Incidental Mutation 'R4520:Slc13a1'
| ID |
334171 |
| 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 |
041763-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.138)
|
| Stock # |
R4520 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
24088282-24168091 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 24134512 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 124
(T124A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031713
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031713]
|
| AlphaFold |
Q9JHI4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031713
AA Change: T124A
PolyPhen 2
Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000031713
Gene: ENSMUSG00000029700
AA Change: T124A
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
G |
3: 137,776,027 (GRCm39) |
T1739A |
probably damaging |
Het |
| Ascc3 |
A |
G |
10: 50,536,766 (GRCm39) |
N700D |
probably benign |
Het |
| Ccdc88c |
G |
T |
12: 100,879,591 (GRCm39) |
S1843R |
possibly damaging |
Het |
| Cel |
C |
T |
2: 28,447,980 (GRCm39) |
V349M |
probably benign |
Het |
| Cspp1 |
A |
G |
1: 10,204,452 (GRCm39) |
T1127A |
probably benign |
Het |
| Cyp2b10 |
T |
C |
7: 25,610,982 (GRCm39) |
V113A |
probably benign |
Het |
| Cyp2c50 |
A |
G |
19: 40,079,133 (GRCm39) |
T159A |
probably benign |
Het |
| Degs1 |
T |
C |
1: 182,104,373 (GRCm39) |
D304G |
possibly damaging |
Het |
| Esr2 |
G |
A |
12: 76,214,323 (GRCm39) |
P43S |
possibly damaging |
Het |
| Fbxo41 |
A |
G |
6: 85,461,024 (GRCm39) |
I228T |
probably damaging |
Het |
| Gm5444 |
A |
G |
13: 4,884,225 (GRCm39) |
|
noncoding transcript |
Het |
| Golga3 |
T |
A |
5: 110,351,617 (GRCm39) |
L790* |
probably null |
Het |
| Gtpbp6 |
T |
C |
5: 110,255,725 (GRCm39) |
T105A |
probably benign |
Het |
| Ido2 |
T |
C |
8: 25,066,194 (GRCm39) |
E24G |
probably damaging |
Het |
| Ihh |
T |
A |
1: 74,990,109 (GRCm39) |
I89F |
probably damaging |
Het |
| Krt13 |
A |
G |
11: 100,010,174 (GRCm39) |
M269T |
probably damaging |
Het |
| Marf1 |
T |
C |
16: 13,950,530 (GRCm39) |
H952R |
probably damaging |
Het |
| Mga |
T |
A |
2: 119,778,579 (GRCm39) |
F2041L |
possibly damaging |
Het |
| Msmo1 |
A |
C |
8: 65,173,557 (GRCm39) |
|
probably benign |
Het |
| Mterf1a |
A |
G |
5: 3,940,992 (GRCm39) |
V292A |
probably damaging |
Het |
| Naxe |
A |
G |
3: 87,965,289 (GRCm39) |
|
probably null |
Het |
| Ntng1 |
A |
G |
3: 109,842,312 (GRCm39) |
S154P |
probably damaging |
Het |
| Or51h5 |
A |
T |
7: 102,577,764 (GRCm39) |
I310F |
probably benign |
Het |
| Or56b1 |
T |
A |
7: 104,285,376 (GRCm39) |
V165E |
probably damaging |
Het |
| Or8h7 |
T |
C |
2: 86,721,363 (GRCm39) |
D52G |
probably benign |
Het |
| Otog |
T |
A |
7: 45,890,477 (GRCm39) |
|
probably benign |
Het |
| Pigo |
A |
T |
4: 43,020,301 (GRCm39) |
H880Q |
probably benign |
Het |
| Plce1 |
T |
C |
19: 38,512,763 (GRCm39) |
S21P |
possibly damaging |
Het |
| Pole |
T |
A |
5: 110,445,790 (GRCm39) |
D555E |
probably damaging |
Het |
| Prkag2 |
A |
G |
5: 25,071,169 (GRCm39) |
V403A |
probably damaging |
Het |
| Psg28 |
T |
A |
7: 18,156,826 (GRCm39) |
M470L |
probably benign |
Het |
| Rpgrip1 |
A |
G |
14: 52,389,746 (GRCm39) |
T1138A |
probably benign |
Het |
| Rpl10l |
T |
C |
12: 66,330,512 (GRCm39) |
D207G |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Serpinb9c |
T |
C |
13: 33,335,840 (GRCm39) |
|
probably null |
Het |
| Sh2d6 |
T |
C |
6: 72,495,936 (GRCm39) |
N101D |
possibly damaging |
Het |
| Shisa8 |
C |
G |
15: 82,096,163 (GRCm39) |
V151L |
possibly damaging |
Het |
| Slc6a3 |
G |
A |
13: 73,688,975 (GRCm39) |
V100M |
possibly damaging |
Het |
| Sspn |
A |
G |
6: 145,907,033 (GRCm39) |
T79A |
probably benign |
Het |
| Tlr8 |
C |
T |
X: 166,026,171 (GRCm39) |
R893H |
probably damaging |
Het |
| Tnrc18 |
T |
C |
5: 142,717,905 (GRCm39) |
K2183R |
unknown |
Het |
| Trim15 |
T |
C |
17: 37,177,242 (GRCm39) |
I139M |
probably benign |
Het |
| Trmt13 |
A |
T |
3: 116,375,262 (GRCm39) |
|
probably null |
Het |
| Vmn2r84 |
T |
A |
10: 130,222,391 (GRCm39) |
T610S |
probably damaging |
Het |
| Zcchc14 |
A |
T |
8: 122,335,834 (GRCm39) |
|
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 |
|
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 |
|
|
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'- GATACCATCAATGTCCAGTCCG -3'
(R):5'- GAATGTTCTCTTTGTACCCTTAAGG -3'
Sequencing Primer
(F):5'- CGTGGGCGGCAGATTCATTG -3'
(R):5'- GGCAGAAACTTGACCTTC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation