Incidental Mutation 'R6602:Slc34a3'
| ID |
525322 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R6602 (G1)
|
| Quality Score |
190.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
25118909-25124282 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 25119221 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 550
(S550P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006638
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006638]
[ENSMUST00000043584]
|
| AlphaFold |
Q80SU6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000006638
AA Change: S550P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000006638
Gene: ENSMUSG00000006469
AA Change: S550P
| 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: ENSMUST00000043584
|
| SMART Domains |
Protein: ENSMUSP00000042342
Gene: ENSMUSG00000036752
| Domain | Start | End | E-Value | Type |
|---|
|
Tubulin
|
47 |
244 |
1.04e-67 |
SMART |
|
Tubulin_C
|
246 |
383 |
3.89e-49 |
SMART |
|
low complexity region
|
428 |
445 |
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 |
noncoding transcript
Transcript: ENSMUST00000145607
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152997
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155420
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.6%
|
| Validation Efficiency |
100% (43/43) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022B05Rik |
A |
G |
8: 125,365,993 (GRCm39) |
L250P |
probably damaging |
Het |
| 4921539E11Rik |
T |
C |
4: 103,112,769 (GRCm39) |
H12R |
probably benign |
Het |
| Abca4 |
A |
C |
3: 121,932,150 (GRCm39) |
Q268P |
probably benign |
Het |
| Adgrf5 |
T |
A |
17: 43,761,195 (GRCm39) |
N963K |
probably benign |
Het |
| Arl10 |
A |
G |
13: 54,726,750 (GRCm39) |
D176G |
probably damaging |
Het |
| Btnl1 |
T |
A |
17: 34,604,722 (GRCm39) |
M501K |
probably damaging |
Het |
| Ccdc162 |
G |
T |
10: 41,491,976 (GRCm39) |
T1079K |
probably benign |
Het |
| Cd163 |
T |
A |
6: 124,288,594 (GRCm39) |
W342R |
probably damaging |
Het |
| Cd70 |
T |
C |
17: 57,456,562 (GRCm39) |
S14G |
probably benign |
Het |
| Chil4 |
C |
A |
3: 106,117,906 (GRCm39) |
K121N |
probably benign |
Het |
| Csf1r |
A |
G |
18: 61,243,497 (GRCm39) |
D171G |
possibly damaging |
Het |
| Cyp4a31 |
A |
T |
4: 115,426,904 (GRCm39) |
|
probably null |
Het |
| Dapk1 |
A |
T |
13: 60,897,018 (GRCm39) |
I746F |
probably benign |
Het |
| Erbb4 |
A |
G |
1: 68,409,662 (GRCm39) |
S192P |
probably damaging |
Het |
| Exoc8 |
C |
A |
8: 125,623,150 (GRCm39) |
V406L |
probably damaging |
Het |
| Fam168b |
C |
A |
1: 34,875,822 (GRCm39) |
G21V |
probably damaging |
Het |
| Greb1 |
A |
T |
12: 16,759,441 (GRCm39) |
V652E |
probably benign |
Het |
| Ift88 |
A |
G |
14: 57,744,716 (GRCm39) |
S745G |
probably benign |
Het |
| Il18bp |
T |
C |
7: 101,665,237 (GRCm39) |
|
probably benign |
Het |
| Il6st |
A |
G |
13: 112,640,947 (GRCm39) |
T908A |
probably damaging |
Het |
| Klk1b11 |
A |
G |
7: 43,424,198 (GRCm39) |
S6G |
probably benign |
Het |
| Mastl |
T |
C |
2: 23,022,689 (GRCm39) |
Y678C |
probably benign |
Het |
| Msra |
A |
T |
14: 64,360,788 (GRCm39) |
H184Q |
probably benign |
Het |
| Muc16 |
A |
C |
9: 18,520,772 (GRCm39) |
|
probably null |
Het |
| Myo3a |
T |
G |
2: 22,467,799 (GRCm39) |
L351R |
probably damaging |
Het |
| Npy5r |
GCTGTGAAACACTG |
GCTG |
8: 67,134,192 (GRCm39) |
|
probably null |
Het |
| Or4d2 |
T |
C |
11: 87,784,478 (GRCm39) |
T91A |
probably benign |
Het |
| Or7d11 |
C |
T |
9: 19,966,342 (GRCm39) |
R139Q |
probably benign |
Het |
| Or7g18 |
A |
G |
9: 18,787,145 (GRCm39) |
D174G |
possibly damaging |
Het |
| Pcdhb18 |
A |
T |
18: 37,623,533 (GRCm39) |
I288F |
probably damaging |
Het |
| Pitpna |
T |
G |
11: 75,511,141 (GRCm39) |
V238G |
possibly damaging |
Het |
| Ppfibp1 |
T |
A |
6: 146,879,719 (GRCm39) |
V81E |
possibly damaging |
Het |
| Rab11fip2 |
T |
A |
19: 59,931,288 (GRCm39) |
T49S |
probably damaging |
Het |
| Rsl24d1 |
T |
A |
9: 73,020,792 (GRCm39) |
I3N |
possibly damaging |
Het |
| Rtn1 |
T |
C |
12: 72,266,092 (GRCm39) |
N161S |
probably damaging |
Het |
| Shank1 |
A |
G |
7: 44,001,760 (GRCm39) |
I1151V |
probably benign |
Het |
| Slc4a1ap |
A |
G |
5: 31,684,985 (GRCm39) |
H207R |
probably damaging |
Het |
| Sphkap |
T |
A |
1: 83,253,479 (GRCm39) |
K1423N |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,712,097 (GRCm39) |
|
probably benign |
Het |
| Ubqln5 |
T |
A |
7: 103,778,696 (GRCm39) |
S43C |
probably benign |
Het |
| Vps13d |
G |
A |
4: 144,830,234 (GRCm39) |
|
probably benign |
Het |
| Wwp1 |
A |
T |
4: 19,641,816 (GRCm39) |
V413D |
probably damaging |
Het |
| Zfp267 |
G |
T |
3: 36,219,004 (GRCm39) |
L341F |
possibly damaging |
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 |
|
IGL03278:Slc34a3
|
APN |
2 |
25,122,059 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGCCCTGAAGCTAGTGGAG -3'
(R):5'- GAAACCTGACTGCCCAGTATCG -3'
Sequencing Primer
(F):5'- AGCTGGCTATGGTACCCAC -3'
(R):5'- GGGTGGCCATTGTCTACCTAC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation