Mutagenetix > Incidental Mutations

Incidental Mutation 'R0018:Slc26a6'

8370

Institutional Source

Beutler Lab

Gene Symbol

Slc26a6

Ensembl Gene

ENSMUSG00000023259

Gene Name

solute carrier family 26, member 6

Synonyms

Pat1, B930010B04Rik, CFEX

MMRRC Submission

038313-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.118) question?

Stock #

R0018 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

108853283-108913049 bp(+) (GRCm38)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

G to T at 108858922 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142250 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098376] [ENSMUST00000188557] [ENSMUST00000192507] [ENSMUST00000192559] [ENSMUST00000193291] [ENSMUST00000193874]

AlphaFold

Q8CIW6

Predicted Effect

probably null
Transcript: ENSMUST00000098376

SMART Domains

Protein: ENSMUSP00000095979
Gene: ENSMUSG00000023259

Domain	Start	End	E-Value	Type
Pfam:Sulfate_transp	69	458	4.4e-113	PFAM
low complexity region	471	484	N/A	INTRINSIC
PDB:3LLO\|A	489	546	2e-16	PDB
low complexity region	554	593	N/A	INTRINSIC
low complexity region	638	650	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000188557

SMART Domains

Protein: ENSMUSP00000140849
Gene: ENSMUSG00000023259

Domain	Start	End	E-Value	Type
Pfam:Sulfate_tra_GLY	54	137	4.1e-33	PFAM
Pfam:Sulfate_transp	176	454	1.9e-67	PFAM
low complexity region	471	484	N/A	INTRINSIC
PDB:3LLO\|A	489	546	6e-16	PDB
low complexity region	554	593	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000192507

SMART Domains

Protein: ENSMUSP00000141336
Gene: ENSMUSG00000023259

Domain	Start	End	E-Value	Type
Pfam:Sulfate_tra_GLY	54	137	4.1e-33	PFAM
Pfam:Sulfate_transp	176	454	1.9e-67	PFAM
low complexity region	471	484	N/A	INTRINSIC
PDB:3LLO\|A	489	546	6e-16	PDB
low complexity region	554	593	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000192559

SMART Domains

Protein: ENSMUSP00000141632
Gene: ENSMUSG00000023259

Domain	Start	End	E-Value	Type
Pfam:Sulfate_tra_GLY	54	137	7.7e-34	PFAM
Pfam:Sulfate_transp	176	225	1.8e-5	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000193291

SMART Domains

Protein: ENSMUSP00000142250
Gene: ENSMUSG00000023259

Domain	Start	End	E-Value	Type
Pfam:Sulfate_tra_GLY	54	137	4.1e-33	PFAM
Pfam:Sulfate_transp	176	454	1.9e-67	PFAM
low complexity region	471	484	N/A	INTRINSIC
PDB:3LLO\|A	489	546	6e-16	PDB
low complexity region	554	593	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193463

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193825

Predicted Effect

probably benign
Transcript: ENSMUST00000193874

SMART Domains

Protein: ENSMUSP00000141409
Gene: ENSMUSG00000023259

Domain	Start	End	E-Value	Type
Pfam:Sulfate_tra_GLY	54	137	7.7e-34	PFAM
Pfam:Sulfate_transp	176	225	1.8e-5	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195646

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 82.8%
3x: 76.3%
10x: 59.3%
20x: 41.5%

Validation Efficiency

90% (80/89)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the solute carrier 26 family, whose members encode anion transporter proteins. This particular family member encodes a protein involved in transporting chloride, oxalate, sulfate and bicarbonate. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Aug 2013]
PHENOTYPE: Homozygous null mice display abnormal proximal tubule and duodenal anion exchange, but are otherwise normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp2b4	T	A	1: 133,717,871	I982F	probably damaging	Het
BC024139	G	A	15: 76,120,887	Q592*	probably null	Het
Capn7	T	A	14: 31,354,112	C290*	probably null	Het
Celsr1	T	A	15: 86,031,042	D910V	possibly damaging	Het
Cpne2	T	A	8: 94,556,053	C59S	possibly damaging	Het
Cyp2b13	G	A	7: 26,085,950	R248H	probably benign	Het
Dennd1a	T	A	2: 37,858,460	T336S	possibly damaging	Het
Drc7	A	G	8: 95,074,234	Y628C	probably damaging	Het
Dse	A	G	10: 34,153,468	V542A	probably benign	Het
Gria4	A	G	9: 4,432,843	L780P	possibly damaging	Het
Gsx2	A	G	5: 75,077,167	K260R	probably damaging	Het
Kat6a	A	G	8: 22,929,273	D684G	possibly damaging	Het
Kif27	T	G	13: 58,288,053	I1309L	probably benign	Het
Me2	A	T	18: 73,791,852	F265I	possibly damaging	Het
Myo9a	A	T	9: 59,871,724	T1588S	probably benign	Het
Neu4	T	A	1: 94,025,338	D476E	probably benign	Het
Nlrp9c	T	A	7: 26,371,998	Q895L	possibly damaging	Het
Nudt8	C	T	19: 4,001,152		probably benign	Het
Ppfia2	A	G	10: 106,842,786		probably benign	Het
Prkdc	T	C	16: 15,726,542	Y1799H	probably benign	Het
Psmc1	T	C	12: 100,116,692		probably benign	Het
Pus3	A	G	9: 35,566,624	D384G	probably benign	Het
Rasa2	A	G	9: 96,571,963	S307P	probably damaging	Het
Rbpms2	A	G	9: 65,651,078	D142G	probably damaging	Het
Slc13a5	T	C	11: 72,266,475	I31V	probably benign	Het
Slc15a4	A	T	5: 127,602,010	I422N	probably damaging	Het
Ufm1	A	T	3: 53,859,196	I79N	probably benign	Het
Xdh	C	T	17: 73,925,025	R230H	probably benign	Het
Zfp418	A	T	7: 7,182,450	S471C	probably benign	Het

Other mutations in Slc26a6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00467:Slc26a6	APN	9	108855889	missense	probably benign
IGL02447:Slc26a6	APN	9	108857052	missense	probably benign	0.03
IGL03090:Slc26a6	APN	9	108860691	missense	probably benign	0.06
R0083:Slc26a6	UTSW	9	108859113	splice site	probably null
R0133:Slc26a6	UTSW	9	108861323	missense	possibly damaging	0.86
R0135:Slc26a6	UTSW	9	108860595	splice site	probably benign
R0563:Slc26a6	UTSW	9	108857670	missense	probably damaging	1.00
R0661:Slc26a6	UTSW	9	108859113	splice site	probably null
R1513:Slc26a6	UTSW	9	108855836	missense	probably benign	0.41
R1746:Slc26a6	UTSW	9	108861717	missense	probably benign	0.00
R2079:Slc26a6	UTSW	9	108859058	missense	probably damaging	0.97
R2939:Slc26a6	UTSW	9	108857037	missense	probably benign	0.05
R2940:Slc26a6	UTSW	9	108857037	missense	probably benign	0.05
R3833:Slc26a6	UTSW	9	108855918	missense	possibly damaging	0.86
R3861:Slc26a6	UTSW	9	108854196	unclassified	probably benign
R4175:Slc26a6	UTSW	9	108854217	unclassified	probably benign
R4358:Slc26a6	UTSW	9	108861783	missense	probably benign	0.00
R4403:Slc26a6	UTSW	9	108855938	missense	probably benign
R4598:Slc26a6	UTSW	9	108856380	missense	probably damaging	1.00
R4660:Slc26a6	UTSW	9	108861341	missense	probably damaging	0.96
R4663:Slc26a6	UTSW	9	108857907	missense	probably damaging	0.98
R5296:Slc26a6	UTSW	9	108860646	missense	probably damaging	1.00
R5390:Slc26a6	UTSW	9	108861300	splice site	probably benign
R5533:Slc26a6	UTSW	9	108857956	missense	probably damaging	1.00
R5662:Slc26a6	UTSW	9	108859339	missense	possibly damaging	0.94
R5845:Slc26a6	UTSW	9	108862083	missense	possibly damaging	0.46
R6547:Slc26a6	UTSW	9	108860782	splice site	probably null
R7079:Slc26a6	UTSW	9	108857948	missense	probably damaging	1.00
R7652:Slc26a6	UTSW	9	108855944	critical splice donor site	probably null
R8289:Slc26a6	UTSW	9	108856031	missense	probably benign	0.00
R8290:Slc26a6	UTSW	9	108856031	missense	probably benign	0.00

Posted On

2012-11-27