Incidental Mutation 'R4175:Slc26a6'
ID |
318270 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc26a6
|
Ensembl Gene |
ENSMUSG00000023259 |
Gene Name |
solute carrier family 26, member 6 |
Synonyms |
B930010B04Rik, CFEX, Pat1 |
MMRRC Submission |
041013-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.117)
|
Stock # |
R4175 (G1)
|
Quality Score |
213 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
108731239-108742117 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
G to A
at 108731416 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150759
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024238]
[ENSMUST00000098376]
[ENSMUST00000188557]
[ENSMUST00000192507]
[ENSMUST00000192559]
[ENSMUST00000193291]
[ENSMUST00000213524]
[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
|
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 benign
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 benign
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 benign
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: ENSMUST00000195646
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193825
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000213524
|
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: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
96% (46/48) |
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd63 |
T |
C |
2: 118,533,100 (GRCm39) |
M274V |
probably benign |
Het |
Ano6 |
A |
T |
15: 95,860,050 (GRCm39) |
D724V |
probably damaging |
Het |
Apobec3 |
A |
G |
15: 79,779,653 (GRCm39) |
N43S |
probably damaging |
Het |
Arfgef1 |
T |
C |
1: 10,229,861 (GRCm39) |
H1280R |
probably damaging |
Het |
Cbfa2t3 |
C |
T |
8: 123,370,057 (GRCm39) |
V139M |
probably damaging |
Het |
Cd200r3 |
T |
A |
16: 44,774,552 (GRCm39) |
D188E |
probably benign |
Het |
Clmp |
A |
T |
9: 40,682,432 (GRCm39) |
N72I |
probably benign |
Het |
Col11a1 |
A |
C |
3: 114,001,872 (GRCm39) |
D432A |
possibly damaging |
Het |
Creb3l1 |
A |
G |
2: 91,813,520 (GRCm39) |
F506L |
probably benign |
Het |
Ctbp1 |
A |
G |
5: 33,424,250 (GRCm39) |
S47P |
probably damaging |
Het |
Dus1l |
G |
A |
11: 120,686,506 (GRCm39) |
R12C |
possibly damaging |
Het |
Elp5 |
T |
C |
11: 69,861,388 (GRCm39) |
Q197R |
probably null |
Het |
Epb41l4b |
A |
G |
4: 57,076,556 (GRCm39) |
V326A |
probably damaging |
Het |
Fhdc1 |
T |
C |
3: 84,364,294 (GRCm39) |
|
probably benign |
Het |
Gm27013 |
T |
A |
6: 130,654,110 (GRCm39) |
T451S |
probably benign |
Het |
Ifi208 |
A |
T |
1: 173,510,267 (GRCm39) |
M141L |
probably benign |
Het |
Inpp5e |
A |
G |
2: 26,290,937 (GRCm39) |
S377P |
probably damaging |
Het |
Kat2a |
A |
G |
11: 100,596,092 (GRCm39) |
L822P |
probably damaging |
Het |
Kcnip2 |
G |
C |
19: 45,800,654 (GRCm39) |
T24S |
probably benign |
Het |
Med17 |
A |
G |
9: 15,178,765 (GRCm39) |
Y469H |
possibly damaging |
Het |
Mindy3 |
C |
T |
2: 12,410,676 (GRCm39) |
C77Y |
probably damaging |
Het |
Mmp1a |
A |
G |
9: 7,467,236 (GRCm39) |
T271A |
probably benign |
Het |
Ncor2 |
A |
T |
5: 125,128,020 (GRCm39) |
S118T |
probably damaging |
Het |
Or5ak24 |
A |
T |
2: 85,260,962 (GRCm39) |
D70E |
probably damaging |
Het |
Osmr |
A |
T |
15: 6,882,027 (GRCm39) |
V39D |
probably damaging |
Het |
Pcdh15 |
G |
A |
10: 74,467,829 (GRCm39) |
|
probably benign |
Het |
Pclo |
A |
G |
5: 14,763,889 (GRCm39) |
K836E |
probably damaging |
Het |
Phaf1 |
T |
C |
8: 105,967,763 (GRCm39) |
L218P |
probably benign |
Het |
Pik3r1 |
A |
T |
13: 101,838,240 (GRCm39) |
L272H |
probably damaging |
Het |
Pik3r1 |
G |
A |
13: 101,838,241 (GRCm39) |
L272F |
probably benign |
Het |
Prrc2b |
G |
GCT |
2: 32,108,820 (GRCm39) |
|
probably benign |
Het |
Ptprq |
T |
G |
10: 107,547,778 (GRCm39) |
I207L |
probably benign |
Het |
Rasa2 |
G |
T |
9: 96,442,830 (GRCm39) |
T531K |
probably benign |
Het |
Six4 |
G |
A |
12: 73,155,605 (GRCm39) |
T454I |
probably damaging |
Het |
Slc7a13 |
G |
A |
4: 19,819,492 (GRCm39) |
G231R |
probably null |
Het |
Slco3a1 |
T |
A |
7: 73,968,302 (GRCm39) |
N473Y |
probably damaging |
Het |
Tapt1 |
G |
A |
5: 44,334,447 (GRCm39) |
L515F |
probably benign |
Het |
Tmem145 |
T |
C |
7: 25,008,218 (GRCm39) |
I253T |
probably benign |
Het |
Trip11 |
G |
A |
12: 101,861,957 (GRCm39) |
Q203* |
probably null |
Het |
Unc13a |
A |
G |
8: 72,120,368 (GRCm39) |
|
probably benign |
Het |
Usp24 |
T |
C |
4: 106,173,970 (GRCm39) |
V101A |
probably benign |
Het |
Zfp36l3 |
T |
C |
X: 52,777,840 (GRCm39) |
T125A |
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 |
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 |
|
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 |
|
Posted On |
2015-06-10 |