Mutagenetix > Incidental Mutation

Incidental Mutation 'R4657:Slc26a9'

352482

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

041917-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.805) question?

Stock #

R4657 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

131671760-131699242 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 131680876 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 95 (L95P)

Ref Sequence

ENSEMBL: ENSMUSP00000122075 (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: L95P

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

SMART Domains

Protein: ENSMUSP00000036916
Gene: ENSMUSG00000042268
AA Change: L95P

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 damaging
Transcript: ENSMUST00000147800
AA Change: L95P

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

SMART Domains

Protein: ENSMUSP00000122075
Gene: ENSMUSG00000042268
AA Change: L95P

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

Meta Mutation Damage Score

0.8275

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.6%

Validation Efficiency

98% (105/107)

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	A	T	11: 119,904,304 (GRCm39)	V264E	possibly damaging	Het
Abcg1	T	A	17: 31,327,408 (GRCm39)	W368R	probably benign	Het
Acin1	A	G	14: 54,880,504 (GRCm39)	I476T	possibly damaging	Het
Acsm1	T	A	7: 119,239,917 (GRCm39)	I287N	possibly damaging	Het
Adgrv1	C	T	13: 81,553,483 (GRCm39)	V5464I	probably benign	Het
AI429214	T	A	8: 37,461,545 (GRCm39)	L231Q	probably damaging	Het
Akp3	A	G	1: 87,053,556 (GRCm39)		probably benign	Het
Amy2b	C	T	3: 113,060,793 (GRCm39)		noncoding transcript	Het
Apoa5	A	G	9: 46,181,170 (GRCm39)	Q82R	probably benign	Het
Arhgap44	A	G	11: 64,896,278 (GRCm39)		probably null	Het
Arhgef38	C	A	3: 132,940,442 (GRCm39)	G48V	probably damaging	Het
Bltp3a	T	A	17: 28,109,079 (GRCm39)	F1099L	probably benign	Het
Bod1l	G	T	5: 41,975,955 (GRCm39)	N1786K	probably benign	Het
Cav2	A	T	6: 17,281,409 (GRCm39)	D17V	probably null	Het
Ccdc148	G	T	2: 58,891,900 (GRCm39)	N238K	probably benign	Het
Ccin	A	T	4: 43,984,981 (GRCm39)	I463F	probably damaging	Het
Cd8b1	C	T	6: 71,306,758 (GRCm39)	H162Y	possibly damaging	Het
Cdh16	T	A	8: 105,341,858 (GRCm39)		probably null	Het
Cfap65	T	A	1: 74,964,513 (GRCm39)		probably benign	Het
Clec4n	T	C	6: 123,209,155 (GRCm39)		probably null	Het
Cpne7	T	A	8: 123,861,314 (GRCm39)	*558R	probably null	Het
Cs	A	G	10: 128,189,006 (GRCm39)	I172V	probably benign	Het
Cyp2ab1	A	T	16: 20,131,822 (GRCm39)	L306Q	probably damaging	Het
D16Ertd472e	A	T	16: 78,344,814 (GRCm39)	V98E	probably damaging	Het
Dcaf15	A	C	8: 84,829,467 (GRCm39)	S92A	probably damaging	Het
Dkk3	T	C	7: 111,748,253 (GRCm39)		probably null	Het
Dnah11	A	T	12: 118,156,162 (GRCm39)	C163S	probably benign	Het
Eda2r	T	A	X: 96,385,239 (GRCm39)	Q171L	probably damaging	Het
Eml4	A	T	17: 83,758,377 (GRCm39)	K397*	probably null	Het
Eml6	A	T	11: 29,755,108 (GRCm39)	I889N	possibly damaging	Het
Etaa1	A	T	11: 17,896,964 (GRCm39)	D384E	possibly damaging	Het
Fzr1	T	A	10: 81,203,386 (GRCm39)		probably null	Het
Gm13889	G	T	2: 93,786,921 (GRCm39)	F61L	probably damaging	Het
Gm14149	A	T	2: 151,072,684 (GRCm39)		noncoding transcript	Het
Gm5828	T	A	1: 16,839,642 (GRCm39)		noncoding transcript	Het
Gm5866	G	A	5: 52,740,262 (GRCm39)		noncoding transcript	Het
Gp2	T	C	7: 119,056,391 (GRCm39)	I27M	probably benign	Het
Gpr83	G	A	9: 14,778,279 (GRCm39)		probably null	Het
Gucd1	T	C	10: 75,346,959 (GRCm39)	N97S	probably benign	Het
H2bc27	C	T	11: 58,839,797 (GRCm39)	P11L	probably benign	Het
H2-Q7	T	A	17: 35,661,735 (GRCm39)	V326E	possibly damaging	Het
Haao	A	T	17: 84,139,774 (GRCm39)	D227E	possibly damaging	Het
Hipk3	C	T	2: 104,264,104 (GRCm39)	S819N	probably benign	Het
Hlcs	A	G	16: 94,063,557 (GRCm39)	V501A	probably benign	Het
Hmcn1	A	G	1: 150,500,301 (GRCm39)	Y3964H	probably damaging	Het
Ifi204	C	A	1: 173,587,927 (GRCm39)		probably benign	Het
Ifi211	A	G	1: 173,735,226 (GRCm39)	F68L	probably benign	Het
Ift57	A	G	16: 49,582,957 (GRCm39)		probably null	Het
Ighv5-12-4	A	T	12: 113,725,887 (GRCm39)	L112*	probably null	Het
Il1rl2	CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT	CTTTATTTTATTTTATTTTATTTTATTTTATTTTATT	1: 40,366,470 (GRCm39)		probably benign	Het
Il36a	T	A	2: 24,114,416 (GRCm39)	M97K	possibly damaging	Het
Itsn2	A	G	12: 4,763,197 (GRCm39)	*1686W	probably null	Het
Jkamp	G	T	12: 72,140,823 (GRCm39)	V123F	probably damaging	Het
Kat7	C	A	11: 95,168,424 (GRCm39)	V411L	probably damaging	Het
Kcnj5	A	G	9: 32,233,973 (GRCm39)	V114A	probably benign	Het
Krtap5-4	T	A	7: 141,857,491 (GRCm39)	C54S	unknown	Het
Lats1	T	A	10: 7,581,448 (GRCm39)	N744K	possibly damaging	Het
Lpo	T	C	11: 87,705,173 (GRCm39)	E387G	probably damaging	Het
Lrba	T	G	3: 86,644,471 (GRCm39)	M388R	probably damaging	Het
Lrp2	C	A	2: 69,297,337 (GRCm39)	R3208L	probably damaging	Het
Mterf1b	T	A	5: 4,247,176 (GRCm39)	C272*	probably null	Het
Myh15	A	T	16: 48,992,421 (GRCm39)	R1632*	probably null	Het
Myo3b	T	C	2: 70,069,243 (GRCm39)	V494A	possibly damaging	Het
Myo9a	T	C	9: 59,782,699 (GRCm39)		probably null	Het
Nelfa	T	G	5: 34,059,157 (GRCm39)	S233R	probably benign	Het
Nr4a3	A	T	4: 48,051,522 (GRCm39)	E121V	probably damaging	Het
Obscn	T	A	11: 58,933,116 (GRCm39)	E5406D	probably damaging	Het
Ofcc1	G	A	13: 40,168,864 (GRCm39)	T841I	probably damaging	Het
Or1j18	T	A	2: 36,624,415 (GRCm39)	Y27*	probably null	Het
Or7e177	A	C	9: 20,211,919 (GRCm39)	H142P	probably damaging	Het
Oxct2b	T	C	4: 123,010,926 (GRCm39)	L282P	probably damaging	Het
Pappa	G	A	4: 65,233,033 (GRCm39)		probably null	Het
Pcdhb14	A	G	18: 37,581,900 (GRCm39)	I335M	possibly damaging	Het
Pcsk1	T	A	13: 75,280,354 (GRCm39)	D726E	probably damaging	Het
Pkhd1	T	A	1: 20,434,391 (GRCm39)	Q2349L	possibly damaging	Het
Pkhd1l1	G	A	15: 44,410,743 (GRCm39)	C2750Y	probably damaging	Het
Ppp2r3d	A	G	9: 124,476,821 (GRCm38)	C26R	unknown	Het
Prex2	T	A	1: 11,136,049 (GRCm39)	I74N	probably benign	Het
Ptgir	A	G	7: 16,641,071 (GRCm39)	D121G	probably benign	Het
Pwwp3a	T	A	10: 80,068,848 (GRCm39)	C331S	probably benign	Het
Ralbp1	T	C	17: 66,159,686 (GRCm39)	S526G	probably null	Het
Ric8b	T	C	10: 84,828,001 (GRCm39)	Y442H	probably damaging	Het
Rpap1	C	T	2: 119,605,487 (GRCm39)	D385N	probably benign	Het
Sash1	T	C	10: 8,601,424 (GRCm39)	Y1177C	probably damaging	Het
Shroom1	T	C	11: 53,356,415 (GRCm39)	I363T	possibly damaging	Het
Slc44a5	A	G	3: 153,962,221 (GRCm39)	T385A	possibly damaging	Het
Slc5a9	C	A	4: 111,748,941 (GRCm39)		probably null	Het
Slc7a1	T	A	5: 148,289,209 (GRCm39)	M13L	probably benign	Het
Snrpb2	A	G	2: 142,912,893 (GRCm39)	N172S	possibly damaging	Het
Spns1	G	T	7: 125,973,474 (GRCm39)		probably benign	Het
Srsf6	T	A	2: 162,775,347 (GRCm39)	S86R	probably benign	Het
Stk25	A	T	1: 93,553,378 (GRCm39)		probably benign	Het
Szt2	A	T	4: 118,254,866 (GRCm39)	C275S	probably benign	Het
Tcp10b	T	A	17: 13,292,504 (GRCm39)		probably null	Het
Tmem248	T	A	5: 130,260,615 (GRCm39)	L60H	probably damaging	Het
Trim27	T	C	13: 21,367,930 (GRCm39)	I182T	probably damaging	Het
Tspan10	A	G	11: 120,335,324 (GRCm39)	N145D	probably damaging	Het
Vps13d	A	G	4: 144,801,412 (GRCm39)	F487S	probably damaging	Het
Wdr86	A	T	5: 24,923,229 (GRCm39)	D154E	probably benign	Het
Wfdc18	C	A	11: 83,600,695 (GRCm39)	A32D	possibly damaging	Het
Wrn	A	T	8: 33,826,019 (GRCm39)		probably null	Het
Zfp811	C	A	17: 33,019,897 (GRCm39)	E7*	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
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
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'- TGTATCCAGGTGCCACAAGG -3'
(R):5'- GATGCAGCAACCATCCTTTCAG -3'

Sequencing Primer
(F):5'- TGCCACAAGGTGAGAGTACCC -3'
(R):5'- AGCAACCATCCTTTCAGGTCGG -3'

Posted On

2015-10-08