Mutagenetix > Incidental Mutation

Incidental Mutation 'R7231:Slc26a4'

562491

Institutional Source

Beutler Lab

Gene Symbol

Slc26a4

Ensembl Gene

ENSMUSG00000020651

Gene Name

solute carrier family 26, member 4

Synonyms

pendrin, Pds

MMRRC Submission

045342-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7231 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31569826-31609968 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 31597945 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 167 (N167I)

Ref Sequence

ENSEMBL: ENSMUSP00000001253 (fasta)

Gene Model

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

AlphaFold

Q9R155

Predicted Effect

probably damaging
Transcript: ENSMUST00000001253
AA Change: N167I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000001253
Gene: ENSMUSG00000020651
AA Change: N167I

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

Meta Mutation Damage Score

0.1644

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (78/80)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,244,175 (GRCm39)	T2013S	probably benign	Het
Ablim3	A	G	18: 61,938,135 (GRCm39)		probably null	Het
Acvrl1	T	A	15: 101,034,104 (GRCm39)	C206*	probably null	Het
Adamts15	C	A	9: 30,817,454 (GRCm39)	R541S	probably damaging	Het
Add3	A	G	19: 53,221,577 (GRCm39)	I230V	probably benign	Het
Ankrd27	A	G	7: 35,327,871 (GRCm39)	D742G	possibly damaging	Het
Asxl3	A	G	18: 22,650,597 (GRCm39)	E862G	probably damaging	Het
Asxl3	A	T	18: 22,544,556 (GRCm39)		probably null	Het
Atp2b2	G	A	6: 113,742,693 (GRCm39)	T798M	possibly damaging	Het
Car12	T	C	9: 66,659,599 (GRCm39)	I208T	probably damaging	Het
Cgn	T	A	3: 94,680,502 (GRCm39)	Q600L	probably damaging	Het
Cgnl1	C	T	9: 71,539,927 (GRCm39)	A1106T	probably benign	Het
Cmtr2	T	C	8: 110,949,178 (GRCm39)	V496A	probably benign	Het
Cplx4	C	A	18: 66,090,123 (GRCm39)	D99Y	probably damaging	Het
Cyfip2	T	C	11: 46,114,963 (GRCm39)	T915A	probably benign	Het
Cyp4a32	T	C	4: 115,466,894 (GRCm39)	L193P	probably damaging	Het
Dennd5b	C	T	6: 148,946,102 (GRCm39)	R503Q	probably damaging	Het
Depdc5	C	A	5: 33,059,209 (GRCm39)	Q303K	possibly damaging	Het
Dlx1	T	A	2: 71,362,840 (GRCm39)	M249K	possibly damaging	Het
Dnah10	A	T	5: 124,890,892 (GRCm39)	E3218V	probably benign	Het
Dnah9	T	C	11: 65,856,473 (GRCm39)	D2896G	probably damaging	Het
Dtx4	C	A	19: 12,447,022 (GRCm39)	G557*	probably null	Het
Eps8l2	A	G	7: 140,940,305 (GRCm39)	N512D	probably damaging	Het
Fam20a	T	C	11: 109,612,201 (GRCm39)	D114G	possibly damaging	Het
Fbln1	T	C	15: 85,090,353 (GRCm39)	S7P	unknown	Het
Fli1	T	C	9: 32,335,484 (GRCm39)	E316G	probably damaging	Het
Fmn2	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	1: 174,436,769 (GRCm39)		probably benign	Het
Haus8	G	A	8: 71,705,781 (GRCm39)	T302I	probably benign	Het
Hmcn1	T	C	1: 150,514,627 (GRCm39)	I3582V	probably benign	Het
Hnrnpul1	G	A	7: 25,447,842 (GRCm39)	Q161*	probably null	Het
Hsf4	C	T	8: 105,998,779 (GRCm39)	A223V	probably damaging	Het
Ighg2c	A	G	12: 113,251,636 (GRCm39)	W164R		Het
Isl1	A	G	13: 116,439,826 (GRCm39)	V174A	probably benign	Het
Itih4	A	T	14: 30,618,571 (GRCm39)	I661F	probably benign	Het
Klhl14	A	T	18: 21,785,193 (GRCm39)	L78Q	probably damaging	Het
L3mbtl3	T	A	10: 26,215,180 (GRCm39)	I177F	unknown	Het
Lingo3	T	A	10: 80,670,938 (GRCm39)	T331S	possibly damaging	Het
Lrrc36	T	C	8: 106,187,689 (GRCm39)	V535A	possibly damaging	Het
Mapk8ip2	T	G	15: 89,342,279 (GRCm39)	S497A	probably benign	Het
Mbip	A	G	12: 56,384,547 (GRCm39)		probably null	Het
Nelfa	C	T	5: 34,056,169 (GRCm39)	G498D	probably damaging	Het
Nherf2	C	T	17: 24,869,078 (GRCm39)	R16H	probably damaging	Het
Nlrc5	T	A	8: 95,248,433 (GRCm39)		probably null	Het
Or2ag2b	A	T	7: 106,417,650 (GRCm39)	Y120F	probably damaging	Het
Or4f59	A	T	2: 111,872,711 (GRCm39)	V222D	probably damaging	Het
Or56a3	T	C	7: 104,734,994 (GRCm39)	S24P	possibly damaging	Het
Or7e171-ps1	T	A	9: 19,852,855 (GRCm39)	T294S	unknown	Het
Pde2a	A	G	7: 101,155,160 (GRCm39)	Y567C	probably damaging	Het
Pdia4	A	T	6: 47,777,891 (GRCm39)	F367Y	probably benign	Het
Pkdrej	C	A	15: 85,700,389 (GRCm39)	C1849F	possibly damaging	Het
Plekhj1	T	G	10: 80,633,492 (GRCm39)	T52P	probably damaging	Het
Ppp2r5d	A	T	17: 46,994,986 (GRCm39)	Y572N	probably benign	Het
Prkcq	T	A	2: 11,295,262 (GRCm39)	Y570*	probably null	Het
Ptpn3	T	A	4: 57,245,062 (GRCm39)	D226V	probably damaging	Het
Rab1b	A	G	19: 5,155,229 (GRCm39)	S22P	probably damaging	Het
Ralgapa1	A	G	12: 55,650,976 (GRCm39)	S2060P	probably damaging	Het
Rnf148	G	T	6: 23,654,890 (GRCm39)	S35R	probably benign	Het
Runx2	G	A	17: 45,125,079 (GRCm39)	P80L	probably damaging	Het
Samd15	T	A	12: 87,247,818 (GRCm39)	S168T	possibly damaging	Het
Slc39a1	C	A	3: 90,159,097 (GRCm39)	H141Q	probably benign	Het
Snx21	T	C	2: 164,628,121 (GRCm39)	S46P	probably benign	Het
Strip2	A	G	6: 29,944,486 (GRCm39)	S657G	probably damaging	Het
Stxbp3	G	A	3: 108,708,125 (GRCm39)	P392L	probably damaging	Het
Suclg1	G	A	6: 73,240,954 (GRCm39)	R161H	probably benign	Het
Tas1r3	T	C	4: 155,947,283 (GRCm39)	Y134C	probably damaging	Het
Tgif1	T	A	17: 71,153,168 (GRCm39)	Q114L	probably damaging	Het
Tll2	A	G	19: 41,074,673 (GRCm39)	F964L	probably benign	Het
Tmem181a	T	C	17: 6,348,195 (GRCm39)	S247P	possibly damaging	Het
Trav23	A	T	14: 54,215,025 (GRCm39)	R79S	probably damaging	Het
Trf	C	A	9: 103,102,347 (GRCm39)	C177F	probably damaging	Het
Triml1	T	C	8: 43,589,408 (GRCm39)	Y260C	probably benign	Het
Tulp4	T	C	17: 6,286,510 (GRCm39)	F1513L	probably benign	Het
Umodl1	G	A	17: 31,205,090 (GRCm39)	V562I	probably damaging	Het
Ush2a	A	G	1: 188,491,960 (GRCm39)	K3083R	possibly damaging	Het
Vmn1r74	A	T	7: 11,580,888 (GRCm39)	I63F	probably benign	Het
Vmn2r38	C	T	7: 9,100,637 (GRCm39)	C43Y	possibly damaging	Het
Vmn2r50	A	T	7: 9,787,010 (GRCm39)	N32K	probably benign	Het
Vps13d	A	G	4: 144,784,032 (GRCm39)	V3914A		Het
Vwa5b2	A	G	16: 20,422,878 (GRCm39)	T984A	probably benign	Het
Zc3h3	C	T	15: 75,712,231 (GRCm39)	V77M	probably damaging	Het
Zfp397	A	T	18: 24,093,415 (GRCm39)	H300L	probably damaging	Het
Zfp950	G	A	19: 61,107,650 (GRCm39)	R478C	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- CTGGCTGAGCGCATTTGAAC -3'
(R):5'- ACAGCTAACTATCGCATGCTTTTC -3'

Sequencing Primer
(F):5'- GAGCGCATTTGAACACTTTTTC -3'
(R):5'- GCATGCTTTTCTAGTTGTACACAG -3'

Posted On

2019-06-26