Mutagenetix > Incidental Mutation

Incidental Mutation 'R5058:Slc26a3'

391043

Institutional Source

Beutler Lab

Gene Symbol

Slc26a3

Ensembl Gene

ENSMUSG00000001225

Gene Name

solute carrier family 26, member 3

Synonyms

9030623B18Rik, 9130013M11Rik, Dra

MMRRC Submission

042648-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.713) question?

Stock #

R5058 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31390871-31473917 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31470965 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 723 (K723E)

Ref Sequence

ENSEMBL: ENSMUSP00000001254 (fasta)

Gene Model

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

AlphaFold

Q9WVC8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000001254
AA Change: K723E

PolyPhen 2 Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000001254
Gene: ENSMUSG00000001225
AA Change: K723E

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

noncoding transcript
Transcript: ENSMUST00000109275

Predicted Effect

probably benign
Transcript: ENSMUST00000171616

Meta Mutation Damage Score

0.0934

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.2%

Validation Efficiency

100% (79/79)

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
Adprhl1	T	C	8: 13,242,625	Y222C	probably damaging	Het
Adprhl2	A	G	4: 126,318,445	S94P	probably damaging	Het
Atp11b	A	G	3: 35,809,361	E202G	probably benign	Het
Cacna1d	G	T	14: 30,114,244	S849*	probably null	Het
Camsap1	T	C	2: 25,939,363	D783G	probably benign	Het
Cbfa2t2	T	A	2: 154,504,745	I124N	probably damaging	Het
Ccdc13	A	T	9: 121,817,547		probably benign	Het
Cfap44	G	A	16: 44,420,204		probably null	Het
Col17a1	C	A	19: 47,685,550	E13*	probably null	Het
Cybb	C	G	X: 9,450,750	D246H	probably benign	Het
Dennd6b	A	G	15: 89,187,350	L288P	possibly damaging	Het
Dhx37	A	C	5: 125,422,231	Y638D	probably benign	Het
Epb41	G	A	4: 132,007,435		probably benign	Het
Esp31	A	T	17: 38,644,609	I48L	possibly damaging	Het
Fat3	T	C	9: 15,996,858	Q2616R	probably damaging	Het
Fbxo33	A	G	12: 59,219,133	I116T	probably benign	Het
Flnb	G	T	14: 7,924,262	E1792*	probably null	Het
Fzd2	G	A	11: 102,604,807	G26R	probably damaging	Het
Gm11677	T	A	11: 111,725,438		noncoding transcript	Het
Gm7137	A	T	10: 77,788,071		probably benign	Het
Hnrnpr	A	G	4: 136,336,337	T252A	possibly damaging	Het
Hyal5	T	C	6: 24,891,485	F433L	probably damaging	Het
Kcnmb4	T	A	10: 116,463,928		probably benign	Het
Meltf	A	G	16: 31,887,603		probably null	Het
Mllt6	G	A	11: 97,669,500	S210N	possibly damaging	Het
Muc6	T	C	7: 141,644,224	D1213G	probably benign	Het
Ncam1	A	C	9: 49,798,695	F12C	probably benign	Het
Nfxl1	A	T	5: 72,556,239	D120E	probably benign	Het
Nrg1	T	C	8: 31,824,559	Q142R	probably damaging	Het
Olfr132	G	A	17: 38,130,541	S217F	probably damaging	Het
Olfr180	T	C	16: 58,916,072	T190A	probably benign	Het
Olfr250	C	A	9: 38,367,924	T116K	probably damaging	Het
Olfr347	T	G	2: 36,734,999	L226R	possibly damaging	Het
Olfr466	C	A	13: 65,152,929	A235D	possibly damaging	Het
Olfr684	T	C	7: 105,157,148	N178S	probably damaging	Het
Olfr948	C	A	9: 39,318,664	V317L	probably benign	Het
Olfr95	A	G	17: 37,211,667	L62P	probably damaging	Het
Padi2	G	T	4: 140,932,121	V246L	probably benign	Het
Pgghg	C	T	7: 140,942,542	T63I	possibly damaging	Het
Pitpnm1	A	G	19: 4,112,758	N1117S	probably benign	Het
Plch1	G	T	3: 63,722,781	T534K	probably damaging	Het
Poc1a	G	T	9: 106,349,813		probably benign	Het
Polr3c	T	C	3: 96,723,517	I196V	probably benign	Het
Prph	A	T	15: 99,055,232		probably benign	Het
Ptprg	C	A	14: 12,037,387	T189K	possibly damaging	Het
R3hcc1	A	T	14: 69,704,014	I183N	probably damaging	Het
Rundc1	T	C	11: 101,425,537	L145P	probably benign	Het
Slc38a3	T	C	9: 107,659,191	E2G	possibly damaging	Het
Slc9a5	G	T	8: 105,355,858	V252L	probably benign	Het
Smim26	C	T	2: 144,595,123	T64M	probably benign	Het
Socs4	C	T	14: 47,290,132	R175*	probably null	Het
Srebf2	T	C	15: 82,182,050	S600P	probably damaging	Het
Tas2r107	A	T	6: 131,659,742	S115T	probably damaging	Het
Tenm2	T	C	11: 36,207,080	D447G	possibly damaging	Het
Thbs2	T	A	17: 14,676,329	D766V	probably damaging	Het
Tinagl1	A	G	4: 130,167,457	V300A	probably benign	Het
Tle6	T	A	10: 81,594,238	N332I	possibly damaging	Het
Tle6	C	A	10: 81,595,957	W151L	probably damaging	Het
Tnfrsf13c	C	T	15: 82,224,207	V36M	probably damaging	Het
Tns2	T	C	15: 102,107,860	I211T	possibly damaging	Het
Trp63	A	G	16: 25,882,594	N379D	probably damaging	Het
Trpc2	T	C	7: 102,089,109	W433R	probably damaging	Het
Tyw1	T	A	5: 130,277,086	L350Q	probably benign	Het
Usf3	T	C	16: 44,212,707	L76P	probably damaging	Het
Vmn2r79	T	C	7: 87,002,215	L274P	probably damaging	Het

Other mutations in Slc26a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01446:Slc26a3	APN	12	31452491	splice site	probably benign
IGL01717:Slc26a3	APN	12	31463477	missense	probably benign	0.11
IGL02151:Slc26a3	APN	12	31447831	missense	probably damaging	0.99
IGL02374:Slc26a3	APN	12	31470833	splice site	probably benign
IGL02445:Slc26a3	APN	12	31457052	missense	possibly damaging	0.65
IGL02526:Slc26a3	APN	12	31457096	missense	probably damaging	1.00
IGL02831:Slc26a3	APN	12	31452629	missense	probably damaging	1.00
PIT4486001:Slc26a3	UTSW	12	31470950	missense	probably benign	0.01
R0422:Slc26a3	UTSW	12	31465849	missense	possibly damaging	0.90
R0544:Slc26a3	UTSW	12	31447740	missense	probably benign
R0781:Slc26a3	UTSW	12	31465813	missense	possibly damaging	0.90
R1561:Slc26a3	UTSW	12	31466452	missense	probably benign	0.18
R1860:Slc26a3	UTSW	12	31465846	missense	probably benign
R1954:Slc26a3	UTSW	12	31450816	missense	probably damaging	0.98
R1967:Slc26a3	UTSW	12	31465778	missense	probably damaging	0.99
R2240:Slc26a3	UTSW	12	31457072	missense	probably damaging	1.00
R2508:Slc26a3	UTSW	12	31470903	missense	probably damaging	0.99
R3894:Slc26a3	UTSW	12	31464720	missense	probably damaging	1.00
R3914:Slc26a3	UTSW	12	31453906	missense	probably benign	0.00
R3978:Slc26a3	UTSW	12	31465860	splice site	probably null
R4701:Slc26a3	UTSW	12	31447774	missense	probably damaging	1.00
R4713:Slc26a3	UTSW	12	31457080	missense	possibly damaging	0.75
R5024:Slc26a3	UTSW	12	31453908	missense	probably benign
R5168:Slc26a3	UTSW	12	31468554	missense	possibly damaging	0.81
R5361:Slc26a3	UTSW	12	31450981	critical splice donor site	probably null
R5715:Slc26a3	UTSW	12	31448843	critical splice donor site	probably null
R5951:Slc26a3	UTSW	12	31452715	intron	probably benign
R6662:Slc26a3	UTSW	12	31457346	nonsense	probably null
R6895:Slc26a3	UTSW	12	31463524	missense	probably damaging	0.96
R7069:Slc26a3	UTSW	12	31450935	missense	probably damaging	0.96
R7484:Slc26a3	UTSW	12	31447788	missense	probably benign	0.22
R7744:Slc26a3	UTSW	12	31463465	critical splice acceptor site	probably null
R8192:Slc26a3	UTSW	12	31468542	missense	probably benign	0.05
R8327:Slc26a3	UTSW	12	31466431	missense	possibly damaging	0.81
R8356:Slc26a3	UTSW	12	31466506	missense	probably benign	0.06
R8371:Slc26a3	UTSW	12	31452542	missense	probably damaging	1.00
R8550:Slc26a3	UTSW	12	31461740	missense	probably damaging	1.00
R9057:Slc26a3	UTSW	12	31470959	missense	probably benign	0.00
R9221:Slc26a3	UTSW	12	31463471	missense	possibly damaging	0.95
R9484:Slc26a3	UTSW	12	31461786	missense	probably damaging	0.98
R9746:Slc26a3	UTSW	12	31449146	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACAGACTTCAAATAAGCGGTCTC -3'
(R):5'- AAGGATCATACCTGACATTCCCG -3'

Sequencing Primer
(F):5'- CTTCAAATAAGCGGTCTCATGAGG -3'
(R):5'- ATACCTGACATTCCCGATTACGTAG -3'

Posted On

2016-06-06