Incidental Mutation 'R0661:Slc26a6'
| ID |
61845 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc26a6
|
| Ensembl Gene |
ENSMUSG00000023259 |
| Gene Name |
solute carrier family 26, member 6 |
| Synonyms |
B930010B04Rik, CFEX, Pat1 |
| MMRRC Submission |
038846-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R0661 (G1)
|
| Quality Score |
119 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
108731239-108742117 bp(+) (GRCm39) |
| Type of Mutation |
splice site (6 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 108736312 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142250
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098376]
[ENSMUST00000098376]
[ENSMUST00000188557]
[ENSMUST00000188557]
[ENSMUST00000192507]
[ENSMUST00000192559]
[ENSMUST00000193291]
[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: 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: 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 |
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: ENSMUST00000193825
|
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.0%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agtr1b |
T |
A |
3: 20,370,163 (GRCm39) |
T148S |
possibly damaging |
Het |
| Anks3 |
A |
G |
16: 4,766,198 (GRCm39) |
F124L |
probably damaging |
Het |
| Ar |
T |
A |
X: 97,194,171 (GRCm39) |
Y262N |
probably damaging |
Het |
| Asxl1 |
T |
A |
2: 153,242,644 (GRCm39) |
S1065T |
possibly damaging |
Het |
| Brip1 |
A |
T |
11: 86,001,189 (GRCm39) |
I749N |
possibly damaging |
Het |
| C1ra |
T |
A |
6: 124,499,336 (GRCm39) |
H507Q |
probably benign |
Het |
| Cdk9 |
G |
A |
2: 32,599,832 (GRCm39) |
T135I |
probably damaging |
Het |
| Col1a1 |
A |
G |
11: 94,840,215 (GRCm39) |
T1088A |
unknown |
Het |
| Cpne2 |
T |
C |
8: 95,282,667 (GRCm39) |
I283T |
possibly damaging |
Het |
| Dcaf17 |
T |
C |
2: 70,918,779 (GRCm39) |
L451P |
probably damaging |
Het |
| Dhx57 |
C |
T |
17: 80,576,293 (GRCm39) |
C599Y |
probably damaging |
Het |
| Drd1 |
T |
A |
13: 54,207,057 (GRCm39) |
N379Y |
possibly damaging |
Het |
| Fsip2 |
A |
G |
2: 82,816,513 (GRCm39) |
D4082G |
possibly damaging |
Het |
| Grin2a |
G |
T |
16: 9,810,336 (GRCm39) |
P21Q |
probably damaging |
Het |
| Heyl |
G |
T |
4: 123,139,824 (GRCm39) |
V128F |
probably damaging |
Het |
| Hoxd12 |
A |
G |
2: 74,506,236 (GRCm39) |
E216G |
probably damaging |
Het |
| Inpp4b |
C |
A |
8: 82,468,091 (GRCm39) |
A18E |
possibly damaging |
Het |
| Invs |
G |
A |
4: 48,421,861 (GRCm39) |
R831H |
probably benign |
Het |
| Lrrk2 |
T |
C |
15: 91,671,219 (GRCm39) |
V2000A |
probably damaging |
Het |
| Msh3 |
T |
C |
13: 92,481,604 (GRCm39) |
N303D |
possibly damaging |
Het |
| Or11g27 |
A |
G |
14: 50,771,552 (GRCm39) |
T228A |
probably benign |
Het |
| Or5an9 |
T |
C |
19: 12,187,068 (GRCm39) |
L46P |
probably damaging |
Het |
| Or5b105 |
G |
A |
19: 13,080,642 (GRCm39) |
R3C |
possibly damaging |
Het |
| Pcdh18 |
A |
C |
3: 49,707,767 (GRCm39) |
S902R |
possibly damaging |
Het |
| Prdm15 |
A |
T |
16: 97,630,882 (GRCm39) |
V190E |
probably benign |
Het |
| Ranbp2 |
T |
G |
10: 58,314,555 (GRCm39) |
S1758R |
probably benign |
Het |
| Rimbp2 |
A |
G |
5: 128,863,774 (GRCm39) |
V738A |
probably benign |
Het |
| Rtl5 |
T |
C |
X: 101,114,056 (GRCm39) |
H138R |
possibly damaging |
Het |
| Sec11a |
A |
G |
7: 80,584,787 (GRCm39) |
V50A |
probably damaging |
Het |
| Shroom1 |
T |
C |
11: 53,357,764 (GRCm39) |
S772P |
possibly damaging |
Het |
| Slf1 |
A |
G |
13: 77,231,715 (GRCm39) |
W555R |
probably benign |
Het |
| Spx |
A |
G |
6: 142,359,565 (GRCm39) |
S5G |
possibly damaging |
Het |
| Tcp1 |
T |
C |
17: 13,142,200 (GRCm39) |
V398A |
probably benign |
Het |
| Tm6sf1 |
G |
A |
7: 81,515,093 (GRCm39) |
|
probably null |
Het |
| Tsbp1 |
A |
T |
17: 34,678,887 (GRCm39) |
I217F |
possibly damaging |
Het |
| Ufsp2 |
T |
A |
8: 46,432,270 (GRCm39) |
M1K |
probably null |
Het |
| Usf1 |
G |
A |
1: 171,245,067 (GRCm39) |
R196Q |
probably damaging |
Het |
| Vmn2r75 |
G |
A |
7: 85,814,866 (GRCm39) |
A209V |
probably benign |
Het |
| Yme1l1 |
T |
A |
2: 23,081,054 (GRCm39) |
M442K |
probably damaging |
Het |
| Zfand3 |
A |
G |
17: 30,354,372 (GRCm39) |
E63G |
probably damaging |
Het |
| Zfp740 |
A |
G |
15: 102,121,094 (GRCm39) |
T136A |
possibly damaging |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCTCAGCAACCCTGATGACATTCC -3'
(R):5'- AATATCCGTATCTGGCACCTGCCC -3'
Sequencing Primer
(F):5'- GCTCTCTTTGGAAGGCAAAC -3'
(R):5'- AAGCTGTGCTTGTGAAGAGC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation