Incidental Mutation 'R8550:Slc26a3'
| ID |
659834 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc26a3
|
| Ensembl Gene |
ENSMUSG00000001225 |
| Gene Name |
solute carrier family 26, member 3 |
| Synonyms |
9130013M11Rik, 9030623B18Rik, Dra |
| MMRRC Submission |
068515-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.770)
|
| Stock # |
R8550 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
31483141-31523921 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 31511739 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 441
(L441F)
|
| 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: L441F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000001254
Gene: ENSMUSG00000001225
AA Change: L441F
| 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: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (39/39) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930402F06Rik |
T |
A |
2: 35,265,786 (GRCm39) |
K295* |
probably null |
Het |
| AB124611 |
A |
T |
9: 21,451,882 (GRCm39) |
D146V |
probably damaging |
Het |
| Adgrl3 |
A |
T |
5: 81,942,599 (GRCm39) |
T1469S |
possibly damaging |
Het |
| Anxa7 |
G |
A |
14: 20,506,593 (GRCm39) |
T449M |
probably damaging |
Het |
| Birc6 |
T |
G |
17: 74,864,949 (GRCm39) |
S236R |
probably benign |
Het |
| C1qc |
C |
T |
4: 136,617,587 (GRCm39) |
V170I |
possibly damaging |
Het |
| Ccl25 |
A |
G |
8: 4,377,890 (GRCm39) |
E50G |
possibly damaging |
Het |
| Clk1 |
A |
T |
1: 58,451,835 (GRCm39) |
Y427N |
probably damaging |
Het |
| Cul9 |
C |
A |
17: 46,830,772 (GRCm39) |
C1707F |
probably damaging |
Het |
| Cyp4f17 |
G |
A |
17: 32,746,936 (GRCm39) |
V413I |
probably benign |
Het |
| Ddc |
A |
G |
11: 11,785,743 (GRCm39) |
W315R |
probably damaging |
Het |
| Degs1l |
A |
T |
1: 180,887,324 (GRCm39) |
D303V |
probably damaging |
Het |
| Eif1ad15 |
T |
C |
12: 88,290,652 (GRCm39) |
|
probably benign |
Het |
| Eogt |
A |
C |
6: 97,089,033 (GRCm39) |
H524Q |
probably benign |
Het |
| Eya4 |
G |
A |
10: 22,982,157 (GRCm39) |
H601Y |
probably damaging |
Het |
| Hexa |
G |
A |
9: 59,468,182 (GRCm39) |
A270T |
probably benign |
Het |
| Hmcn2 |
T |
C |
2: 31,240,654 (GRCm39) |
|
probably null |
Het |
| Ighv5-17 |
A |
T |
12: 113,822,904 (GRCm39) |
S72R |
possibly damaging |
Het |
| Itgad |
A |
G |
7: 127,803,064 (GRCm39) |
T7A |
probably damaging |
Het |
| Mapk8 |
A |
T |
14: 33,124,615 (GRCm39) |
I139N |
probably damaging |
Het |
| Metap1 |
G |
A |
3: 138,172,077 (GRCm39) |
A280V |
possibly damaging |
Het |
| Mrpl35 |
T |
C |
6: 71,793,259 (GRCm39) |
K131E |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,188,924 (GRCm39) |
V802A |
probably benign |
Het |
| Nlrp3 |
T |
G |
11: 59,440,097 (GRCm39) |
V558G |
probably damaging |
Het |
| Nr3c1 |
A |
T |
18: 39,619,842 (GRCm39) |
N148K |
possibly damaging |
Het |
| Or3a1c |
A |
C |
11: 74,046,015 (GRCm39) |
I12L |
probably benign |
Het |
| Padi6 |
T |
C |
4: 140,460,014 (GRCm39) |
K359R |
probably benign |
Het |
| Rexo5 |
A |
G |
7: 119,400,568 (GRCm39) |
T118A |
probably benign |
Het |
| Serpine1 |
A |
G |
5: 137,092,352 (GRCm39) |
V385A |
probably damaging |
Het |
| Slc25a25 |
A |
G |
2: 32,306,205 (GRCm39) |
I485T |
probably damaging |
Het |
| Spta1 |
A |
T |
1: 174,014,774 (GRCm39) |
D418V |
probably damaging |
Het |
| Supt20 |
T |
C |
3: 54,623,063 (GRCm39) |
V511A |
possibly damaging |
Het |
| Tfap2a |
T |
C |
13: 40,882,225 (GRCm39) |
T21A |
probably damaging |
Het |
| Tia1 |
A |
G |
6: 86,402,684 (GRCm39) |
M232V |
probably benign |
Het |
| Tmem132a |
T |
C |
19: 10,837,745 (GRCm39) |
T522A |
probably benign |
Het |
| Top2a |
A |
T |
11: 98,886,744 (GRCm39) |
D1336E |
probably benign |
Het |
| Trav3-1 |
A |
C |
14: 52,818,390 (GRCm39) |
R21S |
probably benign |
Het |
| Utrn |
C |
A |
10: 12,689,329 (GRCm39) |
|
probably benign |
Het |
| Vmn1r119 |
A |
T |
7: 20,745,980 (GRCm39) |
V134D |
probably benign |
Het |
| Zfta |
T |
C |
19: 7,400,320 (GRCm39) |
M262T |
probably benign |
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 |
|
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 |
|
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'- CATTGCACACCAGAAAAGGG -3'
(R):5'- TTCCAGGTAATGATCAGTAGAGC -3'
Sequencing Primer
(F):5'- AAAGGGCGAGTCCTTCCATACG -3'
(R):5'- TACAGTTATCACAAACAGCGAGG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation