Incidental Mutation 'R6573:Slc13a1'
| ID |
523309 |
| 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 |
044697-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R6573 (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 24137094 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 107
(R107G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031713
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031713]
|
| AlphaFold |
Q9JHI4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031713
AA Change: R107G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031713
Gene: ENSMUSG00000029700
AA Change: R107G
| 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 |
0.9039 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
| Validation Efficiency |
100% (36/36) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ceacam5 |
A |
G |
7: 17,447,372 (GRCm39) |
M1V |
probably null |
Het |
| Clstn1 |
A |
G |
4: 149,728,146 (GRCm39) |
T605A |
probably damaging |
Het |
| Cstf2t |
A |
G |
19: 31,061,180 (GRCm39) |
M239V |
probably benign |
Het |
| Dsp |
A |
T |
13: 38,380,838 (GRCm39) |
R1929W |
probably damaging |
Het |
| Edf1 |
G |
T |
2: 25,451,875 (GRCm39) |
R133L |
probably damaging |
Het |
| Efcab3 |
A |
T |
11: 104,971,461 (GRCm39) |
Y129F |
possibly damaging |
Het |
| Entrep1 |
T |
A |
19: 23,965,866 (GRCm39) |
N211I |
probably damaging |
Het |
| Fbxo34 |
A |
T |
14: 47,767,124 (GRCm39) |
L212F |
possibly damaging |
Het |
| Flacc1 |
A |
G |
1: 58,706,003 (GRCm39) |
F289L |
probably benign |
Het |
| Gas2l3 |
C |
A |
10: 89,258,072 (GRCm39) |
|
probably null |
Het |
| Gfod1 |
C |
T |
13: 43,353,841 (GRCm39) |
S378N |
probably damaging |
Het |
| Gse1 |
T |
C |
8: 121,294,536 (GRCm39) |
S288P |
probably damaging |
Het |
| Gzme |
T |
A |
14: 56,356,283 (GRCm39) |
T72S |
probably benign |
Het |
| Hyal5 |
T |
C |
6: 24,891,551 (GRCm39) |
V455A |
probably damaging |
Het |
| Megf9 |
A |
T |
4: 70,406,409 (GRCm39) |
C252* |
probably null |
Het |
| Mrgprg |
T |
C |
7: 143,318,333 (GRCm39) |
K260E |
possibly damaging |
Het |
| Nmi |
T |
A |
2: 51,840,081 (GRCm39) |
K220M |
possibly damaging |
Het |
| Nutm1 |
A |
C |
2: 112,081,388 (GRCm39) |
|
probably null |
Het |
| Or2ag1b |
A |
T |
7: 106,288,670 (GRCm39) |
D89E |
probably benign |
Het |
| Or8k16 |
C |
T |
2: 85,520,343 (GRCm39) |
S190L |
probably damaging |
Het |
| Pde4b |
T |
A |
4: 102,287,359 (GRCm39) |
I34N |
probably damaging |
Het |
| Perm1 |
C |
A |
4: 156,303,130 (GRCm39) |
A558D |
probably damaging |
Het |
| Pgpep1 |
A |
G |
8: 71,103,265 (GRCm39) |
I203T |
probably benign |
Het |
| Pmp22 |
C |
T |
11: 63,049,099 (GRCm39) |
A114V |
probably damaging |
Het |
| Prune2 |
G |
T |
19: 17,098,521 (GRCm39) |
G1342C |
probably damaging |
Het |
| Prune2 |
G |
T |
19: 17,098,522 (GRCm39) |
G1342V |
possibly damaging |
Het |
| Ros1 |
T |
A |
10: 52,031,106 (GRCm39) |
I512F |
possibly damaging |
Het |
| Slc10a5 |
A |
T |
3: 10,400,110 (GRCm39) |
F183L |
probably damaging |
Het |
| Spag5 |
C |
T |
11: 78,205,008 (GRCm39) |
Q598* |
probably null |
Het |
| Spata6 |
T |
A |
4: 111,636,476 (GRCm39) |
F256I |
probably damaging |
Het |
| Tnnt1 |
C |
A |
7: 4,517,333 (GRCm39) |
|
probably null |
Het |
| Top2b |
T |
A |
14: 16,398,991 (GRCm38) |
L537Q |
probably damaging |
Het |
| Unc79 |
G |
A |
12: 103,027,647 (GRCm39) |
E413K |
probably damaging |
Het |
| Vmn2r104 |
A |
T |
17: 20,262,487 (GRCm39) |
F214L |
probably damaging |
Het |
| Vmn2r118 |
C |
T |
17: 55,899,996 (GRCm39) |
C636Y |
probably damaging |
Het |
| Zfat |
T |
C |
15: 68,037,703 (GRCm39) |
N917S |
probably damaging |
Het |
| Zfp317 |
T |
C |
9: 19,556,550 (GRCm39) |
S53P |
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 |
|
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'- GGAAACTAGTTGCTGTTTCCCTC -3'
(R):5'- CACAGTTGAAGGTCACAGTTAAG -3'
Sequencing Primer
(F):5'- CCTCAAGCACTCTTCACATCG -3'
(R):5'- TCACAGTTAAGAGTAGTAGCCTAAG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation