Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02543:Slc26a4'

298272

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc26a4

Ensembl Gene

ENSMUSG00000020651

Gene Name

solute carrier family 26, member 4

Synonyms

Pds, pendrin

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02543

Quality Score

Status

Chromosome

Chromosomal Location

31519827-31559969 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31528689 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 655 (I655T)

Ref Sequence

ENSEMBL: ENSMUSP00000001253 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001253]

AlphaFold

Q9R155

Predicted Effect

possibly damaging
Transcript: ENSMUST00000001253
AA Change: I655T

PolyPhen 2 Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000001253
Gene: ENSMUSG00000020651
AA Change: I655T

Domain	Start	End	E-Value	Type
low complexity region	33	47	N/A	INTRINSIC
Pfam:Sulfate_transp	84	485	1e-105	PFAM
low complexity region	492	507	N/A	INTRINSIC
Pfam:STAS	536	725	1.4e-42	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218992

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mutations in this gene are associated with Pendred syndrome, the most common form of syndromic deafness, an autosomal-recessive disease. It is highly homologous to the SLC26A3 gene; they have similar genomic structures and this gene is located 3' of the SLC26A3 gene. The encoded protein has homology to sulfate transporters. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants are completely deaf with vestibular dysfunction. Mutants show endolymphatic dilatation, degeneration of sensory cells and malformations of otoconia and otoconial membranes. They display unsteady gait and circling and head bobbing. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	G	T	19: 31,918,095	A193S	probably damaging	Het
Adcy4	T	C	14: 55,769,170	T1069A	probably benign	Het
Arg2	A	T	12: 79,150,759	I184F	probably benign	Het
Asb18	G	A	1: 90,014,391	P63S	probably damaging	Het
Cd163l1	A	G	7: 140,220,578	M91V	probably benign	Het
Cep85	T	C	4: 134,156,323	H85R	possibly damaging	Het
Chfr	A	G	5: 110,143,547		probably null	Het
Cog2	A	G	8: 124,529,959	N148S	probably benign	Het
Csgalnact1	T	C	8: 68,461,068	T162A	probably damaging	Het
Ddi1	C	T	9: 6,266,183	G62D	possibly damaging	Het
Dhx33	T	C	11: 70,987,240	Y435C	probably damaging	Het
Dsc3	A	T	18: 19,965,828	C765S	probably benign	Het
Egfem1	T	A	3: 29,668,380	D362E	probably benign	Het
Gm10093	A	G	17: 78,491,874	E98G	probably damaging	Het
Gm28040	A	T	1: 133,319,331	I26F	possibly damaging	Het
Gm28778	T	C	1: 53,299,043	M22T	probably benign	Het
Hipk2	A	G	6: 38,703,501	I968T	possibly damaging	Het
Hlx	T	G	1: 184,730,751	S235R	probably damaging	Het
Jag1	T	C	2: 137,091,947		probably benign	Het
Kdr	A	G	5: 75,964,947		probably benign	Het
Klhl3	T	C	13: 58,018,871	E435G	probably damaging	Het
L3mbtl4	T	C	17: 68,461,612		probably benign	Het
Large1	T	A	8: 73,048,414	M223L	probably benign	Het
Lrp1b	T	C	2: 40,870,401	K2838E	possibly damaging	Het
Ncan	T	C	8: 70,108,571	D582G	probably benign	Het
Nedd9	T	C	13: 41,316,735	D314G	probably damaging	Het
Nip7	T	C	8: 107,058,193		probably benign	Het
Olfr1408	T	G	1: 173,130,334	K294N	probably damaging	Het
Olfr629	A	T	7: 103,740,503	C246S	possibly damaging	Het
Olfr8	C	A	10: 78,955,939	H245N	probably damaging	Het
P3h1	T	C	4: 119,237,856		probably benign	Het
Pcp4l1	C	T	1: 171,175,564		probably benign	Het
Plekhm2	C	T	4: 141,642,019	G118D	probably benign	Het
Prkg1	T	C	19: 30,624,734	D374G	possibly damaging	Het
Ptcd1	A	G	5: 145,154,687	L534P	possibly damaging	Het
Rnf123	A	G	9: 108,066,348	S563P	probably damaging	Het
Sdk2	A	T	11: 113,868,921	I418N	possibly damaging	Het
Syne1	T	C	10: 5,043,618	K524R	probably damaging	Het
Tanc1	G	T	2: 59,833,258	G1120C	probably damaging	Het
Tbc1d22a	C	T	15: 86,239,171	A135V	probably benign	Het
Tenm3	A	C	8: 48,298,956	W942G	probably damaging	Het
Thsd7b	G	A	1: 130,165,103	V1247I	probably benign	Het
Treml1	A	G	17: 48,360,431	T115A	possibly damaging	Het
Ttn	T	C	2: 76,709,962	T34227A	probably benign	Het
Ugt2b38	T	A	5: 87,423,483	D230V	probably benign	Het
Vmn1r203	G	A	13: 22,524,904	G285D	probably damaging	Het
Vmn2r76	A	G	7: 86,230,148	S315P	probably benign	Het
Vmn2r98	T	G	17: 19,065,821	S194A	probably benign	Het
Wdr1	G	A	5: 38,545,822	S137F	probably damaging	Het
Wnt7b	C	T	15: 85,558,896		probably benign	Het
Zfp668	A	T	7: 127,868,322	C27*	probably null	Het

Other mutations in Slc26a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01754:Slc26a4	APN	12	31528854	splice site	probably benign
IGL01763:Slc26a4	APN	12	31528854	splice site	probably benign
IGL01778:Slc26a4	APN	12	31528854	splice site	probably benign
IGL01779:Slc26a4	APN	12	31528854	splice site	probably benign
IGL01872:Slc26a4	APN	12	31539203	missense	probably benign	0.22
IGL02016:Slc26a4	APN	12	31535667	missense	probably damaging	0.99
IGL02184:Slc26a4	APN	12	31549949	missense	probably damaging	1.00
IGL02267:Slc26a4	APN	12	31528854	splice site	probably benign
IGL02270:Slc26a4	APN	12	31528854	splice site	probably benign
IGL02271:Slc26a4	APN	12	31528854	splice site	probably benign
IGL02347:Slc26a4	APN	12	31528854	splice site	probably benign
IGL02803:Slc26a4	APN	12	31522527	critical splice acceptor site	probably null
IGL02885:Slc26a4	APN	12	31525476	missense	probably benign	0.00
IGL02974:Slc26a4	APN	12	31529554	missense	probably damaging	1.00
IGL03037:Slc26a4	APN	12	31531687	splice site	probably benign
cul-de-sac	UTSW	12	31525568	nonsense	probably null
discobolus	UTSW	12	31540533	nonsense	probably null
R0152:Slc26a4	UTSW	12	31529498	missense	probably damaging	1.00
R0677:Slc26a4	UTSW	12	31549911	critical splice donor site	probably null
R0961:Slc26a4	UTSW	12	31535619	missense	probably benign
R1025:Slc26a4	UTSW	12	31528737	missense	probably damaging	1.00
R1301:Slc26a4	UTSW	12	31525568	nonsense	probably null
R1729:Slc26a4	UTSW	12	31544494	missense	possibly damaging	0.95
R2321:Slc26a4	UTSW	12	31540544	missense	probably damaging	1.00
R3967:Slc26a4	UTSW	12	31528687	missense	probably damaging	1.00
R3970:Slc26a4	UTSW	12	31528687	missense	probably damaging	1.00
R4007:Slc26a4	UTSW	12	31540533	nonsense	probably null
R4370:Slc26a4	UTSW	12	31529476	missense	probably benign	0.01
R4647:Slc26a4	UTSW	12	31540526	missense	possibly damaging	0.90
R4648:Slc26a4	UTSW	12	31540526	missense	possibly damaging	0.90
R5816:Slc26a4	UTSW	12	31528685	missense	probably damaging	1.00
R5932:Slc26a4	UTSW	12	31535249	critical splice donor site	probably null
R6675:Slc26a4	UTSW	12	31540513	missense	possibly damaging	0.89
R6732:Slc26a4	UTSW	12	31526600	critical splice donor site	probably null
R6890:Slc26a4	UTSW	12	31549951	missense	possibly damaging	0.79
R7231:Slc26a4	UTSW	12	31547946	missense	probably damaging	1.00
R7286:Slc26a4	UTSW	12	31529528	nonsense	probably null
R7790:Slc26a4	UTSW	12	31544483	missense	probably damaging	1.00
R7812:Slc26a4	UTSW	12	31544450	missense	probably damaging	1.00
R8002:Slc26a4	UTSW	12	31547970	missense	probably benign	0.00
R8362:Slc26a4	UTSW	12	31544507	missense	probably benign	0.00
R8531:Slc26a4	UTSW	12	31549912	critical splice donor site	probably null
R8988:Slc26a4	UTSW	12	31522524	missense	probably benign	0.00
R9216:Slc26a4	UTSW	12	31528660	missense	possibly damaging	0.51
R9335:Slc26a4	UTSW	12	31525554	missense	probably damaging	0.99
R9354:Slc26a4	UTSW	12	31535256	missense	possibly damaging	0.91
R9680:Slc26a4	UTSW	12	31535293	missense	probably damaging	1.00
X0022:Slc26a4	UTSW	12	31535687	missense	probably damaging	1.00

Posted On

2015-04-16