Incidental Mutation 'R5662:Slc26a6'
| ID |
444140 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc26a6
|
| Ensembl Gene |
ENSMUSG00000023259 |
| Gene Name |
solute carrier family 26, member 6 |
| Synonyms |
B930010B04Rik, CFEX, Pat1 |
| MMRRC Submission |
043305-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R5662 (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 108736538 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 506
(V506M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095979
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098376]
[ENSMUST00000188557]
[ENSMUST00000192507]
[ENSMUST00000192559]
[ENSMUST00000193291]
[ENSMUST00000193874]
|
| AlphaFold |
Q8CIW6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000098376
AA Change: V506M
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000095979
Gene: ENSMUSG00000023259
AA Change: V506M
| 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: V506M
PolyPhen 2
Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000140849
Gene: ENSMUSG00000023259
AA Change: V506M
| 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: V506M
PolyPhen 2
Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000141336
Gene: ENSMUSG00000023259
AA Change: V506M
| 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
AA Change: V506M
PolyPhen 2
Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000142250
Gene: ENSMUSG00000023259
AA Change: V506M
| 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 |
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
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.8%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
T |
A |
7: 78,749,855 (GRCm39) |
V1542D |
possibly damaging |
Het |
| Acsm4 |
T |
G |
7: 119,294,023 (GRCm39) |
N131K |
possibly damaging |
Het |
| Ankrd54 |
A |
G |
15: 78,946,814 (GRCm39) |
S62P |
possibly damaging |
Het |
| Ccdc186 |
A |
G |
19: 56,781,920 (GRCm39) |
I753T |
probably benign |
Het |
| Cers2 |
C |
T |
3: 95,228,295 (GRCm39) |
R112C |
probably damaging |
Het |
| Col6a4 |
C |
G |
9: 105,945,200 (GRCm39) |
R971S |
probably damaging |
Het |
| Ctsf |
T |
C |
19: 4,906,606 (GRCm39) |
S178P |
probably damaging |
Het |
| Dennd4c |
C |
T |
4: 86,713,525 (GRCm39) |
T492I |
probably benign |
Het |
| Dhx8 |
A |
G |
11: 101,657,584 (GRCm39) |
K1212E |
possibly damaging |
Het |
| Dnah8 |
A |
G |
17: 30,956,307 (GRCm39) |
T2096A |
probably damaging |
Het |
| Ephb4 |
A |
T |
5: 137,370,457 (GRCm39) |
I886F |
probably damaging |
Het |
| Eprs1 |
T |
G |
1: 185,126,622 (GRCm39) |
N519K |
possibly damaging |
Het |
| Fam3c |
T |
C |
6: 22,355,061 (GRCm39) |
|
probably benign |
Het |
| Galnt17 |
G |
A |
5: 131,114,844 (GRCm39) |
R219C |
probably damaging |
Het |
| Gm10645 |
A |
G |
8: 83,892,486 (GRCm39) |
|
probably benign |
Het |
| Gpr132 |
G |
A |
12: 112,816,416 (GRCm39) |
R137C |
probably damaging |
Het |
| Hydin |
T |
G |
8: 111,307,341 (GRCm39) |
S3907A |
probably benign |
Het |
| Ighv1-49 |
A |
T |
12: 115,019,027 (GRCm39) |
V56E |
probably damaging |
Het |
| Igtp |
A |
G |
11: 58,097,105 (GRCm39) |
D92G |
probably damaging |
Het |
| Itga1 |
C |
T |
13: 115,122,707 (GRCm39) |
V750I |
probably benign |
Het |
| Katnip |
A |
G |
7: 125,441,875 (GRCm39) |
R595G |
probably benign |
Het |
| Kif3c |
T |
A |
12: 3,417,031 (GRCm39) |
Y351N |
probably damaging |
Het |
| Klhdc1 |
T |
A |
12: 69,329,939 (GRCm39) |
I356N |
probably benign |
Het |
| Lrrc34 |
T |
C |
3: 30,685,473 (GRCm39) |
Y292C |
probably benign |
Het |
| Ly75 |
G |
A |
2: 60,182,725 (GRCm39) |
T526M |
probably damaging |
Het |
| Mroh4 |
A |
T |
15: 74,497,277 (GRCm39) |
D181E |
possibly damaging |
Het |
| Nutm1 |
T |
C |
2: 112,079,645 (GRCm39) |
N757D |
probably benign |
Het |
| Or1e25 |
T |
C |
11: 73,494,005 (GRCm39) |
F200L |
probably benign |
Het |
| Or1m1 |
A |
G |
9: 18,666,896 (GRCm39) |
F12L |
probably damaging |
Het |
| Or6c215 |
T |
C |
10: 129,638,176 (GRCm39) |
T73A |
possibly damaging |
Het |
| Or9s18 |
T |
C |
13: 65,300,067 (GRCm39) |
F10L |
possibly damaging |
Het |
| Paxbp1 |
G |
A |
16: 90,834,285 (GRCm39) |
T167M |
probably benign |
Het |
| Pnpla7 |
A |
G |
2: 24,942,396 (GRCm39) |
D1238G |
probably damaging |
Het |
| Pom121l2 |
T |
C |
13: 22,166,358 (GRCm39) |
S210P |
probably benign |
Het |
| Ripor3 |
T |
G |
2: 167,835,476 (GRCm39) |
N165T |
probably benign |
Het |
| Serpine3 |
T |
G |
14: 62,908,291 (GRCm39) |
S106R |
probably benign |
Het |
| Slc25a11 |
G |
A |
11: 70,536,245 (GRCm39) |
R158* |
probably null |
Het |
| Slc45a2 |
A |
G |
15: 11,022,169 (GRCm39) |
K304E |
probably benign |
Het |
| Slc4a4 |
C |
T |
5: 89,176,103 (GRCm39) |
L25F |
probably damaging |
Het |
| Smarcb1 |
T |
C |
10: 75,740,404 (GRCm39) |
N267S |
possibly damaging |
Het |
| Spink6 |
C |
A |
18: 44,207,481 (GRCm39) |
Q24K |
possibly damaging |
Het |
| Srebf2 |
T |
C |
15: 82,079,204 (GRCm39) |
S811P |
probably benign |
Het |
| Ssc4d |
A |
G |
5: 135,989,748 (GRCm39) |
*587R |
probably null |
Het |
| Sult2a8 |
C |
T |
7: 14,161,765 (GRCm39) |
R27H |
probably benign |
Het |
| Sun2 |
C |
T |
15: 79,623,069 (GRCm39) |
A90T |
probably benign |
Het |
| Ubr7 |
T |
C |
12: 102,734,526 (GRCm39) |
S267P |
probably benign |
Het |
| Wdr55 |
G |
A |
18: 36,893,448 (GRCm39) |
V37M |
possibly damaging |
Het |
| Xdh |
C |
T |
17: 74,248,110 (GRCm39) |
G45S |
probably damaging |
Het |
| Zfp638 |
T |
A |
6: 83,920,111 (GRCm39) |
S570T |
probably 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 |
|
|
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 |
|
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'- AAGTGTCACCCCAGCTCTTC -3'
(R):5'- GTCACAGACTCAGACTCTTCACTTC -3'
Sequencing Primer
(F):5'- TGTCACCCCAGCTCTTCACAAG -3'
(R):5'- GGGTCTCTTACTGAACCTAGAGC -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation