Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01779:Slc26a4'

278886

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01779

Quality Score

Status

Chromosome

Chromosomal Location

31519827-31559969 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 31528854 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000001253 (fasta)

Gene Model

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

AlphaFold

Q9R155

Predicted Effect

probably benign
Transcript: ENSMUST00000001253

SMART Domains

Protein: ENSMUSP00000001253
Gene: ENSMUSG00000020651

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl3	A	T	5: 81,387,870	I119F	probably damaging	Het
Akt1	C	T	12: 112,657,169	G286R	probably damaging	Het
Apof	A	G	10: 128,269,477	I167V	probably benign	Het
Arhgap15	A	G	2: 44,065,045	E220G	possibly damaging	Het
Clca3a2	T	A	3: 144,819,378	Y31F	possibly damaging	Het
Clmn	T	C	12: 104,782,140	I383V	probably benign	Het
Cntnap5b	A	G	1: 99,967,339	D112G	probably damaging	Het
Col8a1	A	T	16: 57,628,363	H261Q	unknown	Het
Csmd3	A	T	15: 47,857,894	V1551D	probably benign	Het
Ddx60	G	A	8: 62,017,823	V1450M	possibly damaging	Het
Ethe1	A	T	7: 24,595,009	H79L	probably damaging	Het
Fhdc1	G	A	3: 84,444,735	A1061V	possibly damaging	Het
Gm11110	C	T	17: 57,102,087		probably benign	Het
Hs1bp3	C	T	12: 8,341,945	T349I	probably benign	Het
Ifna16	A	T	4: 88,676,645	I71N	probably damaging	Het
Il18bp	A	G	7: 102,016,795	Y59H	possibly damaging	Het
Kcnt1	T	A	2: 25,900,967	I511N	probably damaging	Het
Mlph	A	G	1: 90,942,950	M528V	probably benign	Het
Olfr646	A	G	7: 104,106,633	D118G	probably damaging	Het
Pprc1	T	A	19: 46,062,202	I52N	probably damaging	Het
Rfx1	T	A	8: 84,092,662		probably benign	Het
Rnf17	A	T	14: 56,462,063	I553F	probably benign	Het
Scaper	A	T	9: 55,892,240	H180Q	probably benign	Het
Slc30a10	A	T	1: 185,464,179	Q346L	possibly damaging	Het
Stambpl1	A	T	19: 34,240,027	H422L	possibly damaging	Het
Trim67	G	A	8: 124,828,121	G701R	probably damaging	Het
Vipr1	T	C	9: 121,664,630	F249S	probably damaging	Het
Vmn2r117	G	T	17: 23,477,241	D397E	probably benign	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
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
IGL02543:Slc26a4	APN	12	31528689	missense	possibly damaging	0.75
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