Incidental Mutation 'IGL02151:Slc26a3'
| ID |
282003 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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: 0.759)
|
| Stock # |
IGL02151
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
31483141-31523921 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 31497830 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 78
(V78A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130676
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001254]
[ENSMUST00000110854]
[ENSMUST00000167432]
[ENSMUST00000171616]
|
| AlphaFold |
Q9WVC8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001254
AA Change: V78A
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000001254
Gene: ENSMUSG00000001225
AA Change: V78A
| 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 damaging
Transcript: ENSMUST00000167432
AA Change: V78A
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000130676
Gene: ENSMUSG00000001225
AA Change: V78A
| 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
|
| Coding Region Coverage |
|
| 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 |
|---|
| Adgra3 |
G |
T |
5: 50,136,484 (GRCm39) |
T667N |
probably benign |
Het |
| Aff4 |
T |
C |
11: 53,290,633 (GRCm39) |
I531T |
probably benign |
Het |
| Akap9 |
C |
T |
5: 4,082,728 (GRCm39) |
Q1951* |
probably null |
Het |
| Arhgef10 |
C |
T |
8: 14,978,889 (GRCm39) |
T52M |
possibly damaging |
Het |
| Atg2a |
A |
G |
19: 6,305,787 (GRCm39) |
E1132G |
possibly damaging |
Het |
| AW551984 |
A |
C |
9: 39,504,241 (GRCm39) |
I575S |
probably benign |
Het |
| Cfap299 |
C |
T |
5: 98,477,301 (GRCm39) |
T24M |
probably damaging |
Het |
| Cog7 |
T |
C |
7: 121,543,031 (GRCm39) |
E460G |
probably damaging |
Het |
| Ctse |
A |
G |
1: 131,600,273 (GRCm39) |
I341V |
probably benign |
Het |
| Dcpp1 |
A |
T |
17: 24,101,568 (GRCm39) |
I106L |
possibly damaging |
Het |
| Dcxr |
T |
A |
11: 120,616,809 (GRCm39) |
M158L |
probably benign |
Het |
| Dnah11 |
A |
T |
12: 118,023,623 (GRCm39) |
|
probably benign |
Het |
| Dnah7a |
T |
A |
1: 53,512,023 (GRCm39) |
I3013F |
probably benign |
Het |
| Dnah8 |
A |
G |
17: 30,867,391 (GRCm39) |
D281G |
possibly damaging |
Het |
| Dpysl3 |
G |
A |
18: 43,491,365 (GRCm39) |
H136Y |
probably damaging |
Het |
| Eaf1 |
C |
T |
14: 31,219,744 (GRCm39) |
T61M |
probably damaging |
Het |
| Fmnl1 |
A |
G |
11: 103,083,598 (GRCm39) |
T441A |
probably benign |
Het |
| Hmgcll1 |
C |
T |
9: 75,988,720 (GRCm39) |
P197L |
probably benign |
Het |
| Kdm4b |
T |
C |
17: 56,703,234 (GRCm39) |
V643A |
probably benign |
Het |
| Lrch2 |
A |
G |
X: 146,336,716 (GRCm39) |
F111L |
possibly damaging |
Het |
| Macf1 |
A |
T |
4: 123,265,559 (GRCm39) |
|
probably benign |
Het |
| Mfsd4b2 |
T |
C |
10: 39,797,687 (GRCm39) |
N223D |
probably damaging |
Het |
| Mug1 |
G |
A |
6: 121,861,649 (GRCm39) |
|
probably null |
Het |
| Nek7 |
A |
T |
1: 138,414,838 (GRCm39) |
L270Q |
probably damaging |
Het |
| Nexn |
T |
A |
3: 151,953,881 (GRCm39) |
D127V |
probably damaging |
Het |
| Nxf3 |
A |
G |
X: 134,980,322 (GRCm39) |
F130S |
probably damaging |
Het |
| Or11a4 |
T |
A |
17: 37,536,057 (GRCm39) |
F14I |
probably damaging |
Het |
| Or52ac1 |
A |
G |
7: 104,245,741 (GRCm39) |
S216P |
probably damaging |
Het |
| Pcdhb16 |
G |
A |
18: 37,611,411 (GRCm39) |
V124I |
possibly damaging |
Het |
| Podxl |
T |
C |
6: 31,501,394 (GRCm39) |
D387G |
possibly damaging |
Het |
| Prp2rt |
T |
A |
13: 97,235,682 (GRCm39) |
T22S |
probably null |
Het |
| Rab3d |
C |
A |
9: 21,827,020 (GRCm39) |
R70M |
probably damaging |
Het |
| Ripk2 |
A |
T |
4: 16,139,240 (GRCm39) |
M219K |
possibly damaging |
Het |
| Rnf146 |
A |
G |
10: 29,223,349 (GRCm39) |
V179A |
probably damaging |
Het |
| Robo1 |
G |
T |
16: 72,786,504 (GRCm39) |
V839L |
probably benign |
Het |
| Rttn |
T |
A |
18: 89,038,329 (GRCm39) |
N808K |
probably damaging |
Het |
| Slc12a3 |
T |
G |
8: 95,075,220 (GRCm39) |
V738G |
probably benign |
Het |
| Slc26a9 |
G |
A |
1: 131,691,781 (GRCm39) |
V675M |
probably damaging |
Het |
| Sncb |
T |
A |
13: 54,910,509 (GRCm39) |
I76F |
probably benign |
Het |
| Stat4 |
G |
A |
1: 52,053,029 (GRCm39) |
R70H |
probably damaging |
Het |
| Tle6 |
T |
C |
10: 81,434,474 (GRCm39) |
M42V |
probably benign |
Het |
| Tmem67 |
T |
C |
4: 12,068,882 (GRCm39) |
T439A |
probably benign |
Het |
| Ugt2b35 |
C |
A |
5: 87,151,141 (GRCm39) |
T249K |
possibly damaging |
Het |
| Vmn1r231 |
C |
T |
17: 21,109,997 (GRCm39) |
R306K |
probably benign |
Het |
| Vmn1r42 |
A |
T |
6: 89,822,023 (GRCm39) |
I182N |
possibly damaging |
Het |
| Zfhx3 |
T |
C |
8: 109,520,515 (GRCm39) |
S546P |
probably damaging |
Het |
| Zic3 |
G |
T |
X: 57,076,899 (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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation