Mutagenetix > Incidental Mutation

Incidental Mutation 'R7069:Slc26a3'

548774

Institutional Source

Beutler Lab

Gene Symbol

Slc26a3

Ensembl Gene

ENSMUSG00000001225

Gene Name

solute carrier family 26, member 3

Synonyms

9030623B18Rik, 9130013M11Rik, Dra

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.805) question?

Stock #

R7069 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31390871-31473917 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 31450935 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 224 (Q224K)

Ref Sequence

ENSEMBL: ENSMUSP00000130676 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001254] [ENSMUST00000110854] [ENSMUST00000167432] [ENSMUST00000171616]

AlphaFold

Q9WVC8

Predicted Effect

probably damaging
Transcript: ENSMUST00000001254
AA Change: Q224K

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000001254
Gene: ENSMUSG00000001225
AA Change: Q224K

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

probably damaging
Transcript: ENSMUST00000167432
AA Change: Q224K

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000130676
Gene: ENSMUSG00000001225
AA Change: Q224K

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 benign
Transcript: ENSMUST00000171616

Meta Mutation Damage Score

0.5157

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

98% (86/88)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	A	T	1: 37,631,901	F97Y	probably damaging	Het
4932415D10Rik	G	A	10: 82,289,943	T2411I	probably damaging	Het
Aasdh	T	A	5: 76,876,356	I991L	probably benign	Het
Actg2	C	A	6: 83,520,763	G96V	probably damaging	Het
Adh5	T	A	3: 138,451,051	L166*	probably null	Het
Akap13	A	G	7: 75,610,262	D75G	probably benign	Het
Ank2	T	C	3: 126,946,298		probably benign	Het
Arfgap1	T	A	2: 180,974,120	D197E	probably benign	Het
Aste1	T	C	9: 105,396,707		probably null	Het
Atp8b2	T	A	3: 89,954,571	N78I	probably damaging	Het
Btbd11	C	A	10: 85,387,656	R110S	unknown	Het
Cacna2d3	T	A	14: 28,969,303		probably benign	Het
Chrd	T	A	16: 20,739,433	W809R	probably damaging	Het
Col2a1	C	T	15: 97,998,588	G60D	unknown	Het
Coro7	T	A	16: 4,679,611	M1L	probably damaging	Het
Dhx40	T	C	11: 86,797,743	I285V	probably benign	Het
Dopey1	T	C	9: 86,550,169		probably null	Het
Enox1	A	T	14: 77,611,324	R358S	probably damaging	Het
Ep400	A	G	5: 110,668,124	V2724A	probably damaging	Het
Fam196b	T	A	11: 34,402,677	C240S	possibly damaging	Het
Fam221a	A	C	6: 49,378,498	Q178P	probably damaging	Het
Fcho1	A	C	8: 71,710,497		probably null	Het
Fndc1	A	T	17: 7,769,735	V1165D	unknown	Het
Gal3st2b	A	T	1: 93,940,619	N189Y	possibly damaging	Het
Ghr	T	A	15: 3,320,484	D404V	probably damaging	Het
Glis3	A	T	19: 28,531,519	V355D	probably damaging	Het
Gm15922	C	G	7: 3,737,320	A301P	probably damaging	Het
Gm21671	A	T	5: 25,949,844	S253T	possibly damaging	Het
Gpr12	A	C	5: 146,583,539	V32G	possibly damaging	Het
Gspt1	T	A	16: 11,222,661	L593F	probably damaging	Het
H2-Q7	A	T	17: 35,440,031	T153S	probably damaging	Het
Hars2	A	G	18: 36,787,956	I194V	probably damaging	Het
Hdac9	T	A	12: 34,429,549	T202S	possibly damaging	Het
Hoxd13	T	C	2: 74,669,024	Y239H	probably damaging	Het
