Incidental Mutation 'IGL00773:Slc13a1'
| ID |
14040 |
| 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 # |
IGL00773
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
24088282-24168091 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 24118016 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 240
(M240I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031713
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031713]
|
| AlphaFold |
Q9JHI4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031713
AA Change: M240I
PolyPhen 2
Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000031713
Gene: ENSMUSG00000029700
AA Change: M240I
| 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 |
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actc1 |
T |
C |
2: 113,878,594 (GRCm39) |
|
probably benign |
Het |
| Aff1 |
C |
T |
5: 103,931,943 (GRCm39) |
S195F |
probably damaging |
Het |
| Atm |
G |
T |
9: 53,433,444 (GRCm39) |
H269N |
probably benign |
Het |
| Cdc25c |
A |
T |
18: 34,880,294 (GRCm39) |
S147T |
probably benign |
Het |
| Cdnf |
A |
G |
2: 3,520,392 (GRCm39) |
D57G |
possibly damaging |
Het |
| Cep170 |
T |
C |
1: 176,582,965 (GRCm39) |
D1138G |
probably damaging |
Het |
| Cfap70 |
A |
G |
14: 20,497,602 (GRCm39) |
S51P |
probably damaging |
Het |
| Csmd3 |
A |
G |
15: 47,454,115 (GRCm39) |
M3577T |
probably damaging |
Het |
| Cyb5rl |
C |
T |
4: 106,941,493 (GRCm39) |
A246V |
probably benign |
Het |
| Dcaf1 |
T |
A |
9: 106,735,532 (GRCm39) |
S827T |
probably benign |
Het |
| Epha3 |
T |
A |
16: 63,387,047 (GRCm39) |
Q862L |
probably damaging |
Het |
| Gm57858 |
A |
G |
3: 36,089,486 (GRCm39) |
L146P |
probably damaging |
Het |
| Igsf10 |
A |
G |
3: 59,238,960 (GRCm39) |
V407A |
probably benign |
Het |
| Myh2 |
T |
C |
11: 67,085,247 (GRCm39) |
I1751T |
probably benign |
Het |
| Pcm1 |
T |
C |
8: 41,727,314 (GRCm39) |
L528P |
probably damaging |
Het |
| Pla2g7 |
T |
G |
17: 43,913,762 (GRCm39) |
I235S |
probably damaging |
Het |
| Plekhh2 |
C |
T |
17: 84,914,296 (GRCm39) |
T1233M |
probably benign |
Het |
| Ptpn21 |
C |
T |
12: 98,654,572 (GRCm39) |
M798I |
probably benign |
Het |
| Ptprz1 |
A |
G |
6: 23,002,628 (GRCm39) |
K1573E |
probably benign |
Het |
| Rassf6 |
C |
T |
5: 90,751,999 (GRCm39) |
V272M |
probably damaging |
Het |
| Rprd2 |
A |
T |
3: 95,672,421 (GRCm39) |
F994Y |
probably damaging |
Het |
| Slc22a6 |
A |
T |
19: 8,599,232 (GRCm39) |
I288F |
probably benign |
Het |
| Slc6a3 |
T |
A |
13: 73,692,860 (GRCm39) |
I160N |
probably damaging |
Het |
| Slfn10-ps |
T |
A |
11: 82,926,355 (GRCm39) |
|
noncoding transcript |
Het |
| Snx14 |
A |
T |
9: 88,276,592 (GRCm39) |
D564E |
probably damaging |
Het |
| Tceanc |
T |
A |
X: 165,285,857 (GRCm39) |
L179F |
probably benign |
Het |
| Tpm2 |
T |
C |
4: 43,518,251 (GRCm39) |
K251E |
probably damaging |
Het |
| Trpm2 |
T |
A |
10: 77,785,048 (GRCm39) |
R191* |
probably null |
Het |
| Trpm3 |
T |
A |
19: 22,877,523 (GRCm39) |
M602K |
possibly damaging |
Het |
| Zbtb21 |
A |
T |
16: 97,753,520 (GRCm39) |
D282E |
probably benign |
Het |
|
| Other mutations in Slc13a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2012-12-06 |
Incidental Mutation