Incidental Mutation 'R4327:Slc13a1'
ID |
324413 |
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 |
041097-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.138)
|
Stock # |
R4327 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
24088282-24168091 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 24103478 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 355
(V355A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031713
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031713]
|
AlphaFold |
Q9JHI4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031713
AA Change: V355A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000031713 Gene: ENSMUSG00000029700 AA Change: V355A
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177412
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.9%
|
Validation Efficiency |
98% (64/65) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700019A02Rik |
T |
C |
1: 53,221,664 (GRCm39) |
D55G |
possibly damaging |
Het |
Alcam |
T |
C |
16: 52,073,579 (GRCm39) |
N549S |
possibly damaging |
Het |
Arap2 |
A |
T |
5: 62,779,206 (GRCm39) |
H1461Q |
possibly damaging |
Het |
Arhgef12 |
C |
A |
9: 42,886,525 (GRCm39) |
E1152* |
probably null |
Het |
Arrdc5 |
T |
C |
17: 56,601,420 (GRCm39) |
E235G |
possibly damaging |
Het |
Atp1a3 |
A |
G |
7: 24,687,056 (GRCm39) |
|
probably benign |
Het |
Bcl2l1 |
A |
G |
2: 152,624,099 (GRCm39) |
V223A |
probably benign |
Het |
C9orf72 |
T |
A |
4: 35,225,985 (GRCm39) |
|
probably benign |
Het |
Cela3b |
G |
T |
4: 137,151,242 (GRCm39) |
A137E |
probably benign |
Het |
Col13a1 |
T |
C |
10: 61,699,758 (GRCm39) |
T476A |
unknown |
Het |
Col16a1 |
T |
C |
4: 129,988,344 (GRCm39) |
|
probably null |
Het |
Ctcfl |
G |
A |
2: 172,955,299 (GRCm39) |
|
probably benign |
Het |
Cyp2j8 |
T |
A |
4: 96,395,566 (GRCm39) |
T20S |
probably benign |
Het |
Fastkd2 |
A |
G |
1: 63,791,516 (GRCm39) |
K675E |
probably benign |
Het |
Fsip2 |
A |
T |
2: 82,817,403 (GRCm39) |
I4379F |
probably benign |
Het |
Gm10722 |
T |
C |
9: 3,000,937 (GRCm39) |
C6R |
probably benign |
Het |
Hmgxb3 |
A |
T |
18: 61,300,611 (GRCm39) |
M155K |
probably benign |
Het |
Ip6k2 |
G |
A |
9: 108,682,847 (GRCm39) |
R319Q |
probably benign |
Het |
Kcnn1 |
A |
T |
8: 71,305,307 (GRCm39) |
V301E |
probably damaging |
Het |
Kcnq4 |
T |
C |
4: 120,568,561 (GRCm39) |
E385G |
probably benign |
Het |
Klhl28 |
G |
A |
12: 64,996,952 (GRCm39) |
A463V |
probably damaging |
Het |
Lhb |
A |
G |
7: 45,070,383 (GRCm39) |
R3G |
possibly damaging |
Het |
Lingo2 |
T |
A |
4: 35,708,462 (GRCm39) |
D506V |
probably damaging |
Het |
Macf1 |
C |
T |
4: 123,276,005 (GRCm39) |
A4176T |
probably damaging |
Het |
Marchf6 |
C |
T |
15: 31,498,887 (GRCm39) |
E137K |
probably benign |
Het |
Med12l |
T |
C |
3: 59,172,688 (GRCm39) |
S1813P |
probably benign |
Het |
Mpp3 |
T |
C |
11: 101,914,337 (GRCm39) |
|
probably benign |
Het |
Muc2 |
A |
C |
7: 141,281,577 (GRCm39) |
S479R |
probably damaging |
Het |
Or11g27 |
T |
A |
14: 50,770,971 (GRCm39) |
I34N |
probably benign |
Het |
Or12e10 |
G |
T |
2: 87,640,496 (GRCm39) |
V111L |
probably benign |
Het |
Or2t1 |
T |
A |
14: 14,328,193 (GRCm38) |
F27L |
probably damaging |
Het |
Or52n1 |
G |
A |
7: 104,382,833 (GRCm39) |
T246I |
probably damaging |
Het |
Pafah1b1 |
T |
C |
11: 74,573,066 (GRCm39) |
T333A |
probably benign |
Het |
Palm |
G |
A |
10: 79,643,520 (GRCm39) |
G83S |
probably benign |
Het |
Pcdhb9 |
A |
T |
18: 37,534,875 (GRCm39) |
S290C |
probably benign |
Het |
Pcdhb9 |
G |
T |
18: 37,534,876 (GRCm39) |
S290I |
probably benign |
Het |
Pdgfrb |
A |
T |
18: 61,204,792 (GRCm39) |
I551F |
possibly damaging |
Het |
Pex26 |
A |
T |
6: 121,164,373 (GRCm39) |
E172V |
probably damaging |
Het |
Pitrm1 |
A |
G |
13: 6,629,809 (GRCm39) |
|
probably benign |
Het |
Ptprs |
C |
A |
17: 56,754,468 (GRCm39) |
A191S |
possibly damaging |
Het |
Rdm1 |
T |
A |
11: 101,521,734 (GRCm39) |
V92E |
probably damaging |
Het |
Scn7a |
A |
G |
2: 66,567,815 (GRCm39) |
F260L |
probably damaging |
Het |
Serpinb3a |
T |
A |
1: 106,979,500 (GRCm39) |
M1L |
probably damaging |
Het |
Sh3d19 |
T |
C |
3: 86,031,020 (GRCm39) |
I728T |
probably benign |
Het |
Sin3a |
T |
C |
9: 57,002,642 (GRCm39) |
L178P |
probably damaging |
Het |
St7 |
G |
A |
6: 17,819,287 (GRCm39) |
V64M |
probably damaging |
Het |
Tcf25 |
T |
A |
8: 124,127,882 (GRCm39) |
L622* |
probably null |
Het |
Tiam1 |
A |
G |
16: 89,652,779 (GRCm39) |
V781A |
possibly damaging |
Het |
Tigd2 |
C |
A |
6: 59,187,562 (GRCm39) |
T143K |
probably benign |
Het |
Tmem107 |
G |
T |
11: 68,962,301 (GRCm39) |
|
probably null |
Het |
Tmem161b |
G |
A |
13: 84,399,359 (GRCm39) |
G5D |
probably damaging |
Het |
Tonsl |
G |
A |
15: 76,523,916 (GRCm39) |
A28V |
probably benign |
Het |
Treml4 |
T |
C |
17: 48,581,417 (GRCm39) |
Y222H |
probably damaging |
Het |
Trp53bp1 |
A |
T |
2: 121,087,131 (GRCm39) |
V175D |
probably damaging |
Het |
Zfp184 |
T |
C |
13: 22,144,072 (GRCm39) |
Y593H |
probably damaging |
Het |
Zfp286 |
A |
G |
11: 62,670,844 (GRCm39) |
C410R |
probably damaging |
Het |
Zfp934 |
T |
G |
13: 62,665,373 (GRCm39) |
N312H |
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 |
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'- CCTGATCTTTATGCAGGGCGTG -3'
(R):5'- TGCTAGGTGGAAACGCTGAG -3'
Sequencing Primer
(F):5'- AGGGCGTGATGGCTATCC -3'
(R):5'- CTGAGAAGGAGAAAGCGACCTCTG -3'
|
Posted On |
2015-06-24 |