Incidental Mutation 'IGL02741:Slc13a1'
ID |
305921 |
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 # |
IGL02741
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
24088282-24168091 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to T
at 24150707 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031713
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031713]
|
AlphaFold |
Q9JHI4 |
Predicted Effect |
probably null
Transcript: ENSMUST00000031713
|
SMART Domains |
Protein: ENSMUSP00000031713 Gene: ENSMUSG00000029700
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: 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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A930004D18Rik |
T |
C |
2: 18,032,007 (GRCm39) |
Y37C |
unknown |
Het |
Arhgap20 |
T |
A |
9: 51,759,945 (GRCm39) |
C599S |
probably benign |
Het |
Bcl6b |
C |
A |
11: 70,119,942 (GRCm39) |
R15L |
probably damaging |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Dchs1 |
C |
T |
7: 105,406,530 (GRCm39) |
D2262N |
probably damaging |
Het |
Dsg4 |
A |
G |
18: 20,604,553 (GRCm39) |
M1007V |
probably benign |
Het |
Fgd6 |
A |
G |
10: 93,959,152 (GRCm39) |
K1032R |
possibly damaging |
Het |
Fras1 |
T |
A |
5: 96,839,230 (GRCm39) |
M1583K |
probably benign |
Het |
Gjc3 |
A |
T |
5: 137,955,726 (GRCm39) |
C186* |
probably null |
Het |
Gm14496 |
A |
G |
2: 181,633,136 (GRCm39) |
R40G |
probably benign |
Het |
Ibtk |
T |
C |
9: 85,608,665 (GRCm39) |
R416G |
probably damaging |
Het |
Kcnc4 |
A |
G |
3: 107,355,294 (GRCm39) |
F385L |
probably damaging |
Het |
Mapk8ip2 |
T |
C |
15: 89,341,700 (GRCm39) |
S304P |
probably damaging |
Het |
Mbd6 |
A |
G |
10: 127,123,263 (GRCm39) |
|
probably null |
Het |
Mroh2b |
T |
C |
15: 4,935,114 (GRCm39) |
F183S |
probably benign |
Het |
Nrg1 |
T |
A |
8: 32,312,316 (GRCm39) |
T334S |
probably damaging |
Het |
Pigw |
C |
T |
11: 84,769,192 (GRCm39) |
V46I |
probably benign |
Het |
Pkdrej |
T |
C |
15: 85,701,631 (GRCm39) |
E1435G |
probably benign |
Het |
Pkhd1 |
T |
C |
1: 20,290,253 (GRCm39) |
|
probably benign |
Het |
Prkdc |
A |
T |
16: 15,570,590 (GRCm39) |
|
probably benign |
Het |
Ptprd |
A |
T |
4: 76,051,521 (GRCm39) |
I247N |
probably damaging |
Het |
Rfx1 |
A |
G |
8: 84,822,471 (GRCm39) |
Q923R |
possibly damaging |
Het |
Rgs11 |
G |
A |
17: 26,426,605 (GRCm39) |
V279I |
probably benign |
Het |
Rps6ka2 |
T |
A |
17: 7,563,415 (GRCm39) |
F608I |
probably benign |
Het |
Slc6a20b |
C |
T |
9: 123,436,667 (GRCm39) |
V249M |
probably damaging |
Het |
Slc9c1 |
A |
G |
16: 45,401,961 (GRCm39) |
I783V |
possibly damaging |
Het |
Swap70 |
G |
T |
7: 109,873,856 (GRCm39) |
M401I |
probably benign |
Het |
Tmco4 |
A |
T |
4: 138,757,188 (GRCm39) |
I407F |
probably damaging |
Het |
Trpm4 |
T |
A |
7: 44,967,912 (GRCm39) |
S340C |
possibly damaging |
Het |
Tsc2 |
T |
C |
17: 24,848,943 (GRCm39) |
E79G |
probably damaging |
Het |
Ubr1 |
A |
C |
2: 120,771,572 (GRCm39) |
S439A |
probably benign |
Het |
Vmn1r73 |
T |
C |
7: 11,490,710 (GRCm39) |
V176A |
probably benign |
Het |
Vmn2r17 |
G |
A |
5: 109,568,077 (GRCm39) |
D67N |
probably benign |
Het |
Wasf1 |
C |
T |
10: 40,806,705 (GRCm39) |
T116M |
probably damaging |
Het |
Zkscan3 |
A |
T |
13: 21,578,164 (GRCm39) |
M241K |
probably benign |
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 |
IGL01788:Slc13a1
|
APN |
6 |
24,134,371 (GRCm39) |
missense |
probably damaging |
0.96 |
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 |
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 |
2015-04-16 |