Incidental Mutation 'R3740:Slc13a1'
| ID |
270338 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc13a1
|
| Ensembl Gene |
ENSMUSG00000029700 |
| Gene Name |
solute carrier family 13 (sodium/sulfate symporters), member 1 |
| Synonyms |
Nas1, NaSi-1 |
| MMRRC Submission |
040726-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R3740 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
24088282-24168091 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 24134476 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 136
(M136V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031713
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031713]
|
| AlphaFold |
Q9JHI4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031713
AA Change: M136V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000031713
Gene: ENSMUSG00000029700
AA Change: M136V
| 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
|
| Meta Mutation Damage Score |
0.7579 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
94% (29/31) |
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
T |
C |
1: 25,865,535 (GRCm39) |
R103G |
probably benign |
Het |
| Atp8b2 |
C |
G |
3: 89,853,338 (GRCm39) |
A726P |
probably benign |
Het |
| Bbox1 |
A |
G |
2: 110,135,922 (GRCm39) |
I19T |
possibly damaging |
Het |
| Ctso |
G |
A |
3: 81,859,556 (GRCm39) |
V288I |
probably benign |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Fam135a |
A |
T |
1: 24,053,892 (GRCm39) |
M1215K |
probably damaging |
Het |
| Fam174b |
T |
C |
7: 73,390,578 (GRCm39) |
|
probably null |
Het |
| Fgfr1op2 |
A |
G |
6: 146,496,731 (GRCm39) |
I190V |
possibly damaging |
Het |
| Flt1 |
G |
A |
5: 147,536,403 (GRCm39) |
R813W |
probably damaging |
Het |
| Gm6489 |
T |
A |
1: 31,326,764 (GRCm39) |
|
noncoding transcript |
Het |
| Hacd3 |
T |
C |
9: 64,928,755 (GRCm39) |
E24G |
possibly damaging |
Het |
| Kat6b |
T |
G |
14: 21,720,112 (GRCm39) |
M1488R |
probably damaging |
Het |
| Kcnk3 |
T |
C |
5: 30,779,274 (GRCm39) |
V108A |
possibly damaging |
Het |
| Kif5a |
A |
G |
10: 127,079,337 (GRCm39) |
I287T |
probably damaging |
Het |
| Mical1 |
A |
C |
10: 41,355,067 (GRCm39) |
D192A |
probably benign |
Het |
| Mov10l1 |
A |
G |
15: 88,896,345 (GRCm39) |
N678D |
possibly damaging |
Het |
| Nup210l |
A |
T |
3: 90,114,701 (GRCm39) |
M1759L |
probably benign |
Het |
| Optn |
C |
A |
2: 5,039,009 (GRCm39) |
M371I |
possibly damaging |
Het |
| Pik3cg |
T |
C |
12: 32,255,223 (GRCm39) |
K255E |
probably damaging |
Het |
| Rims1 |
A |
T |
1: 22,443,667 (GRCm39) |
V380D |
probably damaging |
Het |
| Serpinb6e |
T |
A |
13: 34,022,943 (GRCm39) |
I147F |
probably benign |
Het |
| Syngr4 |
T |
C |
7: 45,545,194 (GRCm39) |
E5G |
possibly damaging |
Het |
| Tiam2 |
A |
G |
17: 3,464,388 (GRCm39) |
D39G |
possibly damaging |
Het |
| Tmem88b |
A |
G |
4: 155,869,884 (GRCm39) |
L59P |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,620,703 (GRCm39) |
K13995* |
probably null |
Het |
| Vmn1r225 |
A |
G |
17: 20,723,261 (GRCm39) |
Q234R |
possibly damaging |
Het |
| Vmn2r107 |
A |
G |
17: 20,595,151 (GRCm39) |
N568S |
probably benign |
Het |
| Zfp605 |
G |
T |
5: 110,276,564 (GRCm39) |
G561W |
probably damaging |
Het |
| Zfp69 |
T |
A |
4: 120,788,071 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATGCCTACTGCCCAAATGAC -3'
(R):5'- GTAAACACACTTGGAGTCCCC -3'
Sequencing Primer
(F):5'- ATGACTAGACCCCACTGTGG -3'
(R):5'- CCGTCAGGGCAGAAACTTGAC -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation