Incidental Mutation 'R7079:Slc26a6'
| ID |
549420 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc26a6
|
| Ensembl Gene |
ENSMUSG00000023259 |
| Gene Name |
solute carrier family 26, member 6 |
| Synonyms |
B930010B04Rik, CFEX, Pat1 |
| MMRRC Submission |
045173-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R7079 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
108731239-108742117 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 108735147 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 348
(H348Q)
|
| 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 damaging
Transcript: ENSMUST00000098376
AA Change: H348Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095979
Gene: ENSMUSG00000023259
AA Change: H348Q
| 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 damaging
Transcript: ENSMUST00000188557
AA Change: H348Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140849
Gene: ENSMUSG00000023259
AA Change: H348Q
| 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 damaging
Transcript: ENSMUST00000192507
AA Change: H348Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141336
Gene: ENSMUSG00000023259
AA Change: H348Q
| 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 damaging
Transcript: ENSMUST00000193291
AA Change: H348Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142250
Gene: ENSMUSG00000023259
AA Change: H348Q
| 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
|
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
98% (50/51) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
C |
13: 77,402,323 (GRCm39) |
L405S |
possibly damaging |
Het |
| 2310009B15Rik |
T |
A |
1: 138,779,865 (GRCm39) |
Q129L |
possibly damaging |
Het |
| 4921509C19Rik |
T |
G |
2: 151,315,198 (GRCm39) |
D160A |
probably damaging |
Het |
| Aspn |
A |
G |
13: 49,720,031 (GRCm39) |
Y349C |
probably damaging |
Het |
| Atp2b1 |
A |
G |
10: 98,854,595 (GRCm39) |
T1063A |
probably benign |
Het |
| BC035947 |
T |
C |
1: 78,474,552 (GRCm39) |
E660G |
probably damaging |
Het |
| Cadps2 |
A |
G |
6: 23,323,408 (GRCm39) |
L970P |
probably damaging |
Het |
| Caskin1 |
T |
C |
17: 24,717,858 (GRCm39) |
I215T |
probably benign |
Het |
| Cort |
C |
G |
4: 149,211,848 (GRCm39) |
G85R |
probably benign |
Het |
| Cyp1a2 |
T |
C |
9: 57,589,161 (GRCm39) |
I218V |
probably benign |
Het |
| Egfem1 |
T |
A |
3: 29,207,731 (GRCm39) |
H140Q |
probably benign |
Het |
| Elapor2 |
A |
G |
5: 9,449,253 (GRCm39) |
Y127C |
probably damaging |
Het |
| Fbln5 |
G |
A |
12: 101,723,667 (GRCm39) |
P345S |
probably damaging |
Het |
| Fbxw21 |
A |
G |
9: 108,974,578 (GRCm39) |
I314T |
probably benign |
Het |
| Gfpt2 |
G |
A |
11: 49,728,578 (GRCm39) |
V679I |
possibly damaging |
Het |
| Gm10837 |
C |
G |
14: 122,728,142 (GRCm39) |
A6G |
unknown |
Het |
| Grm1 |
T |
C |
10: 10,955,702 (GRCm39) |
D194G |
probably damaging |
Het |
| Hectd1 |
G |
A |
12: 51,834,638 (GRCm39) |
T875M |
possibly damaging |
Het |
| Hey2 |
T |
A |
10: 30,710,382 (GRCm39) |
I124F |
probably benign |
Het |
| Hhat |
T |
C |
1: 192,235,354 (GRCm39) |
H434R |
possibly damaging |
Het |
| Itpripl2 |
A |
G |
7: 118,090,092 (GRCm39) |
F156L |
possibly damaging |
Het |
| Kctd11 |
A |
G |
11: 69,770,847 (GRCm39) |
Y64H |
probably damaging |
Het |
| Lmln |
T |
C |
16: 32,887,661 (GRCm39) |
L97P |
probably benign |
Het |
| Lrrc30 |
T |
C |
17: 67,939,016 (GRCm39) |
D188G |
possibly damaging |
Het |
| Mmd |
T |
A |
11: 90,158,325 (GRCm39) |
|
probably null |
Het |
| Nav3 |
G |
A |
10: 109,603,153 (GRCm39) |
S1132L |
probably benign |
Het |
| Or1l4 |
C |
A |
2: 37,092,185 (GRCm39) |
H311N |
probably benign |
Het |
| Or4c101 |
C |
A |
2: 88,389,853 (GRCm39) |
N2K |
probably damaging |
Het |
| Or52ab7 |
C |
T |
7: 102,978,391 (GRCm39) |
R233C |
probably benign |
Het |
| Pcdh15 |
A |
G |
10: 74,152,957 (GRCm39) |
T421A |
probably benign |
Het |
| Pfkm |
G |
A |
15: 97,992,963 (GRCm39) |
R7H |
probably benign |
Het |
| Psme2b |
A |
G |
11: 48,836,443 (GRCm39) |
F168S |
probably damaging |
Het |
| Ptk2 |
G |
A |
15: 73,093,658 (GRCm39) |
P854S |
possibly damaging |
Het |
| Ptpn13 |
T |
C |
5: 103,649,752 (GRCm39) |
V385A |
probably benign |
Het |
| Reep5 |
G |
A |
18: 34,480,176 (GRCm39) |
T189I |
probably damaging |
Het |
| Sacm1l |
T |
A |
9: 123,399,062 (GRCm39) |
Y272N |
probably damaging |
Het |
| Son |
CATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAG |
CATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAG |
16: 91,453,729 (GRCm39) |
|
probably benign |
Het |
| Spata31f1a |
T |
C |
4: 42,851,718 (GRCm39) |
E146G |
probably benign |
Het |
| Stkld1 |
A |
G |
2: 26,839,359 (GRCm39) |
I342V |
probably benign |
Het |
| Trim23 |
A |
T |
13: 104,323,801 (GRCm39) |
|
probably null |
Het |
| Trmt13 |
T |
C |
3: 116,376,480 (GRCm39) |
T304A |
probably benign |
Het |
| Tyw3 |
G |
C |
3: 154,299,426 (GRCm39) |
S94R |
probably benign |
Het |
| Ubqln3 |
A |
T |
7: 103,790,578 (GRCm39) |
I504K |
probably benign |
Het |
| Uhrf2 |
T |
G |
19: 30,060,190 (GRCm39) |
N519K |
probably null |
Het |
| Wdr93 |
T |
C |
7: 79,399,040 (GRCm39) |
M58T |
probably damaging |
Het |
| Wwc2 |
G |
A |
8: 48,300,580 (GRCm39) |
T961M |
unknown |
Het |
| Zfp35 |
C |
T |
18: 24,136,357 (GRCm39) |
H234Y |
possibly damaging |
Het |
| Zscan21 |
C |
T |
5: 138,124,728 (GRCm39) |
P215S |
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 |
|
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 |
|
|
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'- GATAGCTAGAGTTGGGCCATCC -3'
(R):5'- TGTAAGAAGACTTGCTAGGGATGC -3'
Sequencing Primer
(F):5'- TAGAGTTGGGCCATCCTCTGAC -3'
(R):5'- GCTAGGGATGCTTATACTGACACAC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation