Incidental Mutation 'R2940:Slc13a1'
ID |
255124 |
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 |
040517-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.138)
|
Stock # |
R2940 (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 A
at 24090779 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 547
(I547F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031713
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031713]
|
AlphaFold |
Q9JHI4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031713
AA Change: I547F
PolyPhen 2
Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000031713 Gene: ENSMUSG00000029700 AA Change: I547F
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
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy2 |
A |
G |
13: 68,878,424 (GRCm39) |
W405R |
probably damaging |
Het |
Apc |
G |
A |
18: 34,409,723 (GRCm39) |
R221H |
probably damaging |
Het |
Armcx6 |
A |
T |
X: 133,650,625 (GRCm39) |
W69R |
probably damaging |
Het |
Bltp1 |
A |
G |
3: 37,012,954 (GRCm39) |
D1878G |
probably damaging |
Het |
Carm1 |
C |
A |
9: 21,490,692 (GRCm39) |
|
probably null |
Het |
Clasrp |
C |
A |
7: 19,319,165 (GRCm39) |
|
probably benign |
Het |
Cngb1 |
T |
C |
8: 95,978,735 (GRCm39) |
I573V |
probably benign |
Het |
Crybg2 |
A |
G |
4: 133,809,745 (GRCm39) |
H1517R |
possibly damaging |
Het |
Dixdc1 |
G |
A |
9: 50,622,259 (GRCm39) |
A25V |
probably damaging |
Het |
Dmap1 |
G |
A |
4: 117,533,202 (GRCm39) |
T284M |
possibly damaging |
Het |
Dock6 |
A |
G |
9: 21,750,496 (GRCm39) |
F473L |
possibly damaging |
Het |
Eif3a |
T |
C |
19: 60,762,115 (GRCm39) |
T487A |
probably benign |
Het |
Faiml |
A |
G |
9: 99,114,527 (GRCm39) |
C121R |
probably damaging |
Het |
Fam180a |
A |
T |
6: 35,290,564 (GRCm39) |
S140T |
possibly damaging |
Het |
Fibcd1 |
T |
C |
2: 31,707,276 (GRCm39) |
Y327C |
probably damaging |
Het |
Haghl |
A |
G |
17: 26,004,060 (GRCm39) |
V8A |
possibly damaging |
Het |
Igfbp1 |
A |
G |
11: 7,151,970 (GRCm39) |
T258A |
probably benign |
Het |
Isl1 |
T |
C |
13: 116,444,835 (GRCm39) |
T65A |
possibly damaging |
Het |
Khdrbs3 |
T |
A |
15: 68,921,239 (GRCm39) |
D185E |
probably damaging |
Het |
Klc1 |
C |
T |
12: 111,772,451 (GRCm39) |
R157C |
possibly damaging |
Het |
Lamc3 |
A |
G |
2: 31,830,714 (GRCm39) |
S1484G |
probably benign |
Het |
Lman1 |
G |
T |
18: 66,117,344 (GRCm39) |
P466Q |
possibly damaging |
Het |
Map3k4 |
C |
T |
17: 12,480,157 (GRCm39) |
E682K |
probably damaging |
Het |
Mideas |
C |
T |
12: 84,203,245 (GRCm39) |
G886S |
probably benign |
Het |
Myo9b |
G |
A |
8: 71,786,981 (GRCm39) |
R721Q |
probably benign |
Het |
Nbea |
C |
G |
3: 55,842,045 (GRCm39) |
E1879Q |
probably benign |
Het |
Or8b12i |
C |
A |
9: 20,082,061 (GRCm39) |
G269W |
probably benign |
Het |
Or8g34 |
G |
A |
9: 39,373,226 (GRCm39) |
M166I |
probably benign |
Het |
Pigc |
T |
C |
1: 161,798,239 (GRCm39) |
Y74H |
possibly damaging |
Het |
Plek |
C |
T |
11: 16,942,887 (GRCm39) |
|
probably null |
Het |
Pramel28 |
A |
G |
4: 143,693,247 (GRCm39) |
V77A |
probably benign |
Het |
Rasgrf1 |
C |
T |
9: 89,873,767 (GRCm39) |
A692V |
possibly damaging |
Het |
Rbp3 |
C |
T |
14: 33,677,975 (GRCm39) |
T641M |
probably damaging |
Het |
Rnf25 |
A |
G |
1: 74,635,047 (GRCm39) |
V135A |
possibly damaging |
Het |
Senp6 |
G |
A |
9: 80,051,124 (GRCm39) |
A1134T |
probably benign |
Het |
Sh3rf2 |
G |
A |
18: 42,244,505 (GRCm39) |
|
probably null |
Het |
Sh3tc2 |
A |
G |
18: 62,122,757 (GRCm39) |
D506G |
probably damaging |
Het |
Slc26a6 |
G |
A |
9: 108,734,236 (GRCm39) |
V206I |
probably benign |
Het |
Smc1a |
T |
A |
X: 150,816,695 (GRCm39) |
Y516N |
probably damaging |
Het |
Sorbs1 |
T |
C |
19: 40,362,015 (GRCm39) |
D123G |
probably damaging |
Het |
Tecta |
A |
T |
9: 42,289,290 (GRCm39) |
M425K |
possibly damaging |
Het |
Trpv1 |
A |
G |
11: 73,145,675 (GRCm39) |
K403R |
probably damaging |
Het |
Ttc39d |
A |
G |
17: 80,524,982 (GRCm39) |
Y547C |
probably damaging |
Het |
Tubb6 |
A |
G |
18: 67,534,994 (GRCm39) |
N298D |
probably damaging |
Het |
Xpo7 |
G |
T |
14: 70,904,577 (GRCm39) |
L1020I |
probably benign |
Het |
Xpo7 |
A |
T |
14: 70,904,576 (GRCm39) |
L1020Q |
probably damaging |
Het |
Zswim4 |
A |
T |
8: 84,950,377 (GRCm39) |
L611Q |
probably damaging |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTCTATTTGCGAGTGCTAACG -3'
(R):5'- TCCGAGTTTGAATTCAAGCCTC -3'
Sequencing Primer
(F):5'- TGCTAACGCTAAGGGCATTC -3'
(R):5'- GCCATTCAAGTGAACCCT -3'
|
Posted On |
2014-12-29 |