Incidental Mutation 'R0037:Slc20a1'
| ID |
15716 |
| 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 |
038331-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0037 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
129040684-129053536 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 129052692 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 658
(V658A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105944
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028880]
[ENSMUST00000110315]
|
| AlphaFold |
Q61609 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028880
AA Change: V658A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028880
Gene: ENSMUSG00000027397
AA Change: V658A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PHO4
|
43 |
667 |
1.8e-162 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110315
AA Change: V658A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105944
Gene: ENSMUSG00000027397
AA Change: V658A
| 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: ENSMUST00000144025
|
| Meta Mutation Damage Score |
0.5522 |
| Coding Region Coverage |
- 1x: 81.5%
- 3x: 73.9%
- 10x: 52.8%
- 20x: 32.9%
|
| Validation Efficiency |
94% (83/88) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
G |
A |
8: 111,769,891 (GRCm39) |
R330Q |
possibly damaging |
Het |
| Amph |
A |
T |
13: 19,284,823 (GRCm39) |
S250C |
possibly damaging |
Het |
| Ankrd61 |
T |
C |
5: 143,831,795 (GRCm39) |
N3S |
probably damaging |
Het |
| Camsap2 |
C |
T |
1: 136,209,630 (GRCm39) |
E621K |
probably damaging |
Het |
| Cpt2 |
A |
G |
4: 107,765,171 (GRCm39) |
S152P |
probably damaging |
Het |
| Csmd1 |
T |
A |
8: 15,967,248 (GRCm39) |
Q3205L |
probably damaging |
Het |
| Dag1 |
G |
T |
9: 108,084,552 (GRCm39) |
P863Q |
probably damaging |
Het |
| Dclk1 |
A |
G |
3: 55,163,480 (GRCm39) |
I191V |
probably benign |
Het |
| Ddhd1 |
A |
G |
14: 45,847,967 (GRCm39) |
L567P |
probably damaging |
Het |
| Enox1 |
T |
C |
14: 77,936,750 (GRCm39) |
|
probably benign |
Het |
| Exoc3 |
T |
C |
13: 74,347,658 (GRCm39) |
E104G |
probably damaging |
Het |
| Foxp1 |
T |
A |
6: 99,139,930 (GRCm39) |
Q17L |
probably damaging |
Het |
| Fscn1 |
A |
G |
5: 142,956,449 (GRCm39) |
|
probably benign |
Het |
| Fut8 |
T |
C |
12: 77,411,811 (GRCm39) |
V91A |
probably benign |
Het |
| Gm5475 |
T |
A |
15: 100,322,083 (GRCm39) |
Y77* |
probably null |
Het |
| Gm5800 |
T |
C |
14: 51,953,605 (GRCm39) |
|
probably benign |
Het |
| Hs2st1 |
T |
A |
3: 144,143,405 (GRCm39) |
K213* |
probably null |
Het |
| Il5ra |
T |
A |
6: 106,719,647 (GRCm39) |
Y62F |
probably damaging |
Het |
| Inpp5d |
A |
G |
1: 87,635,851 (GRCm39) |
E734G |
probably damaging |
Het |
| Insig2 |
A |
T |
1: 121,234,649 (GRCm39) |
C194S |
probably damaging |
Het |
| Lemd3 |
A |
C |
10: 120,761,361 (GRCm39) |
H898Q |
possibly damaging |
Het |
| Lrp4 |
A |
G |
2: 91,301,548 (GRCm39) |
T43A |
probably benign |
Het |
| Mast3 |
C |
T |
8: 71,236,343 (GRCm39) |
|
probably null |
Het |
| Melk |
T |
C |
4: 44,360,864 (GRCm39) |
|
probably benign |
Het |
| Myo10 |
C |
T |
15: 25,666,618 (GRCm39) |
|
probably benign |
Het |
| Nlrc5 |
G |
A |
8: 95,216,163 (GRCm39) |
V967M |
probably benign |
Het |
| Nlrp9b |
T |
A |
7: 19,757,647 (GRCm39) |
F295I |
probably damaging |
Het |
| Phf3 |
A |
T |
1: 30,843,999 (GRCm39) |
D1653E |
probably benign |
Het |
| Ppfia4 |
A |
T |
1: 134,251,827 (GRCm39) |
L449Q |
probably damaging |
Het |
| Ppp1r16b |
T |
A |
2: 158,599,129 (GRCm39) |
I367N |
probably damaging |
Het |
| Ralgapb |
T |
C |
2: 158,279,331 (GRCm39) |
L139S |
probably damaging |
Het |
| Son |
C |
A |
16: 91,461,616 (GRCm39) |
A347E |
probably damaging |
Het |
| Tprg1l |
C |
A |
4: 154,244,594 (GRCm39) |
V134L |
possibly damaging |
Het |
| Trim24 |
A |
T |
6: 37,934,484 (GRCm39) |
N733I |
probably damaging |
Het |
| Uggt1 |
A |
T |
1: 36,225,013 (GRCm39) |
D540E |
probably benign |
Het |
| Urb2 |
T |
A |
8: 124,773,934 (GRCm39) |
F1488L |
probably damaging |
Het |
| Utp20 |
T |
C |
10: 88,634,266 (GRCm39) |
D810G |
probably benign |
Het |
| Zfp473 |
T |
A |
7: 44,383,324 (GRCm39) |
K335N |
probably 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 |
|
|
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 |
|
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 |
|
| Posted On |
2012-12-21 |
Incidental Mutation