Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01717:Slc26a3'

104971

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc26a3

Ensembl Gene

ENSMUSG00000001225

Gene Name

solute carrier family 26, member 3

Synonyms

9030623B18Rik, 9130013M11Rik, Dra

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.619) question?

Stock #

IGL01717

Quality Score

Status

Chromosome

Chromosomal Location

31390871-31473917 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31463477 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 466 (I466T)

Ref Sequence

ENSEMBL: ENSMUSP00000001254 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000001254
AA Change: I466T

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000001254
Gene: ENSMUSG00000001225
AA Change: I466T

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

Coding Region Coverage

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	A	G	3: 37,034,736	S4112G	probably benign	Het
Aif1	A	T	17: 35,171,555	M73K	probably damaging	Het
Alk	T	C	17: 72,603,382	I110V	probably benign	Het
Aoah	T	C	13: 20,999,977	S404P	probably damaging	Het
Bhlhe41	A	G	6: 145,863,037	S350P	possibly damaging	Het
Capn12	A	G	7: 28,889,105	D540G	probably benign	Het
Chd6	A	G	2: 160,965,259	Y2012H	possibly damaging	Het
Col1a1	A	G	11: 94,950,777	T1284A	unknown	Het
Col24a1	T	C	3: 145,524,263		probably benign	Het
Col4a5	T	A	X: 141,639,238	V1070D	unknown	Het
Col6a5	T	C	9: 105,940,273	T280A	unknown	Het
Dicer1	A	T	12: 104,702,787	L1212*	probably null	Het
Gigyf1	T	A	5: 137,525,691	V1041E	probably damaging	Het
Gm4978	C	T	9: 69,450,873		probably benign	Het
Gnai1	A	G	5: 18,291,461		probably null	Het
Golgb1	C	T	16: 36,915,502	R1704*	probably null	Het
Incenp	A	G	19: 9,893,265		probably benign	Het
Lrrc39	A	T	3: 116,579,497		probably benign	Het
Man2a2	T	C	7: 80,367,365	K319E	probably damaging	Het
Neb	T	C	2: 52,189,867	D83G	probably damaging	Het
Osbpl6	T	C	2: 76,588,594	I732T	probably damaging	Het
Pacs1	T	A	19: 5,167,972	K130N	probably damaging	Het
Pappa2	A	G	1: 158,857,132		probably null	Het
Pole2	T	C	12: 69,213,849	M186V	probably damaging	Het
Rwdd4a	T	C	8: 47,544,105		probably benign	Het
Sel1l3	A	G	5: 53,200,168	Y161H	probably damaging	Het
Sf3a2	C	T	10: 80,804,692	Q446*	probably null	Het
Slc29a4	A	T	5: 142,718,746	I348F	probably damaging	Het
Tbl1xr1	A	G	3: 22,193,171		probably benign	Het
Tlr5	A	T	1: 182,975,398	I756F	probably damaging	Het
Ttn	T	A	2: 76,730,402	L29218F	probably damaging	Het
Ttn	A	T	2: 76,730,404	L29218I	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
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
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

Posted On

2014-01-21