Incidental Mutation 'IGL02374:Slc26a3'
| ID |
291047 |
| 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 # |
IGL02374
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
31483141-31523921 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 31520832 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128722
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001254]
[ENSMUST00000171616]
|
| AlphaFold |
Q9WVC8 |
| Predicted Effect |
probably benign
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 |
noncoding transcript
Transcript: ENSMUST00000109275
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arl5b |
T |
C |
2: 15,073,003 (GRCm39) |
Y35H |
probably damaging |
Het |
| Cnksr3 |
A |
G |
10: 7,070,335 (GRCm39) |
S300P |
probably damaging |
Het |
| Col27a1 |
T |
C |
4: 63,211,486 (GRCm39) |
S1013P |
possibly damaging |
Het |
| Cyp39a1 |
A |
G |
17: 44,060,872 (GRCm39) |
|
probably benign |
Het |
| Deptor |
G |
T |
15: 55,044,357 (GRCm39) |
L174F |
probably damaging |
Het |
| Fah |
T |
C |
7: 84,254,909 (GRCm39) |
E8G |
probably benign |
Het |
| Fastk |
C |
A |
5: 24,649,247 (GRCm39) |
A47S |
possibly damaging |
Het |
| Foxl2 |
C |
T |
9: 98,837,885 (GRCm39) |
L58F |
probably damaging |
Het |
| Gm57858 |
T |
C |
3: 36,074,108 (GRCm39) |
Q347R |
possibly damaging |
Het |
| Igf2bp2 |
G |
T |
16: 21,900,618 (GRCm39) |
H106Q |
probably benign |
Het |
| Igkv12-47 |
T |
C |
6: 69,727,959 (GRCm39) |
T71A |
probably benign |
Het |
| Ino80d |
T |
C |
1: 63,125,220 (GRCm39) |
I81V |
possibly damaging |
Het |
| Ints9 |
G |
A |
14: 65,276,782 (GRCm39) |
E650K |
probably benign |
Het |
| Klc2 |
T |
C |
19: 5,160,438 (GRCm39) |
N408S |
possibly damaging |
Het |
| Klhl32 |
A |
T |
4: 24,743,856 (GRCm39) |
|
probably null |
Het |
| Ksr1 |
C |
T |
11: 78,919,317 (GRCm39) |
G504D |
probably benign |
Het |
| Lonp2 |
C |
A |
8: 87,435,673 (GRCm39) |
D636E |
probably damaging |
Het |
| Lpin3 |
G |
A |
2: 160,737,758 (GRCm39) |
|
probably benign |
Het |
| Mcmdc2 |
C |
T |
1: 9,982,207 (GRCm39) |
A56V |
possibly damaging |
Het |
| Or10al7 |
A |
T |
17: 38,366,412 (GRCm39) |
V24D |
probably damaging |
Het |
| Or4p8 |
A |
T |
2: 88,727,803 (GRCm39) |
I46N |
probably damaging |
Het |
| Pex1 |
T |
C |
5: 3,685,481 (GRCm39) |
I1163T |
probably benign |
Het |
| Ppp1r3a |
C |
T |
6: 14,718,599 (GRCm39) |
V772I |
probably damaging |
Het |
| Ptbp2 |
A |
T |
3: 119,514,342 (GRCm39) |
|
probably benign |
Het |
| Rell1 |
A |
T |
5: 64,095,151 (GRCm39) |
I105K |
possibly damaging |
Het |
| Sis |
A |
T |
3: 72,832,789 (GRCm39) |
S1003T |
probably benign |
Het |
| Stap1 |
G |
A |
5: 86,244,410 (GRCm39) |
G264R |
probably damaging |
Het |
| Tmem176b |
T |
C |
6: 48,811,560 (GRCm39) |
N30D |
possibly damaging |
Het |
| Tmprss15 |
A |
T |
16: 78,832,056 (GRCm39) |
Y367N |
probably benign |
Het |
| Ttc41 |
A |
G |
10: 86,611,815 (GRCm39) |
D1061G |
probably damaging |
Het |
| Ufl1 |
A |
C |
4: 25,259,237 (GRCm39) |
D460E |
probably benign |
Het |
| Vmn2r104 |
T |
C |
17: 20,263,048 (GRCm39) |
I138V |
probably benign |
Het |
| Wdfy2 |
T |
C |
14: 63,171,833 (GRCm39) |
S194P |
probably benign |
Het |
| Zfp408 |
A |
C |
2: 91,476,156 (GRCm39) |
C333G |
probably damaging |
Het |
| Zfp592 |
T |
C |
7: 80,674,731 (GRCm39) |
V565A |
probably 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 |
|
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