Incidental Mutation 'IGL01096:Slc13a1'
| ID |
51300 |
| 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 # |
IGL01096
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
24088282-24168091 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 24104076 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 322
(T322K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031713
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031713]
|
| AlphaFold |
Q9JHI4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031713
AA Change: T322K
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000031713
Gene: ENSMUSG00000029700
AA Change: T322K
| 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: ENSMUST00000174594
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177412
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg3 |
A |
T |
8: 95,766,221 (GRCm39) |
M351L |
possibly damaging |
Het |
| Alk |
T |
C |
17: 72,228,891 (GRCm39) |
K725E |
possibly damaging |
Het |
| Castor1 |
A |
C |
11: 4,171,850 (GRCm39) |
E309A |
probably damaging |
Het |
| Dspp |
T |
A |
5: 104,323,233 (GRCm39) |
H125Q |
possibly damaging |
Het |
| Elmo2 |
A |
T |
2: 165,138,907 (GRCm39) |
|
probably benign |
Het |
| Erg |
A |
G |
16: 95,190,912 (GRCm39) |
|
probably benign |
Het |
| Fam20c |
A |
G |
5: 138,794,910 (GRCm39) |
E513G |
possibly damaging |
Het |
| Gm9839 |
G |
T |
1: 32,559,917 (GRCm39) |
T55N |
possibly damaging |
Het |
| Gpd2 |
A |
T |
2: 57,228,879 (GRCm39) |
M228L |
probably damaging |
Het |
| Hp |
A |
T |
8: 110,302,033 (GRCm39) |
M305K |
probably benign |
Het |
| Ifng |
T |
A |
10: 118,281,174 (GRCm39) |
|
probably benign |
Het |
| Igkv9-123 |
T |
C |
6: 67,931,449 (GRCm39) |
D39G |
possibly damaging |
Het |
| Melk |
T |
A |
4: 44,347,262 (GRCm39) |
F431I |
probably benign |
Het |
| Or10ak12 |
A |
G |
4: 118,666,653 (GRCm39) |
V136A |
probably damaging |
Het |
| Or12j5 |
A |
T |
7: 140,084,097 (GRCm39) |
S92T |
probably damaging |
Het |
| Or4p19 |
A |
G |
2: 88,242,135 (GRCm39) |
M289T |
probably damaging |
Het |
| Or51k1 |
A |
C |
7: 103,661,321 (GRCm39) |
L196W |
probably damaging |
Het |
| Or8g27 |
G |
A |
9: 39,129,412 (GRCm39) |
G253D |
probably damaging |
Het |
| Pappa |
T |
C |
4: 65,107,553 (GRCm39) |
Y655H |
probably damaging |
Het |
| Prss58 |
A |
T |
6: 40,872,399 (GRCm39) |
I208N |
probably damaging |
Het |
| Ryr2 |
T |
A |
13: 11,718,430 (GRCm39) |
I2720F |
probably damaging |
Het |
| Spag17 |
T |
C |
3: 99,970,691 (GRCm39) |
F1292L |
probably benign |
Het |
| Tbx5 |
A |
G |
5: 120,021,091 (GRCm39) |
T366A |
probably benign |
Het |
| Tmeff2 |
G |
A |
1: 50,969,705 (GRCm39) |
|
probably benign |
Het |
| Tmem101 |
C |
A |
11: 102,045,378 (GRCm39) |
|
probably null |
Het |
| Tpp2 |
C |
A |
1: 44,000,048 (GRCm39) |
P389T |
probably damaging |
Het |
| Tyk2 |
A |
G |
9: 21,020,159 (GRCm39) |
Y1000H |
probably damaging |
Het |
| Ush2a |
C |
A |
1: 188,410,574 (GRCm39) |
N2407K |
probably damaging |
Het |
| Vmn1r94 |
C |
T |
7: 19,901,561 (GRCm39) |
V248I |
probably damaging |
Het |
| Vmn2r12 |
T |
A |
5: 109,234,125 (GRCm39) |
I696F |
probably damaging |
Het |
| Vmn2r83 |
A |
G |
10: 79,313,662 (GRCm39) |
E90G |
probably damaging |
Het |
| Washc5 |
T |
C |
15: 59,222,060 (GRCm39) |
|
probably benign |
Het |
| Wee2 |
A |
G |
6: 40,440,187 (GRCm39) |
E445G |
probably benign |
Het |
| Zfp518b |
T |
C |
5: 38,830,131 (GRCm39) |
T625A |
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 |
|
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 |
2013-06-21 |
Incidental Mutation