Mutagenetix > Incidental Mutation

Incidental Mutation 'R4762:Slc26a11'

356980

Institutional Source

Beutler Lab

Gene Symbol

Slc26a11

Ensembl Gene

ENSMUSG00000039908

Gene Name

solute carrier family 26, member 11

Synonyms

F630021I08Rik

MMRRC Submission

042403-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.151) question?

Stock #

R4762 (G1)

Quality Score

224

Status

Validated

Chromosome

Chromosomal Location

119246383-119271905 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to A at 119247657 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115587 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005173] [ENSMUST00000050880] [ENSMUST00000100172] [ENSMUST00000136523]

AlphaFold

Q80ZD3

Predicted Effect

probably benign
Transcript: ENSMUST00000005173

SMART Domains

Protein: ENSMUSP00000005173
Gene: ENSMUSG00000005043

Domain	Start	End	E-Value	Type
Pfam:Sulfatase	23	328	2.6e-60	PFAM
Pfam:Phosphodiest	25	287	5.2e-8	PFAM
low complexity region	348	357	N/A	INTRINSIC
Pfam:DUF4976	400	477	1.5e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000050880

SMART Domains

Protein: ENSMUSP00000050999
Gene: ENSMUSG00000039908

Domain	Start	End	E-Value	Type
Pfam:Sulfate_transp	31	424	1.8e-97	PFAM
transmembrane domain	426	448	N/A	INTRINSIC
Pfam:STAS	453	559	3.6e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000100172

SMART Domains

Protein: ENSMUSP00000097748
Gene: ENSMUSG00000005043

Domain	Start	End	E-Value	Type
Pfam:Sulfatase	23	250	1.7e-35	PFAM
Pfam:Phosphodiest	25	237	2.7e-8	PFAM
low complexity region	311	329	N/A	INTRINSIC
low complexity region	395	408	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123634

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133507

Predicted Effect

probably benign
Transcript: ENSMUST00000136523

SMART Domains

Protein: ENSMUSP00000115587
Gene: ENSMUSG00000005043

Domain	Start	End	E-Value	Type
PDB:4MIV\|H	1	30	1e-5	PDB
low complexity region	40	56	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141540

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147366

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

100% (86/86)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the solute linked carrier 26 family of anion exchangers. Members of this family of proteins are essential for numerous cellular functions including homeostasis and intracellular electrolyte balance. The encoded protein is a sodium independent sulfate transporter that is sensitive to the anion exchanger inhibitor 4,4'-diisothiocyanostilbene-2,2'-disulfonic acid. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012P17Rik	T	C	1: 158,797,126 (GRCm39)		noncoding transcript	Het
2310030G06Rik	T	C	9: 50,651,967 (GRCm39)	E87G	probably damaging	Het
Aknad1	A	T	3: 108,682,547 (GRCm39)	H541L	possibly damaging	Het
Asb15	A	G	6: 24,567,236 (GRCm39)	E519G	possibly damaging	Het
Atad2	T	C	15: 57,971,758 (GRCm39)	D373G	probably benign	Het
Bbs12	G	A	3: 37,374,529 (GRCm39)	V326M	probably damaging	Het
Birc6	T	C	17: 74,936,484 (GRCm39)	I2617T	probably damaging	Het
Brca2	A	G	5: 150,454,581 (GRCm39)	T115A	probably benign	Het
Casz1	T	C	4: 149,023,438 (GRCm39)	L495P	probably damaging	Het
Ccdc30	T	A	4: 119,190,785 (GRCm39)	I481F	probably damaging	Het
Cept1	A	T	3: 106,446,677 (GRCm39)	Y56*	probably null	Het
Cfap54	A	C	10: 92,897,315 (GRCm39)		probably null	Het
Cyp2j8	G	T	4: 96,358,886 (GRCm39)	D344E	probably damaging	Het
Dido1	A	T	2: 180,331,368 (GRCm39)	W27R	probably damaging	Het
Disp3	A	G	4: 148,356,575 (GRCm39)	I95T	probably damaging	Het
Engase	G	T	11: 118,377,920 (GRCm39)	V237F	possibly damaging	Het
Ephb6	G	A	6: 41,595,094 (GRCm39)	E703K	probably damaging	Het
Fnip1	T	A	11: 54,356,997 (GRCm39)	F35L	probably damaging	Het
Fnip1	A	T	11: 54,390,352 (GRCm39)	T440S	probably benign	Het
Fras1	T	A	5: 96,879,477 (GRCm39)	H2431Q	probably benign	Het
Fzd4	A	T	7: 89,056,924 (GRCm39)	T324S	probably damaging	Het
Gm10192	C	G	4: 97,071,345 (GRCm39)	S20T	probably null	Het
Gpr84	A	T	15: 103,217,027 (GRCm39)	V350E	probably damaging	Het
Gsto2	T	C	19: 47,863,312 (GRCm39)	Y63H	probably damaging	Het
Gtpbp6	T	C	5: 110,252,186 (GRCm39)	T449A	probably damaging	Het
Herc2	G	A	7: 55,820,388 (GRCm39)	V2876I	probably benign	Het
Hnrnpa3	A	G	2: 75,492,351 (GRCm39)	I152V	possibly damaging	Het
Hpse2	T	C	19: 42,777,510 (GRCm39)	D552G	possibly damaging	Het
Itfg1	A	G	8: 86,459,070 (GRCm39)	V460A	possibly damaging	Het
Jhy	G	A	9: 40,822,494 (GRCm39)	A548V	probably benign	Het
Klhl21	T	A	4: 152,094,268 (GRCm39)	L290Q	possibly damaging	Het
Knl1	T	C	2: 118,902,417 (GRCm39)	S1373P	probably benign	Het
Kpna2	A	C	11: 106,881,085 (GRCm39)	M426R	probably benign	Het
Krt9	C	T	11: 100,081,675 (GRCm39)	V285I	probably damaging	Het
Lpar1	T	G	4: 58,437,346 (GRCm39)	H361P	possibly damaging	Het
Macf1	T	C	4: 123,349,237 (GRCm39)	T2100A	probably benign	Het
Mfsd13b	T	C	7: 120,590,549 (GRCm39)	F97L	probably damaging	Het
Mmp15	A	G	8: 96,098,958 (GRCm39)	K595R	probably benign	Het
Mrps25	C	T	6: 92,152,085 (GRCm39)	G145D	probably damaging	Het
Muc4	T	A	16: 32,574,916 (GRCm39)		probably benign	Het
Napa	A	T	7: 15,849,196 (GRCm39)	K245N	probably benign	Het
Or10p1	C	A	10: 129,444,043 (GRCm39)	M102I	probably damaging	Het
Or14c39	A	G	7: 86,344,329 (GRCm39)	T222A	probably benign	Het
Or2y1c	A	T	11: 49,361,112 (GRCm39)	I45F	probably damaging	Het
Or4g17	G	A	2: 111,210,082 (GRCm39)	V246M	probably damaging	Het
Or4k39	T	A	2: 111,239,225 (GRCm39)		noncoding transcript	Het
Or5au1	T	A	14: 52,272,921 (GRCm39)	I216F	possibly damaging	Het
Or8c20	A	G	9: 38,260,577 (GRCm39)	Y60C	probably damaging	Het
Or8k35	A	G	2: 86,424,381 (GRCm39)	S264P	possibly damaging	Het
Papss2	A	T	19: 32,616,378 (GRCm39)	T195S	probably benign	Het
Parp4	T	A	14: 56,848,267 (GRCm39)	H694Q	probably damaging	Het
Patj	C	T	4: 98,293,807 (GRCm39)	R20*	probably null	Het
Pcdhgb8	T	A	18: 37,895,419 (GRCm39)	V163E	probably damaging	Het
Pkd2l1	T	A	19: 44,144,060 (GRCm39)	T338S	probably benign	Het
Ppargc1b	A	T	18: 61,444,328 (GRCm39)	S278R	possibly damaging	Het
Ppl	T	C	16: 4,906,846 (GRCm39)	T1150A	probably benign	Het
Ralgds	A	G	2: 28,442,164 (GRCm39)	D858G	probably damaging	Het
Rassf2	G	A	2: 131,844,783 (GRCm39)		probably benign	Het
Ring1	T	C	17: 34,240,971 (GRCm39)		probably benign	Het
Rusc1	A	C	3: 88,998,949 (GRCm39)	S278A	probably benign	Het
Samd9l	T	C	6: 3,375,623 (GRCm39)	N546S	probably benign	Het
Sct	A	C	7: 140,858,954 (GRCm39)		probably benign	Het
Slc22a12	T	G	19: 6,588,474 (GRCm39)	H348P	probably benign	Het
Slc25a15	A	G	8: 22,873,248 (GRCm39)	S143P	probably damaging	Het
Slc6a20b	A	G	9: 123,427,625 (GRCm39)	M428T	probably damaging	Het
Smim17	G	A	7: 6,432,321 (GRCm39)	V88M	probably damaging	Het
Smoc1	G	T	12: 81,214,425 (GRCm39)	W269L	probably damaging	Het
Sox5	C	T	6: 143,807,109 (GRCm39)		probably null	Het
Sp100	A	G	1: 85,629,179 (GRCm39)	*483W	probably null	Het
Sptbn5	T	A	2: 119,907,703 (GRCm39)		noncoding transcript	Het
Sun5	G	A	2: 153,707,283 (GRCm39)	R132*	probably null	Het
Tedc2	A	G	17: 24,435,354 (GRCm39)	V345A	probably benign	Het
Tlr6	T	A	5: 65,111,739 (GRCm39)	R389S	probably benign	Het
Ttc17	G	T	2: 94,202,113 (GRCm39)	H396Q	probably damaging	Het
Ttn	A	G	2: 76,773,383 (GRCm39)	S2340P	probably damaging	Het
Vmn1r219	C	T	13: 23,346,999 (GRCm39)	Q63*	probably null	Het
Vmn1r224	A	G	17: 20,639,902 (GRCm39)	T160A	possibly damaging	Het
Vmn2r11	T	C	5: 109,195,436 (GRCm39)	N630S	probably damaging	Het
Zfp1005	T	A	2: 150,109,549 (GRCm39)	C80S	possibly damaging	Het
Zfp747	A	G	7: 126,973,498 (GRCm39)	V224A	possibly damaging	Het
Zfp804b	T	C	5: 6,822,250 (GRCm39)	N271S	probably benign	Het

Other mutations in Slc26a11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00941:Slc26a11	APN	11	119,270,727 (GRCm39)	missense	probably benign	0.00
IGL01359:Slc26a11	APN	11	119,254,257 (GRCm39)	missense	probably benign	0.00
IGL01835:Slc26a11	APN	11	119,268,040 (GRCm39)	missense	probably benign
R0193:Slc26a11	UTSW	11	119,250,140 (GRCm39)	missense	probably damaging	1.00
R0362:Slc26a11	UTSW	11	119,270,767 (GRCm39)	splice site	probably benign
R0709:Slc26a11	UTSW	11	119,265,603 (GRCm39)	missense	probably damaging	1.00
R1800:Slc26a11	UTSW	11	119,263,979 (GRCm39)	missense	probably damaging	0.97
R1964:Slc26a11	UTSW	11	119,271,020 (GRCm39)	missense	possibly damaging	0.93
R5153:Slc26a11	UTSW	11	119,268,085 (GRCm39)	missense	possibly damaging	0.67
R5302:Slc26a11	UTSW	11	119,254,276 (GRCm39)	missense	probably damaging	0.99
R5660:Slc26a11	UTSW	11	119,248,804 (GRCm39)	missense	probably damaging	0.98
R5994:Slc26a11	UTSW	11	119,270,738 (GRCm39)	missense	probably benign	0.14
R6025:Slc26a11	UTSW	11	119,265,654 (GRCm39)	missense	probably damaging	1.00
R6275:Slc26a11	UTSW	11	119,250,125 (GRCm39)	missense	probably benign	0.44
R6970:Slc26a11	UTSW	11	119,247,798 (GRCm39)	missense	probably damaging	1.00
R6974:Slc26a11	UTSW	11	119,248,844 (GRCm39)	missense	possibly damaging	0.82
R7466:Slc26a11	UTSW	11	119,265,328 (GRCm39)	missense	probably damaging	0.99
R8210:Slc26a11	UTSW	11	119,270,692 (GRCm39)	missense	possibly damaging	0.84
R8459:Slc26a11	UTSW	11	119,259,643 (GRCm39)	missense	possibly damaging	0.88
R9238:Slc26a11	UTSW	11	119,265,733 (GRCm39)	critical splice donor site	probably null
R9324:Slc26a11	UTSW	11	119,267,730 (GRCm39)	missense	probably benign	0.00
R9393:Slc26a11	UTSW	11	119,259,627 (GRCm39)	missense	probably benign
X0026:Slc26a11	UTSW	11	119,271,056 (GRCm39)	missense	probably benign
X0028:Slc26a11	UTSW	11	119,271,020 (GRCm39)	missense	possibly damaging	0.93
Z1177:Slc26a11	UTSW	11	119,247,785 (GRCm39)	missense	not run

Predicted Primers

PCR Primer
(F):5'- TCCCTGAATCCTTGGTGCAG -3'
(R):5'- GTCCAGCCACTTCTGCATAG -3'

Sequencing Primer
(F):5'- AGGCCCATGTGCACATTTTG -3'
(R):5'- AGCCACTTCTGCATAGGCCAG -3'

Posted On

2015-11-11