Incidental Mutation 'R8289:Slc26a6'
| ID |
638584 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc26a6
|
| Ensembl Gene |
ENSMUSG00000023259 |
| Gene Name |
solute carrier family 26, member 6 |
| Synonyms |
B930010B04Rik, CFEX, Pat1 |
| MMRRC Submission |
067711-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
R8289 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
108731239-108742117 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 108733230 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 43
(R43H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141336
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024238]
[ENSMUST00000098376]
[ENSMUST00000188557]
[ENSMUST00000192507]
[ENSMUST00000192559]
[ENSMUST00000193291]
[ENSMUST00000193874]
|
| 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: R43H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000095979
Gene: ENSMUSG00000023259
AA Change: R43H
| 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: R43H
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000140849
Gene: ENSMUSG00000023259
AA Change: R43H
| 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: R43H
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000141336
Gene: ENSMUSG00000023259
AA Change: R43H
| 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: R43H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000141632
Gene: ENSMUSG00000023259
AA Change: R43H
| 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: R43H
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000142250
Gene: ENSMUSG00000023259
AA Change: R43H
| 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: ENSMUST00000193874
AA Change: R43H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000141409
Gene: ENSMUSG00000023259
AA Change: R43H
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (62/62) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
G |
C |
11: 109,927,515 (GRCm39) |
|
probably benign |
Het |
| Adamts3 |
C |
A |
5: 89,923,282 (GRCm39) |
D175Y |
possibly damaging |
Het |
| Adra1b |
G |
A |
11: 43,726,315 (GRCm39) |
P201S |
probably damaging |
Het |
| Ahnak2 |
A |
G |
12: 112,742,242 (GRCm39) |
V610A |
possibly damaging |
Het |
| Ap5s1 |
A |
C |
2: 131,054,379 (GRCm39) |
H62P |
probably benign |
Het |
| Apeh |
A |
G |
9: 107,963,444 (GRCm39) |
S593P |
probably damaging |
Het |
| Arhgap24 |
T |
C |
5: 103,028,692 (GRCm39) |
V289A |
possibly damaging |
Het |
| Atoh1 |
A |
G |
6: 64,706,893 (GRCm39) |
E196G |
probably damaging |
Het |
| Atp1b3 |
G |
A |
9: 96,215,602 (GRCm39) |
S271L |
probably benign |
Het |
| Atp6v0a1 |
A |
G |
11: 100,924,931 (GRCm39) |
R339G |
probably damaging |
Het |
| Calb2 |
T |
C |
8: 110,894,690 (GRCm39) |
H27R |
possibly damaging |
Het |
| Camkk2 |
A |
C |
5: 122,894,689 (GRCm39) |
L201R |
probably damaging |
Het |
| Car15 |
A |
G |
16: 17,654,580 (GRCm39) |
|
probably null |
Het |
| Cecr2 |
A |
G |
6: 120,735,077 (GRCm39) |
N771S |
probably benign |
Het |
| Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
| Csmd1 |
T |
A |
8: 16,108,716 (GRCm39) |
I1896F |
probably damaging |
Het |
| Cubn |
C |
T |
2: 13,491,613 (GRCm39) |
V145I |
probably benign |
Het |
| Cuedc1 |
G |
A |
11: 88,073,381 (GRCm39) |
S182N |
probably benign |
Het |
| Cux1 |
T |
A |
5: 136,337,358 (GRCm39) |
E718V |
probably damaging |
Het |
| Cyp7a1 |
G |
A |
4: 6,268,295 (GRCm39) |
P477S |
probably damaging |
Het |
| Dcaf17 |
T |
A |
2: 70,885,718 (GRCm39) |
W16R |
|
Het |
| Dhx8 |
T |
A |
11: 101,631,571 (GRCm39) |
M388K |
probably benign |
Het |
| Dnah14 |
T |
A |
1: 181,543,780 (GRCm39) |
Y2453* |
probably null |
Het |
| Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
| F830016B08Rik |
G |
A |
18: 60,433,360 (GRCm39) |
E148K |
probably benign |
Het |
| Hectd4 |
A |
G |
5: 121,404,424 (GRCm39) |
T434A |
possibly damaging |
Het |
| Ide |
A |
G |
19: 37,290,952 (GRCm39) |
L368P |
|
Het |
| Ide |
G |
C |
19: 37,290,953 (GRCm39) |
L368V |
probably null |
Het |
| Ifi206 |
T |
C |
1: 173,308,032 (GRCm39) |
I655V |
|
Het |
| Insrr |
A |
G |
3: 87,721,501 (GRCm39) |
M1136V |
probably damaging |
Het |
| Kcne2 |
A |
G |
16: 92,093,707 (GRCm39) |
E78G |
probably damaging |
Het |
| Lrrc23 |
A |
T |
6: 124,755,267 (GRCm39) |
L90H |
probably damaging |
Het |
| Magel2 |
A |
C |
7: 62,028,875 (GRCm39) |
Q593P |
unknown |
Het |
| Mrgpra3 |
G |
A |
7: 47,239,468 (GRCm39) |
H153Y |
possibly damaging |
Het |
| Msln |
A |
G |
17: 25,967,880 (GRCm39) |
V595A |
possibly damaging |
Het |
| Mvb12a |
T |
C |
8: 71,995,703 (GRCm39) |
|
probably null |
Het |
| Myo7a |
T |
G |
7: 97,726,376 (GRCm39) |
M966L |
probably benign |
Het |
| Ncoa5 |
C |
T |
2: 164,854,982 (GRCm39) |
D47N |
possibly damaging |
Het |
| Neurl4 |
T |
A |
11: 69,800,206 (GRCm39) |
|
probably null |
Het |
| Or1e29 |
T |
A |
11: 73,667,839 (GRCm39) |
M105L |
probably benign |
Het |
| Or4d1 |
T |
C |
11: 87,805,589 (GRCm39) |
T48A |
probably benign |
Het |
| Or5p75-ps1 |
T |
A |
7: 108,108,125 (GRCm39) |
H287Q |
unknown |
Het |
| Or8b37 |
T |
A |
9: 37,959,000 (GRCm39) |
C161S |
probably benign |
Het |
| Osbpl7 |
T |
A |
11: 96,947,405 (GRCm39) |
S480T |
probably benign |
Het |
| Podnl1 |
T |
C |
8: 84,858,552 (GRCm39) |
L484P |
|
Het |
| Polr3gl |
G |
T |
3: 96,489,228 (GRCm39) |
|
probably benign |
Het |
| Prkaa1 |
G |
T |
15: 5,206,563 (GRCm39) |
V438L |
possibly damaging |
Het |
| Prune2 |
A |
T |
19: 17,100,373 (GRCm39) |
H1959L |
probably benign |
Het |
| Rad50 |
A |
T |
11: 53,589,685 (GRCm39) |
L172* |
probably null |
Het |
| Samsn1 |
C |
A |
16: 75,685,684 (GRCm39) |
G25W |
probably damaging |
Het |
| Sbno1 |
T |
G |
5: 124,542,068 (GRCm39) |
L362F |
probably damaging |
Het |
| Slc35f5 |
T |
G |
1: 125,490,252 (GRCm39) |
Y49* |
probably null |
Het |
| Slc41a2 |
T |
C |
10: 83,137,044 (GRCm39) |
I288V |
probably benign |
Het |
| Slc9c1 |
A |
G |
16: 45,403,344 (GRCm39) |
M804V |
probably benign |
Het |
| Smc6 |
T |
A |
12: 11,324,052 (GRCm39) |
S66T |
probably benign |
Het |
| Ssh1 |
T |
C |
5: 114,080,445 (GRCm39) |
D995G |
probably benign |
Het |
| Stk11 |
G |
T |
10: 79,961,740 (GRCm39) |
|
probably benign |
Het |
| Sycp1 |
A |
G |
3: 102,748,353 (GRCm39) |
I813T |
probably benign |
Het |
| Tmem121b |
A |
T |
6: 120,469,722 (GRCm39) |
S332T |
possibly damaging |
Het |
| Treml4 |
A |
C |
17: 48,581,456 (GRCm39) |
I244L |
probably benign |
Het |
| Unc13b |
T |
A |
4: 43,172,524 (GRCm39) |
C1117* |
probably null |
Het |
| Wdr35 |
A |
G |
12: 9,058,020 (GRCm39) |
I526V |
probably benign |
Het |
| Zap70 |
T |
C |
1: 36,820,218 (GRCm39) |
W500R |
probably damaging |
Het |
| Zfr |
G |
T |
15: 12,135,357 (GRCm39) |
V49F |
noncoding transcript |
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 |
|
|
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 |
|
|
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'- GAGACTACCATGTGGAAAGGCC -3'
(R):5'- AAGAGCAGAGGTCTTGGCTTC -3'
Sequencing Primer
(F):5'- AGGCCATTGCTGAACCAG -3'
(R):5'- TGGTTTGACACTTCACAGACCAC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation