging	Het
Rasa3	A	T	8: 13,727,391 (GRCm39)		probably null	Het
Rcor2	T	A	19: 7,246,340 (GRCm39)	M5K	possibly damaging	Het
Rere	A	G	4: 150,593,332 (GRCm39)	T309A	unknown	Het
Ryr1	A	T	7: 28,776,297 (GRCm39)	I2250N	probably damaging	Het
Sema6c	T	C	3: 95,075,341 (GRCm39)	V130A	probably benign	Het
Slc38a10	A	G	11: 120,023,519 (GRCm39)	L299P	possibly damaging	Het
Smim10l1	G	T	6: 133,084,848 (GRCm39)	V72L	unknown	Het
Sptbn2	C	A	19: 4,782,052 (GRCm39)	F430L	probably damaging	Het
Svep1	T	A	4: 58,118,145 (GRCm39)	Y859F	possibly damaging	Het
Svil	C	A	18: 5,056,098 (GRCm39)	Q324K	possibly damaging	Het
Tgfb1i1	A	T	7: 127,852,049 (GRCm39)	D377V	probably damaging	Het
Tmed10	C	A	12: 85,390,254 (GRCm39)	W203L	probably damaging	Het
Tmem51	T	A	4: 141,765,056 (GRCm39)	M1L	possibly damaging	Het
Tmprss11e	A	G	5: 86,855,259 (GRCm39)	V382A	probably benign	Het
Tnfrsf13b	G	T	11: 61,038,350 (GRCm39)	R211L	possibly damaging	Het
Tns3	A	G	11: 8,468,273 (GRCm39)	V317A	probably damaging	Het
Top3a	G	A	11: 60,631,363 (GRCm39)	P1000S	possibly damaging	Het
Traj32	A	T	14: 54,423,587 (GRCm39)	I10F		Het
Trav8-1	T	A	14: 53,707,677 (GRCm39)	C106S	probably damaging	Het
Trbv2	A	G	6: 41,024,655 (GRCm39)	I24V	probably benign	Het
Ubap2	A	G	4: 41,209,351 (GRCm39)		probably null	Het
Vmn2r97	T	A	17: 19,160,472 (GRCm39)	C536S	probably damaging	Het
Zfp879	G	T	11: 50,723,429 (GRCm39)	C542*	probably null	Het
Znfx1	C	T	2: 166,892,500 (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
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
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
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'- AGCTCATAGTGAGTGGCAGG -3'
(R):5'- ATCAGGATGAATAGTTCACCACTCC -3'

Sequencing Primer
(F):5'- CTCATAGTGAGTGGCAGGGAAAG -3'
(R):5'- ACTCCTAAGGATGTGAACTCTGC -3'

Posted On

2021-04-30