Incidental Mutation 'IGL00467:Slc26a6'
ID |
332427 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Slc26a6
|
Ensembl Gene |
ENSMUSG00000023259 |
Gene Name |
solute carrier family 26, member 6 |
Synonyms |
B930010B04Rik, CFEX, Pat1 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.117)
|
Stock # |
IGL00467
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
108731239-108742117 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 108733088 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 22
(D22E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141409
(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: D22E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000095979 Gene: ENSMUSG00000023259 AA Change: D22E
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: D22E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000140849 Gene: ENSMUSG00000023259 AA Change: D22E
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: D22E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000141336 Gene: ENSMUSG00000023259 AA Change: D22E
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: D22E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000141632 Gene: ENSMUSG00000023259 AA Change: D22E
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: D22E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000142250 Gene: ENSMUSG00000023259 AA Change: D22E
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: D22E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000141409 Gene: ENSMUSG00000023259 AA Change: D22E
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 |
|
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
T |
C |
11: 110,036,496 (GRCm39) |
|
probably benign |
Het |
Acvrl1 |
C |
A |
15: 101,041,221 (GRCm39) |
|
probably null |
Het |
Ahnak |
T |
A |
19: 8,984,587 (GRCm39) |
M1957K |
probably damaging |
Het |
Brinp3 |
A |
G |
1: 146,777,512 (GRCm39) |
D653G |
probably damaging |
Het |
Dcstamp |
T |
A |
15: 39,617,812 (GRCm39) |
C74S |
probably benign |
Het |
Esrrg |
A |
G |
1: 187,943,107 (GRCm39) |
E360G |
probably damaging |
Het |
Fam13a |
C |
T |
6: 58,917,098 (GRCm39) |
|
probably benign |
Het |
Glipr1l1 |
A |
G |
10: 111,914,286 (GRCm39) |
T216A |
probably benign |
Het |
Lama2 |
T |
A |
10: 27,343,193 (GRCm39) |
|
probably benign |
Het |
Men1 |
G |
A |
19: 6,387,237 (GRCm39) |
|
probably null |
Het |
Mta3 |
T |
A |
17: 84,063,113 (GRCm39) |
|
probably benign |
Het |
Nfu1 |
A |
G |
6: 86,997,755 (GRCm39) |
M213V |
possibly damaging |
Het |
Pam |
A |
T |
1: 97,852,152 (GRCm39) |
|
probably benign |
Het |
Pcca |
A |
T |
14: 122,820,041 (GRCm39) |
M62L |
probably benign |
Het |
Phf6 |
A |
G |
X: 52,020,523 (GRCm39) |
Y25C |
probably damaging |
Het |
Phlpp2 |
C |
T |
8: 110,652,422 (GRCm39) |
H589Y |
probably benign |
Het |
Ppp1r13b |
A |
G |
12: 111,795,804 (GRCm39) |
I956T |
probably damaging |
Het |
Prkcd |
G |
A |
14: 30,324,379 (GRCm39) |
|
probably benign |
Het |
Rapgef4 |
A |
T |
2: 72,086,656 (GRCm39) |
N973I |
possibly damaging |
Het |
Rnf20 |
G |
T |
4: 49,655,480 (GRCm39) |
E905* |
probably null |
Het |
Sp2 |
C |
T |
11: 96,845,387 (GRCm39) |
R578H |
probably damaging |
Het |
Taf6l |
A |
T |
19: 8,760,752 (GRCm39) |
N57K |
probably benign |
Het |
Tas2r109 |
C |
A |
6: 132,956,986 (GRCm39) |
V315L |
probably benign |
Het |
Tasor |
A |
G |
14: 27,170,121 (GRCm39) |
N350S |
probably benign |
Het |
Tex9 |
T |
C |
9: 72,385,117 (GRCm39) |
T240A |
probably benign |
Het |
Trank1 |
G |
A |
9: 111,193,734 (GRCm39) |
|
probably benign |
Het |
Trim30c |
A |
T |
7: 104,031,389 (GRCm39) |
Y475* |
probably null |
Het |
Trim60 |
T |
C |
8: 65,453,371 (GRCm39) |
T293A |
possibly damaging |
Het |
Ttc21b |
T |
C |
2: 66,018,708 (GRCm39) |
Y1233C |
probably damaging |
Het |
Wdr75 |
A |
G |
1: 45,841,235 (GRCm39) |
I106V |
probably benign |
Het |
Zkscan16 |
T |
C |
4: 58,957,709 (GRCm39) |
S664P |
possibly damaging |
Het |
|
Other mutations in Slc26a6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2015-08-05 |