Incidental Mutation 'R3428:Slc20a1'
ID |
267945 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc20a1
|
Ensembl Gene |
ENSMUSG00000027397 |
Gene Name |
solute carrier family 20, member 1 |
Synonyms |
Glvr1, PiT-1, Glvr-1 |
MMRRC Submission |
040646-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3428 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
129040684-129053536 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 129042202 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 149
(N149I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105944
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028880]
[ENSMUST00000110315]
[ENSMUST00000148988]
|
AlphaFold |
Q61609 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028880
AA Change: N149I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000028880 Gene: ENSMUSG00000027397 AA Change: N149I
Domain | Start | End | E-Value | Type |
Pfam:PHO4
|
43 |
667 |
1.8e-162 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110315
AA Change: N149I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000105944 Gene: ENSMUSG00000027397 AA Change: N149I
Domain | Start | End | E-Value | Type |
Pfam:PHO4
|
43 |
667 |
1.3e-132 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140907
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141285
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144744
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000148988
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192413
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193902
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
100% (34/34) |
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 a sodium-phosphate symporter that absorbs phosphate from interstitial fluid for use in cellular functions such as metabolism, signal transduction, and nucleic acid and lipid synthesis. The encoded protein is also a retroviral receptor, causing human cells to be susceptible to infection by gibbon ape leukemia virus, simian sarcoma-associated virus, feline leukemia virus subgroup B, and 10A1 murine leukemia virus.[provided by RefSeq, Mar 2011] PHENOTYPE: Mice homozygous for a knock-out allele exhibit mid-gestation lethality associated with abnormal vitelline vasculature, growth retardation, and anemia. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam18 |
C |
A |
8: 25,157,620 (GRCm39) |
C110F |
probably damaging |
Het |
Adamts14 |
C |
T |
10: 61,060,153 (GRCm39) |
E452K |
probably benign |
Het |
Adrb3 |
T |
C |
8: 27,718,209 (GRCm39) |
D80G |
probably damaging |
Het |
Alg5 |
T |
A |
3: 54,643,006 (GRCm39) |
M1K |
probably null |
Het |
Ap1g1 |
A |
G |
8: 110,570,080 (GRCm39) |
E398G |
probably damaging |
Het |
Arhgap17 |
A |
T |
7: 122,922,854 (GRCm39) |
L85Q |
probably damaging |
Het |
Bbs9 |
T |
A |
9: 22,479,183 (GRCm39) |
|
probably benign |
Het |
BC034090 |
T |
C |
1: 155,117,244 (GRCm39) |
I291M |
probably benign |
Het |
Bicd1 |
T |
C |
6: 149,414,400 (GRCm39) |
L371P |
probably damaging |
Het |
Cand2 |
A |
C |
6: 115,766,668 (GRCm39) |
R424S |
probably benign |
Het |
Eng |
G |
T |
2: 32,547,545 (GRCm39) |
V29F |
probably damaging |
Het |
Gm5828 |
T |
A |
1: 16,838,838 (GRCm39) |
|
noncoding transcript |
Het |
Hspg2 |
T |
C |
4: 137,282,601 (GRCm39) |
L3447P |
probably damaging |
Het |
Igtp |
G |
A |
11: 58,097,419 (GRCm39) |
V197I |
probably damaging |
Het |
Kmt2a |
T |
A |
9: 44,759,416 (GRCm39) |
N844I |
probably benign |
Het |
Lyzl4 |
T |
C |
9: 121,413,195 (GRCm39) |
I78V |
probably null |
Het |
Mtg2 |
A |
G |
2: 179,726,065 (GRCm39) |
H225R |
possibly damaging |
Het |
Or10a5 |
G |
A |
7: 106,635,923 (GRCm39) |
R187K |
probably benign |
Het |
Pfpl |
T |
A |
19: 12,407,677 (GRCm39) |
S643T |
probably benign |
Het |
Prelid1 |
T |
G |
13: 55,470,007 (GRCm39) |
V2G |
probably benign |
Het |
Psma2 |
A |
T |
13: 14,791,362 (GRCm39) |
K2N |
probably benign |
Het |
Sec24d |
C |
T |
3: 123,137,572 (GRCm39) |
|
probably benign |
Het |
Setd1a |
G |
T |
7: 127,384,493 (GRCm39) |
|
probably benign |
Het |
Slc22a5 |
A |
G |
11: 53,760,152 (GRCm39) |
V388A |
probably benign |
Het |
Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Trav6-7-dv9 |
A |
G |
14: 53,947,788 (GRCm39) |
T97A |
probably benign |
Het |
Trpv3 |
A |
T |
11: 73,176,767 (GRCm39) |
Y382F |
probably damaging |
Het |
Ubr2 |
T |
C |
17: 47,279,365 (GRCm39) |
Y681C |
probably damaging |
Het |
Unc80 |
G |
A |
1: 66,678,464 (GRCm39) |
V2082I |
probably benign |
Het |
Vmn2r125 |
A |
G |
4: 156,702,436 (GRCm39) |
D74G |
probably benign |
Het |
Yipf2 |
T |
C |
9: 21,500,941 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Slc20a1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01590:Slc20a1
|
APN |
2 |
129,051,146 (GRCm39) |
splice site |
probably benign |
|
IGL02563:Slc20a1
|
APN |
2 |
129,049,604 (GRCm39) |
missense |
probably benign |
|
R0037:Slc20a1
|
UTSW |
2 |
129,052,692 (GRCm39) |
missense |
probably damaging |
1.00 |
R0514:Slc20a1
|
UTSW |
2 |
129,041,811 (GRCm39) |
missense |
probably damaging |
1.00 |
R1221:Slc20a1
|
UTSW |
2 |
129,050,324 (GRCm39) |
missense |
probably benign |
0.44 |
R2099:Slc20a1
|
UTSW |
2 |
129,049,758 (GRCm39) |
missense |
probably benign |
0.00 |
R2122:Slc20a1
|
UTSW |
2 |
129,041,739 (GRCm39) |
missense |
possibly damaging |
0.86 |
R2261:Slc20a1
|
UTSW |
2 |
129,048,394 (GRCm39) |
missense |
possibly damaging |
0.85 |
R2426:Slc20a1
|
UTSW |
2 |
129,050,150 (GRCm39) |
missense |
probably benign |
0.13 |
R4712:Slc20a1
|
UTSW |
2 |
129,041,611 (GRCm39) |
splice site |
probably benign |
|
R4981:Slc20a1
|
UTSW |
2 |
129,041,919 (GRCm39) |
missense |
probably damaging |
1.00 |
R5213:Slc20a1
|
UTSW |
2 |
129,042,429 (GRCm39) |
missense |
probably damaging |
1.00 |
R5395:Slc20a1
|
UTSW |
2 |
129,050,257 (GRCm39) |
missense |
probably damaging |
1.00 |
R5506:Slc20a1
|
UTSW |
2 |
129,052,739 (GRCm39) |
missense |
probably benign |
0.00 |
R6255:Slc20a1
|
UTSW |
2 |
129,049,924 (GRCm39) |
missense |
probably damaging |
0.99 |
R6266:Slc20a1
|
UTSW |
2 |
129,051,814 (GRCm39) |
missense |
possibly damaging |
0.78 |
R7022:Slc20a1
|
UTSW |
2 |
129,041,979 (GRCm39) |
missense |
probably damaging |
0.99 |
R7091:Slc20a1
|
UTSW |
2 |
129,050,192 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7175:Slc20a1
|
UTSW |
2 |
129,052,662 (GRCm39) |
missense |
probably damaging |
1.00 |
R7250:Slc20a1
|
UTSW |
2 |
129,051,844 (GRCm39) |
missense |
possibly damaging |
0.78 |
R7914:Slc20a1
|
UTSW |
2 |
129,049,757 (GRCm39) |
missense |
probably benign |
0.01 |
R7915:Slc20a1
|
UTSW |
2 |
129,049,757 (GRCm39) |
missense |
probably benign |
0.01 |
R7916:Slc20a1
|
UTSW |
2 |
129,049,757 (GRCm39) |
missense |
probably benign |
0.01 |
R7919:Slc20a1
|
UTSW |
2 |
129,049,757 (GRCm39) |
missense |
probably benign |
0.01 |
R8051:Slc20a1
|
UTSW |
2 |
129,050,120 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8098:Slc20a1
|
UTSW |
2 |
129,051,041 (GRCm39) |
missense |
probably damaging |
1.00 |
R8181:Slc20a1
|
UTSW |
2 |
129,051,047 (GRCm39) |
missense |
probably damaging |
1.00 |
R8420:Slc20a1
|
UTSW |
2 |
129,041,784 (GRCm39) |
missense |
probably damaging |
1.00 |
R9124:Slc20a1
|
UTSW |
2 |
129,051,142 (GRCm39) |
missense |
probably damaging |
1.00 |
R9532:Slc20a1
|
UTSW |
2 |
129,041,933 (GRCm39) |
missense |
probably damaging |
1.00 |
X0067:Slc20a1
|
UTSW |
2 |
129,041,808 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Slc20a1
|
UTSW |
2 |
129,046,020 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTTCGCTCCAGTCTTGAAC -3'
(R):5'- CAAAATGAAGTGTCAGGTCTGG -3'
Sequencing Primer
(F):5'- AGTCTTGAACCTTCTCTCCGCAAG -3'
(R):5'- AAGTACGTTTTTGTTAACAAGACCCC -3'
|
Posted On |
2015-02-18 |