Mutagenetix > Incidental Mutation

Incidental Mutation 'R7812:Slc26a4'

601246

Institutional Source

Beutler Lab

Gene Symbol

Slc26a4

Ensembl Gene

ENSMUSG00000020651

Gene Name

solute carrier family 26, member 4

Synonyms

pendrin, Pds

MMRRC Submission

045867-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7812 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

31569826-31609968 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 31594449 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 300 (I300F)

Ref Sequence

ENSEMBL: ENSMUSP00000001253 (fasta)

Gene Model

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

AlphaFold

Q9R155

Predicted Effect

probably damaging
Transcript: ENSMUST00000001253
AA Change: I300F

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

SMART Domains

Protein: ENSMUSP00000001253
Gene: ENSMUSG00000020651
AA Change: I300F

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: 99.9%
10x: 99.6%
20x: 98.7%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	C	A	9: 57,165,141 (GRCm39)	C411F	probably damaging	Het
Abhd17c	G	T	7: 83,800,624 (GRCm39)	Y143*	probably null	Het
Acad11	T	G	9: 103,972,747 (GRCm39)	L480R	probably benign	Het
Acad8	A	T	9: 26,890,476 (GRCm39)	N277K	probably damaging	Het
Adcy10	A	G	1: 165,342,938 (GRCm39)	Y268C	probably damaging	Het
Adm2	A	T	15: 89,208,367 (GRCm39)	R102S	possibly damaging	Het
Ambra1	A	T	2: 91,596,911 (GRCm39)	M1L	probably benign	Het
Angpt2	T	C	8: 18,742,161 (GRCm39)	N465S	probably benign	Het
Arhgap17	T	C	7: 122,879,290 (GRCm39)	I820M	unknown	Het
Atf7ip	G	A	6: 136,580,415 (GRCm39)	R1113Q	probably damaging	Het
Atp5pb	A	G	3: 105,851,157 (GRCm39)	V180A	probably benign	Het
Auts2	C	T	5: 131,501,284 (GRCm39)	R43H		Het
Cacna1g	A	T	11: 94,334,880 (GRCm39)	I809N	probably benign	Het
Cand1	A	T	10: 119,053,864 (GRCm39)	M158K	probably benign	Het
Cars1	T	A	7: 143,123,784 (GRCm39)	I500F	probably damaging	Het
Ccdc18	T	A	5: 108,328,699 (GRCm39)	M706K	probably benign	Het
Ccdc180	G	A	4: 45,906,952 (GRCm39)		probably null	Het
Ces1f	A	G	8: 93,984,938 (GRCm39)	V463A	probably benign	Het
Cndp1	G	T	18: 84,655,994 (GRCm39)	D58E	probably benign	Het
Csnk2b	A	T	17: 35,339,431 (GRCm39)	F21Y	probably benign	Het
Dgkg	C	G	16: 22,385,165 (GRCm39)	R447T	probably damaging	Het
Dnajc12	A	G	10: 63,242,905 (GRCm39)	D141G	probably benign	Het
Edar	A	G	10: 58,465,926 (GRCm39)	V4A	probably benign	Het
Elf1	A	G	14: 79,802,998 (GRCm39)	D117G	probably damaging	Het
Fam124b	T	C	1: 80,191,351 (GRCm39)	T11A	probably damaging	Het
Fgl2	C	A	5: 21,577,896 (GRCm39)	T61K	probably benign	Het
Furin	T	C	7: 80,045,722 (GRCm39)	N218S	possibly damaging	Het
Gcn1	T	A	5: 115,731,751 (GRCm39)	H955Q	possibly damaging	Het
Gucy2e	A	G	11: 69,117,069 (GRCm39)	I784T	probably damaging	Het
Ice1	T	A	13: 70,751,124 (GRCm39)	Q1654L	possibly damaging	Het
Klhl28	T	C	12: 64,990,363 (GRCm39)	N526S	possibly damaging	Het
Ldlrad4	C	A	18: 68,239,742 (GRCm39)	P54Q	probably benign	Het
Lsm14a	A	G	7: 34,088,301 (GRCm39)		probably benign	Het
Mdga1	A	G	17: 30,062,115 (GRCm39)	V438A	probably benign	Het
Mrto4	A	G	4: 139,075,278 (GRCm39)	V175A	possibly damaging	Het
Nav2	T	G	7: 49,246,921 (GRCm39)	S2149A	probably benign	Het
Nr4a2	A	G	2: 57,002,430 (GRCm39)	Y8H	probably damaging	Het
Or10q12	T	C	19: 13,746,380 (GRCm39)	F225L	probably benign	Het
Or1j12	T	A	2: 36,343,290 (GRCm39)	I231N	probably benign	Het
Or1j18	A	T	2: 36,624,737 (GRCm39)	M135L	probably benign	Het
Or52e4	T	C	7: 104,705,894 (GRCm39)	L147P	possibly damaging	Het
Oxr1	T	A	15: 41,615,138 (GRCm39)	M1K	probably null	Het
Pbx3	T	C	2: 34,114,478 (GRCm39)	Y152C	probably damaging	Het
Pcdhb13	T	A	18: 37,575,645 (GRCm39)	C8S	probably benign	Het
Polr1c	G	A	17: 46,557,053 (GRCm39)	R77W	probably damaging	Het
Psg25	A	T	7: 18,255,093 (GRCm39)	N474K	possibly damaging	Het
Ralgapa1	T	A	12: 55,766,413 (GRCm39)	M838L	possibly damaging	Het
Ranbp2	A	G	10: 58,303,224 (GRCm39)	T799A	probably benign	Het
Sbf2	C	T	7: 110,049,170 (GRCm39)	V265I	possibly damaging	Het
Scarf2	G	A	16: 17,621,692 (GRCm39)	G381R	probably damaging	Het
Shprh	A	G	10: 11,027,735 (GRCm39)	Q114R	probably benign	Het
Sipa1l2	A	C	8: 126,218,334 (GRCm39)	D334E	probably damaging	Het
Sox7	C	T	14: 64,185,681 (GRCm39)	T239I	probably benign	Het
Sry	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	Y: 2,662,638 (GRCm39)		probably benign	Het
St6galnac1	G	T	11: 116,659,927 (GRCm39)	H129N	probably benign	Het
Stxbp4	A	G	11: 90,485,654 (GRCm39)	L231P	probably damaging	Het
Syngap1	A	C	17: 27,160,478 (GRCm39)	Y18S	probably benign	Het
Tenm3	T	C	8: 48,729,335 (GRCm39)	Y1557C	probably benign	Het
Trim44	G	T	2: 102,230,489 (GRCm39)	P181T	possibly damaging	Het
Trp53i13	A	T	11: 77,399,666 (GRCm39)	V221D	possibly damaging	Het
Trpm7	A	G	2: 126,641,236 (GRCm39)	S1554P	probably damaging	Het
Vcl	A	G	14: 21,045,158 (GRCm39)	N288D	probably benign	Het
Vmn2r59	A	T	7: 41,695,196 (GRCm39)	Y405*	probably null	Het
Vps35	T	C	8: 86,010,818 (GRCm39)	D175G	probably benign	Het
Wdr90	A	T	17: 26,071,532 (GRCm39)	L949Q	probably damaging	Het
Wwp1	G	A	4: 19,639,991 (GRCm39)	T517I	probably damaging	Het
Zfp462	T	G	4: 55,008,509 (GRCm39)	F158L	probably benign	Het
Zfp703	T	A	8: 27,469,906 (GRCm39)	H523Q	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
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'- AAGTTGGCCCCATAGGAAATG -3'
(R):5'- ACTCACATGTGCTGTTTGATG -3'

Sequencing Primer
(F):5'- ATGGCAGTAGCAATTATTGTCTG -3'
(R):5'- ACATGTGCTGTTTGATGTGATATGAC -3'

Posted On

2019-11-26