Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01359:Slc26a11'

75652

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc26a11

Ensembl Gene

ENSMUSG00000039908

Gene Name

solute carrier family 26, member 11

Synonyms

F630021I08Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.151) question?

Stock #

IGL01359

Quality Score

Status

Chromosome

Chromosomal Location

119246383-119271905 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 119254257 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 192 (M192L)

Ref Sequence

ENSEMBL: ENSMUSP00000050999 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050880]

AlphaFold

Q80ZD3

Predicted Effect

probably benign
Transcript: ENSMUST00000050880
AA Change: M192L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000050999
Gene: ENSMUSG00000039908
AA Change: M192L

Domain	Start	End	E-Value	Type
Pfam:Sulfate_transp	31	424	1.8e-97	PFAM
transmembrane domain	426	448	N/A	INTRINSIC
Pfam:STAS	453	559	3.6e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123634

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147366

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151612

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the solute linked carrier 26 family of anion exchangers. Members of this family of proteins are essential for numerous cellular functions including homeostasis and intracellular electrolyte balance. The encoded protein is a sodium independent sulfate transporter that is sensitive to the anion exchanger inhibitor 4,4'-diisothiocyanostilbene-2,2'-disulfonic acid. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf1	G	A	17: 43,621,577 (GRCm39)	E605K	probably damaging	Het
Adgrl4	G	A	3: 151,248,923 (GRCm39)	C737Y	probably damaging	Het
Ankk1	A	T	9: 49,327,328 (GRCm39)	I617N	possibly damaging	Het
B3gat2	T	C	1: 23,802,301 (GRCm39)	F196L	probably damaging	Het
Bcl2l14	T	A	6: 134,400,828 (GRCm39)	I83N	probably damaging	Het
Bcr	T	C	10: 74,995,611 (GRCm39)		probably benign	Het
Ckmt2	A	T	13: 92,009,939 (GRCm39)	I127N	probably damaging	Het
Dhx33	G	A	11: 70,884,687 (GRCm39)	Q40*	probably null	Het
Dnah11	T	C	12: 117,946,734 (GRCm39)	T3117A	probably damaging	Het
Dnai2	A	G	11: 114,642,614 (GRCm39)	Y405C	probably benign	Het
Emc2	A	G	15: 43,375,145 (GRCm39)	Y214C	probably damaging	Het
Fbxw2	T	C	2: 34,712,762 (GRCm39)	T100A	probably benign	Het
Fkrp	C	T	7: 16,545,415 (GRCm39)	R149Q	probably benign	Het
Fsd1l	A	G	4: 53,659,601 (GRCm39)	R153G	possibly damaging	Het
Galnt4	T	C	10: 98,945,459 (GRCm39)	Y395H	probably damaging	Het
Gk5	T	C	9: 96,019,842 (GRCm39)	L126P	probably damaging	Het
Gm973	A	G	1: 59,669,438 (GRCm39)	S830G	probably benign	Het
Gpc5	G	A	14: 115,607,162 (GRCm39)	G255S	possibly damaging	Het
Grk3	C	A	5: 113,085,626 (GRCm39)	S370I	probably damaging	Het
Herc1	A	G	9: 66,346,550 (GRCm39)	D1972G	probably benign	Het
Itih3	T	A	14: 30,639,729 (GRCm39)	D364V	probably damaging	Het
Lce1f	G	T	3: 92,626,491 (GRCm39)	C55*	probably null	Het
Ltn1	A	C	16: 87,202,581 (GRCm39)		probably benign	Het
Lyl1	C	T	8: 85,429,315 (GRCm39)	A8V	possibly damaging	Het
Mdn1	A	G	4: 32,743,686 (GRCm39)	E3974G	probably benign	Het
Msl3l2	T	C	10: 55,992,340 (GRCm39)	V355A	probably damaging	Het
Nadsyn1	T	C	7: 143,374,967 (GRCm39)	I30V	possibly damaging	Het
Nuggc	T	C	14: 65,860,656 (GRCm39)	V418A	probably damaging	Het
Or4f57	A	T	2: 111,791,406 (GRCm39)	M4K	probably benign	Het
Or52e8	T	C	7: 104,625,193 (GRCm39)		probably null	Het
Or52m2	A	T	7: 102,263,379 (GRCm39)	H272Q	probably benign	Het
Ppp4r3a	T	C	12: 101,024,755 (GRCm39)	E248G	probably damaging	Het
Rab3gap2	T	A	1: 184,971,067 (GRCm39)	V234E	probably damaging	Het
Radil	G	A	5: 142,529,468 (GRCm39)	T105I	probably damaging	Het
Saa4	A	G	7: 46,381,060 (GRCm39)	W21R	possibly damaging	Het
Sec62	G	A	3: 30,868,455 (GRCm39)	S228N	unknown	Het
Setd4	C	T	16: 93,388,127 (GRCm39)	G120S	probably damaging	Het
Sgpl1	G	A	10: 60,936,687 (GRCm39)	T556I	probably benign	Het
Slc14a2	T	C	18: 78,197,323 (GRCm39)	D811G	probably benign	Het
Spon1	A	T	7: 113,633,525 (GRCm39)	Q656L	probably damaging	Het
Tex15	A	G	8: 34,071,926 (GRCm39)	D2491G	probably damaging	Het
Tox	T	C	4: 6,697,583 (GRCm39)	T407A	probably damaging	Het
Ubr5	A	T	15: 37,973,250 (GRCm39)	I2611N	probably damaging	Het
Usp25	G	A	16: 76,856,141 (GRCm39)	A245T	probably damaging	Het
Vwa8	C	A	14: 79,302,353 (GRCm39)	Y1007*	probably null	Het
Zfp423	T	C	8: 88,507,290 (GRCm39)	H893R	probably damaging	Het
Zfp507	A	G	7: 35,493,927 (GRCm39)	I372T	probably damaging	Het

Other mutations in Slc26a11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00941:Slc26a11	APN	11	119,270,727 (GRCm39)	missense	probably benign	0.00
IGL01835:Slc26a11	APN	11	119,268,040 (GRCm39)	missense	probably benign
R0193:Slc26a11	UTSW	11	119,250,140 (GRCm39)	missense	probably damaging	1.00
R0362:Slc26a11	UTSW	11	119,270,767 (GRCm39)	splice site	probably benign
R0709:Slc26a11	UTSW	11	119,265,603 (GRCm39)	missense	probably damaging	1.00
R1800:Slc26a11	UTSW	11	119,263,979 (GRCm39)	missense	probably damaging	0.97
R1964:Slc26a11	UTSW	11	119,271,020 (GRCm39)	missense	possibly damaging	0.93
R4762:Slc26a11	UTSW	11	119,247,657 (GRCm39)	unclassified	probably benign
R5153:Slc26a11	UTSW	11	119,268,085 (GRCm39)	missense	possibly damaging	0.67
R5302:Slc26a11	UTSW	11	119,254,276 (GRCm39)	missense	probably damaging	0.99
R5660:Slc26a11	UTSW	11	119,248,804 (GRCm39)	missense	probably damaging	0.98
R5994:Slc26a11	UTSW	11	119,270,738 (GRCm39)	missense	probably benign	0.14
R6025:Slc26a11	UTSW	11	119,265,654 (GRCm39)	missense	probably damaging	1.00
R6275:Slc26a11	UTSW	11	119,250,125 (GRCm39)	missense	probably benign	0.44
R6970:Slc26a11	UTSW	11	119,247,798 (GRCm39)	missense	probably damaging	1.00
R6974:Slc26a11	UTSW	11	119,248,844 (GRCm39)	missense	possibly damaging	0.82
R7466:Slc26a11	UTSW	11	119,265,328 (GRCm39)	missense	probably damaging	0.99
R8210:Slc26a11	UTSW	11	119,270,692 (GRCm39)	missense	possibly damaging	0.84
R8459:Slc26a11	UTSW	11	119,259,643 (GRCm39)	missense	possibly damaging	0.88
R9238:Slc26a11	UTSW	11	119,265,733 (GRCm39)	critical splice donor site	probably null
R9324:Slc26a11	UTSW	11	119,267,730 (GRCm39)	missense	probably benign	0.00
R9393:Slc26a11	UTSW	11	119,259,627 (GRCm39)	missense	probably benign
X0026:Slc26a11	UTSW	11	119,271,056 (GRCm39)	missense	probably benign
X0028:Slc26a11	UTSW	11	119,271,020 (GRCm39)	missense	possibly damaging	0.93
Z1177:Slc26a11	UTSW	11	119,247,785 (GRCm39)	missense	not run

Posted On

2013-10-07