Mutagenetix > Incidental Mutation

Incidental Mutation 'R5951:Slc26a3'

470908

Institutional Source

Beutler Lab

Gene Symbol

Slc26a3

Ensembl Gene

ENSMUSG00000001225

Gene Name

solute carrier family 26, member 3

Synonyms

9130013M11Rik, 9030623B18Rik, Dra

MMRRC Submission

044141-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.770) question?

Stock #

R5951 (G1)

Quality Score

206

Status

Validated

Chromosome

Chromosomal Location

31483141-31523921 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 31502714 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000128722 (fasta)

Gene Model

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

AlphaFold

Q9WVC8

Predicted Effect

probably benign
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 benign
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: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.4%

Validation Efficiency

100% (78/78)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930568D16Rik	T	A	2: 35,244,811 (GRCm39)	E180D	probably damaging	Het
Add3	A	G	19: 53,232,720 (GRCm39)		probably null	Het
Adgrv1	A	T	13: 81,590,620 (GRCm39)	I4396N	probably damaging	Het
Apc	C	T	18: 34,450,199 (GRCm39)	S2331L	possibly damaging	Het
Apoh	G	T	11: 108,286,729 (GRCm39)	C51F	probably damaging	Het
Arid4b	T	C	13: 14,317,648 (GRCm39)	V177A	possibly damaging	Het
Atp13a1	T	A	8: 70,249,935 (GRCm39)	I343N	probably damaging	Het
Bcar1	T	C	8: 112,440,032 (GRCm39)	D654G	probably benign	Het
Brox	T	C	1: 183,064,072 (GRCm39)	K245R	probably damaging	Het
Ccdc146	A	T	5: 21,524,577 (GRCm39)	S258R	possibly damaging	Het
Ccdc169	A	C	3: 55,047,562 (GRCm39)	K18Q	probably damaging	Het
Cenps	C	A	4: 149,214,658 (GRCm39)		probably benign	Het
Crot	C	A	5: 9,019,120 (GRCm39)	E478*	probably null	Het
Dgkq	A	T	5: 108,802,236 (GRCm39)	M443K	probably damaging	Het
Dhx32	A	T	7: 133,339,057 (GRCm39)	L326Q	probably damaging	Het
Dtwd1	A	G	2: 126,000,342 (GRCm39)	I93V	probably benign	Het
Ehmt2	C	T	17: 35,118,357 (GRCm39)	T44I	probably benign	Het
Enc1	T	C	13: 97,381,765 (GRCm39)	S92P	probably benign	Het
Epha5	T	C	5: 84,479,051 (GRCm39)		probably benign	Het
Eya4	T	A	10: 23,031,892 (GRCm39)	S244C	probably damaging	Het
Fmnl3	G	A	15: 99,223,791 (GRCm39)	R302W	probably damaging	Het
Fscn3	A	T	6: 28,436,173 (GRCm39)	I490F	possibly damaging	Het
Galntl6	A	G	8: 58,415,436 (GRCm39)	V239A	probably benign	Het
Glg1	T	C	8: 111,892,323 (GRCm39)	I841V	possibly damaging	Het
Gm15455	T	C	1: 33,876,893 (GRCm39)		noncoding transcript	Het
Gpd1l	C	T	9: 114,743,473 (GRCm39)	M142I	probably benign	Het
Helb	A	G	10: 119,927,653 (GRCm39)	V819A	possibly damaging	Het
Hnrnpul2	T	G	19: 8,802,255 (GRCm39)	F374C	probably damaging	Het
Hoxc10	G	A	15: 102,875,753 (GRCm39)	S154N	possibly damaging	Het
Ice2	A	T	9: 69,319,651 (GRCm39)	T367S	possibly damaging	Het
Iqca1	A	T	1: 90,067,819 (GRCm39)		probably null	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Klhl14	T	A	18: 21,784,677 (GRCm39)	H250L	probably damaging	Het
Kmt2c	A	T	5: 25,535,801 (GRCm39)	D1447E	probably benign	Het
Larp1	G	T	11: 57,940,765 (GRCm39)	M630I	probably benign	Het
Lrp2	A	G	2: 69,326,667 (GRCm39)		probably null	Het
Map4k3	G	T	17: 80,911,427 (GRCm39)	Q673K	probably benign	Het
Mettl16	A	G	11: 74,686,823 (GRCm39)	N201D	possibly damaging	Het
Mrpl15	C	A	1: 4,855,956 (GRCm39)		probably benign	Het
Mthfd1l	T	A	10: 3,998,222 (GRCm39)	V655D	probably damaging	Het
Odf1	T	C	15: 38,226,531 (GRCm39)	Y144H	probably damaging	Het
Or2f1b	G	T	6: 42,739,493 (GRCm39)	C169F	probably damaging	Het
Or5t5	G	T	2: 86,616,571 (GRCm39)	V166L	probably benign	Het
Padi1	T	C	4: 140,542,140 (GRCm39)	Y594C	probably damaging	Het
Palm3	T	A	8: 84,756,049 (GRCm39)	D520E	probably benign	Het
Paox	G	A	7: 139,707,567 (GRCm39)	C130Y	probably damaging	Het
Parpbp	T	A	10: 87,975,769 (GRCm39)	S115C	probably damaging	Het
Pcnx3	A	G	19: 5,721,708 (GRCm39)	V1438A	possibly damaging	Het
Pdlim2	T	A	14: 70,405,229 (GRCm39)	D212V	probably benign	Het
Pi4ka	A	G	16: 17,121,006 (GRCm39)	F53L	probably damaging	Het
Pik3c2a	A	T	7: 115,967,419 (GRCm39)	D839E	probably damaging	Het
Pou2f1	T	C	1: 165,710,625 (GRCm39)		probably benign	Het
Ppl	A	T	16: 4,906,492 (GRCm39)	Y1268N	probably benign	Het
Prelid3a	C	T	18: 67,598,011 (GRCm39)	S6L	probably benign	Het
Ptk2	T	G	15: 73,175,682 (GRCm39)	D285A	possibly damaging	Het
Rasd2	T	G	8: 75,948,811 (GRCm39)	Y246D	probably damaging	Het
Rhbdl2	A	G	4: 123,708,120 (GRCm39)	T110A	probably benign	Het
Rhobtb1	T	A	10: 69,106,085 (GRCm39)	F217I	probably damaging	Het
Serhl	T	C	15: 82,987,237 (GRCm39)		probably benign	Het
Sh3tc2	A	G	18: 62,123,078 (GRCm39)	E613G	probably damaging	Het
Steap4	T	C	5: 8,025,769 (GRCm39)	I110T	probably benign	Het
Syde1	C	A	10: 78,425,150 (GRCm39)	R287L	possibly damaging	Het
Tmem184c	C	T	8: 78,325,291 (GRCm39)		probably null	Het
Trmt44	C	A	5: 35,730,032 (GRCm39)		probably benign	Het
Ttbk2	G	T	2: 120,603,764 (GRCm39)	S256R	probably benign	Het
Ttll6	A	T	11: 96,036,336 (GRCm39)	I322F	probably damaging	Het
Ubap2	A	T	4: 41,205,753 (GRCm39)		probably null	Het
Wsb2	A	T	5: 117,515,600 (GRCm39)	T402S	probably 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
R3978:Slc26a3	UTSW	12	31,515,859 (GRCm39)	splice site	probably null
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
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'- CGAACATCGCAGACCTTGTG -3'
(R):5'- ATTCTGATTTGTACAGGCATCACAG -3'

Sequencing Primer
(F):5'- CGCAGACCTTGTGACATCTGTG -3'
(R):5'- GATTTGTACAGGCATCACAGCTCAAG -3'

Posted On

2017-03-31