Mutagenetix > Incidental Mutation

Incidental Mutation 'R1513:Slc26a6'

168544

Institutional Source

Beutler Lab

Gene Symbol

Slc26a6

Ensembl Gene

ENSMUSG00000023259

Gene Name

solute carrier family 26, member 6

Synonyms

B930010B04Rik, CFEX, Pat1

MMRRC Submission

039560-MU

Accession Numbers

Essential gene?

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

Stock #

R1513 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

108731239-108742117 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108733035 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 5 (R5G)

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

probably benign
Transcript: ENSMUST00000098376
AA Change: R5G

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000095979
Gene: ENSMUSG00000023259
AA Change: R5G

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: R5G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000140849
Gene: ENSMUSG00000023259
AA Change: R5G

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: R5G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000141336
Gene: ENSMUSG00000023259
AA Change: R5G

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: R5G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000141632
Gene: ENSMUSG00000023259
AA Change: R5G

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: R5G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000142250
Gene: ENSMUSG00000023259
AA Change: R5G

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
AA Change: R5G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000141409
Gene: ENSMUSG00000023259
AA Change: R5G

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

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.7%
20x: 87.2%

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: 107 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500011B03Rik	A	T	5: 114,947,334 (GRCm39)	C64*	probably null	Het
1700003H04Rik	A	C	3: 124,368,985 (GRCm39)	Y109D	possibly damaging	Het
Abca15	A	T	7: 119,939,322 (GRCm39)	I239F	probably damaging	Het
Adgrv1	A	T	13: 81,705,076 (GRCm39)	I1578K	probably damaging	Het
Adgrv1	A	G	13: 81,741,167 (GRCm39)	V99A	probably damaging	Het
Ap4e1	G	T	2: 126,903,475 (GRCm39)	K792N	probably null	Het
Ap5b1	G	A	19: 5,619,892 (GRCm39)	W437*	probably null	Het
Arhgef17	A	G	7: 100,580,069 (GRCm39)	L293P	probably benign	Het
Arhgef33	A	C	17: 80,678,818 (GRCm39)	M505L	probably benign	Het
Arih1	T	A	9: 59,310,663 (GRCm39)	R320S	probably damaging	Het
Atp1b3	A	T	9: 96,246,206 (GRCm39)	M1K	probably null	Het
Bbs2	T	C	8: 94,816,472 (GRCm39)	D130G	possibly damaging	Het
Bscl2	G	A	19: 8,818,509 (GRCm39)	R38H	probably damaging	Het
Cad	A	G	5: 31,226,106 (GRCm39)	Y1102C	probably damaging	Het
Cc2d1b	G	A	4: 108,490,423 (GRCm39)	R825Q	probably damaging	Het
Ccdc39	A	G	3: 33,893,294 (GRCm39)	V97A	possibly damaging	Het
Ccr1	T	C	9: 123,764,510 (GRCm39)	T7A	probably benign	Het
Cd33	A	G	7: 43,181,618 (GRCm39)	S181P	probably damaging	Het
Cdc20	A	C	4: 118,290,304 (GRCm39)	S452R	probably damaging	Het
Cdk8	A	T	5: 146,233,188 (GRCm39)	I229F	possibly damaging	Het
Ces3a	A	T	8: 105,776,909 (GRCm39)	N131Y	probably damaging	Het
Cgnl1	A	G	9: 71,631,872 (GRCm39)	I493T	probably benign	Het
Chia1	G	A	3: 106,039,220 (GRCm39)	V437M	probably benign	Het
Chrna2	G	A	14: 66,380,878 (GRCm39)	R49H	probably benign	Het
Clec12b	A	G	6: 129,353,265 (GRCm39)	C241R	probably damaging	Het
Col11a1	A	G	3: 113,890,803 (GRCm39)	D380G	unknown	Het
Crebbp	A	G	16: 3,933,749 (GRCm39)	S948P	probably damaging	Het
Dchs1	G	A	7: 105,421,278 (GRCm39)	R381*	probably null	Het
Defb19	A	T	2: 152,418,085 (GRCm39)	*84R	probably null	Het
Dnah8	T	C	17: 30,892,862 (GRCm39)	F816L	probably benign	Het
Dync2h1	T	A	9: 7,103,663 (GRCm39)	I371F	possibly damaging	Het
Ezhip	GTCATCATCATCATC	GTCATCATCATCATCATC	X: 5,994,645 (GRCm39)		probably benign	Het
Fggy	T	C	4: 95,790,295 (GRCm39)		probably benign	Het
Galnt12	G	A	4: 47,117,956 (GRCm39)	C125Y	probably damaging	Het
Gm4952	A	T	19: 12,602,039 (GRCm39)	D149V	probably damaging	Het
Gm6309	A	T	5: 146,107,393 (GRCm39)	H37Q	possibly damaging	Het
Gmnn	A	G	13: 24,940,615 (GRCm39)	L78P	possibly damaging	Het
Golga4	C	A	9: 118,384,800 (GRCm39)	Q613K	probably benign	Het
Iqgap2	A	T	13: 95,766,518 (GRCm39)	I1495K	probably damaging	Het
Junb	T	C	8: 85,704,758 (GRCm39)	T101A	probably damaging	Het
Kif21b	T	C	1: 136,083,849 (GRCm39)	Y699H	probably damaging	Het
Klf17	T	C	4: 117,618,132 (GRCm39)	E75G	probably damaging	Het
Klra17	T	C	6: 129,849,277 (GRCm39)	E99G	possibly damaging	Het
Knop1	CTCTTCTTCTTCTTCTTCTTCTTC	CTCTTCTTCTTCTTCTTCTTC	7: 118,451,672 (GRCm39)		probably benign	Het
Krt87	C	T	15: 101,387,538 (GRCm39)	V167M	probably benign	Het
Lce1m	A	G	3: 92,925,932 (GRCm39)		probably benign	Het
Lpin3	A	T	2: 160,746,468 (GRCm39)	Y709F	probably damaging	Het
Ltbp2	T	A	12: 84,838,718 (GRCm39)	D1080V	probably damaging	Het
Mycbp2	G	A	14: 103,441,825 (GRCm39)	T1980I	probably damaging	Het
Myo1g	T	A	11: 6,465,140 (GRCm39)	K435M	probably damaging	Het
Mypn	T	A	10: 63,005,147 (GRCm39)	N320I	probably damaging	Het
Naip5	A	T	13: 100,358,714 (GRCm39)	W841R	probably benign	Het
Ncapd2	A	T	6: 125,147,955 (GRCm39)	M1124K	probably damaging	Het
Ncf4	A	G	15: 78,146,560 (GRCm39)	D330G	probably benign	Het
Ndst3	C	T	3: 123,395,104 (GRCm39)	V509M	possibly damaging	Het
Neb	A	T	2: 52,117,256 (GRCm39)	D4105E	probably damaging	Het
Nfix	G	A	8: 85,453,155 (GRCm39)	R300C	probably damaging	Het
Nsrp1	A	T	11: 76,937,445 (GRCm39)	F250L	probably benign	Het
Or11g7	A	G	14: 50,691,138 (GRCm39)	I210V	probably benign	Het
Or4l15	T	C	14: 50,198,558 (GRCm39)		probably null	Het
Or52d1	C	T	7: 103,755,671 (GRCm39)	L62F	probably benign	Het
Or52k2	G	T	7: 102,254,509 (GRCm39)	G316V	probably benign	Het
Or5m12	A	T	2: 85,735,015 (GRCm39)	Y128N	probably damaging	Het
Or8k3b	C	T	2: 86,521,141 (GRCm39)	M59I	possibly damaging	Het
Oxr1	A	G	15: 41,660,870 (GRCm39)	D67G	probably damaging	Het
P2ry12	A	T	3: 59,125,498 (GRCm39)	I59N	probably damaging	Het
Pcdhb12	G	T	18: 37,570,111 (GRCm39)	G419V	probably damaging	Het
Pdzd2	G	T	15: 12,373,915 (GRCm39)	S2073R	possibly damaging	Het
Pex5l	C	A	3: 33,069,162 (GRCm39)	E112*	probably null	Het
Plaur	A	G	7: 24,172,016 (GRCm39)	D163G	probably benign	Het
Plk2	A	G	13: 110,536,622 (GRCm39)	Y638C	probably benign	Het
Ppp1r15b	A	G	1: 133,061,088 (GRCm39)	N535S	probably benign	Het
Ppp2r1b	T	C	9: 50,781,445 (GRCm39)	L21P	probably damaging	Het
Prkar2a	G	A	9: 108,605,469 (GRCm39)	V176I	possibly damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rag1	A	G	2: 101,473,336 (GRCm39)	M602T	possibly damaging	Het
Rb1	A	G	14: 73,559,524 (GRCm39)	V60A	probably benign	Het
Rgs20	T	A	1: 4,982,560 (GRCm39)	I303F	probably damaging	Het
Rnf43	T	A	11: 87,620,257 (GRCm39)	I240N	probably damaging	Het
Romo1	G	A	2: 155,986,433 (GRCm39)	V19M	probably benign	Het
Ryr1	A	G	7: 28,770,046 (GRCm39)	S2676P	probably damaging	Het
Ryr3	G	A	2: 112,539,542 (GRCm39)	Q3233*	probably null	Het
Skic2	G	T	17: 35,066,420 (GRCm39)	P188T	probably damaging	Het
Slc33a1	A	G	3: 63,871,376 (GRCm39)	L79P	probably damaging	Het
Snx31	G	A	15: 36,545,745 (GRCm39)	R91C	probably damaging	Het
Tecpr2	T	C	12: 110,921,234 (GRCm39)	I1269T	possibly damaging	Het
Tjap1	G	T	17: 46,572,368 (GRCm39)	D89E	probably benign	Het
Tmem53	A	T	4: 117,123,090 (GRCm39)	Q39L	probably damaging	Het
Tmod1	G	T	4: 46,083,549 (GRCm39)	V95F	possibly damaging	Het
Trim30c	A	C	7: 104,031,896 (GRCm39)	H306Q	probably benign	Het
Trpm3	A	T	19: 22,964,236 (GRCm39)	M1244L	possibly damaging	Het
Tspan32	A	G	7: 142,558,886 (GRCm39)	I14V	probably null	Het
Ube4b	A	G	4: 149,436,035 (GRCm39)	V695A	probably benign	Het
Ubxn11	G	A	4: 133,851,452 (GRCm39)		probably null	Het
Ugt3a1	A	G	15: 9,361,610 (GRCm39)	I129V	probably benign	Het
Vmn1r45	A	G	6: 89,910,058 (GRCm39)	V304A	probably damaging	Het
Vmn2r124	A	T	17: 18,283,535 (GRCm39)	S410C	probably damaging	Het
Vmn2r15	T	A	5: 109,441,195 (GRCm39)	D221V	probably damaging	Het
Vmn2r79	G	A	7: 86,686,652 (GRCm39)	V678I	probably benign	Het
Vps13b	A	T	15: 35,438,876 (GRCm39)	R319*	probably null	Het
Wdr95	G	A	5: 149,522,759 (GRCm39)	R639Q	probably benign	Het
Xirp2	A	G	2: 67,341,874 (GRCm39)	I1372V	probably benign	Het
Xpo5	T	A	17: 46,537,906 (GRCm39)	M611K	probably benign	Het
Zfat	A	G	15: 68,084,529 (GRCm39)	C121R	probably damaging	Het
Zfp382	A	T	7: 29,832,721 (GRCm39)	Y124F	probably benign	Het
Zfp512b	A	G	2: 181,230,982 (GRCm39)	F371S	probably benign	Het
Zfy2	A	G	Y: 2,116,185 (GRCm39)	V285A	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
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'- AGCAGCCAAAGTTCAGATACTGCC -3'
(R):5'- AGGAGCCATTCACGCACAGGATAC -3'

Sequencing Primer
(F):5'- AAGTTCAGATACTGCCTCTGTCAG -3'
(R):5'- CACAGGATACCGGGGTAACC -3'

Posted On

2014-04-13