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

9130013M11Rik, 9030623B18Rik, Dra

MMRRC Submission

045558-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.770) question?

Stock #

R7484 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31483141-31523921 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31497787 bp (GRCm39)

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
Aadacl4fm5	A	G	4: 144,504,521 (GRCm39)	L210P	probably damaging	Het
Acacb	G	A	5: 114,356,923 (GRCm39)	V1285I	probably damaging	Het
Acly	A	T	11: 100,386,789 (GRCm39)	I591N	probably damaging	Het
Acr	T	A	15: 89,457,427 (GRCm39)	V225E	probably damaging	Het
Actr8	A	G	14: 29,714,925 (GRCm39)	D580G	probably damaging	Het
Adamts12	C	A	15: 11,345,734 (GRCm39)	Q1592K	probably benign	Het
Aire	T	C	10: 77,878,404 (GRCm39)	E138G	probably damaging	Het
Apob	C	T	12: 8,056,884 (GRCm39)	Q1789*	probably null	Het
Cbx5	A	C	15: 103,114,256 (GRCm39)		probably null	Het
Cd300lb	A	T	11: 114,819,345 (GRCm39)	W95R	probably damaging	Het
Cdc16	A	G	8: 13,827,605 (GRCm39)	T504A	probably benign	Het
Cenpf	A	G	1: 189,389,018 (GRCm39)	S1605P	probably damaging	Het
Ckap2l	A	G	2: 129,114,455 (GRCm39)	V596A	possibly damaging	Het
Cntn1	T	C	15: 92,151,922 (GRCm39)	W454R	probably benign	Het
Crat	C	T	2: 30,294,577 (GRCm39)	R497Q	probably benign	Het
Csf2rb	A	G	15: 78,223,099 (GRCm39)	T104A	possibly damaging	Het
Cyp4a12b	A	G	4: 115,289,760 (GRCm39)	D209G	possibly damaging	Het
Ddx23	T	C	15: 98,546,570 (GRCm39)	E533G	probably damaging	Het
Dscaml1	A	G	9: 45,660,744 (GRCm39)		probably null	Het
Eif3l	T	G	15: 78,968,336 (GRCm39)	C202G	probably benign	Het
Ephx4	T	G	5: 107,577,612 (GRCm39)	M312R	probably damaging	Het
Erich6	A	T	3: 58,534,112 (GRCm39)		probably null	Het
Far2	G	A	6: 148,075,411 (GRCm39)	D424N	probably damaging	Het
Fat1	C	A	8: 45,489,221 (GRCm39)	N3497K	probably damaging	Het
Fstl3	G	A	10: 79,615,865 (GRCm39)	C117Y	probably damaging	Het
Fyb2	A	T	4: 104,870,499 (GRCm39)	H700L	probably benign	Het
Gm8356	T	A	14: 17,691,282 (GRCm39)	M128L	probably benign	Het
Golim4	G	T	3: 75,805,442 (GRCm39)		probably null	Het
Grm1	T	G	10: 10,622,403 (GRCm39)	D440A	probably benign	Het
Gtf2a1	A	G	12: 91,529,747 (GRCm39)	V322A	probably benign	Het
Hid1	T	C	11: 115,243,407 (GRCm39)		probably null	Het
Igfals	G	A	17: 25,098,962 (GRCm39)	V18M	possibly damaging	Het
Klk1b24	G	T	7: 43,839,688 (GRCm39)		probably null	Het
Lmbr1	T	C	5: 29,551,850 (GRCm39)		probably benign	Het
Lrrc40	T	C	3: 157,746,194 (GRCm39)	S90P	probably benign	Het
Mapk9	T	C	11: 49,763,663 (GRCm39)	Y185H	probably damaging	Het
Marveld2	C	T	13: 100,748,068 (GRCm39)	G337D	probably damaging	Het
Mga	G	T	2: 119,776,710 (GRCm39)	R1539L	probably damaging	Het
Mllt6	T	A	11: 97,563,442 (GRCm39)	S342T	probably benign	Het
Ms4a6c	T	C	19: 11,449,893 (GRCm39)		probably null	Het
Muc16	T	A	9: 18,558,064 (GRCm39)	H2743L	unknown	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Or10ag60	T	C	2: 87,438,281 (GRCm39)	F183S	probably damaging	Het
Or2l13	A	G	16: 19,305,753 (GRCm39)	H55R	possibly damaging	Het
Plcd3	T	G	11: 102,962,545 (GRCm39)	K635N	probably damaging	Het
Prkch	T	A	12: 73,632,301 (GRCm39)		probably null	Het
Rb1cc1	T	C	1: 6,344,441 (GRCm39)	V1570A	probably damaging	Het
Rp1	T	C	1: 4,415,704 (GRCm39)	N1803D	probably benign	Het
Rufy3	T	A	5: 88,746,331 (GRCm39)	V72E	probably benign	Het
Secisbp2l	G	A	2: 125,613,452 (GRCm39)	Q181*	probably null	Het
Sgcb	A	G	5: 73,797,188 (GRCm39)	F191L	possibly damaging	Het
Sgsh	T	A	11: 119,237,183 (GRCm39)	D477V	probably damaging	Het
Shoc1	A	T	4: 59,062,286 (GRCm39)	V924E	probably damaging	Het
Slc22a28	C	A	19: 8,048,492 (GRCm39)	S385I	probably benign	Het
Slco2a1	A	T	9: 102,945,185 (GRCm39)	I187F	probably damaging	Het
Sltm	T	C	9: 70,481,179 (GRCm39)	S344P	unknown	Het
Sort1	A	G	3: 108,246,141 (GRCm39)	T373A	probably damaging	Het
Stab1	A	G	14: 30,882,274 (GRCm39)	F474L	probably benign	Het
Tbc1d5	G	T	17: 51,224,573 (GRCm39)	A326E	possibly damaging	Het
Tcstv4	A	T	13: 120,770,017 (GRCm39)	K112N	probably damaging	Het
Vwa8	A	C	14: 79,219,674 (GRCm39)		probably null	Het
Wdr70	G	A	15: 7,951,562 (GRCm39)	T425I	probably benign	Het
Zfp30	T	C	7: 29,492,231 (GRCm39)	Y243H	probably benign	Het
Zfp974	A	T	7: 27,611,559 (GRCm39)	N55K	possibly damaging	Het
Zftraf1	A	G	15: 76,530,435 (GRCm39)	L295P	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
R5951:Slc26a3	UTSW	12	31,502,714 (GRCm39)	intron	probably benign
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
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'- CACCACTTTCGTCTTTAAGATGATG -3'
(R):5'- CAGCACATACCGGTGTACAC -3'

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

Posted On

2020-01-24