Mutagenetix > Incidental Mutation

Incidental Mutation 'R5296:Slc26a6'

405424

Institutional Source

Beutler Lab

Gene Symbol

Slc26a6

Ensembl Gene

ENSMUSG00000023259

Gene Name

solute carrier family 26, member 6

Synonyms

Pat1, B930010B04Rik, CFEX

MMRRC Submission

042879-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.139) question?

Stock #

R5296 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108853283-108913049 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 108860646 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 526 (T526M)

Ref Sequence

ENSEMBL: ENSMUSP00000095979 (fasta)

Gene Model

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

AlphaFold

Q8CIW6

Predicted Effect

probably damaging
Transcript: ENSMUST00000098376
AA Change: T526M

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

SMART Domains

Protein: ENSMUSP00000095979
Gene: ENSMUSG00000023259
AA Change: T526M

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 damaging
Transcript: ENSMUST00000188557
AA Change: T526M

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000140849
Gene: ENSMUSG00000023259
AA Change: T526M

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 damaging
Transcript: ENSMUST00000192507
AA Change: T526M

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000141336
Gene: ENSMUSG00000023259
AA Change: T526M

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

probably damaging
Transcript: ENSMUST00000193291
AA Change: T526M

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000142250
Gene: ENSMUSG00000023259
AA Change: T526M

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

0.6467

Coding Region Coverage

1x: 99.5%
3x: 98.9%
10x: 97.9%
20x: 96.6%

Validation Efficiency

100% (65/65)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apobr	A	C	7: 126,588,024	D89A	probably damaging	Het
Bhlhe41	C	T	6: 145,862,968		probably benign	Het
Cacna1s	G	A	1: 136,095,785	V674M	probably benign	Het
Cavin2	T	C	1: 51,289,870		probably null	Het
Cd300lb	T	C	11: 114,924,937	S106G	possibly damaging	Het
Ceacam15	A	G	7: 16,673,196	V132A	probably benign	Het
Ddi2	G	T	4: 141,684,765	Q279K	probably benign	Het
Dnah11	A	G	12: 117,883,416	V4304A	probably damaging	Het
Dnah2	C	T	11: 69,458,920	R2399Q	probably benign	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Het
Epsti1	T	A	14: 77,904,650	H55Q	probably benign	Het
Flad1	T	C	3: 89,411,196	T17A	probably damaging	Het
Fzd2	C	T	11: 102,606,155	T475M	probably damaging	Het
Gemin5	C	A	11: 58,130,061	W1099L	probably damaging	Het
Gm8979	A	T	7: 106,081,848		noncoding transcript	Het
Gm9892	T	C	8: 52,196,929		noncoding transcript	Het
Gmeb2	A	G	2: 181,255,986		probably benign	Het
Grip1	A	G	10: 119,929,928	E55G	probably damaging	Het
Hltf	T	C	3: 20,108,112	S825P	probably damaging	Het
Kcnh3	A	T	15: 99,241,939	Q902L	probably null	Het
Kcnt2	C	T	1: 140,609,615	P1037L	probably damaging	Het
Klhl18	G	C	9: 110,436,127	N335K	possibly damaging	Het
Lama5	A	C	2: 180,193,801	L1253R	probably damaging	Het
Lancl2	T	G	6: 57,724,582	S230A	probably benign	Het
Lmcd1	A	G	6: 112,315,588	M134V	probably damaging	Het
Lrrc23	C	A	6: 124,774,482	A205S	probably damaging	Het
Mfsd13b	T	A	7: 120,991,738	I234N	probably damaging	Het
Mroh3	A	G	1: 136,196,323	S386P	probably damaging	Het
Mylk3	A	C	8: 85,355,431	F313V	possibly damaging	Het
Myo9b	A	T	8: 71,333,388	Q643L	possibly damaging	Het
Nacad	T	C	11: 6,605,745	S2G	unknown	Het
Olfr1269	A	T	2: 90,118,699	W300R	probably damaging	Het
Olfr136	C	T	17: 38,335,456	Q100*	probably null	Het
Olfr419	G	T	1: 174,250,756	T57K	possibly damaging	Het
Olfr908	T	C	9: 38,516,116	F28S	probably damaging	Het
Pkd1	T	C	17: 24,576,074	V2245A	probably damaging	Het
Pkdrej	G	A	15: 85,817,118	T1539I	possibly damaging	Het
Plch2	G	T	4: 154,989,999		probably null	Het
Pygm	G	A	19: 6,384,579	R34H	probably damaging	Het
Rgs12	T	C	5: 35,021,104		probably benign	Het
Ruvbl1	T	C	6: 88,485,908	I338T	probably damaging	Het
Sapcd1	T	A	17: 35,026,731	Q104L	probably damaging	Het
Satb2	T	C	1: 56,796,907	E575G	probably damaging	Het
Sema6b	T	A	17: 56,127,091		probably null	Het
Slc25a11	T	C	11: 70,646,185	N15D	probably damaging	Het
Tcaf3	G	T	6: 42,587,510	T906K	possibly damaging	Het
Thbd	A	T	2: 148,406,983	C322S	probably damaging	Het
Traf2	A	G	2: 25,520,440	L399P	probably damaging	Het
Troap	T	A	15: 99,078,817	V274D	probably damaging	Het
Utrn	G	A	10: 12,401,355	T3406M	probably damaging	Het
Uts2	G	T	4: 150,999,051	A40S	possibly damaging	Het
Vmn2r109	T	A	17: 20,554,341	I251F	possibly damaging	Het
Vmn2r67	A	G	7: 85,137,022	S592P	probably damaging	Het
Vps13b	T	G	15: 35,876,413	W2797G	probably damaging	Het
Ythdf1	A	T	2: 180,912,188	M51K	probably damaging	Het
Zfp60	T	A	7: 27,738,530		probably benign	Het
Zfp882	T	A	8: 71,914,360	F344I	probably damaging	Het

Other mutations in Slc26a6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00467:Slc26a6	APN	9	108855889	missense	probably benign
IGL02447:Slc26a6	APN	9	108857052	missense	probably benign	0.03
IGL03090:Slc26a6	APN	9	108860691	missense	probably benign	0.06
R0018:Slc26a6	UTSW	9	108858922	splice site	probably null
R0083:Slc26a6	UTSW	9	108859113	splice site	probably null
R0133:Slc26a6	UTSW	9	108861323	missense	possibly damaging	0.86
R0135:Slc26a6	UTSW	9	108860595	splice site	probably benign
R0563:Slc26a6	UTSW	9	108857670	missense	probably damaging	1.00
R0661:Slc26a6	UTSW	9	108859113	splice site	probably null
R1513:Slc26a6	UTSW	9	108855836	missense	probably benign	0.41
R1746:Slc26a6	UTSW	9	108861717	missense	probably benign	0.00
R2079:Slc26a6	UTSW	9	108859058	missense	probably damaging	0.97
R2939:Slc26a6	UTSW	9	108857037	missense	probably benign	0.05
R2940:Slc26a6	UTSW	9	108857037	missense	probably benign	0.05
R3833:Slc26a6	UTSW	9	108855918	missense	possibly damaging	0.86
R3861:Slc26a6	UTSW	9	108854196	unclassified	probably benign
R4175:Slc26a6	UTSW	9	108854217	unclassified	probably benign
R4358:Slc26a6	UTSW	9	108861783	missense	probably benign	0.00
R4403:Slc26a6	UTSW	9	108855938	missense	probably benign
R4598:Slc26a6	UTSW	9	108856380	missense	probably damaging	1.00
R4660:Slc26a6	UTSW	9	108861341	missense	probably damaging	0.96
R4663:Slc26a6	UTSW	9	108857907	missense	probably damaging	0.98
R5390:Slc26a6	UTSW	9	108861300	splice site	probably benign
R5533:Slc26a6	UTSW	9	108857956	missense	probably damaging	1.00
R5662:Slc26a6	UTSW	9	108859339	missense	possibly damaging	0.94
R5845:Slc26a6	UTSW	9	108862083	missense	possibly damaging	0.46
R6547:Slc26a6	UTSW	9	108860782	splice site	probably null
R7079:Slc26a6	UTSW	9	108857948	missense	probably damaging	1.00
R7652:Slc26a6	UTSW	9	108855944	critical splice donor site	probably null
R8289:Slc26a6	UTSW	9	108856031	missense	probably benign	0.00
R8290:Slc26a6	UTSW	9	108856031	missense	probably benign	0.00
R9533:Slc26a6	UTSW	9	108858282	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- ACTTTCGTAACACGGGGAGC -3'
(R):5'- TGATGAGGCGGTCAACATC -3'

Sequencing Primer
(F):5'- AGATGCAGCCAGGCTTAC -3'
(R):5'- TGATGAGGCGGTCAACATCTACAC -3'

Posted On

2016-07-22