Incidental Mutation 'R3914:Slc26a3'
| ID |
309569 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc26a3
|
| Ensembl Gene |
ENSMUSG00000001225 |
| Gene Name |
solute carrier family 26, member 3 |
| Synonyms |
9130013M11Rik, 9030623B18Rik, Dra |
| MMRRC Submission |
040912-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.759)
|
| Stock # |
R3914 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
31483141-31523921 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 31503905 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 303
(E303D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001254
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001254]
[ENSMUST00000110854]
[ENSMUST00000167432]
[ENSMUST00000171616]
|
| AlphaFold |
Q9WVC8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001254
AA Change: E303D
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000001254
Gene: ENSMUSG00000001225
AA Change: E303D
| 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: ENSMUST00000110854
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165816
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167432
|
| SMART Domains |
Protein: ENSMUSP00000130676
Gene: ENSMUSG00000001225
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sulfate_tra_GLY
|
58 |
141 |
5.3e-31 |
PFAM |
|
Pfam:Sulfate_transp
|
186 |
235 |
8.9e-13 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168209
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171616
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
100% (36/36) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp8b2 |
A |
T |
3: 89,861,755 (GRCm39) |
I266N |
probably damaging |
Het |
| AU041133 |
G |
A |
10: 81,987,649 (GRCm39) |
R434Q |
probably damaging |
Het |
| Ccdc174 |
G |
T |
6: 91,876,338 (GRCm39) |
A392S |
possibly damaging |
Het |
| Cdh18 |
T |
C |
15: 23,410,771 (GRCm39) |
Y419H |
probably damaging |
Het |
| Col20a1 |
A |
G |
2: 180,640,285 (GRCm39) |
K509R |
probably benign |
Het |
| Csmd2 |
A |
T |
4: 128,215,117 (GRCm39) |
D513V |
probably benign |
Het |
| Disp1 |
A |
G |
1: 182,870,666 (GRCm39) |
F585L |
probably benign |
Het |
| Entpd7 |
G |
A |
19: 43,679,597 (GRCm39) |
R50Q |
probably benign |
Het |
| Exoc1 |
G |
A |
5: 76,691,408 (GRCm39) |
S244N |
possibly damaging |
Het |
| Fam234b |
A |
G |
6: 135,202,681 (GRCm39) |
D345G |
probably damaging |
Het |
| G530012D18Rik |
CAGAGAGA |
CAGAGAGAGA |
1: 85,504,945 (GRCm39) |
|
probably null |
Het |
| Gprc6a |
T |
A |
10: 51,504,371 (GRCm39) |
M158L |
probably benign |
Het |
| Hdc |
T |
C |
2: 126,444,926 (GRCm39) |
T255A |
probably damaging |
Het |
| Hps5 |
T |
C |
7: 46,432,950 (GRCm39) |
T257A |
probably damaging |
Het |
| Ice1 |
A |
G |
13: 70,754,203 (GRCm39) |
C628R |
probably benign |
Het |
| Igkv2-137 |
A |
T |
6: 67,532,968 (GRCm39) |
R44W |
probably damaging |
Het |
| Islr2 |
A |
T |
9: 58,105,666 (GRCm39) |
Y531* |
probably null |
Het |
| Mast4 |
G |
A |
13: 102,875,829 (GRCm39) |
R1112* |
probably null |
Het |
| Mrc2 |
T |
C |
11: 105,238,058 (GRCm39) |
|
probably benign |
Het |
| Myo19 |
G |
A |
11: 84,785,429 (GRCm39) |
R224H |
probably damaging |
Het |
| Nup58 |
A |
G |
14: 60,469,596 (GRCm39) |
M375T |
possibly damaging |
Het |
| Phaf1 |
A |
G |
8: 105,966,615 (GRCm39) |
N121D |
probably benign |
Het |
| Phldb2 |
T |
C |
16: 45,577,526 (GRCm39) |
E1133G |
probably damaging |
Het |
| Rabl6 |
T |
C |
2: 25,478,718 (GRCm39) |
T238A |
possibly damaging |
Het |
| Ranbp17 |
G |
A |
11: 33,429,189 (GRCm39) |
A352V |
probably benign |
Het |
| Riok3 |
A |
G |
18: 12,281,879 (GRCm39) |
I283V |
probably benign |
Het |
| Rrm1 |
A |
G |
7: 102,106,381 (GRCm39) |
Y300C |
probably damaging |
Het |
| Shoc1 |
T |
A |
4: 59,094,201 (GRCm39) |
R174S |
possibly damaging |
Het |
| Sipa1l3 |
T |
C |
7: 29,099,510 (GRCm39) |
D253G |
probably benign |
Het |
| Slc22a8 |
T |
A |
19: 8,585,550 (GRCm39) |
I305N |
probably damaging |
Het |
| Slc32a1 |
C |
T |
2: 158,453,152 (GRCm39) |
|
probably benign |
Het |
| Tars3 |
C |
A |
7: 65,333,556 (GRCm39) |
Q585K |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
| Ubqlnl |
A |
G |
7: 103,798,813 (GRCm39) |
V228A |
probably benign |
Het |
| Wnt7b |
T |
A |
15: 85,422,059 (GRCm39) |
D201V |
possibly damaging |
Het |
| Xpot |
A |
T |
10: 121,440,443 (GRCm39) |
I596N |
possibly 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 |
|
R3894:Slc26a3
|
UTSW |
12 |
31,514,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- GAAGTTCAGGATTTGATTCTCTCTTCC -3'
(R):5'- ACTCTTTGTAAGTGCCGGGG -3'
Sequencing Primer
(F):5'- ATCAAAAGTAGGTAGTTAGGTTTGGC -3'
(R):5'- GGATCCTGGCATTCTTTATGACTGC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation