Incidental Mutation 'R1221:Slc20a1'
| ID |
100050 |
| 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 |
039290-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1221 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
129040684-129053536 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 129050324 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 494
(G494D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105944
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028880]
[ENSMUST00000110315]
|
| AlphaFold |
Q61609 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028880
AA Change: G494D
PolyPhen 2
Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000028880
Gene: ENSMUSG00000027397
AA Change: G494D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PHO4
|
43 |
667 |
1.8e-162 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110315
AA Change: G494D
PolyPhen 2
Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000105944
Gene: ENSMUSG00000027397
AA Change: G494D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PHO4
|
43 |
667 |
1.3e-132 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125714
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127525
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141285
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144025
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 94.0%
|
| Validation Efficiency |
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
T |
C |
6: 86,942,460 (GRCm39) |
S668P |
unknown |
Het |
| Anks1 |
A |
G |
17: 28,269,616 (GRCm39) |
Q770R |
possibly damaging |
Het |
| Apc2 |
G |
A |
10: 80,142,214 (GRCm39) |
V378I |
probably damaging |
Het |
| Apeh |
A |
G |
9: 107,969,808 (GRCm39) |
V184A |
probably benign |
Het |
| AU018091 |
A |
G |
7: 3,208,717 (GRCm39) |
F404S |
probably damaging |
Het |
| Bap1 |
T |
C |
14: 30,979,608 (GRCm39) |
L537P |
probably damaging |
Het |
| Bhlha15 |
A |
G |
5: 144,128,341 (GRCm39) |
Y151C |
probably damaging |
Het |
| Bmp8b |
A |
T |
4: 123,008,504 (GRCm39) |
T157S |
probably damaging |
Het |
| Btbd1 |
G |
T |
7: 81,468,005 (GRCm39) |
H172N |
possibly damaging |
Het |
| C1rl |
A |
G |
6: 124,470,940 (GRCm39) |
R83G |
probably benign |
Het |
| Cep104 |
A |
G |
4: 154,072,902 (GRCm39) |
T387A |
probably benign |
Het |
| Cfi |
A |
T |
3: 129,666,618 (GRCm39) |
Q447L |
probably damaging |
Het |
| Cimap1a |
G |
T |
7: 140,428,296 (GRCm39) |
W10L |
probably damaging |
Het |
| Coq6 |
A |
G |
12: 84,418,301 (GRCm39) |
E295G |
possibly damaging |
Het |
| Dclre1a |
T |
C |
19: 56,519,700 (GRCm39) |
T978A |
possibly damaging |
Het |
| Dlc1 |
T |
C |
8: 37,051,985 (GRCm39) |
D582G |
probably benign |
Het |
| Dlgap2 |
A |
G |
8: 14,776,952 (GRCm39) |
T65A |
probably benign |
Het |
| Dock5 |
G |
A |
14: 67,996,610 (GRCm39) |
S1711L |
probably benign |
Het |
| Drc3 |
A |
C |
11: 60,275,052 (GRCm39) |
I338L |
probably benign |
Het |
| Dsc1 |
A |
T |
18: 20,247,599 (GRCm39) |
C5* |
probably null |
Het |
| F5 |
A |
G |
1: 163,989,368 (GRCm39) |
Y90C |
probably damaging |
Het |
| Gdf10 |
G |
A |
14: 33,654,710 (GRCm39) |
A406T |
probably benign |
Het |
| Gm136 |
G |
T |
4: 34,744,127 (GRCm39) |
A239E |
possibly damaging |
Het |
| Gm4952 |
A |
T |
19: 12,601,059 (GRCm39) |
D93V |
possibly damaging |
Het |
| Gramd1c |
T |
C |
16: 43,810,227 (GRCm39) |
T454A |
possibly damaging |
Het |
| Gstm6 |
A |
G |
3: 107,848,418 (GRCm39) |
I58T |
probably damaging |
Het |
| Kdm3b |
C |
T |
18: 34,941,298 (GRCm39) |
S263L |
possibly damaging |
Het |
| Kdm5b |
G |
C |
1: 134,526,829 (GRCm39) |
S317T |
probably damaging |
Het |
| Myo15b |
A |
G |
11: 115,777,546 (GRCm39) |
R71G |
possibly damaging |
Het |
| Nlrp1b |
G |
A |
11: 71,072,290 (GRCm39) |
P518S |
probably benign |
Het |
| Nme5 |
A |
T |
18: 34,704,575 (GRCm39) |
I90N |
probably damaging |
Het |
| Nrxn1 |
T |
A |
17: 90,950,722 (GRCm39) |
T478S |
probably damaging |
Het |
| Or8g22 |
A |
C |
9: 38,958,483 (GRCm39) |
D77E |
probably damaging |
Het |
| Osmr |
G |
A |
15: 6,853,042 (GRCm39) |
Q617* |
probably null |
Het |
| Pcsk5 |
T |
C |
19: 17,814,512 (GRCm39) |
D2G |
possibly damaging |
Het |
| Pdpn |
G |
A |
4: 143,000,608 (GRCm39) |
R75C |
probably damaging |
Het |
| Pidd1 |
A |
T |
7: 141,018,725 (GRCm39) |
F842Y |
probably damaging |
Het |
| Resf1 |
T |
A |
6: 149,227,719 (GRCm39) |
V255E |
probably benign |
Het |
| Sema3a |
A |
G |
5: 13,566,190 (GRCm39) |
Q158R |
probably benign |
Het |
| Setbp1 |
T |
A |
18: 78,899,798 (GRCm39) |
R1290W |
probably damaging |
Het |
| Spag17 |
A |
G |
3: 99,889,584 (GRCm39) |
E151G |
possibly damaging |
Het |
| Stt3b |
A |
G |
9: 115,086,567 (GRCm39) |
F351L |
probably benign |
Het |
| Tas1r2 |
A |
G |
4: 139,396,436 (GRCm39) |
M592V |
probably benign |
Het |
| Tbcd |
A |
G |
11: 121,387,909 (GRCm39) |
T347A |
probably benign |
Het |
| Tmem109 |
C |
A |
19: 10,851,733 (GRCm39) |
R37L |
possibly damaging |
Het |
| Tmem67 |
G |
A |
4: 12,045,871 (GRCm39) |
S862L |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,781,857 (GRCm39) |
D1017V |
probably damaging |
Het |
| Zfp646 |
G |
A |
7: 127,482,292 (GRCm39) |
G1490S |
probably benign |
Het |
| Zfyve16 |
T |
C |
13: 92,644,813 (GRCm39) |
S1130G |
possibly damaging |
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 |
|
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 |
|
R3428:Slc20a1
|
UTSW |
2 |
129,042,202 (GRCm39) |
missense |
probably benign |
|
|
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'- TCATTCCGTGCCAAAGAAGGTGAAC -3'
(R):5'- GAGCAAGTCTCAGGCTCCAATGAAG -3'
Sequencing Primer
(F):5'- TGCCAAAGAAGGTGAACAAAAG -3'
(R):5'- AATCCAAGTGAACTTCCTGTTGC -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation