Incidental Mutation 'R6902:Slc13a1'
ID |
538582 |
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 |
045032-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.138)
|
Stock # |
R6902 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
24088282-24168091 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 24097665 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 421
(I421V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031713
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031713]
|
AlphaFold |
Q9JHI4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031713
AA Change: I421V
PolyPhen 2
Score 0.648 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000031713 Gene: ENSMUSG00000029700 AA Change: I421V
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 |
|
Meta Mutation Damage Score |
0.0826 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.6%
|
Validation Efficiency |
98% (50/51) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3110070M22Rik |
C |
G |
13: 119,624,680 (GRCm39) |
|
probably benign |
Het |
Abcc9 |
T |
A |
6: 142,624,953 (GRCm39) |
S481C |
probably damaging |
Het |
Adgrl3 |
C |
A |
5: 81,837,434 (GRCm39) |
S773R |
probably damaging |
Het |
Alkbh5 |
G |
A |
11: 60,429,381 (GRCm39) |
A45T |
probably benign |
Het |
Ankrd6 |
C |
A |
4: 32,806,419 (GRCm39) |
Q576H |
probably damaging |
Het |
Ankrd6 |
T |
A |
4: 32,806,420 (GRCm39) |
Q576L |
probably damaging |
Het |
Carmil1 |
T |
C |
13: 24,299,528 (GRCm39) |
N332S |
possibly damaging |
Het |
Cc2d2b |
A |
G |
19: 40,804,733 (GRCm39) |
Q1250R |
possibly damaging |
Het |
Chd9 |
A |
C |
8: 91,769,579 (GRCm39) |
N2539T |
probably damaging |
Het |
Clec4b2 |
C |
T |
6: 123,177,987 (GRCm39) |
Q101* |
probably null |
Het |
Clstn2 |
A |
T |
9: 97,351,875 (GRCm39) |
F517I |
probably damaging |
Het |
Cog2 |
A |
G |
8: 125,273,430 (GRCm39) |
K590E |
probably damaging |
Het |
Coq9 |
G |
A |
8: 95,577,180 (GRCm39) |
E182K |
probably benign |
Het |
Fcgbpl1 |
C |
T |
7: 27,836,638 (GRCm39) |
R186C |
probably damaging |
Het |
Focad |
C |
T |
4: 88,148,713 (GRCm39) |
R477C |
unknown |
Het |
Gja10 |
G |
T |
4: 32,601,905 (GRCm39) |
H160N |
probably damaging |
Het |
Gpr132 |
T |
A |
12: 112,815,830 (GRCm39) |
Y332F |
probably benign |
Het |
Herc2 |
A |
G |
7: 55,785,234 (GRCm39) |
T1495A |
probably benign |
Het |
Hivep3 |
T |
A |
4: 119,953,192 (GRCm39) |
S503T |
possibly damaging |
Het |
Ifi44 |
A |
T |
3: 151,451,536 (GRCm39) |
I190N |
possibly damaging |
Het |
Igf1r |
T |
A |
7: 67,653,911 (GRCm39) |
C150S |
probably damaging |
Het |
Ighv1-42 |
T |
A |
12: 114,901,155 (GRCm39) |
N4Y |
possibly damaging |
Het |
Klra9 |
T |
A |
6: 130,156,003 (GRCm39) |
I251F |
probably benign |
Het |
Krt79 |
T |
C |
15: 101,840,314 (GRCm39) |
N294S |
probably benign |
Het |
Lama2 |
T |
G |
10: 26,857,625 (GRCm39) |
T3075P |
probably damaging |
Het |
Lrfn1 |
T |
G |
7: 28,159,238 (GRCm39) |
C386G |
probably benign |
Het |
Lrp2 |
T |
C |
2: 69,289,847 (GRCm39) |
D3664G |
probably damaging |
Het |
Mfsd3 |
T |
A |
15: 76,587,349 (GRCm39) |
M344K |
probably damaging |
Het |
Mier2 |
C |
A |
10: 79,376,673 (GRCm39) |
|
probably benign |
Het |
Mmp2 |
G |
A |
8: 93,563,545 (GRCm39) |
V340M |
probably damaging |
Het |
Mrgprb3 |
T |
A |
7: 48,293,447 (GRCm39) |
I35F |
probably benign |
Het |
Myo5b |
A |
T |
18: 74,809,756 (GRCm39) |
I613F |
possibly damaging |
Het |
Nicol1 |
G |
A |
5: 34,140,923 (GRCm39) |
|
probably benign |
Het |
Or14c43 |
T |
A |
7: 86,114,995 (GRCm39) |
C125* |
probably null |
Het |
Or51f1e |
A |
T |
7: 102,747,562 (GRCm39) |
I205F |
probably benign |
Het |
Or7d11 |
A |
T |
9: 19,966,670 (GRCm39) |
L30M |
possibly damaging |
Het |
Or8g30 |
C |
A |
9: 39,230,315 (GRCm39) |
L198F |
probably damaging |
Het |
Pan2 |
A |
G |
10: 128,151,506 (GRCm39) |
T867A |
probably benign |
Het |
Papolb |
T |
A |
5: 142,513,906 (GRCm39) |
H579L |
probably benign |
Het |
Pcf11 |
C |
A |
7: 92,307,507 (GRCm39) |
G887V |
probably damaging |
Het |
Pdzd8 |
A |
G |
19: 59,289,829 (GRCm39) |
S524P |
possibly damaging |
Het |
Pole3 |
T |
C |
4: 62,442,300 (GRCm39) |
|
probably benign |
Het |
Prdm14 |
C |
T |
1: 13,192,645 (GRCm39) |
V365I |
probably benign |
Het |
Shank1 |
T |
A |
7: 44,006,239 (GRCm39) |
F1985L |
probably benign |
Het |
Slc2a6 |
C |
T |
2: 26,913,172 (GRCm39) |
V374M |
probably benign |
Het |
Spata1 |
A |
T |
3: 146,181,078 (GRCm39) |
N293K |
possibly damaging |
Het |
Stk40 |
T |
A |
4: 126,031,605 (GRCm39) |
D366E |
probably benign |
Het |
Tas2r117 |
T |
C |
6: 132,780,288 (GRCm39) |
L142S |
probably damaging |
Het |
Tomm70a |
T |
C |
16: 56,958,444 (GRCm39) |
S266P |
probably damaging |
Het |
Trgv1 |
T |
C |
13: 19,524,190 (GRCm39) |
L2P |
probably benign |
Het |
Vipr2 |
A |
T |
12: 116,102,819 (GRCm39) |
T310S |
possibly damaging |
Het |
Vti1a |
A |
T |
19: 55,487,673 (GRCm39) |
|
probably null |
Het |
Zfp961 |
A |
G |
8: 72,722,522 (GRCm39) |
K345R |
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 |
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 |
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'- CTTTTGACATTCCTGAACACACATC -3'
(R):5'- TCAGTGGAAACTCTTAGTCCATGTC -3'
Sequencing Primer
(F):5'- CTTGAACTATGAACACACATCATCTG -3'
(R):5'- GTCAAATCTCTGCCTTGAAAACAG -3'
|
Posted On |
2018-11-06 |