Incidental Mutation 'R7744:Slc26a3'
| ID |
596751 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc26a3
|
| Ensembl Gene |
ENSMUSG00000001225 |
| Gene Name |
solute carrier family 26, member 3 |
| Synonyms |
9130013M11Rik, 9030623B18Rik, Dra |
| MMRRC Submission |
045800-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.759)
|
| Stock # |
R7744 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
31483141-31523921 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
A to T
at 31513464 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001254
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001254]
[ENSMUST00000001254]
[ENSMUST00000001254]
[ENSMUST00000171616]
|
| AlphaFold |
Q9WVC8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000001254
|
| SMART Domains |
Protein: ENSMUSP00000001254
Gene: ENSMUSG00000001225
| 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 null
Transcript: ENSMUST00000001254
|
| SMART Domains |
Protein: ENSMUSP00000001254
Gene: ENSMUSG00000001225
| 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 null
Transcript: ENSMUST00000001254
|
| SMART Domains |
Protein: ENSMUSP00000001254
Gene: ENSMUSG00000001225
| 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
|
| Meta Mutation Damage Score |
0.9463 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (55/55) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,240,421 (GRCm39) |
N761K |
possibly damaging |
Het |
| Abi2 |
A |
G |
1: 60,476,362 (GRCm39) |
I145V |
probably benign |
Het |
| Ampd2 |
C |
A |
3: 107,987,432 (GRCm39) |
V134L |
probably benign |
Het |
| Atf7ip2 |
T |
A |
16: 10,059,522 (GRCm39) |
V354E |
possibly damaging |
Het |
| Bglap |
T |
C |
3: 88,290,958 (GRCm39) |
Y91C |
probably damaging |
Het |
| Cacna1e |
A |
T |
1: 154,341,538 (GRCm39) |
S1219T |
probably damaging |
Het |
| Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
| Cd177 |
A |
G |
7: 24,449,800 (GRCm39) |
C562R |
probably damaging |
Het |
| Cfap57 |
C |
T |
4: 118,472,128 (GRCm39) |
V84I |
probably benign |
Het |
| Chd7 |
T |
A |
4: 8,862,485 (GRCm39) |
|
probably null |
Het |
| Dyrk3 |
A |
G |
1: 131,057,543 (GRCm39) |
V210A |
probably damaging |
Het |
| Eif3c |
C |
A |
7: 126,158,066 (GRCm39) |
G297W |
probably damaging |
Het |
| Eml1 |
A |
G |
12: 108,482,863 (GRCm39) |
H494R |
probably benign |
Het |
| Enpp2 |
A |
T |
15: 54,764,629 (GRCm39) |
|
probably null |
Het |
| Fbxw21 |
C |
A |
9: 108,986,720 (GRCm39) |
C53F |
possibly damaging |
Het |
| Fndc3a |
C |
A |
14: 72,799,156 (GRCm39) |
G609V |
possibly damaging |
Het |
| Grid1 |
A |
G |
14: 35,172,036 (GRCm39) |
D514G |
probably damaging |
Het |
| Gxylt2 |
T |
C |
6: 100,760,278 (GRCm39) |
V271A |
probably damaging |
Het |
| Hes1 |
A |
G |
16: 29,884,997 (GRCm39) |
K74R |
probably damaging |
Het |
| Igsf9 |
A |
G |
1: 172,319,752 (GRCm39) |
N349S |
probably benign |
Het |
| Isx |
T |
A |
8: 75,600,285 (GRCm39) |
I6N |
possibly damaging |
Het |
| Kcnb1 |
A |
T |
2: 167,030,251 (GRCm39) |
F98Y |
probably damaging |
Het |
| Kif1b |
G |
C |
4: 149,321,532 (GRCm39) |
T1129R |
possibly damaging |
Het |
| Klra10 |
T |
A |
6: 130,249,724 (GRCm39) |
|
probably null |
Het |
| Mcm10 |
A |
T |
2: 4,996,253 (GRCm39) |
L870Q |
probably damaging |
Het |
| Mettl16 |
T |
A |
11: 74,693,829 (GRCm39) |
I280K |
probably benign |
Het |
| Mre11a |
G |
A |
9: 14,721,128 (GRCm39) |
R349Q |
possibly damaging |
Het |
| Mrpl10 |
C |
T |
11: 96,935,402 (GRCm39) |
T34I |
probably damaging |
Het |
| Muc16 |
T |
A |
9: 18,496,392 (GRCm39) |
|
probably null |
Het |
| Myt1l |
T |
C |
12: 29,877,548 (GRCm39) |
C400R |
unknown |
Het |
| Nbr1 |
C |
T |
11: 101,460,210 (GRCm39) |
T402M |
probably damaging |
Het |
| Ndufs1 |
A |
G |
1: 63,200,099 (GRCm39) |
M271T |
possibly damaging |
Het |
| Or10q1 |
A |
G |
19: 13,727,419 (GRCm39) |
*316W |
probably null |
Het |
| Or4c29 |
C |
T |
2: 88,740,003 (GRCm39) |
V245I |
possibly damaging |
Het |
| Or51f23c-ps1 |
G |
T |
7: 102,431,597 (GRCm39) |
V305L |
probably benign |
Het |
| Pakap |
T |
C |
4: 57,709,519 (GRCm39) |
S155P |
probably damaging |
Het |
| Pced1a |
C |
T |
2: 130,263,972 (GRCm39) |
D227N |
probably damaging |
Het |
| Phf21b |
A |
G |
15: 84,689,070 (GRCm39) |
I152T |
probably damaging |
Het |
| Pla2g4a |
A |
G |
1: 149,736,853 (GRCm39) |
V430A |
probably benign |
Het |
| Plbd1 |
T |
C |
6: 136,594,244 (GRCm39) |
E335G |
probably benign |
Het |
| Plce1 |
G |
A |
19: 38,608,899 (GRCm39) |
V403M |
possibly damaging |
Het |
| Pnpla6 |
T |
A |
8: 3,581,677 (GRCm39) |
N642K |
probably benign |
Het |
| Ptprb |
T |
C |
10: 116,113,389 (GRCm39) |
I123T |
probably benign |
Het |
| Rab3il1 |
T |
A |
19: 10,005,641 (GRCm39) |
|
probably null |
Het |
| Ranbp3 |
C |
T |
17: 57,015,219 (GRCm39) |
T307M |
possibly damaging |
Het |
| Rasgrp2 |
T |
C |
19: 6,455,031 (GRCm39) |
S254P |
probably damaging |
Het |
| Rgl3 |
T |
C |
9: 21,898,866 (GRCm39) |
K191R |
probably benign |
Het |
| Rnf223 |
G |
A |
4: 156,216,982 (GRCm39) |
R119H |
probably benign |
Het |
| Sapcd2 |
C |
T |
2: 25,263,508 (GRCm39) |
P217S |
unknown |
Het |
| Setd7 |
C |
T |
3: 51,434,261 (GRCm39) |
|
probably null |
Het |
| Sh3bp1 |
A |
C |
15: 78,794,209 (GRCm39) |
T526P |
possibly damaging |
Het |
| Slc17a4 |
C |
A |
13: 24,085,767 (GRCm39) |
W382L |
probably benign |
Het |
| Tmem129 |
A |
G |
5: 33,811,732 (GRCm39) |
L356P |
probably damaging |
Het |
| Trib1 |
T |
A |
15: 59,526,512 (GRCm39) |
Y361N |
probably benign |
Het |
| Xirp1 |
T |
A |
9: 119,845,912 (GRCm39) |
R990S |
possibly damaging |
Het |
| Zfp950 |
A |
C |
19: 61,116,010 (GRCm39) |
|
probably null |
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 |
|
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'- ACTGCCTGTAGAGCCTATCC -3'
(R):5'- GCTCTCCTAATTGGGCAGATC -3'
Sequencing Primer
(F):5'- AGAGCCTATCCGTTTACTTGCTTGAG -3'
(R):5'- CCTAATTGGGCAGATCAAAGTCTGC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation