Mutagenetix > Incidental Mutation

Incidental Mutation 'R3978:Slc26a3'

311143

Institutional Source

Beutler Lab

Gene Symbol

Slc26a3

Ensembl Gene

ENSMUSG00000001225

Gene Name

solute carrier family 26, member 3

Synonyms

9130013M11Rik, 9030623B18Rik, Dra

MMRRC Submission

040941-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.759) question?

Stock #

R3978 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31483141-31523921 bp(+) (GRCm39)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

T to A at 31515859 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000001254 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001254] [ENSMUST00000171616]

AlphaFold

Q9WVC8

Predicted Effect

probably null
Transcript: ENSMUST00000001254

SMART Domains

Protein: ENSMUSP00000001254
Gene: ENSMUSG00000001225

Domain	Start	End	E-Value	Type
Pfam:Sulfate_transp	73	468	3.1e-115	PFAM
low complexity region	475	481	N/A	INTRINSIC
Pfam:STAS	519	709	2e-40	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000171616

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

100% (65/65)

MGI Phenotype

FUNCTION: This gene encodes a member of the solute carrier/sulfate transporter family. The encoded protein is predominantly expressed in the intestine where it is essential for chloride absorption. Disruption of this gene results in chloride-rich diarrhea and compensatory up-regulation of ion-absorbing transporters. [provided by RefSeq, Dec 2012]
PHENOTYPE: Homozygotes for a null allele display partial postnatal lethality; survivors are small and show lower luminal Cl-/HCO3- exchange activity, acidic chloridorrhea, volume depletion, upregulation of ion transporters, dilated colons, higher crypt proliferation and plasma aldosterone, and premature death. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	T	C	3: 137,889,435 (GRCm39)	T61A	probably benign	Het
Adam28	A	G	14: 68,848,443 (GRCm39)	V671A	probably benign	Het
Ankhd1	A	T	18: 36,780,666 (GRCm39)	H1906L	probably damaging	Het
Ano5	G	A	7: 51,237,554 (GRCm39)	V743I	probably benign	Het
Arfgef1	A	G	1: 10,279,859 (GRCm39)	V236A	probably benign	Het
Arid2	A	G	15: 96,261,503 (GRCm39)	D453G	probably damaging	Het
Atp2b1	C	A	10: 98,832,795 (GRCm39)		probably null	Het
Azin1	A	T	15: 38,498,957 (GRCm39)	N135K	probably damaging	Het
B020004C17Rik	G	T	14: 57,254,645 (GRCm39)	M156I	possibly damaging	Het
Cfap54	T	C	10: 92,798,274 (GRCm39)	T1662A	probably benign	Het
Cog8	T	A	8: 107,779,669 (GRCm39)	I203F	probably damaging	Het
Col6a6	T	C	9: 105,576,078 (GRCm39)	H2094R	probably damaging	Het
Cybb	T	C	X: 9,310,827 (GRCm39)	Y425C	probably damaging	Het
Dab2	A	G	15: 6,464,644 (GRCm39)		probably null	Het
Dpyd	AAAT	AAATGTATATAAAT	3: 118,690,737 (GRCm39)		probably benign	Het
Dpyd	AAT	AATGTATATATAT	3: 118,690,738 (GRCm39)		probably benign	Het
Eif3i	T	C	4: 129,486,129 (GRCm39)	E276G	probably damaging	Het
Fam171a1	A	C	2: 3,226,072 (GRCm39)	M402L	probably benign	Het
Fga	A	T	3: 82,937,490 (GRCm39)		probably null	Het
Foxp2	A	G	6: 15,197,207 (GRCm39)		probably benign	Het
Gbp2	C	T	3: 142,335,747 (GRCm39)	T149I	possibly damaging	Het
Gm9631	A	G	11: 121,834,394 (GRCm39)	Y281H	possibly damaging	Het
Gpr21	C	T	2: 37,407,862 (GRCm39)	T136I	probably benign	Het
Gprc5b	C	T	7: 118,583,354 (GRCm39)	V172M	probably damaging	Het
Gprc6a	C	A	10: 51,497,197 (GRCm39)	V449L	probably benign	Het
Hdlbp	T	C	1: 93,349,073 (GRCm39)	I535V	probably damaging	Het
Helb	A	G	10: 119,925,530 (GRCm39)	V949A	probably benign	Het
Hoxc13	T	C	15: 102,829,675 (GRCm39)	V18A	possibly damaging	Het
Hr	A	G	14: 70,801,024 (GRCm39)	T699A	probably benign	Het
Il27ra	G	A	8: 84,767,313 (GRCm39)	T170I	probably benign	Het
Insm2	T	C	12: 55,647,623 (GRCm39)	Y456H	probably benign	Het
Katna1	T	C	10: 7,628,518 (GRCm39)	M249T	probably damaging	Het
Lin9	T	A	1: 180,496,357 (GRCm39)	I298N	possibly damaging	Het
Lyst	G	A	13: 13,808,753 (GRCm39)	R141Q	possibly damaging	Het
Nos3	T	A	5: 24,582,929 (GRCm39)	D685E	probably damaging	Het
Oasl1	C	T	5: 115,070,957 (GRCm39)	T274I	probably damaging	Het
Or5p61	A	G	7: 107,758,819 (GRCm39)	M87T	possibly damaging	Het
Pdgfrb	A	T	18: 61,206,757 (GRCm39)	H661L	probably damaging	Het
Ppfia2	A	G	10: 106,666,490 (GRCm39)	T399A	possibly damaging	Het
Ppp1ca	T	C	19: 4,242,253 (GRCm39)	I13T	probably benign	Het
Psmd1	T	C	1: 86,055,909 (GRCm39)	M757T	probably benign	Het
Rdh19	A	T	10: 127,685,944 (GRCm39)	R19W	possibly damaging	Het
Rfx7	A	G	9: 72,522,393 (GRCm39)	T296A	possibly damaging	Het
Rgl2	G	A	17: 34,154,136 (GRCm39)	R472H	probably benign	Het
Rhcg	T	C	7: 79,267,147 (GRCm39)	E43G	probably benign	Het
Rif1	T	A	2: 52,006,759 (GRCm39)		probably null	Het
Rorb	A	G	19: 18,915,254 (GRCm39)	V468A	probably benign	Het
Rxrb	C	T	17: 34,255,300 (GRCm39)	P209L	possibly damaging	Het
Sbf2	G	T	7: 109,929,092 (GRCm39)	T1438K	probably benign	Het
Setd3	A	T	12: 108,124,201 (GRCm39)	C163S	possibly damaging	Het
Slc15a1	C	T	14: 121,727,239 (GRCm39)	D110N	probably benign	Het
Slc5a5	A	G	8: 71,342,039 (GRCm39)	V305A	probably benign	Het
Slc6a6	A	T	6: 91,732,033 (GRCm39)	M621L	probably benign	Het
Smgc	A	T	15: 91,744,546 (GRCm39)	D301V	probably damaging	Het
Spata31d1c	A	G	13: 65,182,974 (GRCm39)	D172G	possibly damaging	Het
Syt15	T	A	14: 33,945,061 (GRCm39)	C203S	probably benign	Het
Tdrd1	A	G	19: 56,855,066 (GRCm39)	R1171G	probably benign	Het
Trp63	A	G	16: 25,639,490 (GRCm39)		probably benign	Het
Tspan9	A	G	6: 127,944,210 (GRCm39)	V30A	probably damaging	Het
Ubp1	A	T	9: 113,785,773 (GRCm39)		probably null	Het
Vmn2r68	T	A	7: 84,881,670 (GRCm39)	Y470F	probably benign	Het
Wbp1l	T	A	19: 46,642,396 (GRCm39)		probably null	Het
Wee1	G	T	7: 109,723,762 (GRCm39)	D226Y	probably damaging	Het
Yap1	C	T	9: 8,004,285 (GRCm39)	G36D	probably damaging	Het
Zmym6	T	C	4: 127,017,348 (GRCm39)	I951T	possibly damaging	Het

Other mutations in Slc26a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01446:Slc26a3	APN	12	31,502,490 (GRCm39)	splice site	probably benign
IGL01717:Slc26a3	APN	12	31,513,476 (GRCm39)	missense	probably benign	0.11
IGL02151:Slc26a3	APN	12	31,497,830 (GRCm39)	missense	probably damaging	0.99
IGL02374:Slc26a3	APN	12	31,520,832 (GRCm39)	splice site	probably benign
IGL02445:Slc26a3	APN	12	31,507,051 (GRCm39)	missense	possibly damaging	0.65
IGL02526:Slc26a3	APN	12	31,507,095 (GRCm39)	missense	probably damaging	1.00
IGL02831:Slc26a3	APN	12	31,502,628 (GRCm39)	missense	probably damaging	1.00
PIT4486001:Slc26a3	UTSW	12	31,520,949 (GRCm39)	missense	probably benign	0.01
R0422:Slc26a3	UTSW	12	31,515,848 (GRCm39)	missense	possibly damaging	0.90
R0544:Slc26a3	UTSW	12	31,497,739 (GRCm39)	missense	probably benign
R0781:Slc26a3	UTSW	12	31,515,812 (GRCm39)	missense	possibly damaging	0.90
R1561:Slc26a3	UTSW	12	31,516,451 (GRCm39)	missense	probably benign	0.18
R1860:Slc26a3	UTSW	12	31,515,845 (GRCm39)	missense	probably benign
R1954:Slc26a3	UTSW	12	31,500,815 (GRCm39)	missense	probably damaging	0.98
R1967:Slc26a3	UTSW	12	31,515,777 (GRCm39)	missense	probably damaging	0.99
R2240:Slc26a3	UTSW	12	31,507,071 (GRCm39)	missense	probably damaging	1.00
R2508:Slc26a3	UTSW	12	31,520,902 (GRCm39)	missense	probably damaging	0.99
R3894:Slc26a3	UTSW	12	31,514,719 (GRCm39)	missense	probably damaging	1.00
R3914:Slc26a3	UTSW	12	31,503,905 (GRCm39)	missense	probably benign	0.00
R4701:Slc26a3	UTSW	12	31,497,773 (GRCm39)	missense	probably damaging	1.00
R4713:Slc26a3	UTSW	12	31,507,079 (GRCm39)	missense	possibly damaging	0.75
R5024:Slc26a3	UTSW	12	31,503,907 (GRCm39)	missense	probably benign
R5058:Slc26a3	UTSW	12	31,520,964 (GRCm39)	missense	possibly damaging	0.66
R5168:Slc26a3	UTSW	12	31,518,553 (GRCm39)	missense	possibly damaging	0.81
R5361:Slc26a3	UTSW	12	31,500,980 (GRCm39)	critical splice donor site	probably null
R5715:Slc26a3	UTSW	12	31,498,842 (GRCm39)	critical splice donor site	probably null
R5951:Slc26a3	UTSW	12	31,502,714 (GRCm39)	intron	probably benign
R6662:Slc26a3	UTSW	12	31,507,345 (GRCm39)	nonsense	probably null
R6895:Slc26a3	UTSW	12	31,513,523 (GRCm39)	missense	probably damaging	0.96
R7069:Slc26a3	UTSW	12	31,500,934 (GRCm39)	missense	probably damaging	0.96
R7484:Slc26a3	UTSW	12	31,497,787 (GRCm39)	missense	probably benign	0.22
R7744:Slc26a3	UTSW	12	31,513,464 (GRCm39)	critical splice acceptor site	probably null
R8192:Slc26a3	UTSW	12	31,518,541 (GRCm39)	missense	probably benign	0.05
R8327:Slc26a3	UTSW	12	31,516,430 (GRCm39)	missense	possibly damaging	0.81
R8356:Slc26a3	UTSW	12	31,516,505 (GRCm39)	missense	probably benign	0.06
R8371:Slc26a3	UTSW	12	31,502,541 (GRCm39)	missense	probably damaging	1.00
R8550:Slc26a3	UTSW	12	31,511,739 (GRCm39)	missense	probably damaging	1.00
R9057:Slc26a3	UTSW	12	31,520,958 (GRCm39)	missense	probably benign	0.00
R9221:Slc26a3	UTSW	12	31,513,470 (GRCm39)	missense	possibly damaging	0.95
R9484:Slc26a3	UTSW	12	31,511,785 (GRCm39)	missense	probably damaging	0.98
R9746:Slc26a3	UTSW	12	31,499,145 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGCTAGTTACTATCGTCACATTCTG -3'
(R):5'- AGCAGCAGGATTTGAGGTAC -3'

Sequencing Primer
(F):5'- CGTCACATTCTGTAACTCTGAGGATG -3'
(R):5'- CCTCAAATATGACATTGGGGCTG -3'

Posted On

2015-04-29