Mutagenetix > Incidental Mutation

Incidental Mutation 'R5715:Slc26a3'

451134

Institutional Source

Beutler Lab

Gene Symbol

Slc26a3

Ensembl Gene

ENSMUSG00000001225

Gene Name

solute carrier family 26, member 3

Synonyms

9030623B18Rik, 9130013M11Rik, Dra

MMRRC Submission

043336-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.805) question?

Stock #

R5715 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

31390871-31473917 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 31448843 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000130676 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001254] [ENSMUST00000110854] [ENSMUST00000167432] [ENSMUST00000167432] [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: ENSMUST00000110854

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165816

Predicted Effect

probably null
Transcript: ENSMUST00000167432

SMART Domains

Protein: ENSMUSP00000130676
Gene: ENSMUSG00000001225

Domain	Start	End	E-Value	Type
Pfam:Sulfate_tra_GLY	58	141	5.3e-31	PFAM
Pfam:Sulfate_transp	186	235	8.9e-13	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000167432

SMART Domains

Protein: ENSMUSP00000130676
Gene: ENSMUSG00000001225

Domain	Start	End	E-Value	Type
Pfam:Sulfate_tra_GLY	58	141	5.3e-31	PFAM
Pfam:Sulfate_transp	186	235	8.9e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168209

Predicted Effect

probably benign
Transcript: ENSMUST00000171616

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931423N10Rik	T	C	2: 23,207,977	Y56H	possibly damaging	Het
9930111J21Rik2	T	A	11: 49,019,950	Y552F	probably damaging	Het
Asprv1	T	A	6: 86,628,614	D147E	probably benign	Het
Atg4c	G	T	4: 99,258,402	L405F	probably damaging	Het
Birc6	C	T	17: 74,631,620	L2670F	probably damaging	Het
Cdc20	T	C	4: 118,434,818	D379G	probably damaging	Het
Chd6	T	C	2: 160,949,878	M2520V	probably benign	Het
Clca4b	A	G	3: 144,913,257	V707A	probably benign	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 104,309,470		probably benign	Het
Col12a1	A	T	9: 79,616,065	C2743*	probably null	Het
Coq6	C	A	12: 84,366,907	D70E	probably benign	Het
Cspg4	T	A	9: 56,891,051	V1450D	possibly damaging	Het
Dnah7a	A	G	1: 53,413,778	L3847P	probably damaging	Het
Drd2	T	A	9: 49,404,889	H316Q	probably benign	Het
Dusp19	T	A	2: 80,630,986	N206K	probably benign	Het
Fam13c	T	G	10: 70,534,840	F270C	probably damaging	Het
Fam20a	T	C	11: 109,678,431	E246G	probably damaging	Het
Fbxo31	A	G	8: 121,578,563	F65L	probably damaging	Het
Fshr	T	A	17: 88,986,396		probably null	Het
Fstl4	T	C	11: 53,000,416	V127A	possibly damaging	Het
Gdpd4	A	T	7: 97,961,597	I75F	probably benign	Het
Gm13128	A	G	4: 144,331,300	D159G	possibly damaging	Het
Grm5	C	A	7: 88,130,256	A968E	probably benign	Het
Gucy2g	A	C	19: 55,233,155	F305V	possibly damaging	Het
Hivep3	T	C	4: 120,096,373	F629L	probably benign	Het
Hoxb1	A	G	11: 96,366,326	E167G	probably benign	Het
Hoxd4	T	C	2: 74,727,364	L29P	probably damaging	Het
Ikbkb	A	G	8: 22,678,850	L211P	probably damaging	Het
Insc	T	C	7: 114,849,841	V499A	probably benign	Het
Irak3	A	T	10: 120,142,736	H511Q	possibly damaging	Het
Itpripl1	T	C	2: 127,142,007	E65G	probably damaging	Het
Lurap1l	T	A	4: 80,953,721	S150R	possibly damaging	Het
Mab21l3	C	T	3: 101,823,407	R172Q	probably benign	Het
Macf1	T	C	4: 123,684,014	D59G	probably damaging	Het
Mettl21a	A	T	1: 64,615,155	S68T	probably benign	Het
Mlxip	T	A	5: 123,440,058	W146R	probably damaging	Het
Mpp2	T	A	11: 102,062,261	N285I	probably damaging	Het
Mrgprb4	T	C	7: 48,199,039	N47S	probably damaging	Het
Msi2	A	G	11: 88,386,063	Y237H	probably damaging	Het
Muc4	C	T	16: 32,751,916	T598I	possibly damaging	Het
Musk	A	T	4: 58,333,663	I253F	probably damaging	Het
Myo5b	G	T	18: 74,742,175	C1550F	possibly damaging	Het
Nckap5l	T	C	15: 99,423,576	T1137A	probably benign	Het
Neb	T	C	2: 52,251,768	D3009G	probably damaging	Het
Nxph1	T	A	6: 9,247,740	V237E	probably damaging	Het
Olfr622	A	C	7: 103,639,802	S113A	probably damaging	Het
Pla2g12a	A	G	3: 129,894,942	K150E	probably damaging	Het
Ptpn23	G	A	9: 110,387,075	R1238W	probably damaging	Het
Pts	C	T	9: 50,522,278	G124R	probably damaging	Het
Rfk	A	T	19: 17,398,638	I99F	probably benign	Het
Rictor	A	T	15: 6,750,716	R151*	probably null	Het
Scn2a	T	A	2: 65,717,584	I1040N	probably benign	Het
Serinc5	A	C	13: 92,706,202	T387P	probably damaging	Het
Sh3bp5l	A	G	11: 58,346,015	Q266R	possibly damaging	Het
Slc14a2	T	C	18: 78,158,336	Y656C	probably damaging	Het
Slc3a2	G	T	19: 8,708,230	H168Q	probably benign	Het
Smarca2	A	T	19: 26,649,122	I449L	probably benign	Het
Smarcc1	T	C	9: 110,196,367	V704A	possibly damaging	Het
Sox13	A	G	1: 133,386,183		probably null	Het
Sptbn5	T	C	2: 120,072,504	E7G	probably damaging	Het
Stard10	A	G	7: 101,321,903	D26G	probably damaging	Het
Tap1	A	T	17: 34,192,894	R91*	probably null	Het
Tgfbrap1	A	T	1: 43,059,937	V239D	possibly damaging	Het
Tmem209	A	T	6: 30,497,923	Y124*	probably null	Het
Tmprss2	T	A	16: 97,568,983	E327V	possibly damaging	Het
Ttbk1	T	C	17: 46,479,207	Y104C	probably damaging	Het
Ttll10	A	T	4: 156,045,391	F154I	probably damaging	Het
Ubn2	T	A	6: 38,461,477	Y40*	probably null	Het
Ubr5	A	T	15: 38,002,233	S1519T	probably benign	Het
Ugt3a1	A	C	15: 9,306,344	D193A	probably damaging	Het
Upf1	A	T	8: 70,352,978	Y6N	probably damaging	Het
Vmn2r103	A	T	17: 19,794,939	D447V	probably benign	Het
Vps39	T	C	2: 120,325,236	N519S	possibly damaging	Het
Zfp109	T	C	7: 24,229,570	E138G	possibly damaging	Het
Znrf3	A	C	11: 5,286,239	V157G	possibly 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
R5058:Slc26a3	UTSW	12	31470965	missense	possibly damaging	0.66
R5168:Slc26a3	UTSW	12	31468554	missense	possibly damaging	0.81
R5361:Slc26a3	UTSW	12	31450981	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'- GTCTTGAACACATTTTGAGTTGCC -3'
(R):5'- GCGCTCCATTCAGTTCAATC -3'

Sequencing Primer
(F):5'- GCCGTGGTAACCTATTTCAAAGAC -3'
(R):5'- TCAGTTCAATCACAAAACTGCATAG -3'

Posted On

2017-01-03