Incidental Mutation 'R3894:Slc26a3'
ID |
310462 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc26a3
|
Ensembl Gene |
ENSMUSG00000001225 |
Gene Name |
solute carrier family 26, member 3 |
Synonyms |
9130013M11Rik, 9030623B18Rik, Dra |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.770)
|
Stock # |
R3894 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
31483141-31523921 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 31514719 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Serine
at position 513
(Y513S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000001254
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001254]
[ENSMUST00000171616]
|
AlphaFold |
Q9WVC8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000001254
AA Change: Y513S
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000001254 Gene: ENSMUSG00000001225 AA Change: Y513S
Domain | Start | End | E-Value | Type |
Pfam:Sulfate_transp
|
73 |
468 |
3.1e-115 |
PFAM |
low complexity region
|
475 |
481 |
N/A |
INTRINSIC |
Pfam:STAS
|
519 |
709 |
2e-40 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000171616
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes a member of the solute carrier/sulfate transporter family. The encoded protein is predominantly expressed in the intestine where it is essential for chloride absorption. Disruption of this gene results in chloride-rich diarrhea and compensatory up-regulation of ion-absorbing transporters. [provided by RefSeq, Dec 2012] PHENOTYPE: Homozygotes for a null allele display partial postnatal lethality; survivors are small and show lower luminal Cl-/HCO3- exchange activity, acidic chloridorrhea, volume depletion, upregulation of ion transporters, dilated colons, higher crypt proliferation and plasma aldosterone, and premature death. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akt1s1 |
A |
G |
7: 44,503,363 (GRCm39) |
D180G |
probably damaging |
Het |
Aldh1a7 |
A |
T |
19: 20,673,762 (GRCm39) |
Y457* |
probably null |
Het |
Alpk3 |
C |
T |
7: 80,728,138 (GRCm39) |
P423S |
possibly damaging |
Het |
Aox1 |
A |
T |
1: 58,373,837 (GRCm39) |
|
probably null |
Het |
Crebbp |
T |
C |
16: 3,913,966 (GRCm39) |
T1316A |
probably benign |
Het |
Cul3 |
C |
A |
1: 80,261,407 (GRCm39) |
V273F |
probably damaging |
Het |
Dnah1 |
G |
T |
14: 31,028,985 (GRCm39) |
R582S |
probably benign |
Het |
Fbxl2 |
T |
C |
9: 113,832,261 (GRCm39) |
N51S |
probably damaging |
Het |
Gapvd1 |
T |
C |
2: 34,618,488 (GRCm39) |
D295G |
probably benign |
Het |
Gdf7 |
A |
G |
12: 8,348,845 (GRCm39) |
S151P |
unknown |
Het |
Gm10277 |
T |
C |
11: 77,676,827 (GRCm39) |
|
probably benign |
Het |
Hdac4 |
T |
C |
1: 91,898,690 (GRCm39) |
E688G |
possibly damaging |
Het |
Htr1d |
A |
G |
4: 136,170,548 (GRCm39) |
E259G |
probably benign |
Het |
Ifi204 |
T |
C |
1: 173,576,774 (GRCm39) |
H609R |
possibly damaging |
Het |
Ift80 |
T |
C |
3: 68,825,332 (GRCm39) |
D541G |
probably damaging |
Het |
Il18r1 |
A |
T |
1: 40,514,034 (GRCm39) |
H80L |
possibly damaging |
Het |
Lrp4 |
G |
A |
2: 91,304,294 (GRCm39) |
G158S |
probably damaging |
Het |
Mesd |
T |
A |
7: 83,546,993 (GRCm39) |
L152H |
probably damaging |
Het |
Mmut |
G |
A |
17: 41,266,030 (GRCm39) |
C531Y |
probably damaging |
Het |
Morf4l1 |
A |
T |
9: 89,976,501 (GRCm39) |
F276I |
possibly damaging |
Het |
Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
Myo15a |
A |
G |
11: 60,395,145 (GRCm39) |
T2480A |
probably benign |
Het |
Or2a52 |
A |
T |
6: 43,144,192 (GRCm39) |
I67F |
probably benign |
Het |
Or2y15 |
G |
A |
11: 49,350,766 (GRCm39) |
G87R |
possibly damaging |
Het |
Or4f47 |
T |
C |
2: 111,972,359 (GRCm39) |
I23T |
probably benign |
Het |
Or4g17 |
C |
A |
2: 111,209,982 (GRCm39) |
F212L |
probably benign |
Het |
Or5k16 |
A |
G |
16: 58,736,702 (GRCm39) |
F101L |
probably benign |
Het |
Ovgp1 |
T |
C |
3: 105,893,883 (GRCm39) |
|
probably benign |
Het |
Ovgp1 |
A |
G |
3: 105,893,912 (GRCm39) |
|
probably benign |
Het |
Pcbp4 |
A |
T |
9: 106,338,570 (GRCm39) |
Q59L |
possibly damaging |
Het |
Prg4 |
G |
C |
1: 150,330,510 (GRCm39) |
|
probably benign |
Het |
Rad50 |
T |
A |
11: 53,569,697 (GRCm39) |
I905L |
probably benign |
Het |
Rp1l1 |
T |
C |
14: 64,266,756 (GRCm39) |
S781P |
probably benign |
Het |
Rps3 |
C |
T |
7: 99,129,103 (GRCm39) |
R173H |
probably benign |
Het |
Rtn3 |
T |
A |
19: 7,412,450 (GRCm39) |
T86S |
probably damaging |
Het |
Sdha |
A |
T |
13: 74,482,510 (GRCm39) |
S268T |
probably benign |
Het |
Sgo2b |
A |
T |
8: 64,381,767 (GRCm39) |
V355E |
possibly damaging |
Het |
Sh3glb2 |
T |
C |
2: 30,245,300 (GRCm39) |
T60A |
probably damaging |
Het |
Slc35b2 |
T |
C |
17: 45,877,368 (GRCm39) |
V165A |
probably benign |
Het |
Slco3a1 |
A |
G |
7: 73,934,361 (GRCm39) |
W604R |
probably damaging |
Het |
Tet2 |
A |
G |
3: 133,175,238 (GRCm39) |
S1370P |
possibly damaging |
Het |
Tmtc4 |
A |
T |
14: 123,158,731 (GRCm39) |
|
probably null |
Het |
Tsga13 |
A |
G |
6: 30,889,198 (GRCm39) |
V18A |
probably benign |
Het |
Ugt2a3 |
T |
C |
5: 87,477,449 (GRCm39) |
T317A |
probably benign |
Het |
Zcchc4 |
A |
T |
5: 52,941,442 (GRCm39) |
D79V |
probably damaging |
Het |
|
Other mutations in Slc26a3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01446:Slc26a3
|
APN |
12 |
31,502,490 (GRCm39) |
splice site |
probably benign |
|
IGL01717:Slc26a3
|
APN |
12 |
31,513,476 (GRCm39) |
missense |
probably benign |
0.11 |
IGL02151:Slc26a3
|
APN |
12 |
31,497,830 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02374:Slc26a3
|
APN |
12 |
31,520,832 (GRCm39) |
splice site |
probably benign |
|
IGL02445:Slc26a3
|
APN |
12 |
31,507,051 (GRCm39) |
missense |
possibly damaging |
0.65 |
IGL02526:Slc26a3
|
APN |
12 |
31,507,095 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02831:Slc26a3
|
APN |
12 |
31,502,628 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4486001:Slc26a3
|
UTSW |
12 |
31,520,949 (GRCm39) |
missense |
probably benign |
0.01 |
R0422:Slc26a3
|
UTSW |
12 |
31,515,848 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0544:Slc26a3
|
UTSW |
12 |
31,497,739 (GRCm39) |
missense |
probably benign |
|
R0781:Slc26a3
|
UTSW |
12 |
31,515,812 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1561:Slc26a3
|
UTSW |
12 |
31,516,451 (GRCm39) |
missense |
probably benign |
0.18 |
R1860:Slc26a3
|
UTSW |
12 |
31,515,845 (GRCm39) |
missense |
probably benign |
|
R1954:Slc26a3
|
UTSW |
12 |
31,500,815 (GRCm39) |
missense |
probably damaging |
0.98 |
R1967:Slc26a3
|
UTSW |
12 |
31,515,777 (GRCm39) |
missense |
probably damaging |
0.99 |
R2240:Slc26a3
|
UTSW |
12 |
31,507,071 (GRCm39) |
missense |
probably damaging |
1.00 |
R2508:Slc26a3
|
UTSW |
12 |
31,520,902 (GRCm39) |
missense |
probably damaging |
0.99 |
R3914:Slc26a3
|
UTSW |
12 |
31,503,905 (GRCm39) |
missense |
probably benign |
0.00 |
R3978:Slc26a3
|
UTSW |
12 |
31,515,859 (GRCm39) |
splice site |
probably null |
|
R4701:Slc26a3
|
UTSW |
12 |
31,497,773 (GRCm39) |
missense |
probably damaging |
1.00 |
R4713:Slc26a3
|
UTSW |
12 |
31,507,079 (GRCm39) |
missense |
possibly damaging |
0.75 |
R5024:Slc26a3
|
UTSW |
12 |
31,503,907 (GRCm39) |
missense |
probably benign |
|
R5058:Slc26a3
|
UTSW |
12 |
31,520,964 (GRCm39) |
missense |
possibly damaging |
0.66 |
R5168:Slc26a3
|
UTSW |
12 |
31,518,553 (GRCm39) |
missense |
possibly damaging |
0.81 |
R5361:Slc26a3
|
UTSW |
12 |
31,500,980 (GRCm39) |
critical splice donor site |
probably null |
|
R5715:Slc26a3
|
UTSW |
12 |
31,498,842 (GRCm39) |
critical splice donor site |
probably null |
|
R5951:Slc26a3
|
UTSW |
12 |
31,502,714 (GRCm39) |
intron |
probably benign |
|
R6662:Slc26a3
|
UTSW |
12 |
31,507,345 (GRCm39) |
nonsense |
probably null |
|
R6895:Slc26a3
|
UTSW |
12 |
31,513,523 (GRCm39) |
missense |
probably damaging |
0.96 |
R7069:Slc26a3
|
UTSW |
12 |
31,500,934 (GRCm39) |
missense |
probably damaging |
0.96 |
R7484:Slc26a3
|
UTSW |
12 |
31,497,787 (GRCm39) |
missense |
probably benign |
0.22 |
R7744:Slc26a3
|
UTSW |
12 |
31,513,464 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8192:Slc26a3
|
UTSW |
12 |
31,518,541 (GRCm39) |
missense |
probably benign |
0.05 |
R8327:Slc26a3
|
UTSW |
12 |
31,516,430 (GRCm39) |
missense |
possibly damaging |
0.81 |
R8356:Slc26a3
|
UTSW |
12 |
31,516,505 (GRCm39) |
missense |
probably benign |
0.06 |
R8371:Slc26a3
|
UTSW |
12 |
31,502,541 (GRCm39) |
missense |
probably damaging |
1.00 |
R8550:Slc26a3
|
UTSW |
12 |
31,511,739 (GRCm39) |
missense |
probably damaging |
1.00 |
R9057:Slc26a3
|
UTSW |
12 |
31,520,958 (GRCm39) |
missense |
probably benign |
0.00 |
R9221:Slc26a3
|
UTSW |
12 |
31,513,470 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9484:Slc26a3
|
UTSW |
12 |
31,511,785 (GRCm39) |
missense |
probably damaging |
0.98 |
R9746:Slc26a3
|
UTSW |
12 |
31,499,145 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ACACAGAGATAAGGTGTTTGCC -3'
(R):5'- AACCAATGTTTGCGAAGTAGATTGG -3'
Sequencing Primer
(F):5'- TCTAATGAGATGGAGATTCCCCC -3'
(R):5'- TTTGCGAAGTAGATTGGAGATGGAC -3'
|
Posted On |
2015-04-17 |