Incidental Mutation 'R0018:Slc26a6'
ID |
8370 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc26a6
|
Ensembl Gene |
ENSMUSG00000023259 |
Gene Name |
solute carrier family 26, member 6 |
Synonyms |
B930010B04Rik, CFEX, Pat1 |
MMRRC Submission |
038313-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.117)
|
Stock # |
R0018 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
108731239-108742117 bp(+) (GRCm39) |
Type of Mutation |
splice site (3 bp from exon) |
DNA Base Change (assembly) |
G to T
at 108736121 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142250
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098376]
[ENSMUST00000188557]
[ENSMUST00000192507]
[ENSMUST00000192559]
[ENSMUST00000193291]
[ENSMUST00000193874]
|
AlphaFold |
Q8CIW6 |
Predicted Effect |
probably null
Transcript: ENSMUST00000098376
|
SMART Domains |
Protein: ENSMUSP00000095979 Gene: ENSMUSG00000023259
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 null
Transcript: ENSMUST00000188557
|
SMART Domains |
Protein: ENSMUSP00000140849 Gene: ENSMUSG00000023259
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 null
Transcript: ENSMUST00000192507
|
SMART Domains |
Protein: ENSMUSP00000141336 Gene: ENSMUSG00000023259
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 null
Transcript: ENSMUST00000193291
|
SMART Domains |
Protein: ENSMUSP00000142250 Gene: ENSMUSG00000023259
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 |
noncoding transcript
Transcript: ENSMUST00000195646
|
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: ENSMUST00000193825
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 82.8%
- 3x: 76.3%
- 10x: 59.3%
- 20x: 41.5%
|
Validation Efficiency |
90% (80/89) |
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp2b4 |
T |
A |
1: 133,645,609 (GRCm39) |
I982F |
probably damaging |
Het |
BC024139 |
G |
A |
15: 76,005,087 (GRCm39) |
Q592* |
probably null |
Het |
Capn7 |
T |
A |
14: 31,076,069 (GRCm39) |
C290* |
probably null |
Het |
Celsr1 |
T |
A |
15: 85,915,243 (GRCm39) |
D910V |
possibly damaging |
Het |
Cpne2 |
T |
A |
8: 95,282,681 (GRCm39) |
C59S |
possibly damaging |
Het |
Cyp2b13 |
G |
A |
7: 25,785,375 (GRCm39) |
R248H |
probably benign |
Het |
Dennd1a |
T |
A |
2: 37,748,472 (GRCm39) |
T336S |
possibly damaging |
Het |
Drc7 |
A |
G |
8: 95,800,862 (GRCm39) |
Y628C |
probably damaging |
Het |
Dse |
A |
G |
10: 34,029,464 (GRCm39) |
V542A |
probably benign |
Het |
Gria4 |
A |
G |
9: 4,432,843 (GRCm39) |
L780P |
possibly damaging |
Het |
Gsx2 |
A |
G |
5: 75,237,828 (GRCm39) |
K260R |
probably damaging |
Het |
Kat6a |
A |
G |
8: 23,419,289 (GRCm39) |
D684G |
possibly damaging |
Het |
Kif27 |
T |
G |
13: 58,435,867 (GRCm39) |
I1309L |
probably benign |
Het |
Me2 |
A |
T |
18: 73,924,923 (GRCm39) |
F265I |
possibly damaging |
Het |
Myo9a |
A |
T |
9: 59,779,007 (GRCm39) |
T1588S |
probably benign |
Het |
Neu4 |
T |
A |
1: 93,953,060 (GRCm39) |
D476E |
probably benign |
Het |
Nlrp9c |
T |
A |
7: 26,071,423 (GRCm39) |
Q895L |
possibly damaging |
Het |
Nudt8 |
C |
T |
19: 4,051,152 (GRCm39) |
|
probably benign |
Het |
Ppfia2 |
A |
G |
10: 106,678,647 (GRCm39) |
|
probably benign |
Het |
Prkdc |
T |
C |
16: 15,544,406 (GRCm39) |
Y1799H |
probably benign |
Het |
Psmc1 |
T |
C |
12: 100,082,951 (GRCm39) |
|
probably benign |
Het |
Pus3 |
A |
G |
9: 35,477,920 (GRCm39) |
D384G |
probably benign |
Het |
Rasa2 |
A |
G |
9: 96,454,016 (GRCm39) |
S307P |
probably damaging |
Het |
Rbpms2 |
A |
G |
9: 65,558,360 (GRCm39) |
D142G |
probably damaging |
Het |
Slc13a5 |
T |
C |
11: 72,157,301 (GRCm39) |
I31V |
probably benign |
Het |
Slc15a4 |
A |
T |
5: 127,679,074 (GRCm39) |
I422N |
probably damaging |
Het |
Ufm1 |
A |
T |
3: 53,766,617 (GRCm39) |
I79N |
probably benign |
Het |
Xdh |
C |
T |
17: 74,232,020 (GRCm39) |
R230H |
probably benign |
Het |
Zfp418 |
A |
T |
7: 7,185,449 (GRCm39) |
S471C |
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 |
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 |
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 |
|
Posted On |
2012-11-27 |