Insm2	C	T	12: 55,599,836	Q122*	probably null	Het
Ip6k1	T	A	9: 108,045,452		probably null	Het
Ippk	T	C	13: 49,461,743	V534A	probably damaging	Het
Itch	T	G	2: 155,209,994	F611C	probably damaging	Het
Itga1	A	T	13: 114,968,240	N1083K	probably damaging	Het
Itgae	A	C	11: 73,116,143	D405A	probably damaging	Het
Kif18a	T	C	2: 109,295,002	S255P	probably damaging	Het
Klhl24	C	G	16: 20,107,481	T253R	probably benign	Het
Krt81	T	A	15: 101,460,728	T307S	possibly damaging	Het
Lbr	A	T	1: 181,828,789	W265R	probably damaging	Het
Lgals3bp	T	C	11: 118,393,173	T527A	probably benign	Het
Lzts1	A	C	8: 69,140,745	V70G	probably damaging	Het
Map3k6	C	T	4: 133,251,712	P1154S	probably benign	Het
Masp1	T	C	16: 23,452,455	D681G	probably benign	Het
Mdga2	T	C	12: 66,486,752	N948D	probably benign	Het
Mettl4	A	T	17: 94,733,633	F364L	probably damaging	Het
Mosmo	T	C	7: 120,677,832	I23T	probably benign	Het
Mtg1	G	A	7: 140,143,744	V96I	probably benign	Het
Myh11	T	A	16: 14,218,939	R966S	possibly damaging	Het
Ncapg2	A	G	12: 116,424,717		probably null	Het
Nid1	G	A	13: 13,508,768	V1144I	probably benign	Het
Olfr1250	T	C	2: 89,656,566	I292V	probably benign	Het
Olfr544	C	A	7: 102,484,772	C116F	possibly damaging	Het
Olfr622	A	T	7: 103,639,960	M60K	probably damaging	Het
Oscar	T	G	7: 3,611,239	Y167S	probably damaging	Het
Pa2g4	T	C	10: 128,560,690	T200A	probably benign	Het
Pcdh7	A	G	5: 57,719,784	D227G	probably benign	Het
Plce1	G	A	19: 38,758,940	G1702R	probably damaging	Het
Plxna2	C	A	1: 194,793,904	T1144K	possibly damaging	Het
Prl8a8	G	A	13: 27,511,467	T99I	probably benign	Het
Prr29	C	A	11: 106,376,259	H83Q	probably damaging	Het
Raly	T	A	2: 154,859,744	I108N	possibly damaging	Het
Ranbp9	A	T	13: 43,419,622	S475R	probably benign	Het
Rogdi	C	A	16: 5,013,498		probably benign	Het
Rorc	C	T	3: 94,372,907	Q6*	probably null	Het
Sacs	T	C	14: 61,212,496	L3997S	probably damaging	Het
Scn2a	A	T	2: 65,764,606	Y1933F	probably benign	Het
Sik3	T	C	9: 46,210,743	L898P	probably damaging	Het
Sipa1l1	A	G	12: 82,341,406	I135M	probably damaging	Het
Sobp	G	T	10: 43,021,440	N716K	probably benign	Het
Spata16	A	G	3: 26,927,334	D513G	probably damaging	Het
Stac	T	C	9: 111,572,326	R351G	possibly damaging	Het
Tecta	T	A	9: 42,394,941	T64S	probably benign	Het
Tert	G	A	13: 73,628,410	V427M	probably damaging	Het
Tex15	G	A	8: 33,570,720	M333I	probably benign	Het
Tmbim4	A	T	10: 120,220,759	Q72L	probably benign	Het
Trav9n-4	T	C	14: 53,294,799	S37P	probably benign	Het
Trpv5	A	T	6: 41,675,960	M93K	possibly damaging	Het
Ulk4	T	C	9: 121,258,810	E272G	probably benign	Het
Ulk4	T	C	9: 121,266,517	T79A	probably benign	Het
Upb1	A	G	10: 75,412,768	N41D	probably benign	Het
Wls	A	T	3: 159,934,329	Y532F	probably damaging	Het
Zdhhc5	G	A	2: 84,715,011		probably benign	Het
Zfp109	T	C	7: 24,229,360	D216G	probably benign	Het
Zfp473	G	A	7: 44,732,374	A845V	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
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
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'- TGAAGTACAGCGGCAGGTTTG -3'
(R):5'- TGTACTGGAGTGCAGACATGG -3'

Sequencing Primer
(F):5'- GCACCTTTGGCTTGCTTG -3'
(R):5'- TGTGTGTGATAGCGACACAG -3'

Posted On

2019-05-13