Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03037:Slc26a4'

408764

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc26a4

Ensembl Gene

ENSMUSG00000020651

Gene Name

solute carrier family 26, member 4

Synonyms

pendrin, Pds

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03037

Quality Score

Status

Chromosome

Chromosomal Location

31569826-31609968 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 31581686 bp (GRCm39)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl11	T	C	9: 107,807,294 (GRCm39)	L539P	probably damaging	Het
Adam23	A	T	1: 63,610,176 (GRCm39)	Q726L	possibly damaging	Het
Ago1	T	C	4: 126,355,587 (GRCm39)	E74G	probably benign	Het
Atp6v1d	C	A	12: 78,904,122 (GRCm39)		probably benign	Het
Bltp1	C	A	3: 37,023,356 (GRCm39)	S2227R	probably benign	Het
Bltp1	T	C	3: 37,023,357 (GRCm39)	S2229P	probably damaging	Het
Cadm4	T	A	7: 24,200,220 (GRCm39)	L243Q	probably damaging	Het
Camsap2	C	A	1: 136,202,595 (GRCm39)	L1274F	probably damaging	Het
Car10	A	G	11: 92,991,044 (GRCm39)		probably benign	Het
Catsperd	A	T	17: 56,948,583 (GRCm39)	D186V	possibly damaging	Het
Cdc42bpg	A	G	19: 6,361,230 (GRCm39)	Y285C	probably damaging	Het
Cenpi	T	A	X: 133,250,017 (GRCm39)	C599S	possibly damaging	Het
Cln8	A	T	8: 14,944,679 (GRCm39)		probably benign	Het
Cnksr1	T	C	4: 133,962,417 (GRCm39)		probably null	Het
Cripto	C	A	9: 110,772,288 (GRCm39)	W36L	probably benign	Het
Ddx5	T	C	11: 106,672,930 (GRCm39)	N532D	possibly damaging	Het
Dock11	G	T	X: 35,310,699 (GRCm39)		probably benign	Het
Dock8	A	G	19: 25,063,545 (GRCm39)	E249G	probably benign	Het
Espnl	T	C	1: 91,269,643 (GRCm39)	V393A	probably benign	Het
Fhip1b	A	T	7: 105,028,293 (GRCm39)	H885Q	probably benign	Het
Frrs1	T	C	3: 116,696,116 (GRCm39)		probably benign	Het
Fstl4	C	A	11: 53,059,050 (GRCm39)	A503D	possibly damaging	Het
Gda	T	A	19: 21,411,673 (GRCm39)	I42L	possibly damaging	Het
Gprc5d	C	A	6: 135,093,319 (GRCm39)	C196F	probably damaging	Het
Hnrnpa0	A	G	13: 58,275,767 (GRCm39)	F121L	probably damaging	Het
Hsd3b7	C	T	7: 127,400,322 (GRCm39)	H24Y	probably damaging	Het
Ift140	T	C	17: 25,311,368 (GRCm39)	S1188P	probably benign	Het
Lyl1	C	T	8: 85,429,300 (GRCm39)	P3L	possibly damaging	Het
Mcemp1	C	A	8: 3,717,055 (GRCm39)	Y65*	probably null	Het
Mmp16	C	T	4: 17,996,222 (GRCm39)	P104S	probably damaging	Het
Mpst	C	A	15: 78,294,798 (GRCm39)	R177S	probably benign	Het
Nek1	A	T	8: 61,487,086 (GRCm39)	T279S	probably benign	Het
Or1q1	C	T	2: 36,887,560 (GRCm39)	T246I	probably benign	Het
Or1x2	A	T	11: 50,918,117 (GRCm39)	Y96F	probably damaging	Het
Or4c11b	A	G	2: 88,625,299 (GRCm39)	Y191C	probably damaging	Het
Or7g18	T	A	9: 18,786,668 (GRCm39)	I12N	probably damaging	Het
Pard3	A	T	8: 128,032,975 (GRCm39)	T190S	probably benign	Het
Pik3r4	A	G	9: 105,528,012 (GRCm39)	D455G	probably damaging	Het
Piwil4	T	C	9: 14,616,308 (GRCm39)	I756V	possibly damaging	Het
Pkhd1	A	G	1: 20,592,923 (GRCm39)	L1730P	probably benign	Het
Pnpla3	T	C	15: 84,056,960 (GRCm39)	I155T	probably damaging	Het
Prmt8	T	C	6: 127,680,940 (GRCm39)	Y243C	possibly damaging	Het
Rbfox1	T	A	16: 7,110,147 (GRCm39)		probably benign	Het
Rps6ka2	G	A	17: 7,521,849 (GRCm39)		probably null	Het
Scaf8	A	G	17: 3,240,496 (GRCm39)	K623E	probably damaging	Het
Slfn8	T	A	11: 82,894,078 (GRCm39)	I854F	probably damaging	Het
Smarca4	T	C	9: 21,544,231 (GRCm39)		probably benign	Het
Sos1	T	C	17: 80,727,758 (GRCm39)	D775G	probably damaging	Het
Spag17	G	A	3: 99,979,486 (GRCm39)		probably null	Het
Spata31d1d	T	A	13: 59,873,947 (GRCm39)	E1196V	possibly damaging	Het
Sqle	T	A	15: 59,193,246 (GRCm39)	Y208N	probably damaging	Het
Tcl1b5	C	T	12: 105,145,273 (GRCm39)	T79M	probably benign	Het
Tenm3	A	G	8: 48,751,913 (GRCm39)	F959L	possibly damaging	Het
Tnfrsf19	T	A	14: 61,261,721 (GRCm39)	K26I	possibly damaging	Het
Trappc10	A	T	10: 78,034,869 (GRCm39)		probably benign	Het
Trim80	T	C	11: 115,332,419 (GRCm39)	W204R	possibly damaging	Het
Trpm3	A	G	19: 22,866,776 (GRCm39)	T536A	possibly damaging	Het
Ttbk1	G	A	17: 46,757,256 (GRCm39)	T1126I	probably benign	Het
Uaca	A	G	9: 60,748,147 (GRCm39)	D37G	probably damaging	Het
Ube3a	T	C	7: 58,896,971 (GRCm39)		probably benign	Het
Ubqln2	C	T	X: 152,282,692 (GRCm39)	Q415*	probably null	Het
Ugp2	T	A	11: 21,282,540 (GRCm39)	K151*	probably null	Het
Wasf1	A	G	10: 40,806,654 (GRCm39)	K99R	probably benign	Het
Wnt4	C	T	4: 137,016,472 (GRCm39)	T42M	possibly damaging	Het
Zfp54	T	A	17: 21,650,477 (GRCm39)	D17E	probably damaging	Het

Other mutations in Slc26a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01754:Slc26a4	APN	12	31,578,853 (GRCm39)	splice site	probably benign
IGL01763:Slc26a4	APN	12	31,578,853 (GRCm39)	splice site	probably benign
IGL01778:Slc26a4	APN	12	31,578,853 (GRCm39)	splice site	probably benign
IGL01779:Slc26a4	APN	12	31,578,853 (GRCm39)	splice site	probably benign
IGL01872:Slc26a4	APN	12	31,589,202 (GRCm39)	missense	probably benign	0.22
IGL02016:Slc26a4	APN	12	31,585,666 (GRCm39)	missense	probably damaging	0.99
IGL02184:Slc26a4	APN	12	31,599,948 (GRCm39)	missense	probably damaging	1.00
IGL02267:Slc26a4	APN	12	31,578,853 (GRCm39)	splice site	probably benign
IGL02270:Slc26a4	APN	12	31,578,853 (GRCm39)	splice site	probably benign
IGL02271:Slc26a4	APN	12	31,578,853 (GRCm39)	splice site	probably benign
IGL02347:Slc26a4	APN	12	31,578,853 (GRCm39)	splice site	probably benign
IGL02543:Slc26a4	APN	12	31,578,688 (GRCm39)	missense	possibly damaging	0.75
IGL02803:Slc26a4	APN	12	31,572,526 (GRCm39)	critical splice acceptor site	probably null
IGL02885:Slc26a4	APN	12	31,575,475 (GRCm39)	missense	probably benign	0.00
IGL02974:Slc26a4	APN	12	31,579,553 (GRCm39)	missense	probably damaging	1.00
cul-de-sac	UTSW	12	31,575,567 (GRCm39)	nonsense	probably null
discobolus	UTSW	12	31,590,532 (GRCm39)	nonsense	probably null
R0152:Slc26a4	UTSW	12	31,579,497 (GRCm39)	missense	probably damaging	1.00
R0677:Slc26a4	UTSW	12	31,599,910 (GRCm39)	critical splice donor site	probably null
R0961:Slc26a4	UTSW	12	31,585,618 (GRCm39)	missense	probably benign
R1025:Slc26a4	UTSW	12	31,578,736 (GRCm39)	missense	probably damaging	1.00
R1301:Slc26a4	UTSW	12	31,575,567 (GRCm39)	nonsense	probably null
R1729:Slc26a4	UTSW	12	31,594,493 (GRCm39)	missense	possibly damaging	0.95
R2321:Slc26a4	UTSW	12	31,590,543 (GRCm39)	missense	probably damaging	1.00
R3967:Slc26a4	UTSW	12	31,578,686 (GRCm39)	missense	probably damaging	1.00
R3970:Slc26a4	UTSW	12	31,578,686 (GRCm39)	missense	probably damaging	1.00
R4007:Slc26a4	UTSW	12	31,590,532 (GRCm39)	nonsense	probably null
R4370:Slc26a4	UTSW	12	31,579,475 (GRCm39)	missense	probably benign	0.01
R4647:Slc26a4	UTSW	12	31,590,525 (GRCm39)	missense	possibly damaging	0.90
R4648:Slc26a4	UTSW	12	31,590,525 (GRCm39)	missense	possibly damaging	0.90
R5816:Slc26a4	UTSW	12	31,578,684 (GRCm39)	missense	probably damaging	1.00
R5932:Slc26a4	UTSW	12	31,585,248 (GRCm39)	critical splice donor site	probably null
R6675:Slc26a4	UTSW	12	31,590,512 (GRCm39)	missense	possibly damaging	0.89
R6732:Slc26a4	UTSW	12	31,576,599 (GRCm39)	critical splice donor site	probably null
R6890:Slc26a4	UTSW	12	31,599,950 (GRCm39)	missense	possibly damaging	0.79
R7231:Slc26a4	UTSW	12	31,597,945 (GRCm39)	missense	probably damaging	1.00
R7286:Slc26a4	UTSW	12	31,579,527 (GRCm39)	nonsense	probably null
R7790:Slc26a4	UTSW	12	31,594,482 (GRCm39)	missense	probably damaging	1.00
R7812:Slc26a4	UTSW	12	31,594,449 (GRCm39)	missense	probably damaging	1.00
R8002:Slc26a4	UTSW	12	31,597,969 (GRCm39)	missense	probably benign	0.00
R8362:Slc26a4	UTSW	12	31,594,506 (GRCm39)	missense	probably benign	0.00
R8531:Slc26a4	UTSW	12	31,599,911 (GRCm39)	critical splice donor site	probably null
R8988:Slc26a4	UTSW	12	31,572,523 (GRCm39)	missense	probably benign	0.00
R9216:Slc26a4	UTSW	12	31,578,659 (GRCm39)	missense	possibly damaging	0.51
R9335:Slc26a4	UTSW	12	31,575,553 (GRCm39)	missense	probably damaging	0.99
R9354:Slc26a4	UTSW	12	31,585,255 (GRCm39)	missense	possibly damaging	0.91
R9680:Slc26a4	UTSW	12	31,585,292 (GRCm39)	missense	probably damaging	1.00
X0022:Slc26a4	UTSW	12	31,585,686 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02