Incidental Mutation 'R8327:Slc26a3'
| ID |
644172 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc26a3
|
| Ensembl Gene |
ENSMUSG00000001225 |
| Gene Name |
solute carrier family 26, member 3 |
| Synonyms |
9130013M11Rik, 9030623B18Rik, Dra |
| MMRRC Submission |
067858-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.770)
|
| Stock # |
R8327 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
31483141-31523921 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 31516430 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 596
(D596G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001254
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001254]
[ENSMUST00000171616]
|
| AlphaFold |
Q9WVC8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000001254
AA Change: D596G
PolyPhen 2
Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000001254
Gene: ENSMUSG00000001225
AA Change: D596G
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
T |
A |
5: 113,331,685 (GRCm39) |
D843V |
possibly damaging |
Het |
| 6330409D20Rik |
T |
A |
2: 32,627,623 (GRCm39) |
Q111L |
unknown |
Het |
| Abcc5 |
C |
A |
16: 20,241,068 (GRCm39) |
R39L |
probably benign |
Het |
| Acbd3 |
C |
A |
1: 180,566,158 (GRCm39) |
Q284K |
probably damaging |
Het |
| Adgrv1 |
C |
T |
13: 81,593,462 (GRCm39) |
R4175H |
probably damaging |
Het |
| Ankrd27 |
T |
C |
7: 35,300,985 (GRCm39) |
L95P |
probably damaging |
Het |
| Apc2 |
T |
G |
10: 80,137,764 (GRCm39) |
D68E |
probably damaging |
Het |
| Apob |
A |
T |
12: 8,051,015 (GRCm39) |
I1093F |
possibly damaging |
Het |
| Arid2 |
T |
A |
15: 96,260,485 (GRCm39) |
D411E |
probably damaging |
Het |
| Astn1 |
T |
A |
1: 158,436,850 (GRCm39) |
Y811N |
probably damaging |
Het |
| Calhm5 |
A |
C |
10: 33,972,064 (GRCm39) |
F124V |
probably damaging |
Het |
| Ccdc187 |
T |
C |
2: 26,170,630 (GRCm39) |
H616R |
probably benign |
Het |
| Ccdc198 |
C |
T |
14: 49,470,356 (GRCm39) |
G197S |
possibly damaging |
Het |
| Clca4b |
T |
C |
3: 144,627,762 (GRCm39) |
Y403C |
possibly damaging |
Het |
| Dagla |
C |
T |
19: 10,228,451 (GRCm39) |
V656I |
probably benign |
Het |
| Dguok |
A |
C |
6: 83,464,061 (GRCm39) |
W166G |
probably damaging |
Het |
| Dlg5 |
G |
A |
14: 24,196,388 (GRCm39) |
A1603V |
probably damaging |
Het |
| Fanca |
G |
A |
8: 124,039,984 (GRCm39) |
Q138* |
probably null |
Het |
| Fbxl19 |
T |
A |
7: 127,347,520 (GRCm39) |
C25* |
probably null |
Het |
| Gm49383 |
C |
A |
12: 69,243,643 (GRCm39) |
E79* |
probably null |
Het |
| Lcor |
C |
T |
19: 41,570,996 (GRCm39) |
S63L |
probably damaging |
Het |
| Lrp2 |
T |
C |
2: 69,322,268 (GRCm39) |
Y1887C |
probably damaging |
Het |
| Mast3 |
T |
C |
8: 71,232,062 (GRCm39) |
D1305G |
probably damaging |
Het |
| Mreg |
C |
A |
1: 72,203,257 (GRCm39) |
R107L |
possibly damaging |
Het |
| Nbn |
T |
A |
4: 15,981,470 (GRCm39) |
S521T |
probably benign |
Het |
| Nxpe2 |
C |
A |
9: 48,231,059 (GRCm39) |
V437L |
probably benign |
Het |
| Or2t49 |
T |
C |
11: 58,392,942 (GRCm39) |
M153V |
probably benign |
Het |
| Or51s1 |
A |
T |
7: 102,558,926 (GRCm39) |
I40N |
probably damaging |
Het |
| Or8c13 |
T |
C |
9: 38,091,186 (GRCm39) |
E311G |
possibly damaging |
Het |
| Pcdhb5 |
A |
C |
18: 37,453,953 (GRCm39) |
K111T |
probably benign |
Het |
| Pi4kb |
A |
G |
3: 94,906,192 (GRCm39) |
I580V |
probably benign |
Het |
| Plaat3 |
T |
C |
19: 7,556,514 (GRCm39) |
L105P |
probably benign |
Het |
| Rbm15b |
A |
G |
9: 106,761,646 (GRCm39) |
S841P |
probably benign |
Het |
| Reep2 |
A |
G |
18: 34,975,566 (GRCm39) |
N31S |
probably damaging |
Het |
| Scmh1 |
C |
T |
4: 120,379,699 (GRCm39) |
H505Y |
probably benign |
Het |
| Setd1a |
T |
A |
7: 127,390,669 (GRCm39) |
L1115H |
unknown |
Het |
| Smg5 |
G |
T |
3: 88,252,714 (GRCm39) |
A167S |
probably damaging |
Het |
| Supv3l1 |
T |
C |
10: 62,277,004 (GRCm39) |
T255A |
probably damaging |
Het |
| Synrg |
G |
A |
11: 83,899,731 (GRCm39) |
A568T |
probably benign |
Het |
| Tmem132a |
G |
T |
19: 10,836,311 (GRCm39) |
P740T |
probably benign |
Het |
| Tmem181a |
T |
C |
17: 6,351,680 (GRCm39) |
L353P |
probably damaging |
Het |
| Tubgcp3 |
T |
C |
8: 12,704,343 (GRCm39) |
E242G |
probably benign |
Het |
| Vmn2r77 |
A |
T |
7: 86,450,680 (GRCm39) |
T189S |
probably benign |
Het |
| Zfp638 |
T |
G |
6: 83,905,679 (GRCm39) |
L44W |
probably damaging |
Het |
| Zfp715 |
G |
A |
7: 42,947,482 (GRCm39) |
T826I |
possibly damaging |
Het |
| Zfp865 |
G |
A |
7: 5,034,058 (GRCm39) |
S681N |
probably benign |
Het |
| Zscan5b |
C |
T |
7: 6,236,946 (GRCm39) |
P232S |
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 |
|
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 |
|
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'- TGGTCCTGGGAAAAGTATCAAAAGC -3'
(R):5'- ACAAATTACCGTTCTGAGGCCC -3'
Sequencing Primer
(F):5'- CTGGGAAAAGTATCAAAAGCAAATAG -3'
(R):5'- TGAGGCCCCTCATTGAGG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation