Incidental Mutation 'IGL03090:Slc26a6'
| ID |
418342 |
| 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 # |
IGL03090
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
108731239-108742117 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 108737890 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 541
(E541G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095979
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098376]
[ENSMUST00000188557]
[ENSMUST00000192507]
[ENSMUST00000192559]
[ENSMUST00000193291]
[ENSMUST00000193874]
|
| AlphaFold |
Q8CIW6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098376
AA Change: E541G
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000095979
Gene: ENSMUSG00000023259
AA Change: E541G
| 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: E541G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000140849
Gene: ENSMUSG00000023259
AA Change: E541G
| 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: E541G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000141336
Gene: ENSMUSG00000023259
AA Change: E541G
| 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 benign
Transcript: ENSMUST00000193291
AA Change: E541G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000142250
Gene: ENSMUSG00000023259
AA Change: E541G
| 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
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam20 |
A |
G |
8: 41,247,965 (GRCm39) |
Y25C |
probably benign |
Het |
| Agap3 |
A |
C |
5: 24,706,204 (GRCm39) |
T823P |
possibly damaging |
Het |
| Arap3 |
T |
C |
18: 38,122,165 (GRCm39) |
E641G |
probably benign |
Het |
| Armc6 |
C |
T |
8: 70,684,004 (GRCm39) |
R16Q |
probably benign |
Het |
| Asb15 |
T |
A |
6: 24,567,185 (GRCm39) |
I502K |
possibly damaging |
Het |
| Atp8b3 |
T |
A |
10: 80,366,438 (GRCm39) |
N275I |
probably damaging |
Het |
| Calr |
G |
A |
8: 85,573,373 (GRCm39) |
P19S |
possibly damaging |
Het |
| Cdc6 |
T |
A |
11: 98,810,122 (GRCm39) |
L477* |
probably null |
Het |
| Clba1 |
T |
C |
12: 112,779,340 (GRCm39) |
|
probably null |
Het |
| Cnnm4 |
A |
G |
1: 36,510,952 (GRCm39) |
D60G |
probably benign |
Het |
| Col12a1 |
G |
T |
9: 79,585,652 (GRCm39) |
Q1242K |
probably damaging |
Het |
| Dusp18 |
T |
A |
11: 3,847,466 (GRCm39) |
I152N |
probably damaging |
Het |
| Eef1akmt1 |
T |
C |
14: 57,795,543 (GRCm39) |
T69A |
probably damaging |
Het |
| Efhb |
T |
C |
17: 53,769,958 (GRCm39) |
Q117R |
probably benign |
Het |
| Fancd2 |
T |
A |
6: 113,514,558 (GRCm39) |
|
probably null |
Het |
| Fat3 |
C |
T |
9: 16,288,535 (GRCm39) |
W329* |
probably null |
Het |
| Frem3 |
A |
G |
8: 81,344,858 (GRCm39) |
Y1727C |
probably benign |
Het |
| Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
| Gatb |
C |
A |
3: 85,526,330 (GRCm39) |
|
probably benign |
Het |
| Gpr33 |
A |
T |
12: 52,070,809 (GRCm39) |
S77T |
probably damaging |
Het |
| Gramd1c |
A |
T |
16: 43,802,463 (GRCm39) |
D649E |
probably benign |
Het |
| Herc2 |
T |
A |
7: 55,854,221 (GRCm39) |
L3745H |
probably damaging |
Het |
| Klk1b11 |
T |
A |
7: 43,426,977 (GRCm39) |
M87K |
probably benign |
Het |
| Krt39 |
T |
G |
11: 99,409,833 (GRCm39) |
|
probably benign |
Het |
| Lamc3 |
T |
A |
2: 31,798,710 (GRCm39) |
|
probably benign |
Het |
| Lars2 |
T |
G |
9: 123,285,025 (GRCm39) |
M786R |
probably damaging |
Het |
| Lmcd1 |
T |
A |
6: 112,287,460 (GRCm39) |
S49T |
probably benign |
Het |
| Lrba |
T |
C |
3: 86,680,448 (GRCm39) |
Y2689H |
probably benign |
Het |
| Map3k6 |
T |
C |
4: 132,970,677 (GRCm39) |
V188A |
probably benign |
Het |
| Mbd6 |
A |
C |
10: 127,123,013 (GRCm39) |
L49W |
probably damaging |
Het |
| Myo5a |
A |
T |
9: 75,028,115 (GRCm39) |
Y100F |
probably damaging |
Het |
| Myo9a |
T |
A |
9: 59,801,418 (GRCm39) |
|
probably benign |
Het |
| Ncoa7 |
T |
C |
10: 30,538,396 (GRCm39) |
D663G |
probably damaging |
Het |
| Nup214 |
A |
T |
2: 31,908,254 (GRCm39) |
M1075L |
probably benign |
Het |
| Pkd1l3 |
C |
A |
8: 110,382,165 (GRCm39) |
Y240* |
probably null |
Het |
| Pomk |
T |
A |
8: 26,473,338 (GRCm39) |
N205I |
probably damaging |
Het |
| Sdr16c5 |
A |
G |
4: 4,006,575 (GRCm39) |
|
probably benign |
Het |
| Setd1a |
A |
G |
7: 127,385,672 (GRCm39) |
E250G |
possibly damaging |
Het |
| Slc4a3 |
A |
G |
1: 75,531,661 (GRCm39) |
E876G |
probably benign |
Het |
| Srrm4 |
A |
G |
5: 116,587,643 (GRCm39) |
|
probably benign |
Het |
| Stx12 |
A |
G |
4: 132,590,540 (GRCm39) |
V119A |
probably benign |
Het |
| Tmem8b |
T |
A |
4: 43,689,721 (GRCm39) |
S333T |
probably damaging |
Het |
| Usp31 |
T |
C |
7: 121,278,753 (GRCm39) |
|
probably benign |
Het |
| Utp18 |
T |
C |
11: 93,759,245 (GRCm39) |
R410G |
probably damaging |
Het |
| Vmn1r172 |
T |
C |
7: 23,359,463 (GRCm39) |
I116T |
probably damaging |
Het |
| Vwa8 |
T |
A |
14: 79,172,041 (GRCm39) |
L274Q |
possibly damaging |
Het |
| Wdfy3 |
A |
T |
5: 102,014,142 (GRCm39) |
F2655I |
probably damaging |
Het |
| Zfp423 |
A |
T |
8: 88,508,071 (GRCm39) |
Y737N |
probably damaging |
Het |
| Zyx |
C |
A |
6: 42,334,276 (GRCm39) |
S500* |
probably null |
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 |
|
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 |
2016-08-02 |
Incidental Mutation