Mutagenetix > Incidental Mutation

Incidental Mutation 'R8290:Slc26a6'

638645

Institutional Source

Beutler Lab

Gene Symbol

Slc26a6

Ensembl Gene

ENSMUSG00000023259

Gene Name

solute carrier family 26, member 6

Synonyms

B930010B04Rik, CFEX, Pat1

MMRRC Submission

067712-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.117) question?

Stock #

R8290 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

108731239-108742117 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 108733230 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 43 (R43H)

Ref Sequence

ENSEMBL: ENSMUSP00000141336 (fasta)

Gene Model

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

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

probably benign
Transcript: ENSMUST00000098376
AA Change: R43H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000095979
Gene: ENSMUSG00000023259
AA Change: R43H

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: R43H

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000140849
Gene: ENSMUSG00000023259
AA Change: R43H

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: R43H

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000141336
Gene: ENSMUSG00000023259
AA Change: R43H

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: ENSMUST00000192559
AA Change: R43H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000141632
Gene: ENSMUSG00000023259
AA Change: R43H

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: R43H

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000142250
Gene: ENSMUSG00000023259
AA Change: R43H

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: ENSMUST00000193874
AA Change: R43H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000141409
Gene: ENSMUSG00000023259
AA Change: R43H

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	A	T	8: 87,238,911 (GRCm39)	Y1100N	probably damaging	Het
Abcf2	CAT	CATAAT	5: 24,781,589 (GRCm39)		probably benign	Het
Adgrv1	T	C	13: 81,630,002 (GRCm39)	T3576A	probably benign	Het
Adnp2	A	T	18: 80,185,948 (GRCm39)	N8K	probably damaging	Het
Aftph	A	T	11: 20,675,712 (GRCm39)	H632Q	probably benign	Het
Arhgef11	A	T	3: 87,633,275 (GRCm39)	I710F	probably damaging	Het
Atp6v1c2	T	C	12: 17,338,153 (GRCm39)	N341S	possibly damaging	Het
Ccsap	T	G	8: 124,585,986 (GRCm39)	D55A	probably benign	Het
Cdh17	A	G	4: 11,817,037 (GRCm39)	N816S	probably benign	Het
Celf3	A	G	3: 94,386,489 (GRCm39)	I26V	probably benign	Het
Celsr1	G	T	15: 85,917,286 (GRCm39)	S229*	probably null	Het
Chek2	A	G	5: 111,008,766 (GRCm39)	E299G	possibly damaging	Het
Clca3a2	A	G	3: 144,793,719 (GRCm39)	V312A	possibly damaging	Het
Cnn1	A	G	9: 22,012,447 (GRCm39)	K25R	probably benign	Het
Cry1	A	T	10: 84,978,977 (GRCm39)	Y516*	probably null	Het
Dcaf4	T	C	12: 83,588,333 (GRCm39)	S498P	probably benign	Het
Dmgdh	T	C	13: 93,843,244 (GRCm39)	V360A	probably benign	Het
Dnajc18	G	A	18: 35,816,324 (GRCm39)	R205*	probably null	Het
Eif4a2	G	T	16: 22,927,372 (GRCm39)	G22C	probably damaging	Het
Elmo2	A	G	2: 165,150,923 (GRCm39)	I196T	probably damaging	Het
Epha3	A	G	16: 63,472,859 (GRCm39)	I342T	possibly damaging	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Etf1	G	A	18: 35,064,891 (GRCm39)	P35L	unknown	Het
Etnk2	A	C	1: 133,307,127 (GRCm39)	*386C	probably null	Het
Fgg	A	T	3: 82,920,141 (GRCm39)	I307F	probably benign	Het
Flg2	A	G	3: 93,110,069 (GRCm39)	Q699R	unknown	Het
Foxp4	T	A	17: 48,191,778 (GRCm39)	T120S	unknown	Het
Fzd1	A	G	5: 4,807,060 (GRCm39)	V174A	possibly damaging	Het
Gad1	A	C	2: 70,404,610 (GRCm39)	I167L	probably benign	Het
Gfm2	T	A	13: 97,282,171 (GRCm39)	D55E	probably benign	Het
Grb14	G	T	2: 64,805,929 (GRCm39)	A12E	probably benign	Het
Hnmt	A	C	2: 23,893,896 (GRCm39)	Y199*	probably null	Het
Kit	A	G	5: 75,801,829 (GRCm39)	I615V	probably benign	Het
Kpna6	A	G	4: 129,555,097 (GRCm39)		probably null	Het
Lpxn	C	T	19: 12,810,052 (GRCm39)	R275C	probably damaging	Het
Magi1	C	T	6: 94,260,066 (GRCm39)	G80S	probably damaging	Het
Men1	A	G	19: 6,388,316 (GRCm39)	I312V	probably benign	Het
Msx2	A	G	13: 53,622,528 (GRCm39)	F161L	probably damaging	Het
Mtr	T	C	13: 12,205,139 (GRCm39)	D1107G	probably damaging	Het
Muc4	A	T	16: 32,575,434 (GRCm39)	M1397L	probably benign	Het
Mybpc3	A	G	2: 90,951,473 (GRCm39)	N259S	probably benign	Het
Myo5c	A	G	9: 75,196,178 (GRCm39)	K1242R	probably benign	Het
Myoc	T	C	1: 162,476,601 (GRCm39)	V435A	possibly damaging	Het
Nbea	G	A	3: 55,966,056 (GRCm39)	Q469*	probably null	Het
Ndufa10	A	C	1: 92,390,869 (GRCm39)	M227R	possibly damaging	Het
Obscn	C	T	11: 58,953,536 (GRCm39)	D3831N	probably damaging	Het
Obscn	T	C	11: 59,015,400 (GRCm39)	E1024G	probably damaging	Het
Oma1	T	C	4: 103,176,671 (GRCm39)	L145P	probably damaging	Het
Phf11	T	C	14: 59,485,418 (GRCm39)	Y114C	probably damaging	Het
Phf12	C	A	11: 77,920,465 (GRCm39)	N1000K	probably benign	Het
Plxnb1	G	T	9: 108,938,687 (GRCm39)	A1350S	probably benign	Het
Prkd1	C	T	12: 50,388,799 (GRCm39)	V915I	probably damaging	Het
Prkra	T	A	2: 76,463,982 (GRCm39)	N227Y	probably damaging	Het
Prtg	A	T	9: 72,798,077 (GRCm39)	H681L	probably damaging	Het
Rtn1	T	C	12: 72,355,193 (GRCm39)	K251R	probably benign	Het
Sema6b	A	T	17: 56,431,803 (GRCm39)	V620E	possibly damaging	Het
Senp7	T	A	16: 55,974,000 (GRCm39)	L407*	probably null	Het
Sh3pxd2a	A	T	19: 47,302,575 (GRCm39)	L168Q	probably damaging	Het
Shtn1	A	G	19: 58,988,326 (GRCm39)	L453P	probably damaging	Het
Stac3	T	C	10: 127,339,229 (GRCm39)		probably null	Het
Taf2	A	G	15: 54,926,416 (GRCm39)	F178S	probably damaging	Het
Tcp10a	G	A	17: 7,601,716 (GRCm39)	E239K	probably benign	Het
Ubox5	A	G	2: 130,442,333 (GRCm39)	V118A	probably damaging	Het
Unc13d	C	A	11: 115,958,973 (GRCm39)	L729F	probably damaging	Het
Vmn1r228	T	C	17: 20,996,724 (GRCm39)	T265A	probably benign	Het
Vmn2r100	G	A	17: 19,751,612 (GRCm39)	V615I	probably damaging	Het
Vmn2r60	T	G	7: 41,791,690 (GRCm39)	C538G	probably damaging	Het
Vmn2r93	A	T	17: 18,524,291 (GRCm39)	N95I	probably damaging	Het
Vsig2	A	G	9: 37,451,264 (GRCm39)	N55S	probably benign	Het
Zfp472	A	G	17: 33,197,088 (GRCm39)	T388A	probably benign	Het
Zfp853	G	A	5: 143,274,826 (GRCm39)	Q214*	probably null	Het
Zfp949	A	G	9: 88,451,293 (GRCm39)	R288G	probably damaging	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
R3833:Slc26a6	UTSW	9	108,733,117 (GRCm39)	missense	possibly damaging	0.86
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
R9533:Slc26a6	UTSW	9	108,735,481 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GAGACTACCATGTGGAAAGGCC -3'
(R):5'- AGAGCAGAGGTCTTGGCTTC -3'

Sequencing Primer
(F):5'- AGGCCATTGCTGAACCAG -3'
(R):5'- TGGTTTGACACTTCACAGACCAC -3'

Posted On

2020-07-28