Mutagenetix > Incidental Mutation

Incidental Mutation 'R3833:Slc26a6'

275484

Institutional Source

Beutler Lab

Gene Symbol

Slc26a6

Ensembl Gene

ENSMUSG00000023259

Gene Name

solute carrier family 26, member 6

Synonyms

B930010B04Rik, CFEX, Pat1

MMRRC Submission

040888-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

R3833 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108731239-108742117 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 108733117 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 32 (T32I)

Ref Sequence

ENSEMBL: ENSMUSP00000095979 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024238] [ENSMUST00000098376] [ENSMUST00000188557] [ENSMUST00000192507] [ENSMUST00000192559] [ENSMUST00000193291] [ENSMUST00000193874] [ENSMUST00000213524]

AlphaFold

Q8CIW6

Predicted Effect

probably benign
Transcript: ENSMUST00000024238

SMART Domains

Protein: ENSMUSP00000024238
Gene: ENSMUSG00000023473

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
low complexity region	264	293	N/A	INTRINSIC
CA	338	422	2.25e-27	SMART
CA	446	534	5.05e-30	SMART
CA	558	640	7.6e-25	SMART
CA	664	745	7.36e-32	SMART
CA	769	847	5.95e-18	SMART
CA	871	950	5.25e-28	SMART
CA	974	1056	2.67e-29	SMART
CA	1080	1158	1.18e-21	SMART
CA	1186	1262	3.2e-1	SMART
low complexity region	1328	1335	N/A	INTRINSIC
low complexity region	1350	1360	N/A	INTRINSIC
EGF	1369	1424	1.02e-2	SMART
EGF	1429	1464	3.23e0	SMART
EGF	1467	1503	8.78e-2	SMART
LamG	1524	1691	2.27e-35	SMART
EGF	1714	1747	4.22e-4	SMART
LamG	1774	1913	9.02e-21	SMART
EGF	1938	1971	2.43e-4	SMART
EGF	1973	2009	1.3e-4	SMART
EGF_Lam	2066	2111	5.08e-7	SMART
HormR	2114	2176	3.42e-21	SMART
Pfam:GAIN	2188	2441	1.1e-57	PFAM
GPS	2467	2520	7.92e-20	SMART
Pfam:7tm_2	2527	2758	1.5e-56	PFAM
low complexity region	2813	2829	N/A	INTRINSIC
low complexity region	2882	2906	N/A	INTRINSIC
low complexity region	3058	3072	N/A	INTRINSIC
low complexity region	3149	3189	N/A	INTRINSIC
low complexity region	3239	3261	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098376
AA Change: T32I

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000095979
Gene: ENSMUSG00000023259
AA Change: T32I

Domain	Start	End	E-Value	Type
Pfam:Sulfate_transp	69	458	4.4e-113	PFAM
low complexity region	471	484	N/A	INTRINSIC
PDB:3LLO\|A	489	546	2e-16	PDB
low complexity region	554	593	N/A	INTRINSIC
low complexity region	638	650	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000188557
AA Change: T32I

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000140849
Gene: ENSMUSG00000023259
AA Change: T32I

Domain	Start	End	E-Value	Type
Pfam:Sulfate_tra_GLY	54	137	4.1e-33	PFAM
Pfam:Sulfate_transp	176	454	1.9e-67	PFAM
low complexity region	471	484	N/A	INTRINSIC
PDB:3LLO\|A	489	546	6e-16	PDB
low complexity region	554	593	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000192507
AA Change: T32I

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000141336
Gene: ENSMUSG00000023259
AA Change: T32I

Domain	Start	End	E-Value	Type
Pfam:Sulfate_tra_GLY	54	137	4.1e-33	PFAM
Pfam:Sulfate_transp	176	454	1.9e-67	PFAM
low complexity region	471	484	N/A	INTRINSIC
PDB:3LLO\|A	489	546	6e-16	PDB
low complexity region	554	593	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000192559
AA Change: T32I

PolyPhen 2 Score 0.596 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000141632
Gene: ENSMUSG00000023259
AA Change: T32I

Domain	Start	End	E-Value	Type
Pfam:Sulfate_tra_GLY	54	137	7.7e-34	PFAM
Pfam:Sulfate_transp	176	225	1.8e-5	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000193291
AA Change: T32I

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000142250
Gene: ENSMUSG00000023259
AA Change: T32I

Domain	Start	End	E-Value	Type
Pfam:Sulfate_tra_GLY	54	137	4.1e-33	PFAM
Pfam:Sulfate_transp	176	454	1.9e-67	PFAM
low complexity region	471	484	N/A	INTRINSIC
PDB:3LLO\|A	489	546	6e-16	PDB
low complexity region	554	593	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193463

Predicted Effect

possibly damaging
Transcript: ENSMUST00000193874
AA Change: T32I

PolyPhen 2 Score 0.596 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000141409
Gene: ENSMUSG00000023259
AA Change: T32I

Domain	Start	End	E-Value	Type
Pfam:Sulfate_tra_GLY	54	137	7.7e-34	PFAM
Pfam:Sulfate_transp	176	225	1.8e-5	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195646

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193825

Predicted Effect

probably benign
Transcript: ENSMUST00000213524

Meta Mutation Damage Score

0.2246

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.7%
20x: 96.4%

Validation Efficiency

97% (70/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the solute carrier 26 family, whose members encode anion transporter proteins. This particular family member encodes a protein involved in transporting chloride, oxalate, sulfate and bicarbonate. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Aug 2013]
PHENOTYPE: Homozygous null mice display abnormal proximal tubule and duodenal anion exchange, but are otherwise normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9630041A04Rik	G	A	9: 101,820,062 (GRCm39)	G161S	probably damaging	Het
Acp7	T	C	7: 28,314,519 (GRCm39)	D282G	probably benign	Het
Atp10d	T	A	5: 72,396,568 (GRCm39)	C258S	possibly damaging	Het
Atp6ap1	T	C	X: 73,340,813 (GRCm39)	I10T	possibly damaging	Het
Atp6v0d2	T	G	4: 19,922,395 (GRCm39)	N35H	probably damaging	Het
Bcat1	T	A	6: 144,955,834 (GRCm39)	D349V	probably damaging	Het
Cacnb2	A	T	2: 14,986,236 (GRCm39)	I338F	probably damaging	Het
Ccn6	T	C	10: 39,030,945 (GRCm39)	K193E	probably benign	Het
Ccr1	T	C	9: 123,764,324 (GRCm39)	T69A	possibly damaging	Het
Cenpe	T	G	3: 134,928,083 (GRCm39)		probably benign	Het
Cps1	G	A	1: 67,178,946 (GRCm39)	G53R	probably damaging	Het
Cstb	T	C	10: 78,263,184 (GRCm39)	F70L	probably benign	Het
Cyb5d2	G	T	11: 72,686,349 (GRCm39)	S80R	possibly damaging	Het
Cyfip2	T	C	11: 46,152,333 (GRCm39)	D485G	probably benign	Het
Cyp27b1	G	T	10: 126,886,929 (GRCm39)	V382L	probably damaging	Het
Cyp8b1	C	A	9: 121,745,109 (GRCm39)	Q74H	probably benign	Het
Dennd2a	G	A	6: 39,483,651 (GRCm39)	P403L	probably damaging	Het
Dennd2a	G	T	6: 39,483,657 (GRCm39)	S401Y	probably damaging	Het
Dnaaf5	T	C	5: 139,167,320 (GRCm39)	V447A	possibly damaging	Het
Dpp9	A	T	17: 56,506,113 (GRCm39)	F429I	possibly damaging	Het
Gcn1	A	T	5: 115,730,191 (GRCm39)	Q835L	probably benign	Het
Gtf2b	T	A	3: 142,477,153 (GRCm39)	D8E	probably benign	Het
Hao1	A	T	2: 134,364,925 (GRCm39)	V234D	probably damaging	Het
Hephl1	T	C	9: 14,981,044 (GRCm39)	E796G	probably damaging	Het
Herc4	A	G	10: 63,081,739 (GRCm39)	I21V	probably benign	Het
Htt	T	A	5: 34,979,062 (GRCm39)	V815D	probably benign	Het
Iglv2	A	T	16: 19,079,593 (GRCm39)	M1K	probably null	Het
Igsf8	G	T	1: 172,145,837 (GRCm39)	A315S	probably benign	Het
Il1a	T	C	2: 129,148,599 (GRCm39)	D37G	possibly damaging	Het
Iqcb1	T	A	16: 36,652,276 (GRCm39)	C62*	probably null	Het
Itgad	A	T	7: 127,785,405 (GRCm39)	T381S	probably damaging	Het
Itpkb	T	C	1: 180,161,260 (GRCm39)	V462A	probably benign	Het
Kalrn	T	A	16: 33,860,259 (GRCm39)	R199*	probably null	Het
Kif24	G	T	4: 41,395,064 (GRCm39)	A603D	probably damaging	Het
Kif26b	GAAA	GAA	1: 178,744,181 (GRCm39)		probably null	Het
Klrc3	A	G	6: 129,620,181 (GRCm39)	L24P	probably damaging	Het
Lmnb1	A	C	18: 56,861,598 (GRCm39)	D163A	probably benign	Het
Lrrc9	T	C	12: 72,529,765 (GRCm39)	L912P	probably damaging	Het
Mageh1	A	T	X: 151,820,004 (GRCm39)	W111R	probably damaging	Het
Mapk7	A	G	11: 61,380,680 (GRCm39)	S641P	possibly damaging	Het
Mapt	A	T	11: 104,177,961 (GRCm39)	Q38L	possibly damaging	Het
Med12	C	A	X: 100,339,498 (GRCm39)	P2037Q	possibly damaging	Het
Med22	A	G	2: 26,800,379 (GRCm39)	S17P	probably damaging	Het
Mep1b	C	T	18: 21,219,296 (GRCm39)	T150I	possibly damaging	Het
Mroh1	C	T	15: 76,285,819 (GRCm39)	T71I	probably benign	Het
Nap1l3	A	G	X: 121,305,995 (GRCm39)	V241A	possibly damaging	Het
Pcdhga6	A	T	18: 37,841,479 (GRCm39)	N400Y	probably damaging	Het
Pdgfd	T	C	9: 6,359,762 (GRCm39)	S278P	probably damaging	Het
Pgap1	A	G	1: 54,596,624 (GRCm39)	M39T	probably damaging	Het
Pgc	C	A	17: 48,040,236 (GRCm39)	F93L	probably null	Het
Phf14	A	G	6: 11,933,873 (GRCm39)		probably null	Het
Piezo2	A	G	18: 63,214,733 (GRCm39)		probably null	Het
Pja2	T	C	17: 64,616,397 (GRCm39)	D166G	probably benign	Het
Ppp1r12c	T	A	7: 4,485,785 (GRCm39)		probably benign	Het
Pus3	G	C	9: 35,477,874 (GRCm39)	G369R	probably benign	Het
Rhbdf2	T	A	11: 116,495,250 (GRCm39)	D251V	probably damaging	Het
Rsad1	A	G	11: 94,434,130 (GRCm39)	V366A	probably benign	Het
S100a10	T	C	3: 93,471,680 (GRCm39)	V88A	probably damaging	Het
Scarf1	T	C	11: 75,406,078 (GRCm39)	C121R	probably damaging	Het
Scn7a	A	G	2: 66,528,028 (GRCm39)	S821P	probably damaging	Het
Sco1	T	C	11: 66,944,605 (GRCm39)	V76A	probably damaging	Het
Sdsl	C	A	5: 120,601,183 (GRCm39)	A30S	probably benign	Het
Slit3	A	T	11: 35,579,509 (GRCm39)	S1229C	probably null	Het
Snd1	G	T	6: 28,531,403 (GRCm39)		probably benign	Het
Tdrd3	A	G	14: 87,718,221 (GRCm39)	T201A	probably damaging	Het
Tekt1	T	C	11: 72,245,645 (GRCm39)	N170S	probably benign	Het
Thsd1	T	G	8: 22,733,132 (GRCm39)	S60A	possibly damaging	Het
Tmem121b	C	T	6: 120,469,841 (GRCm39)	G292E	probably damaging	Het
Trim63	A	G	4: 134,048,507 (GRCm39)	N172S	probably benign	Het
Usp24	T	C	4: 106,219,209 (GRCm39)		probably null	Het
Zdhhc16	T	A	19: 41,926,553 (GRCm39)		probably null	Het
Zfp1010	T	C	2: 176,956,998 (GRCm39)	S167G	possibly damaging	Het
Zfp709	G	A	8: 72,642,906 (GRCm39)	V112M	probably benign	Het

Other mutations in Slc26a6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00467:Slc26a6	APN	9	108,733,088 (GRCm39)	missense	probably benign
IGL02447:Slc26a6	APN	9	108,734,251 (GRCm39)	missense	probably benign	0.03
IGL03090:Slc26a6	APN	9	108,737,890 (GRCm39)	missense	probably benign	0.06
R0018:Slc26a6	UTSW	9	108,736,121 (GRCm39)	splice site	probably null
R0083:Slc26a6	UTSW	9	108,736,312 (GRCm39)	splice site	probably null
R0133:Slc26a6	UTSW	9	108,738,522 (GRCm39)	missense	possibly damaging	0.86
R0135:Slc26a6	UTSW	9	108,737,794 (GRCm39)	splice site	probably benign
R0563:Slc26a6	UTSW	9	108,734,869 (GRCm39)	missense	probably damaging	1.00
R0661:Slc26a6	UTSW	9	108,736,312 (GRCm39)	splice site	probably null
R1513:Slc26a6	UTSW	9	108,733,035 (GRCm39)	missense	probably benign	0.41
R1746:Slc26a6	UTSW	9	108,738,916 (GRCm39)	missense	probably benign	0.00
R2079:Slc26a6	UTSW	9	108,736,257 (GRCm39)	missense	probably damaging	0.97
R2939:Slc26a6	UTSW	9	108,734,236 (GRCm39)	missense	probably benign	0.05
R2940:Slc26a6	UTSW	9	108,734,236 (GRCm39)	missense	probably benign	0.05
R3861:Slc26a6	UTSW	9	108,731,395 (GRCm39)	unclassified	probably benign
R4175:Slc26a6	UTSW	9	108,731,416 (GRCm39)	unclassified	probably benign
R4358:Slc26a6	UTSW	9	108,738,982 (GRCm39)	missense	probably benign	0.00
R4403:Slc26a6	UTSW	9	108,733,137 (GRCm39)	missense	probably benign
R4598:Slc26a6	UTSW	9	108,733,579 (GRCm39)	missense	probably damaging	1.00
R4660:Slc26a6	UTSW	9	108,738,540 (GRCm39)	missense	probably damaging	0.96
R4663:Slc26a6	UTSW	9	108,735,106 (GRCm39)	missense	probably damaging	0.98
R5296:Slc26a6	UTSW	9	108,737,845 (GRCm39)	missense	probably damaging	1.00
R5390:Slc26a6	UTSW	9	108,738,499 (GRCm39)	splice site	probably benign
R5533:Slc26a6	UTSW	9	108,735,155 (GRCm39)	missense	probably damaging	1.00
R5662:Slc26a6	UTSW	9	108,736,538 (GRCm39)	missense	possibly damaging	0.94
R5845:Slc26a6	UTSW	9	108,739,282 (GRCm39)	missense	possibly damaging	0.46
R6547:Slc26a6	UTSW	9	108,737,981 (GRCm39)	splice site	probably null
R7079:Slc26a6	UTSW	9	108,735,147 (GRCm39)	missense	probably damaging	1.00
R7652:Slc26a6	UTSW	9	108,733,143 (GRCm39)	critical splice donor site	probably null
R8289:Slc26a6	UTSW	9	108,733,230 (GRCm39)	missense	probably benign	0.00
R8290:Slc26a6	UTSW	9	108,733,230 (GRCm39)	missense	probably benign	0.00
R9533:Slc26a6	UTSW	9	108,735,481 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AAAACTCAGGTATGTGGCTCTGTG -3'
(R):5'- ATTCACGCACAGGATACCGG -3'

Sequencing Primer
(F):5'- CTCTGTGGTCCCAAGTAGAAG -3'
(R):5'- CGCACAGGATACCGGGGTAAC -3'

Posted On

2015-04-06