Mutagenetix > Incidental Mutation

Incidental Mutation 'R7484:Slc26a3'

628146

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?

Possibly essential (E-score: 0.713) question?

Stock #

R7484 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31390871-31473917 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31447788 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 47 (V47A)

Ref Sequence

ENSEMBL: ENSMUSP00000128722 (fasta)

Gene Model

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

AlphaFold

Q9WVC8

Predicted Effect

silent
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
AA Change: V47A

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

silent
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 benign
Transcript: ENSMUST00000171616
AA Change: V47A

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (65/66)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	G	A	5: 114,218,862	V1285I	probably damaging	Het
Acly	A	T	11: 100,495,963	I591N	probably damaging	Het
Acr	T	A	15: 89,573,224	V225E	probably damaging	Het
Actr8	A	G	14: 29,992,968	D580G	probably damaging	Het
Adamts12	C	A	15: 11,345,648	Q1592K	probably benign	Het
AI481877	A	T	4: 59,062,286	V924E	probably damaging	Het
Aire	T	C	10: 78,042,570	E138G	probably damaging	Het
Apob	C	T	12: 8,006,884	Q1789*	probably null	Het
BC147527	A	T	13: 120,308,481	K112N	probably damaging	Het
Cbx5	A	C	15: 103,205,829		probably null	Het
Cd300lb	A	T	11: 114,928,519	W95R	probably damaging	Het
Cdc16	A	G	8: 13,777,605	T504A	probably benign	Het
Cenpf	A	G	1: 189,656,821	S1605P	probably damaging	Het
Ckap2l	A	G	2: 129,272,535	V596A	possibly damaging	Het
Cntn1	T	C	15: 92,254,041	W454R	probably benign	Het
Crat	C	T	2: 30,404,565	R497Q	probably benign	Het
Csf2rb	A	G	15: 78,338,899	T104A	possibly damaging	Het
Cyhr1	A	G	15: 76,646,235	L295P	probably damaging	Het
Cyp4a12b	A	G	4: 115,432,563	D209G	possibly damaging	Het
Ddx23	T	C	15: 98,648,689	E533G	probably damaging	Het
Dscaml1	A	G	9: 45,749,446		probably null	Het
Eif3l	T	G	15: 79,084,136	C202G	probably benign	Het
Ephx4	T	G	5: 107,429,746	M312R	probably damaging	Het
Erich6	A	T	3: 58,626,691		probably null	Het
Far2	G	A	6: 148,173,913	D424N	probably damaging	Het
Fat1	C	A	8: 45,036,184	N3497K	probably damaging	Het
Fstl3	G	A	10: 79,780,031	C117Y	probably damaging	Het
Fyb2	A	T	4: 105,013,302	H700L	probably benign	Het
Gm438	A	G	4: 144,777,951	L210P	probably damaging	Het
Gm8356	T	A	14: 6,535,135	M128L	probably benign	Het
Golim4	G	T	3: 75,898,135		probably null	Het
Grm1	T	G	10: 10,746,659	D440A	probably benign	Het
Gtf2a1	A	G	12: 91,562,973	V322A	probably benign	Het
Hid1	T	C	11: 115,352,581		probably null	Het
Igfals	G	A	17: 24,879,988	V18M	possibly damaging	Het
Klk1b24	G	T	7: 44,190,264		probably null	Het
Lmbr1	T	C	5: 29,346,852		probably benign	Het
Lrrc40	T	C	3: 158,040,557	S90P	probably benign	Het
Mapk9	T	C	11: 49,872,836	Y185H	probably damaging	Het
Marveld2	C	T	13: 100,611,560	G337D	probably damaging	Het
Mga	G	T	2: 119,946,229	R1539L	probably damaging	Het
Mllt6	T	A	11: 97,672,616	S342T	probably benign	Het
Ms4a6c	T	C	19: 11,472,529		probably null	Het
Muc16	T	A	9: 18,646,768	H2743L	unknown	Het
Myl10	G	C	5: 136,697,971	V70L	probably benign	Het
Olfr1130	T	C	2: 87,607,937	F183S	probably damaging	Het
Olfr166	A	G	16: 19,487,003	H55R	possibly damaging	Het
Plcd3	T	G	11: 103,071,719	K635N	probably damaging	Het
Prkch	T	A	12: 73,585,527		probably null	Het
Rb1cc1	T	C	1: 6,274,217	V1570A	probably damaging	Het
Rp1	T	C	1: 4,345,481	N1803D	probably benign	Het
Rufy3	T	A	5: 88,598,472	V72E	probably benign	Het
Secisbp2l	G	A	2: 125,771,532	Q181*	probably null	Het
Sgcb	A	G	5: 73,639,845	F191L	possibly damaging	Het
Sgsh	T	A	11: 119,346,357	D477V	probably damaging	Het
Slc22a28	C	A	19: 8,071,127	S385I	probably benign	Het
Slco2a1	A	T	9: 103,067,986	I187F	probably damaging	Het
Sltm	T	C	9: 70,573,897	S344P	unknown	Het
Sort1	A	G	3: 108,338,825	T373A	probably damaging	Het
Stab1	A	G	14: 31,160,317	F474L	probably benign	Het
Tbc1d5	G	T	17: 50,917,545	A326E	possibly damaging	Het
Vwa8	A	C	14: 78,982,234		probably null	Het
Wdr70	G	A	15: 7,922,081	T425I	probably benign	Het
Zfp30	T	C	7: 29,792,806	Y243H	probably benign	Het
Zfp974	A	T	7: 27,912,134	N55K	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
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
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'- CACCACTTTCGTCTTTAAGATGATG -3'
(R):5'- CAGCACATACCGGTGTACAC -3'

Sequencing Primer
(F):5'- GATGATGTCATCTTTGCCAACTTTC -3'
(R):5'- TACCGGTGTACACATTCACAC -3'

Posted On

2020-01-24