Mutagenetix > Incidental Mutation

Incidental Mutation 'R9221:Slc26a3'

699483

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 #

R9221 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

31390871-31473917 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 31463471 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 464 (I464N)

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: I464N

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000001254
Gene: ENSMUSG00000001225
AA Change: I464N

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

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610528A11Rik	A	G	14: 37,107,395	S44P	probably damaging	Het
2810403A07Rik	T	C	3: 88,686,546	S81P	probably benign	Het
Abca4	A	G	3: 122,128,179	D1128G	probably damaging	Het
Acsm3	A	T	7: 119,768,908	R116*	probably null	Het
Ahnak	T	A	19: 9,012,579	D3742E	probably damaging	Het
Arhgef17	A	G	7: 100,879,611	S598P	possibly damaging	Het
Asxl2	T	C	12: 3,502,310	F1351L	probably damaging	Het
Atg7	C	T	6: 114,695,627	T267I	possibly damaging	Het
Bace2	A	G	16: 97,408,492	K202R	probably benign	Het
Bccip	G	T	7: 133,709,520	V55L	probably benign	Het
Bpifa1	T	A	2: 154,146,132	H198Q	possibly damaging	Het
Btbd7	A	G	12: 102,811,171	Y466H	probably damaging	Het
Cdc45	A	C	16: 18,786,771	S480A	probably benign	Het
Cenpe	T	C	3: 135,230,078	Y425H	possibly damaging	Het
Cep76	A	C	18: 67,634,907	M185R	probably damaging	Het
Chd5	G	T	4: 152,371,665	M930I	probably damaging	Het
Clstn2	G	T	9: 97,461,342	T684K	probably benign	Het
Col4a2	A	G	8: 11,441,943	N1270S	possibly damaging	Het
Crxos	A	G	7: 15,902,925	H141R	probably benign	Het
Dcc	A	G	18: 71,420,362	I741T	possibly damaging	Het
Ddx20	A	T	3: 105,680,369	C430*	probably null	Het
Dgki	G	A	6: 37,296,680	T12M	probably benign	Het
Dock6	T	C	9: 21,809,857	N1676S	possibly damaging	Het
Exosc6	G	A	8: 111,056,396	R9H	probably damaging	Het
Fstl5	A	G	3: 76,661,807	Q589R	probably damaging	Het
Gm4846	T	A	1: 166,497,390	Y44F	probably benign	Het
Gm498	G	T	7: 143,881,165		probably null	Het
Gtf3c2	A	C	5: 31,169,057	I370R	probably damaging	Het
Hjurp	CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT	C	1: 88,266,277		probably benign	Het
Hspg2	A	G	4: 137,560,415	M3696V	possibly damaging	Het
Itga1	A	T	13: 115,030,159	C167*	probably null	Het
Kpna2	A	G	11: 106,989,332	S497P	probably damaging	Het
Krt77	T	A	15: 101,865,629	T197S	probably damaging	Het
Krtap6-5	T	C	16: 89,047,767	Y26C	unknown	Het
Lhfpl5	A	T	17: 28,580,159	D214V	possibly damaging	Het
Lrrtm1	A	G	6: 77,244,613	E351G	probably damaging	Het
Mphosph9	A	G	5: 124,265,364	V867A	probably benign	Het
Mtcl1	T	A	17: 66,343,884	M1529L	probably benign	Het
Mthfr	A	T	4: 148,048,169	Q268L	probably damaging	Het
Myo1d	A	T	11: 80,674,918	N360K	probably damaging	Het
Nbea	AC	A	3: 56,090,972		probably null	Het
Olfr1028	T	A	2: 85,951,841	Y259*	probably null	Het
Olfr1208	T	C	2: 88,896,911	S229G	probably benign	Het
Olfr1437	A	T	19: 12,321,972	M285K	probably damaging	Het
Olfr393	A	T	11: 73,847,282	V281E	probably damaging	Het
P2rx5	A	T	11: 73,171,829	T455S	probably damaging	Het
Palld	A	T	8: 61,516,557	F1244L	unknown	Het
Pbld1	A	G	10: 63,072,050	T125A		Het
Pde3b	G	A	7: 114,415,462		probably benign	Het
Pfkm	T	C	15: 98,121,307	S180P	probably damaging	Het
Pla2g4d	T	A	2: 120,269,972	R626S	possibly damaging	Het
Postn	A	G	3: 54,375,094	E492G	possibly damaging	Het
Prph2	A	G	17: 46,919,892	D237G	probably damaging	Het
Psmd4	T	C	3: 95,035,293	H105R	probably damaging	Het
Pygl	T	C	12: 70,195,627	N685S	probably damaging	Het
Rp1	A	G	1: 4,245,043	F502S	unknown	Het
Sik1	T	C	17: 31,847,193	I607V	probably benign	Het
Slc38a9	A	G	13: 112,689,376	N116S	probably damaging	Het
Sorcs2	C	A	5: 36,024,566		probably null	Het
Spink5	T	C	18: 43,986,300	L226P	probably damaging	Het
Tab1	G	A	15: 80,150,553	V180I	probably benign	Het
Tacc2	T	G	7: 130,624,328	S914R	probably damaging	Het
Tacc2	C	T	7: 130,624,479	R965C	probably benign	Het
Tlr9	A	G	9: 106,224,773	D421G	probably damaging	Het
Tmem181a	T	C	17: 6,256,990	L16P	probably damaging	Het
Trim58	A	T	11: 58,651,249	H345L	probably damaging	Het
Ttc13	G	A	8: 124,673,551	R688C	probably benign	Het
Ube2o	C	A	11: 116,542,838	V685L	probably damaging	Het
Uso1	A	G	5: 92,187,314	H511R	probably benign	Het
Vmn2r5	A	T	3: 64,504,300	Y282*	probably null	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
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
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'- GAAGTGACCTTTTGAGACATGTC -3'
(R):5'- GGTCTTGATAGGCACGCATG -3'

Sequencing Primer
(F):5'- ACCTTTTGAGACATGTCTTTGTAG -3'
(R):5'- ATCAAACACACTGCTCTTTTCTTAG -3'

Posted On

2022-02-07