Incidental Mutation 'R5504:Slc13a1'
| ID |
430820 |
| 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 |
043065-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.138)
|
| Stock # |
R5504 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
24088282-24168091 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 24150743 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 65
(M65K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031713
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031713]
|
| AlphaFold |
Q9JHI4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031713
AA Change: M65K
PolyPhen 2
Score 0.833 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000031713
Gene: ENSMUSG00000029700
AA Change: M65K
| 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: ENSMUST00000176692
|
| Meta Mutation Damage Score |
0.6720 |
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.2%
- 20x: 90.6%
|
| Validation Efficiency |
99% (69/70) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
C |
T |
8: 44,078,319 (GRCm39) |
C635Y |
probably damaging |
Het |
| Akr1b7 |
A |
G |
6: 34,396,453 (GRCm39) |
|
probably null |
Het |
| Amy2a1 |
T |
G |
3: 113,325,318 (GRCm39) |
D92A |
probably benign |
Het |
| Angel2 |
A |
G |
1: 190,676,083 (GRCm39) |
T455A |
probably damaging |
Het |
| Angptl2 |
T |
C |
2: 33,119,050 (GRCm39) |
|
probably benign |
Het |
| Ankrd40 |
A |
G |
11: 94,219,153 (GRCm39) |
E25G |
probably benign |
Het |
| Asb18 |
T |
A |
1: 89,920,746 (GRCm39) |
D136V |
probably damaging |
Het |
| Asphd1 |
T |
C |
7: 126,545,350 (GRCm39) |
I336V |
possibly damaging |
Het |
| Birc6 |
C |
T |
17: 74,962,208 (GRCm39) |
P58S |
probably damaging |
Het |
| Bsx |
A |
T |
9: 40,785,460 (GRCm39) |
|
probably benign |
Het |
| Cabin1 |
A |
G |
10: 75,488,843 (GRCm39) |
L1965P |
probably benign |
Het |
| Capza3 |
A |
T |
6: 139,988,165 (GRCm39) |
I255L |
probably benign |
Het |
| Ccdc185 |
G |
T |
1: 182,575,192 (GRCm39) |
A499E |
probably damaging |
Het |
| Cfhr4 |
A |
T |
1: 139,629,558 (GRCm39) |
S749T |
probably benign |
Het |
| Cmklr1 |
C |
G |
5: 113,752,990 (GRCm39) |
D4H |
possibly damaging |
Het |
| Colgalt2 |
G |
A |
1: 152,276,054 (GRCm39) |
V56M |
possibly damaging |
Het |
| Dennd1b |
A |
T |
1: 139,018,246 (GRCm39) |
T197S |
probably benign |
Het |
| Dhx30 |
A |
G |
9: 109,914,278 (GRCm39) |
Y1000H |
probably benign |
Het |
| Dlg2 |
C |
T |
7: 92,091,865 (GRCm39) |
A910V |
probably damaging |
Het |
| Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
| Dock5 |
T |
C |
14: 68,040,535 (GRCm39) |
D884G |
probably benign |
Het |
| Fhad1 |
A |
G |
4: 141,712,846 (GRCm39) |
S198P |
probably benign |
Het |
| Gabpa |
T |
C |
16: 84,649,446 (GRCm39) |
S218P |
probably benign |
Het |
| Gm17654 |
A |
T |
14: 43,815,494 (GRCm39) |
N104K |
unknown |
Het |
| Gm4775 |
T |
C |
14: 106,338,389 (GRCm39) |
|
noncoding transcript |
Het |
| Gvin3 |
T |
A |
7: 106,201,951 (GRCm39) |
|
noncoding transcript |
Het |
| Heatr1 |
T |
A |
13: 12,421,500 (GRCm39) |
S467T |
possibly damaging |
Het |
| Hecw1 |
A |
G |
13: 14,515,487 (GRCm39) |
M215T |
probably benign |
Het |
| Hmgn2 |
A |
T |
4: 133,694,114 (GRCm39) |
|
probably benign |
Het |
| Kncn |
T |
A |
4: 115,742,062 (GRCm39) |
I43N |
possibly damaging |
Het |
| Lgals3bp |
G |
T |
11: 118,284,811 (GRCm39) |
T256N |
probably benign |
Het |
| Mpi |
T |
C |
9: 57,452,500 (GRCm39) |
D344G |
probably damaging |
Het |
| Myom2 |
G |
A |
8: 15,178,879 (GRCm39) |
E1304K |
probably damaging |
Het |
| Npat |
T |
A |
9: 53,481,564 (GRCm39) |
F1091I |
probably benign |
Het |
| Nrcam |
T |
G |
12: 44,610,915 (GRCm39) |
|
probably null |
Het |
| Or2a7 |
T |
A |
6: 43,151,572 (GRCm39) |
Y217* |
probably null |
Het |
| Or4c114 |
C |
T |
2: 88,905,024 (GRCm39) |
R137Q |
probably benign |
Het |
| Or56a4 |
T |
C |
7: 104,806,383 (GRCm39) |
K169E |
probably benign |
Het |
| Pappa2 |
A |
G |
1: 158,675,615 (GRCm39) |
S1044P |
probably benign |
Het |
| Pcnx4 |
T |
C |
12: 72,621,222 (GRCm39) |
L1014S |
probably damaging |
Het |
| Pear1 |
G |
A |
3: 87,660,002 (GRCm39) |
|
probably benign |
Het |
| Piwil2 |
T |
A |
14: 70,627,348 (GRCm39) |
Y797F |
probably benign |
Het |
| Ppp2r1b |
T |
G |
9: 50,770,187 (GRCm39) |
L81R |
probably damaging |
Het |
| Pxdn |
C |
A |
12: 30,052,800 (GRCm39) |
H812Q |
probably damaging |
Het |
| Rad21l |
A |
T |
2: 151,510,357 (GRCm39) |
F33I |
probably damaging |
Het |
| Rgs13 |
A |
T |
1: 144,015,358 (GRCm39) |
C120S |
possibly damaging |
Het |
| Rp1 |
G |
A |
1: 4,420,113 (GRCm39) |
T333M |
probably damaging |
Het |
| Sema6d |
T |
A |
2: 124,499,941 (GRCm39) |
V339E |
probably damaging |
Het |
| Serpina3i |
T |
A |
12: 104,232,862 (GRCm39) |
Y256N |
probably damaging |
Het |
| Slco6d1 |
A |
G |
1: 98,349,064 (GRCm39) |
K45R |
probably damaging |
Het |
| Src |
T |
C |
2: 157,306,641 (GRCm39) |
Y215H |
probably damaging |
Het |
| Synj2 |
T |
C |
17: 6,086,750 (GRCm39) |
V384A |
possibly damaging |
Het |
| Tmeff1 |
T |
C |
4: 48,650,396 (GRCm39) |
S285P |
probably damaging |
Het |
| Vmn2r125 |
A |
G |
4: 156,703,456 (GRCm39) |
D278G |
possibly damaging |
Het |
| Vmn2r45 |
T |
C |
7: 8,486,176 (GRCm39) |
K371E |
probably benign |
Het |
| Zfp866 |
A |
T |
8: 70,218,341 (GRCm39) |
H426Q |
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 |
|
|
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 |
|
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'- CTCTCAGAGAAGGAGTACTCGG -3'
(R):5'- ACTTAATGCTGCAGAAACTCCC -3'
Sequencing Primer
(F):5'- GGAGTACTCGGATATTTAGAGCAC -3'
(R):5'- GAAGCACAATGTGCCTAC -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation