Incidental Mutation 'R5533:Slc26a6'
| ID |
433756 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc26a6
|
| Ensembl Gene |
ENSMUSG00000023259 |
| Gene Name |
solute carrier family 26, member 6 |
| Synonyms |
B930010B04Rik, CFEX, Pat1 |
| MMRRC Submission |
043091-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
R5533 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
108731239-108742117 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 108735155 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 351
(R351H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095979
(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: R351H
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000095979
Gene: ENSMUSG00000023259
AA Change: R351H
| 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: R351H
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000140849
Gene: ENSMUSG00000023259
AA Change: R351H
| 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: R351H
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000141336
Gene: ENSMUSG00000023259
AA Change: R351H
| 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: R351H
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000142250
Gene: ENSMUSG00000023259
AA Change: R351H
| 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: ENSMUST00000195646
|
| 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 |
|
| Coding Region Coverage |
- 1x: 98.4%
- 3x: 97.1%
- 10x: 94.5%
- 20x: 88.2%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agap2 |
A |
G |
10: 126,918,911 (GRCm39) |
E429G |
probably damaging |
Het |
| Akap12 |
T |
A |
10: 4,307,405 (GRCm39) |
V1405D |
probably damaging |
Het |
| Akap7 |
C |
T |
10: 25,159,880 (GRCm39) |
D107N |
possibly damaging |
Het |
| Arfgef1 |
A |
G |
1: 10,269,952 (GRCm39) |
|
probably null |
Het |
| Cacna1s |
T |
A |
1: 136,026,113 (GRCm39) |
|
probably null |
Het |
| Ctsd |
T |
C |
7: 141,931,070 (GRCm39) |
Q274R |
probably benign |
Het |
| Dysf |
G |
A |
6: 84,163,453 (GRCm39) |
R1575Q |
probably damaging |
Het |
| Erich6b |
A |
T |
14: 75,896,274 (GRCm39) |
L53F |
possibly damaging |
Het |
| Exoc6 |
A |
C |
19: 37,582,218 (GRCm39) |
|
probably null |
Het |
| Fbxw19 |
A |
T |
9: 109,315,133 (GRCm39) |
V143E |
probably benign |
Het |
| Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
| Fndc1 |
A |
G |
17: 7,991,608 (GRCm39) |
F696S |
unknown |
Het |
| Foxa3 |
G |
T |
7: 18,748,940 (GRCm39) |
Y102* |
probably null |
Het |
| Foxn1 |
A |
G |
11: 78,256,792 (GRCm39) |
M301T |
probably damaging |
Het |
| Foxp2 |
C |
T |
6: 15,197,119 (GRCm39) |
Q54* |
probably null |
Het |
| Glra1 |
T |
C |
11: 55,423,208 (GRCm39) |
E117G |
possibly damaging |
Het |
| Glt1d1 |
A |
T |
5: 127,768,095 (GRCm39) |
D234V |
probably damaging |
Het |
| Golm2 |
AGATGGTGATGGTG |
AGATGGTG |
2: 121,756,178 (GRCm39) |
|
probably benign |
Het |
| Gulp1 |
T |
C |
1: 44,812,441 (GRCm39) |
I137T |
probably damaging |
Het |
| Itga8 |
A |
G |
2: 12,165,161 (GRCm39) |
V816A |
possibly damaging |
Het |
| Kdm4c |
G |
A |
4: 74,233,886 (GRCm39) |
|
probably benign |
Het |
| Krtap19-2 |
A |
G |
16: 88,670,996 (GRCm39) |
|
probably benign |
Het |
| Lcorl |
T |
C |
5: 45,891,219 (GRCm39) |
N378S |
possibly damaging |
Het |
| Ltbr |
G |
A |
6: 125,289,757 (GRCm39) |
R146W |
probably damaging |
Het |
| Mocos |
T |
C |
18: 24,807,357 (GRCm39) |
L363P |
probably damaging |
Het |
| Mycbp2 |
G |
T |
14: 103,520,081 (GRCm39) |
Y745* |
probably null |
Het |
| Nav3 |
A |
C |
10: 109,719,539 (GRCm39) |
N141K |
possibly damaging |
Het |
| Ncor1 |
T |
C |
11: 62,233,837 (GRCm39) |
N779S |
probably benign |
Het |
| Nebl |
G |
T |
2: 17,398,079 (GRCm39) |
Y414* |
probably null |
Het |
| Nf1 |
T |
G |
11: 79,336,615 (GRCm39) |
C1065G |
probably damaging |
Het |
| Nfib |
A |
G |
4: 82,278,004 (GRCm39) |
V216A |
probably damaging |
Het |
| Nub1 |
A |
T |
5: 24,907,379 (GRCm39) |
N354I |
possibly damaging |
Het |
| Nyap1 |
C |
T |
5: 137,733,726 (GRCm39) |
V436I |
probably benign |
Het |
| Or5m11b |
A |
G |
2: 85,805,797 (GRCm39) |
D70G |
possibly damaging |
Het |
| Or5p73 |
T |
C |
7: 108,065,469 (GRCm39) |
F313L |
probably benign |
Het |
| Pde2a |
T |
A |
7: 101,155,187 (GRCm39) |
M570K |
probably damaging |
Het |
| Pfas |
T |
C |
11: 68,882,296 (GRCm39) |
S856G |
probably benign |
Het |
| Pkd1l2 |
T |
C |
8: 117,794,855 (GRCm39) |
E368G |
probably benign |
Het |
| Ptf1a |
G |
A |
2: 19,451,969 (GRCm39) |
V323M |
probably damaging |
Het |
| Ptprh |
T |
C |
7: 4,552,504 (GRCm39) |
Y920C |
probably damaging |
Het |
| Sergef |
T |
A |
7: 46,264,200 (GRCm39) |
D229V |
possibly damaging |
Het |
| Slc1a4 |
T |
C |
11: 20,254,417 (GRCm39) |
K483R |
probably benign |
Het |
| Slc6a19 |
G |
A |
13: 73,833,948 (GRCm39) |
T370I |
possibly damaging |
Het |
| Smpd5 |
T |
C |
15: 76,178,757 (GRCm39) |
S42P |
possibly damaging |
Het |
| Snx13 |
G |
A |
12: 35,173,025 (GRCm39) |
|
probably null |
Het |
| Sox10 |
G |
A |
15: 79,040,502 (GRCm39) |
S185L |
probably benign |
Het |
| Spata31e5 |
T |
A |
1: 28,817,163 (GRCm39) |
I290F |
probably damaging |
Het |
| Srpk1 |
T |
C |
17: 28,821,733 (GRCm39) |
Y227C |
probably damaging |
Het |
| Stambpl1 |
T |
A |
19: 34,211,316 (GRCm39) |
|
probably null |
Het |
| Stk36 |
A |
G |
1: 74,665,750 (GRCm39) |
R698G |
possibly damaging |
Het |
| Tas2r122 |
T |
A |
6: 132,688,393 (GRCm39) |
T167S |
probably damaging |
Het |
| Tlr12 |
A |
G |
4: 128,509,656 (GRCm39) |
S865P |
probably damaging |
Het |
| Trp53bp1 |
A |
G |
2: 121,038,227 (GRCm39) |
L1537P |
probably damaging |
Het |
| Vstm2a |
C |
A |
11: 16,213,125 (GRCm39) |
T170K |
possibly damaging |
Het |
| Xpo7 |
A |
T |
14: 70,931,407 (GRCm39) |
F304I |
probably damaging |
Het |
| Zfp286 |
T |
C |
11: 62,671,796 (GRCm39) |
|
probably benign |
Het |
| Zfp985 |
A |
T |
4: 147,667,440 (GRCm39) |
K103* |
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 |
|
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 |
|
|
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'- TAGAGTTGGGCCATCCTCTG -3'
(R):5'- AGTTGTGTAAGAAGACTTGCTAGG -3'
Sequencing Primer
(F):5'- GGGCCATCCTCTGACCTC -3'
(R):5'- GCTAGGGATGCTTATACTGACACAC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation