Incidental Mutation 'R1732:Slc34a1'
| ID |
199416 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc34a1
|
| Ensembl Gene |
ENSMUSG00000021490 |
| Gene Name |
solute carrier family 34 (sodium phosphate), member 1 |
| Synonyms |
Slc17a2, Npt2, Na/Pi cotransporter, renal Na+/Pi transporter, NaPi-IIa |
| MMRRC Submission |
039764-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R1732 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
55547435-55562508 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 55561233 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 566
(H566R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153038
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021948]
[ENSMUST00000054146]
[ENSMUST00000057167]
[ENSMUST00000170921]
[ENSMUST00000224925]
[ENSMUST00000225259]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021948
|
| SMART Domains |
Protein: ENSMUSP00000021948
Gene: ENSMUSG00000021492
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
FN2
|
40 |
88 |
4.3e-24 |
SMART |
|
EGF
|
97 |
131 |
4.22e-4 |
SMART |
|
FN1
|
135 |
175 |
2.4e-13 |
SMART |
|
EGF
|
177 |
210 |
3.94e-4 |
SMART |
|
KR
|
215 |
297 |
6.88e-27 |
SMART |
|
low complexity region
|
302 |
320 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
354 |
591 |
7.74e-90 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054146
|
| SMART Domains |
Protein: ENSMUSP00000054053
Gene: ENSMUSG00000044444
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Profilin
|
3 |
132 |
7.5e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057167
AA Change: H566R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000059138
Gene: ENSMUSG00000021490
AA Change: H566R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Na_Pi_cotrans
|
113 |
256 |
7.4e-28 |
PFAM |
|
Pfam:Na_Pi_cotrans
|
359 |
549 |
2.3e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170921
|
| SMART Domains |
Protein: ENSMUSP00000125771
Gene: ENSMUSG00000021492
| Domain | Start | End | E-Value | Type |
|---|
|
Tryp_SPc
|
2 |
137 |
3.4e-7 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223954
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224043
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224925
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225259
AA Change: H566R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225538
|
| Meta Mutation Damage Score |
0.0827 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.1%
- 20x: 91.6%
|
| Validation Efficiency |
99% (78/79) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the type II sodium-phosphate cotransporter family. Mutations in this gene are associated with hypophosphatemia nephrolithiasis/osteoporosis 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]
PHENOTYPE: Homozygous null mice exhibit renal phosphate wasting, hyerpcalciuria, and skeletal abnormalities. Postnatal viability is reduced, putatively due to poor nutritional status. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
C |
A |
12: 71,265,995 (GRCm39) |
Q1445K |
probably benign |
Het |
| Acacb |
A |
T |
5: 114,328,148 (GRCm39) |
M303L |
possibly damaging |
Het |
| Actl9 |
T |
C |
17: 33,652,096 (GRCm39) |
V52A |
probably damaging |
Het |
| Adam7 |
T |
C |
14: 68,735,899 (GRCm39) |
T781A |
probably benign |
Het |
| Agpat4 |
T |
C |
17: 12,435,615 (GRCm39) |
V293A |
probably benign |
Het |
| Ank1 |
T |
A |
8: 23,601,479 (GRCm39) |
|
probably benign |
Het |
| Atp1a1 |
C |
A |
3: 101,492,115 (GRCm39) |
G587V |
probably damaging |
Het |
| Avpr1b |
T |
C |
1: 131,527,992 (GRCm39) |
F172L |
probably damaging |
Het |
| Bmp1 |
A |
T |
14: 70,723,705 (GRCm39) |
D710E |
possibly damaging |
Het |
| Cep126 |
A |
T |
9: 8,099,762 (GRCm39) |
I924N |
probably benign |
Het |
| Chek2 |
G |
T |
5: 111,019,968 (GRCm39) |
A517S |
probably benign |
Het |
| Cmbl |
A |
T |
15: 31,588,378 (GRCm39) |
E165D |
probably damaging |
Het |
| Cntnap3 |
A |
T |
13: 64,888,626 (GRCm39) |
|
probably null |
Het |
| Col1a1 |
A |
T |
11: 94,835,241 (GRCm39) |
|
probably benign |
Het |
| Ctbp2 |
T |
C |
7: 132,600,653 (GRCm39) |
M624V |
possibly damaging |
Het |
| Cwc15 |
A |
G |
9: 14,421,543 (GRCm39) |
D203G |
probably benign |
Het |
| Cyld |
C |
T |
8: 89,458,295 (GRCm39) |
|
probably benign |
Het |
| Cyp3a57 |
A |
T |
5: 145,302,455 (GRCm39) |
I84F |
probably damaging |
Het |
| Dennd3 |
T |
A |
15: 73,409,267 (GRCm39) |
|
probably benign |
Het |
| Desi2 |
A |
C |
1: 178,084,217 (GRCm39) |
|
probably benign |
Het |
| Dmxl1 |
T |
A |
18: 50,026,511 (GRCm39) |
L1873* |
probably null |
Het |
| Dmxl1 |
T |
A |
18: 50,036,055 (GRCm39) |
H2359Q |
probably benign |
Het |
| Ephb4 |
A |
G |
5: 137,370,440 (GRCm39) |
N880S |
possibly damaging |
Het |
| F10 |
T |
C |
8: 13,100,764 (GRCm39) |
L214P |
probably damaging |
Het |
| F5 |
G |
A |
1: 164,001,719 (GRCm39) |
V141M |
probably damaging |
Het |
| Fam135a |
A |
T |
1: 24,065,734 (GRCm39) |
S1022T |
possibly damaging |
Het |
| Fam13b |
A |
T |
18: 34,620,187 (GRCm39) |
N232K |
probably benign |
Het |
| Fyco1 |
T |
C |
9: 123,648,157 (GRCm39) |
E1259G |
probably benign |
Het |
| Gak |
A |
T |
5: 108,724,448 (GRCm39) |
D1087E |
probably benign |
Het |
| Gm7138 |
A |
T |
10: 77,612,682 (GRCm39) |
|
probably benign |
Het |
| Gm8674 |
T |
A |
13: 50,055,962 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr25 |
A |
G |
1: 136,187,866 (GRCm39) |
V249A |
probably benign |
Het |
| Hcn3 |
T |
C |
3: 89,055,426 (GRCm39) |
H607R |
probably damaging |
Het |
| Hdac4 |
T |
A |
1: 91,875,257 (GRCm39) |
T905S |
probably benign |
Het |
| Itgad |
T |
C |
7: 127,804,279 (GRCm39) |
S86P |
probably benign |
Het |
| Itgb4 |
G |
T |
11: 115,879,744 (GRCm39) |
R632L |
probably damaging |
Het |
| Kcnb2 |
A |
T |
1: 15,779,979 (GRCm39) |
T284S |
probably benign |
Het |
| Klhl22 |
T |
A |
16: 17,594,888 (GRCm39) |
M339K |
probably damaging |
Het |
| Lonrf2 |
G |
A |
1: 38,852,357 (GRCm39) |
P165S |
probably benign |
Het |
| Mybpc2 |
C |
A |
7: 44,163,099 (GRCm39) |
V484L |
probably benign |
Het |
| Noa1 |
A |
T |
5: 77,454,221 (GRCm39) |
V473E |
probably benign |
Het |
| Nwd1 |
C |
G |
8: 73,393,463 (GRCm39) |
S242C |
possibly damaging |
Het |
| Or55b10 |
C |
A |
7: 102,143,247 (GRCm39) |
C245F |
probably damaging |
Het |
| Or7e174 |
A |
G |
9: 20,012,796 (GRCm39) |
H247R |
probably damaging |
Het |
| Otof |
A |
T |
5: 30,543,815 (GRCm39) |
W535R |
probably damaging |
Het |
| Peg3 |
T |
C |
7: 6,712,084 (GRCm39) |
E1046G |
possibly damaging |
Het |
| Phldb2 |
T |
C |
16: 45,577,529 (GRCm39) |
E1132G |
probably damaging |
Het |
| Phtf2 |
A |
T |
5: 20,994,625 (GRCm39) |
|
probably null |
Het |
| Plce1 |
G |
T |
19: 38,705,282 (GRCm39) |
A896S |
possibly damaging |
Het |
| Prim1 |
T |
C |
10: 127,851,193 (GRCm39) |
Y26H |
probably damaging |
Het |
| Prr12 |
T |
A |
7: 44,697,780 (GRCm39) |
T712S |
unknown |
Het |
| Psme4 |
G |
A |
11: 30,798,105 (GRCm39) |
R1366H |
probably benign |
Het |
| Ptpdc1 |
T |
C |
13: 48,740,021 (GRCm39) |
E409G |
probably benign |
Het |
| Rabep1 |
A |
G |
11: 70,795,467 (GRCm39) |
N274S |
probably damaging |
Het |
| Rbm14 |
A |
G |
19: 4,853,495 (GRCm39) |
S296P |
probably benign |
Het |
| Rec114 |
A |
G |
9: 58,560,389 (GRCm39) |
S206P |
probably damaging |
Het |
| Rps6ka1 |
A |
T |
4: 133,587,381 (GRCm39) |
Y531N |
probably damaging |
Het |
| Slc28a2 |
T |
C |
2: 122,280,239 (GRCm39) |
|
probably benign |
Het |
| Slc9c1 |
A |
G |
16: 45,373,291 (GRCm39) |
T290A |
probably benign |
Het |
| Smarcc1 |
T |
A |
9: 110,014,888 (GRCm39) |
|
probably benign |
Het |
| Srp54b |
T |
A |
12: 55,299,544 (GRCm39) |
|
probably null |
Het |
| Stambpl1 |
C |
G |
19: 34,204,121 (GRCm39) |
N70K |
probably damaging |
Het |
| Synj1 |
T |
C |
16: 90,761,118 (GRCm39) |
K710E |
probably damaging |
Het |
| Tenm3 |
T |
A |
8: 48,763,669 (GRCm39) |
D795V |
probably damaging |
Het |
| Tgm2 |
T |
C |
2: 157,976,277 (GRCm39) |
Y149C |
probably damaging |
Het |
| Tmem151a |
C |
A |
19: 5,132,895 (GRCm39) |
A104S |
probably damaging |
Het |
| Top1mt |
A |
G |
15: 75,538,100 (GRCm39) |
|
probably null |
Het |
| Tpgs1 |
T |
A |
10: 79,511,428 (GRCm39) |
L190Q |
possibly damaging |
Het |
| Triobp |
T |
A |
15: 78,851,428 (GRCm39) |
H527Q |
possibly damaging |
Het |
| Tspan2 |
A |
G |
3: 102,676,193 (GRCm39) |
I197V |
probably damaging |
Het |
| Ube3b |
A |
G |
5: 114,525,506 (GRCm39) |
I76V |
probably benign |
Het |
| Vmn1r32 |
A |
T |
6: 66,530,285 (GRCm39) |
S164T |
probably benign |
Het |
| Zfp607a |
G |
T |
7: 27,577,884 (GRCm39) |
C318F |
probably damaging |
Het |
|
| Other mutations in Slc34a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00820:Slc34a1
|
APN |
13 |
24,003,317 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL01120:Slc34a1
|
APN |
13 |
55,556,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01396:Slc34a1
|
APN |
13 |
55,550,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01405:Slc34a1
|
APN |
13 |
55,559,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01511:Slc34a1
|
APN |
13 |
24,003,121 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01624:Slc34a1
|
APN |
13 |
23,998,969 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01839:Slc34a1
|
APN |
13 |
23,996,668 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02010:Slc34a1
|
APN |
13 |
24,003,025 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02525:Slc34a1
|
APN |
13 |
55,551,051 (GRCm39) |
splice site |
probably benign |
|
|
IGL02555:Slc34a1
|
APN |
13 |
55,548,981 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL02692:Slc34a1
|
APN |
13 |
55,551,049 (GRCm39) |
splice site |
probably benign |
|
|
IGL03173:Slc34a1
|
APN |
13 |
55,561,089 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03221:Slc34a1
|
APN |
13 |
55,548,591 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03299:Slc34a1
|
APN |
13 |
24,005,094 (GRCm39) |
critical splice donor site |
probably null |
|
|
Rockies
|
UTSW |
13 |
24,003,317 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0190:Slc34a1
|
UTSW |
13 |
55,556,914 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0196:Slc34a1
|
UTSW |
13 |
55,560,078 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0362:Slc34a1
|
UTSW |
13 |
55,550,711 (GRCm39) |
splice site |
probably null |
|
|
R0622:Slc34a1
|
UTSW |
13 |
23,996,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1055:Slc34a1
|
UTSW |
13 |
55,550,846 (GRCm39) |
missense |
probably benign |
0.26 |
|
R1104:Slc34a1
|
UTSW |
13 |
24,003,920 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1243:Slc34a1
|
UTSW |
13 |
55,559,944 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1414:Slc34a1
|
UTSW |
13 |
55,548,524 (GRCm39) |
missense |
probably benign |
|
|
R1530:Slc34a1
|
UTSW |
13 |
24,003,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1566:Slc34a1
|
UTSW |
13 |
55,559,844 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1682:Slc34a1
|
UTSW |
13 |
23,996,623 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1901:Slc34a1
|
UTSW |
13 |
55,548,963 (GRCm39) |
nonsense |
probably null |
|
|
R2255:Slc34a1
|
UTSW |
13 |
24,004,991 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2423:Slc34a1
|
UTSW |
13 |
55,556,865 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R2986:Slc34a1
|
UTSW |
13 |
55,551,142 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3940:Slc34a1
|
UTSW |
13 |
55,560,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4003:Slc34a1
|
UTSW |
13 |
55,550,474 (GRCm39) |
splice site |
probably benign |
|
|
R4553:Slc34a1
|
UTSW |
13 |
55,559,874 (GRCm39) |
splice site |
probably null |
|
|
R4735:Slc34a1
|
UTSW |
13 |
55,561,397 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4923:Slc34a1
|
UTSW |
13 |
24,003,078 (GRCm39) |
missense |
probably benign |
0.20 |
|
R5177:Slc34a1
|
UTSW |
13 |
55,548,975 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5193:Slc34a1
|
UTSW |
13 |
24,003,845 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5321:Slc34a1
|
UTSW |
13 |
23,996,614 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5334:Slc34a1
|
UTSW |
13 |
24,003,034 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5345:Slc34a1
|
UTSW |
13 |
55,548,331 (GRCm39) |
missense |
probably benign |
|
|
R5363:Slc34a1
|
UTSW |
13 |
55,560,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5363:Slc34a1
|
UTSW |
13 |
55,551,081 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5377:Slc34a1
|
UTSW |
13 |
23,996,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5668:Slc34a1
|
UTSW |
13 |
55,556,898 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5685:Slc34a1
|
UTSW |
13 |
55,549,085 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5782:Slc34a1
|
UTSW |
13 |
55,550,501 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5836:Slc34a1
|
UTSW |
13 |
55,561,278 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6047:Slc34a1
|
UTSW |
13 |
55,559,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6165:Slc34a1
|
UTSW |
13 |
23,999,053 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6280:Slc34a1
|
UTSW |
13 |
24,006,377 (GRCm39) |
missense |
probably benign |
|
|
R6311:Slc34a1
|
UTSW |
13 |
23,999,005 (GRCm39) |
missense |
probably benign |
0.40 |
|
R6323:Slc34a1
|
UTSW |
13 |
23,998,969 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6476:Slc34a1
|
UTSW |
13 |
23,996,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6496:Slc34a1
|
UTSW |
13 |
55,550,495 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6814:Slc34a1
|
UTSW |
13 |
24,006,372 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R7155:Slc34a1
|
UTSW |
13 |
24,006,390 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7158:Slc34a1
|
UTSW |
13 |
55,549,044 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7188:Slc34a1
|
UTSW |
13 |
24,006,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7288:Slc34a1
|
UTSW |
13 |
24,003,095 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7384:Slc34a1
|
UTSW |
13 |
55,550,747 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7462:Slc34a1
|
UTSW |
13 |
24,006,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7694:Slc34a1
|
UTSW |
13 |
55,561,221 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7808:Slc34a1
|
UTSW |
13 |
24,003,317 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7937:Slc34a1
|
UTSW |
13 |
23,996,648 (GRCm39) |
missense |
probably benign |
|
|
R8444:Slc34a1
|
UTSW |
13 |
24,003,061 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8447:Slc34a1
|
UTSW |
13 |
24,006,309 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8932:Slc34a1
|
UTSW |
13 |
24,004,184 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8977:Slc34a1
|
UTSW |
13 |
55,556,815 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9635:Slc34a1
|
UTSW |
13 |
55,556,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0022:Slc34a1
|
UTSW |
13 |
55,550,828 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTACCGCTGGTTTGCTGTCCTC -3'
(R):5'- GCATGTACCTCAAGTGACACGCATC -3'
Sequencing Primer
(F):5'- GGTTTGCTGTCCTCTACCTG -3'
(R):5'- GTGGGCATTGTAAAAATACCACTCC -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation