Incidental Mutation 'IGL03278:Slc34a3'
| ID |
415485 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc34a3
|
| Ensembl Gene |
ENSMUSG00000006469 |
| Gene Name |
solute carrier family 34 (sodium phosphate), member 3 |
| Synonyms |
Npt2c, NPTIIc |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.221)
|
| Stock # |
IGL03278
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
25118909-25124282 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 25122059 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 154
(V154E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006638
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006638]
[ENSMUST00000091318]
[ENSMUST00000205192]
|
| AlphaFold |
Q80SU6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006638
AA Change: V154E
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000006638
Gene: ENSMUSG00000006469
AA Change: V154E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Na_Pi_cotrans
|
84 |
231 |
1.8e-25 |
PFAM |
|
low complexity region
|
254 |
269 |
N/A |
INTRINSIC |
|
Pfam:Na_Pi_cotrans
|
337 |
538 |
1.1e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091318
|
| SMART Domains |
Protein: ENSMUSP00000088868
Gene: ENSMUSG00000089953
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
23 |
69 |
8.23e-6 |
SMART |
|
low complexity region
|
137 |
148 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091318
|
| SMART Domains |
Protein: ENSMUSP00000145470
Gene: ENSMUSG00000089953
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
23 |
69 |
8.23e-6 |
SMART |
|
low complexity region
|
137 |
148 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124146
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137482
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142095
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144884
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205192
|
| SMART Domains |
Protein: ENSMUSP00000145127
Gene: ENSMUSG00000089953
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
23 |
69 |
8.23e-6 |
SMART |
|
low complexity region
|
137 |
148 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152997
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155420
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of SLC34A transporter family of proteins, and is expressed primarily in the kidney. It is involved in transporting phosphate into cells via sodium cotransport in the renal brush border membrane, and contributes to the maintenance of inorganic phosphate concentration in the kidney. Mutations in this gene are associated with hereditary hypophosphatemic rickets with hypercalciuria. Alternatively spliced transcript variants varying in the 5' UTR have been found for this gene.[provided by RefSeq, Apr 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit hypercalciuria, hypercalcemia and increased plasma 1,25(OH)2D3 levels but do not develop hypophosphatemia, renal calcification, rickets, or osteomalacia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
A |
12: 71,205,599 (GRCm39) |
|
probably benign |
Het |
| Acss2 |
A |
G |
2: 155,403,921 (GRCm39) |
D676G |
possibly damaging |
Het |
| Antxr1 |
A |
G |
6: 87,181,439 (GRCm39) |
|
probably benign |
Het |
| Ccdc134 |
C |
T |
15: 82,015,682 (GRCm39) |
A54V |
possibly damaging |
Het |
| Ccdc40 |
A |
T |
11: 119,133,336 (GRCm39) |
I465F |
probably damaging |
Het |
| Cdk5rap1 |
A |
T |
2: 154,212,622 (GRCm39) |
S79T |
probably benign |
Het |
| Col6a6 |
T |
C |
9: 105,586,651 (GRCm39) |
E1790G |
probably benign |
Het |
| Cops8 |
C |
A |
1: 90,532,087 (GRCm39) |
|
probably null |
Het |
| Dnah7a |
T |
C |
1: 53,536,124 (GRCm39) |
T2640A |
probably benign |
Het |
| F2 |
G |
A |
2: 91,465,527 (GRCm39) |
A86V |
probably benign |
Het |
| Fhip1b |
C |
A |
7: 105,034,331 (GRCm39) |
M433I |
possibly damaging |
Het |
| Gabrb1 |
T |
G |
5: 72,026,939 (GRCm39) |
D113E |
probably damaging |
Het |
| Git2 |
C |
A |
5: 114,883,640 (GRCm39) |
|
probably benign |
Het |
| Git2 |
A |
T |
5: 114,883,641 (GRCm39) |
|
probably null |
Het |
| Gm4847 |
A |
T |
1: 166,462,605 (GRCm39) |
I295N |
probably benign |
Het |
| H2-M10.6 |
C |
A |
17: 37,124,715 (GRCm39) |
H211N |
probably damaging |
Het |
| Hmgcr |
A |
G |
13: 96,793,270 (GRCm39) |
|
probably benign |
Het |
| Larp1 |
T |
C |
11: 57,934,882 (GRCm39) |
|
probably benign |
Het |
| Lrguk |
A |
G |
6: 34,093,381 (GRCm39) |
E634G |
possibly damaging |
Het |
| Nanog |
A |
G |
6: 122,688,704 (GRCm39) |
Y95C |
probably damaging |
Het |
| Nelfcd |
G |
A |
2: 174,268,625 (GRCm39) |
A559T |
possibly damaging |
Het |
| Nfe2l1 |
C |
A |
11: 96,713,018 (GRCm39) |
R55L |
probably benign |
Het |
| Or1f19 |
C |
T |
16: 3,410,971 (GRCm39) |
A237V |
possibly damaging |
Het |
| Pkmyt1 |
A |
G |
17: 23,953,221 (GRCm39) |
E259G |
probably damaging |
Het |
| Pld4 |
A |
G |
12: 112,733,165 (GRCm39) |
N247S |
probably damaging |
Het |
| Prdm4 |
A |
T |
10: 85,743,622 (GRCm39) |
M211K |
probably damaging |
Het |
| Rab37 |
A |
C |
11: 115,050,517 (GRCm39) |
I121L |
possibly damaging |
Het |
| Rabl6 |
T |
C |
2: 25,473,834 (GRCm39) |
|
probably benign |
Het |
| Slc38a9 |
T |
G |
13: 112,826,052 (GRCm39) |
|
probably benign |
Het |
| Sptlc3 |
G |
A |
2: 139,431,579 (GRCm39) |
G367D |
probably damaging |
Het |
| Stk24 |
T |
C |
14: 121,540,182 (GRCm39) |
K139R |
possibly damaging |
Het |
| Tacc2 |
T |
C |
7: 130,335,298 (GRCm39) |
|
probably null |
Het |
| Tap1 |
A |
T |
17: 34,410,457 (GRCm39) |
K378M |
probably damaging |
Het |
| Tfr2 |
A |
T |
5: 137,569,298 (GRCm39) |
R10* |
probably null |
Het |
| Trim38 |
A |
G |
13: 23,974,979 (GRCm39) |
D306G |
possibly damaging |
Het |
| Ttc6 |
A |
T |
12: 57,668,812 (GRCm39) |
K418I |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 188,581,313 (GRCm39) |
L3731Q |
probably damaging |
Het |
| Vmn2r89 |
A |
T |
14: 51,692,557 (GRCm39) |
Y120F |
probably damaging |
Het |
| Vps35 |
A |
T |
8: 86,021,590 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Slc34a3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02422:Slc34a3
|
APN |
2 |
25,122,275 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02885:Slc34a3
|
APN |
2 |
25,121,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03131:Slc34a3
|
APN |
2 |
25,121,246 (GRCm39) |
missense |
probably benign |
|
|
IGL03166:Slc34a3
|
APN |
2 |
25,122,186 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4544001:Slc34a3
|
UTSW |
2 |
25,120,607 (GRCm39) |
missense |
probably benign |
0.27 |
|
R0415:Slc34a3
|
UTSW |
2 |
25,119,122 (GRCm39) |
missense |
probably benign |
|
|
R0558:Slc34a3
|
UTSW |
2 |
25,123,077 (GRCm39) |
unclassified |
probably benign |
|
|
R0883:Slc34a3
|
UTSW |
2 |
25,121,245 (GRCm39) |
missense |
probably benign |
|
|
R2107:Slc34a3
|
UTSW |
2 |
25,120,999 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2329:Slc34a3
|
UTSW |
2 |
25,119,422 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3108:Slc34a3
|
UTSW |
2 |
25,119,257 (GRCm39) |
missense |
probably benign |
|
|
R4637:Slc34a3
|
UTSW |
2 |
25,119,473 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5008:Slc34a3
|
UTSW |
2 |
25,120,854 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R5341:Slc34a3
|
UTSW |
2 |
25,120,671 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5623:Slc34a3
|
UTSW |
2 |
25,123,312 (GRCm39) |
splice site |
probably null |
|
|
R6602:Slc34a3
|
UTSW |
2 |
25,119,221 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7512:Slc34a3
|
UTSW |
2 |
25,122,253 (GRCm39) |
splice site |
probably null |
|
|
R7784:Slc34a3
|
UTSW |
2 |
25,122,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8072:Slc34a3
|
UTSW |
2 |
25,119,289 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8730:Slc34a3
|
UTSW |
2 |
25,122,057 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8762:Slc34a3
|
UTSW |
2 |
25,121,003 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8880:Slc34a3
|
UTSW |
2 |
25,119,267 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1176:Slc34a3
|
UTSW |
2 |
25,119,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation