Incidental Mutation 'R5506:Slc20a1'
ID |
430906 |
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 |
043067-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5506 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
129040684-129053536 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 129052739 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 674
(F674L)
|
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: F674L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000028880 Gene: ENSMUSG00000027397 AA Change: F674L
Domain | Start | End | E-Value | Type |
Pfam:PHO4
|
43 |
667 |
1.8e-162 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110315
AA Change: F674L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000105944 Gene: ENSMUSG00000027397 AA Change: F674L
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 |
0.1007 |
Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.4%
- 20x: 91.4%
|
Validation Efficiency |
100% (53/53) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
G |
T |
3: 137,773,708 (GRCm39) |
G966W |
probably damaging |
Het |
A930009A15Rik |
G |
T |
10: 115,414,267 (GRCm39) |
|
probably null |
Het |
Cant1 |
G |
T |
11: 118,302,268 (GRCm39) |
H16Q |
probably benign |
Het |
Capn3 |
G |
T |
2: 120,332,901 (GRCm39) |
V612F |
probably damaging |
Het |
Cep112 |
A |
T |
11: 108,555,429 (GRCm39) |
E141D |
probably damaging |
Het |
Cept1 |
A |
G |
3: 106,438,564 (GRCm39) |
V173A |
probably benign |
Het |
CN725425 |
A |
G |
15: 91,120,029 (GRCm39) |
D50G |
possibly damaging |
Het |
Cubn |
A |
T |
2: 13,496,506 (GRCm39) |
|
probably null |
Het |
Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
Dpp8 |
A |
G |
9: 64,985,391 (GRCm39) |
|
probably null |
Het |
Ecm1 |
G |
A |
3: 95,643,169 (GRCm39) |
T377I |
probably benign |
Het |
Exosc8 |
A |
G |
3: 54,638,600 (GRCm39) |
|
probably benign |
Het |
Fasn |
C |
T |
11: 120,700,336 (GRCm39) |
D2165N |
probably benign |
Het |
Gab2 |
A |
G |
7: 96,952,320 (GRCm39) |
E571G |
probably damaging |
Het |
Galnt5 |
C |
A |
2: 57,889,637 (GRCm39) |
H412Q |
probably benign |
Het |
Galr1 |
T |
A |
18: 82,423,989 (GRCm39) |
Y96F |
possibly damaging |
Het |
Garin1b |
G |
A |
6: 29,319,297 (GRCm39) |
E34K |
probably damaging |
Het |
Gnl2 |
C |
A |
4: 124,949,158 (GRCm39) |
|
probably benign |
Het |
H2ac22 |
A |
C |
13: 21,971,081 (GRCm39) |
I103S |
probably damaging |
Het |
H2ax |
T |
C |
9: 44,246,402 (GRCm39) |
V115A |
probably benign |
Het |
Heatr9 |
T |
C |
11: 83,405,592 (GRCm39) |
N317S |
possibly damaging |
Het |
Kndc1 |
A |
G |
7: 139,507,804 (GRCm39) |
Y1254C |
probably damaging |
Het |
Lrp6 |
A |
T |
6: 134,436,259 (GRCm39) |
D1302E |
probably benign |
Het |
Mc2r |
A |
T |
18: 68,541,019 (GRCm39) |
Y91* |
probably null |
Het |
Meis1 |
T |
G |
11: 18,891,747 (GRCm39) |
D267A |
possibly damaging |
Het |
Mki67 |
T |
C |
7: 135,301,710 (GRCm39) |
K1108R |
possibly damaging |
Het |
Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
Myh3 |
T |
G |
11: 66,974,915 (GRCm39) |
D219E |
probably damaging |
Het |
Niban2 |
G |
A |
2: 32,810,994 (GRCm39) |
V335M |
probably damaging |
Het |
Or10g1b |
T |
C |
14: 52,628,084 (GRCm39) |
I49V |
probably damaging |
Het |
Or7e166 |
T |
C |
9: 19,624,570 (GRCm39) |
L149P |
possibly damaging |
Het |
Pi4ka |
A |
G |
16: 17,111,817 (GRCm39) |
C1553R |
probably damaging |
Het |
Plekhb1 |
C |
A |
7: 100,294,150 (GRCm39) |
|
probably null |
Het |
Polr3d |
A |
T |
14: 70,678,199 (GRCm39) |
D165E |
possibly damaging |
Het |
Prb1c |
T |
C |
6: 132,338,819 (GRCm39) |
N133S |
unknown |
Het |
Psmb1 |
A |
G |
17: 15,710,478 (GRCm39) |
Y24H |
probably damaging |
Het |
Rab11fip5 |
A |
G |
6: 85,351,119 (GRCm39) |
L131P |
probably damaging |
Het |
Raph1 |
A |
T |
1: 60,532,657 (GRCm39) |
|
probably benign |
Het |
Rmc1 |
A |
G |
18: 12,322,013 (GRCm39) |
|
probably benign |
Het |
Scgb2b27 |
T |
G |
7: 33,711,484 (GRCm39) |
|
probably benign |
Het |
Serpina10 |
T |
C |
12: 103,592,920 (GRCm39) |
D264G |
probably damaging |
Het |
Sftpb |
A |
G |
6: 72,281,651 (GRCm39) |
T15A |
possibly damaging |
Het |
Syne2 |
A |
T |
12: 75,985,495 (GRCm39) |
N1648Y |
probably benign |
Het |
Thsd7a |
G |
T |
6: 12,332,016 (GRCm39) |
N1265K |
possibly damaging |
Het |
Trem2 |
T |
C |
17: 48,658,802 (GRCm39) |
L189P |
probably benign |
Het |
Washc4 |
A |
T |
10: 83,417,201 (GRCm39) |
R865S |
probably damaging |
Het |
Zfp536 |
A |
G |
7: 37,268,217 (GRCm39) |
S400P |
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 |
|
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 |
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 |
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'- CAAACTGCTGGGTTCATCGC -3'
(R):5'- GGGACCTTGGAATGAATCAATG -3'
Sequencing Primer
(F):5'- TGGGTTCCCTGTCCCAAGTG -3'
(R):5'- CCTTGGAATGAATCAATGGAAACCTG -3'
|
Posted On |
2016-10-05 |