Mutagenetix > Incidental Mutation

Incidental Mutation 'R0133:Slc26a6'

21762

Institutional Source

Beutler Lab

Gene Symbol

Slc26a6

Ensembl Gene

ENSMUSG00000023259

Gene Name

solute carrier family 26, member 6

Synonyms

B930010B04Rik, CFEX, Pat1

MMRRC Submission

038418-MU

Accession Numbers

Essential gene?

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

Stock #

R0133 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

108731239-108742117 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108738522 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 586 (V586A)

Ref Sequence

ENSEMBL: ENSMUSP00000095979 (fasta)

Gene Model

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

AlphaFold

Q8CIW6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098376
AA Change: V586A

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000095979
Gene: ENSMUSG00000023259
AA Change: V586A

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

possibly damaging
Transcript: ENSMUST00000188557
AA Change: V586A

PolyPhen 2 Score 0.727 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000140849
Gene: ENSMUSG00000023259
AA Change: V586A

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: ENSMUST00000192507
AA Change: V586A

PolyPhen 2 Score 0.727 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000141336
Gene: ENSMUSG00000023259
AA Change: V586A

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

SMART Domains

Protein: ENSMUSP00000141632
Gene: ENSMUSG00000023259

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

possibly damaging
Transcript: ENSMUST00000193291
AA Change: V586A

PolyPhen 2 Score 0.727 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000142250
Gene: ENSMUSG00000023259
AA Change: V586A

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

probably benign
Transcript: ENSMUST00000193874

SMART Domains

Protein: ENSMUSP00000141409
Gene: ENSMUSG00000023259

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

Meta Mutation Damage Score

0.1039

Coding Region Coverage

1x: 98.8%
3x: 97.9%
10x: 95.2%
20x: 89.4%

Validation Efficiency

99% (83/84)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd4	T	C	11: 102,996,214 (GRCm39)	S172P	probably damaging	Het
Akap6	A	T	12: 53,186,254 (GRCm39)	K1223*	probably null	Het
Akna	G	A	4: 63,297,598 (GRCm39)	Q819*	probably null	Het
Ankrd2	T	C	19: 42,032,510 (GRCm39)	V257A	probably benign	Het
Arap1	T	A	7: 101,035,436 (GRCm39)	D30E	probably damaging	Het
Atp6v0d2	T	C	4: 19,910,578 (GRCm39)		probably benign	Het
Blm	T	A	7: 80,152,115 (GRCm39)	I611F	possibly damaging	Het
Ccng2	A	G	5: 93,421,240 (GRCm39)	K250R	probably benign	Het
Cdhr3	A	G	12: 33,142,751 (GRCm39)	L8P	possibly damaging	Het
Csf2rb	T	G	15: 78,223,204 (GRCm39)		probably benign	Het
Ctbs	A	G	3: 146,163,223 (GRCm39)	I204V	probably benign	Het
Cxcl16	T	A	11: 70,349,596 (GRCm39)	E76D	possibly damaging	Het
Dhx15	T	C	5: 52,311,414 (GRCm39)	I689V	possibly damaging	Het
Dlk2	T	C	17: 46,609,868 (GRCm39)		probably benign	Het
Dnah2	A	T	11: 69,311,835 (GRCm39)	M4452K	probably damaging	Het
Dok4	T	A	8: 95,591,991 (GRCm39)	I280F	probably benign	Het
Dsc3	T	C	18: 20,104,639 (GRCm39)	T563A	probably damaging	Het
Dsg1b	C	T	18: 20,537,935 (GRCm39)	A617V	probably damaging	Het
Eps8l2	C	T	7: 140,942,120 (GRCm39)	P721S	unknown	Het
Evx2	T	C	2: 74,489,426 (GRCm39)	D112G	possibly damaging	Het
Fam124a	C	A	14: 62,843,782 (GRCm39)	T430K	possibly damaging	Het
Fbrs	C	T	7: 127,088,782 (GRCm39)		probably benign	Het
Fbxw14	T	C	9: 109,103,647 (GRCm39)	T22A	probably benign	Het
Fmo5	T	G	3: 97,552,952 (GRCm39)	V300G	probably damaging	Het
Gadl1	T	C	9: 115,770,411 (GRCm39)	S75P	probably benign	Het
Galnt2	T	G	8: 125,065,277 (GRCm39)	I469S	probably benign	Het
Gga3	T	A	11: 115,479,805 (GRCm39)		probably benign	Het
Gm10647	T	C	9: 66,705,771 (GRCm39)		probably benign	Het
Gm14180	C	A	11: 99,625,043 (GRCm39)	C25F	unknown	Het
Grid2	A	T	6: 64,297,116 (GRCm39)	D493V	probably damaging	Het
Gzmc	T	A	14: 56,469,754 (GRCm39)	Y182F	possibly damaging	Het
Hecw2	A	C	1: 53,869,899 (GRCm39)	L1443R	probably damaging	Het
Igkv4-62	A	G	6: 69,377,053 (GRCm39)	I32T	probably benign	Het
Ikzf1	T	A	11: 11,691,015 (GRCm39)		probably null	Het
Il27ra	G	A	8: 84,760,571 (GRCm39)		probably benign	Het
Jmjd1c	C	A	10: 67,076,587 (GRCm39)	A2137D	probably benign	Het
Kcnc2	T	C	10: 112,294,502 (GRCm39)	C579R	probably damaging	Het
Kdr	T	C	5: 76,112,498 (GRCm39)	T862A	probably damaging	Het
Kif17	T	C	4: 138,005,556 (GRCm39)	S182P	possibly damaging	Het
Klf5	A	T	14: 99,539,318 (GRCm39)	T164S	probably benign	Het
Ksr2	T	G	5: 117,693,359 (GRCm39)	V269G	possibly damaging	Het
Mcm5	T	A	8: 75,847,539 (GRCm39)	D445E	probably damaging	Het
Mlkl	T	C	8: 112,054,580 (GRCm39)	I186V	probably damaging	Het
Muc4	A	T	16: 32,591,978 (GRCm39)	S3017C	possibly damaging	Het
Myo15a	T	C	11: 60,368,676 (GRCm39)	F479L	possibly damaging	Het
Myo6	A	G	9: 80,181,257 (GRCm39)		probably benign	Het
Myom1	T	A	17: 71,354,782 (GRCm39)	V393E	probably damaging	Het
Nup98	T	A	7: 101,788,859 (GRCm39)		probably null	Het
Odf2l	A	G	3: 144,854,302 (GRCm39)	N383S	probably damaging	Het
Olfml3	A	C	3: 103,644,342 (GRCm39)		probably null	Het
Or10q1	T	A	19: 13,727,352 (GRCm39)	I294N	probably damaging	Het
Or7g17	G	A	9: 18,767,925 (GRCm39)	M1I	probably null	Het
Or8g18	A	G	9: 39,149,307 (GRCm39)	Y141H	probably benign	Het
Or8j3b	A	T	2: 86,205,159 (GRCm39)	V199E	possibly damaging	Het
Plxna4	A	T	6: 32,174,009 (GRCm39)	D1195E	probably benign	Het
Ppp1r1a	T	A	15: 103,446,247 (GRCm39)	H20L	probably damaging	Het
Prdm4	A	G	10: 85,746,085 (GRCm39)		probably null	Het
Prom2	A	G	2: 127,380,258 (GRCm39)		probably benign	Het
Rasal3	T	C	17: 32,622,357 (GRCm39)	M1V	probably null	Het
Rhoj	A	G	12: 75,441,194 (GRCm39)		probably null	Het
Rnf40	C	T	7: 127,196,032 (GRCm39)		probably null	Het
Slc15a3	T	C	19: 10,820,614 (GRCm39)	L77P	probably damaging	Het
Slc30a10	T	A	1: 185,187,370 (GRCm39)	L37Q	probably damaging	Het
Slc43a2	T	A	11: 75,454,403 (GRCm39)	M316K	probably benign	Het
Smarcal1	T	C	1: 72,672,010 (GRCm39)	F844L	probably benign	Het
Snx19	A	G	9: 30,339,912 (GRCm39)	E350G	possibly damaging	Het
Tecta	T	A	9: 42,278,524 (GRCm39)	T995S	probably benign	Het
Tmc3	T	G	7: 83,261,681 (GRCm39)	N586K	probably damaging	Het
Tmem107	T	A	11: 68,963,239 (GRCm39)		probably benign	Het
Tmem247	A	G	17: 87,225,989 (GRCm39)	Q51R	probably benign	Het
Tmpo	G	T	10: 90,999,900 (GRCm39)		probably benign	Het
Ubr5	T	A	15: 37,996,815 (GRCm39)	T1894S	probably damaging	Het
Vmn2r92	C	T	17: 18,388,219 (GRCm39)	A408V	probably damaging	Het
Xirp2	T	A	2: 67,347,468 (GRCm39)	H3236Q	probably benign	Het
Zfand4	G	A	6: 116,291,700 (GRCm39)	D545N	probably benign	Het
Zkscan3	G	T	13: 21,578,944 (GRCm39)	P155T	possibly 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
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
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'- GGCACGTCCCATTCACTGTTAGAAC -3'
(R):5'- AAGGGCCAGAGGAGAACTCACTATC -3'

Sequencing Primer
(F):5'- ACTGTTAGAACTTCCTCTCAGGC -3'
(R):5'- TATCACAAAGGTCTCCCTGC -3'

Posted On

2013-04-12