Mutagenetix > Incidental Mutation

Incidental Mutation 'R8531:Slc26a4'

659061

Institutional Source

Beutler Lab

Gene Symbol

Slc26a4

Ensembl Gene

ENSMUSG00000020651

Gene Name

solute carrier family 26, member 4

Synonyms

pendrin, Pds

MMRRC Submission

068501-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8531 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

31569826-31609968 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 31599911 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 null
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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	A	T	15: 81,950,622 (GRCm39)	R1506S	probably benign	Het
Acox2	T	C	14: 8,247,960 (GRCm38)	T441A	probably damaging	Het
Adam6a	A	G	12: 113,508,917 (GRCm39)	E430G	probably damaging	Het
Afg3l2	T	C	18: 67,540,439 (GRCm39)	E690G	probably damaging	Het
Alb	A	G	5: 90,611,873 (GRCm39)	I101V	probably benign	Het
Arhgef19	T	C	4: 140,976,903 (GRCm39)	I493T	possibly damaging	Het
Btnl2	T	C	17: 34,577,028 (GRCm39)	M61T	probably benign	Het
Cyp2d11	A	G	15: 82,273,429 (GRCm39)	Y481H	probably benign	Het
Dennd4c	T	C	4: 86,744,319 (GRCm39)		probably null	Het
Dhx9	C	A	1: 153,334,182 (GRCm39)	V993F	possibly damaging	Het
Dlk1	A	G	12: 109,424,066 (GRCm39)	Q110R	probably null	Het
Dmp1	A	C	5: 104,360,269 (GRCm39)	D315A	probably damaging	Het
Dnah3	T	C	7: 119,550,591 (GRCm39)	K3243E	probably damaging	Het
Dsc3	T	C	18: 20,101,449 (GRCm39)	N648S	probably benign	Het
Dsc3	C	T	18: 20,114,274 (GRCm39)	D327N	probably damaging	Het
Egr4	T	C	6: 85,489,106 (GRCm39)	D318G	probably damaging	Het
Fiz1	A	T	7: 5,012,163 (GRCm39)	C118*	probably null	Het
Flad1	A	C	3: 89,310,517 (GRCm39)	Y479D	probably damaging	Het
Flnb	T	C	14: 7,929,939 (GRCm38)	F2023S	probably damaging	Het
Glp1r	T	C	17: 31,143,531 (GRCm39)	L189P	probably damaging	Het
Grm5	A	T	7: 87,779,724 (GRCm39)	T1055S	probably benign	Het
Gucy1a1	A	G	3: 82,018,468 (GRCm39)	I123T	probably benign	Het
Ifnar1	T	A	16: 91,292,344 (GRCm39)	C199*	probably null	Het
Lepr	A	T	4: 101,622,612 (GRCm39)	Y464F	probably damaging	Het
Mamdc4	G	T	2: 25,457,730 (GRCm39)	Q452K	possibly damaging	Het
Map2k6	A	G	11: 110,290,175 (GRCm39)		probably benign	Het
Mphosph10	T	C	7: 64,034,076 (GRCm39)	I429V	possibly damaging	Het
Neb	T	A	2: 52,181,074 (GRCm39)	M1178L	possibly damaging	Het
Nherf4	T	C	9: 44,159,670 (GRCm39)	E442G	probably damaging	Het
Npc2	C	A	12: 84,807,612 (GRCm39)	R82L	probably benign	Het
Olfm5	A	T	7: 103,803,029 (GRCm39)	M478K	probably benign	Het
Or5aq6	G	T	2: 86,923,670 (GRCm39)	Q24K	probably benign	Het
Or5k14	A	C	16: 58,693,016 (GRCm39)	L166V	probably damaging	Het
Osbpl9	T	C	4: 109,013,908 (GRCm39)	D62G	probably damaging	Het
Otog	C	T	7: 45,901,473 (GRCm39)	R391C	probably damaging	Het
Plppr4	T	C	3: 117,115,592 (GRCm39)	Y755C	probably damaging	Het
Pnpla8	T	A	12: 44,358,368 (GRCm39)	F708I	possibly damaging	Het
Pom121l12	A	T	11: 14,549,932 (GRCm39)	T213S	probably benign	Het
Pramel27	T	A	4: 143,579,601 (GRCm39)	D395E	probably benign	Het
Rabep1	T	C	11: 70,799,332 (GRCm39)	S278P	probably benign	Het
Rigi	A	G	4: 40,225,596 (GRCm39)		probably null	Het
Rnf213	C	G	11: 119,365,031 (GRCm39)	Q4563E	probably benign	Het
Rttn	C	A	18: 89,131,467 (GRCm39)	R1949S	probably benign	Het
Rwdd3	T	C	3: 120,952,788 (GRCm39)	I140V	probably benign	Het
Serpinb6a	A	T	13: 34,115,462 (GRCm39)	M53K	probably damaging	Het
Serpinb9g	A	T	13: 33,676,896 (GRCm39)	D226V	possibly damaging	Het
Serpind1	A	T	16: 17,160,847 (GRCm39)	Y459F	probably damaging	Het
Skor2	T	C	18: 76,946,569 (GRCm39)	V97A	unknown	Het
Slc4a10	T	C	2: 62,097,851 (GRCm39)	Y517H	probably damaging	Het
Sphkap	A	G	1: 83,254,909 (GRCm39)	W947R	probably damaging	Het
Sult3a2	T	C	10: 33,653,239 (GRCm39)	D167G	probably damaging	Het
Supt16	A	T	14: 52,410,020 (GRCm39)	M729K	probably damaging	Het
Tmem176b	A	G	6: 48,811,538 (GRCm39)	I37T	possibly damaging	Het
Tmem259	A	G	10: 79,813,819 (GRCm39)	V423A	probably damaging	Het
Tmem62	G	T	2: 120,837,533 (GRCm39)	L483F	probably damaging	Het
Tnfrsf13b	T	C	11: 61,031,777 (GRCm39)		probably null	Het
Tut7	A	T	13: 59,937,074 (GRCm39)	I1191K	probably damaging	Het
Txk	C	A	5: 72,893,720 (GRCm39)	C20F	possibly damaging	Het
Ube2w	A	C	1: 16,672,542 (GRCm39)	N46K	probably benign	Het
Unc79	A	T	12: 103,013,922 (GRCm39)	H300L	probably damaging	Het
Unc79	T	A	12: 103,049,855 (GRCm39)	H920Q	probably benign	Het
Vmn1r16	A	G	6: 57,299,900 (GRCm39)	Y241H	probably damaging	Het
Vmn2r100	A	T	17: 19,742,459 (GRCm39)	I278F	possibly damaging	Het
Zfp260	T	A	7: 29,804,884 (GRCm39)	H261Q	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
IGL03037:Slc26a4	APN	12	31,581,686 (GRCm39)	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- AAGCACAGTCCCATATGTAGC -3'
(R):5'- CAGGACAGGCTGATATTTTGAATCC -3'

Sequencing Primer
(F):5'- GTAGCTAACATTGCCAGTTAATAGAG -3'
(R):5'- CCATAAACTGAGTATGTCTCTGGG -3'

Posted On

2021-01-18