Incidental Mutation 'IGL01788:Slc13a1'
| ID |
155133 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc13a1
|
| Ensembl Gene |
ENSMUSG00000029700 |
| Gene Name |
solute carrier family 13 (sodium/sulfate symporters), member 1 |
| Synonyms |
Nas1, NaSi-1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.138)
|
| Stock # |
IGL01788
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
24088282-24168091 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 24134371 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Proline
at position 171
(T171P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031713
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031713]
|
| AlphaFold |
Q9JHI4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031713
AA Change: T171P
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000031713
Gene: ENSMUSG00000029700
AA Change: T171P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Na_sulph_symp
|
5 |
578 |
9.6e-101 |
PFAM |
|
Pfam:CitMHS
|
45 |
168 |
3.9e-14 |
PFAM |
|
Pfam:CitMHS
|
226 |
521 |
3.9e-16 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175985
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176692
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an apical membrane Na(+)-sulfate cotransporter involved in sulfate homeostasis in the kidney. Defects in this gene lead to many pathophysiologic problems. [provided by RefSeq, May 2016]
PHENOTYPE: Homozygous mutant mice exhibit hyposulfatemia, growth retardation, reduced female fertility, and spontaneous clonic seizures. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9230009I02Rik |
T |
G |
11: 50,982,542 (GRCm39) |
|
noncoding transcript |
Het |
| Acp6 |
A |
G |
3: 97,073,198 (GRCm39) |
T80A |
probably damaging |
Het |
| Adamtsl5 |
T |
C |
10: 80,180,757 (GRCm39) |
T102A |
probably benign |
Het |
| Adcy6 |
C |
A |
15: 98,494,400 (GRCm39) |
E812* |
probably null |
Het |
| Apol6 |
G |
A |
15: 76,935,216 (GRCm39) |
V162I |
possibly damaging |
Het |
| Atp6v1h |
T |
A |
1: 5,220,206 (GRCm39) |
M396K |
possibly damaging |
Het |
| B3gnt8 |
A |
G |
7: 25,328,613 (GRCm39) |
T348A |
probably damaging |
Het |
| Cgnl1 |
A |
G |
9: 71,562,672 (GRCm39) |
V869A |
probably benign |
Het |
| Dcaf5 |
A |
T |
12: 80,395,098 (GRCm39) |
I357N |
probably damaging |
Het |
| Dennd4a |
A |
G |
9: 64,749,903 (GRCm39) |
I165V |
probably benign |
Het |
| Dlgap2 |
T |
A |
8: 14,893,631 (GRCm39) |
I982K |
probably benign |
Het |
| Dop1a |
A |
T |
9: 86,413,772 (GRCm39) |
H1891L |
probably benign |
Het |
| Fhad1 |
A |
C |
4: 141,660,113 (GRCm39) |
S65R |
probably benign |
Het |
| Fn1 |
A |
G |
1: 71,652,996 (GRCm39) |
I1331T |
probably damaging |
Het |
| Fto |
A |
T |
8: 92,136,359 (GRCm39) |
Y211F |
probably benign |
Het |
| Gm3278 |
A |
C |
14: 16,080,370 (GRCm39) |
R60S |
probably benign |
Het |
| Ifna9 |
A |
G |
4: 88,510,097 (GRCm39) |
S176P |
probably damaging |
Het |
| Klk1 |
T |
C |
7: 43,878,407 (GRCm39) |
I189T |
probably benign |
Het |
| Mcph1 |
G |
A |
8: 18,682,419 (GRCm39) |
G519R |
probably damaging |
Het |
| Mcph1 |
G |
A |
8: 18,682,420 (GRCm39) |
G519E |
probably damaging |
Het |
| N4bp1 |
A |
T |
8: 87,587,624 (GRCm39) |
V438E |
probably benign |
Het |
| Ncapg |
T |
A |
5: 45,828,423 (GRCm39) |
V58E |
probably damaging |
Het |
| Nid2 |
T |
A |
14: 19,858,047 (GRCm39) |
S1054T |
probably damaging |
Het |
| Nlrp4a |
A |
T |
7: 26,153,492 (GRCm39) |
Y681F |
probably benign |
Het |
| Or4f57 |
T |
C |
2: 111,791,352 (GRCm39) |
D22G |
probably benign |
Het |
| Or4k15c |
A |
G |
14: 50,321,959 (GRCm39) |
Y60H |
probably damaging |
Het |
| Or52e19b |
C |
A |
7: 103,032,770 (GRCm39) |
M146I |
probably benign |
Het |
| Or5b94 |
G |
A |
19: 12,652,442 (GRCm39) |
R291K |
probably damaging |
Het |
| Papln |
A |
T |
12: 83,822,236 (GRCm39) |
T364S |
probably benign |
Het |
| Pcdh18 |
C |
A |
3: 49,710,371 (GRCm39) |
E315* |
probably null |
Het |
| Pmel |
G |
A |
10: 128,553,701 (GRCm39) |
R445Q |
probably damaging |
Het |
| Ppp1r12b |
C |
T |
1: 134,821,245 (GRCm39) |
V182I |
possibly damaging |
Het |
| Ptprn2 |
A |
G |
12: 116,864,607 (GRCm39) |
T541A |
probably damaging |
Het |
| Rbl1 |
A |
T |
2: 157,005,576 (GRCm39) |
N813K |
probably benign |
Het |
| Sash1 |
C |
A |
10: 8,609,410 (GRCm39) |
R713L |
probably benign |
Het |
| Slc18b1 |
G |
T |
10: 23,701,899 (GRCm39) |
E407D |
probably damaging |
Het |
| Slc2a6 |
G |
A |
2: 26,914,227 (GRCm39) |
Q297* |
probably null |
Het |
| Vmn1r209 |
T |
C |
13: 22,989,832 (GRCm39) |
H286R |
probably damaging |
Het |
| Vmn1r28 |
C |
A |
6: 58,242,522 (GRCm39) |
H122N |
probably benign |
Het |
| Wfs1 |
A |
G |
5: 37,125,980 (GRCm39) |
Y304H |
probably benign |
Het |
| Zfp512b |
A |
G |
2: 181,230,556 (GRCm39) |
S445P |
possibly damaging |
Het |
|
| Other mutations in Slc13a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00773:Slc13a1
|
APN |
6 |
24,118,016 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL01096:Slc13a1
|
APN |
6 |
24,104,076 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02028:Slc13a1
|
APN |
6 |
24,118,030 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02238:Slc13a1
|
APN |
6 |
24,103,482 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02525:Slc13a1
|
APN |
6 |
24,137,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02741:Slc13a1
|
APN |
6 |
24,150,707 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02894:Slc13a1
|
APN |
6 |
24,137,041 (GRCm39) |
splice site |
probably benign |
|
|
IGL03086:Slc13a1
|
APN |
6 |
24,118,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Liliput
|
UTSW |
6 |
24,108,194 (GRCm39) |
missense |
probably damaging |
0.97 |
|
munchkin
|
UTSW |
6 |
24,090,795 (GRCm39) |
nonsense |
probably null |
|
|
R0294:Slc13a1
|
UTSW |
6 |
24,090,779 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0419:Slc13a1
|
UTSW |
6 |
24,100,292 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1249:Slc13a1
|
UTSW |
6 |
24,133,649 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1401:Slc13a1
|
UTSW |
6 |
24,118,082 (GRCm39) |
splice site |
probably null |
|
|
R1868:Slc13a1
|
UTSW |
6 |
24,117,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2191:Slc13a1
|
UTSW |
6 |
24,134,396 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R2940:Slc13a1
|
UTSW |
6 |
24,090,779 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R3740:Slc13a1
|
UTSW |
6 |
24,134,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4326:Slc13a1
|
UTSW |
6 |
24,103,478 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4327:Slc13a1
|
UTSW |
6 |
24,103,478 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4389:Slc13a1
|
UTSW |
6 |
24,092,397 (GRCm39) |
splice site |
probably null |
|
|
R4520:Slc13a1
|
UTSW |
6 |
24,134,512 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4771:Slc13a1
|
UTSW |
6 |
24,100,339 (GRCm39) |
nonsense |
probably null |
|
|
R4883:Slc13a1
|
UTSW |
6 |
24,134,356 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5133:Slc13a1
|
UTSW |
6 |
24,103,428 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5213:Slc13a1
|
UTSW |
6 |
24,108,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5310:Slc13a1
|
UTSW |
6 |
24,134,373 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5504:Slc13a1
|
UTSW |
6 |
24,150,743 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5971:Slc13a1
|
UTSW |
6 |
24,133,656 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6214:Slc13a1
|
UTSW |
6 |
24,090,795 (GRCm39) |
nonsense |
probably null |
|
|
R6215:Slc13a1
|
UTSW |
6 |
24,090,795 (GRCm39) |
nonsense |
probably null |
|
|
R6526:Slc13a1
|
UTSW |
6 |
24,097,611 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6562:Slc13a1
|
UTSW |
6 |
24,150,792 (GRCm39) |
missense |
probably benign |
0.35 |
|
R6573:Slc13a1
|
UTSW |
6 |
24,137,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6902:Slc13a1
|
UTSW |
6 |
24,097,665 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7184:Slc13a1
|
UTSW |
6 |
24,092,311 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7536:Slc13a1
|
UTSW |
6 |
24,100,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7918:Slc13a1
|
UTSW |
6 |
24,118,065 (GRCm39) |
missense |
probably benign |
0.35 |
|
R8919:Slc13a1
|
UTSW |
6 |
24,108,194 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8971:Slc13a1
|
UTSW |
6 |
24,090,785 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9151:Slc13a1
|
UTSW |
6 |
24,097,662 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9163:Slc13a1
|
UTSW |
6 |
24,097,578 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9313:Slc13a1
|
UTSW |
6 |
24,108,203 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9594:Slc13a1
|
UTSW |
6 |
24,089,100 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9755:Slc13a1
|
UTSW |
6 |
24,134,407 (GRCm39) |
missense |
probably benign |
0.01 |
|
U15987:Slc13a1
|
UTSW |
6 |
24,133,656 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Slc13a1
|
UTSW |
6 |
24,133,694 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2014-02-04 |
Incidental Mutation