Incidental Mutation 'IGL02525:Slc34a1'
ID |
297074 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
IGL02525
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
55547435-55562508 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 55551051 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153038
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057167]
[ENSMUST00000224925]
[ENSMUST00000225259]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000057167
|
SMART Domains |
Protein: ENSMUSP00000059138 Gene: ENSMUSG00000021490
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 |
noncoding transcript
Transcript: ENSMUST00000224043
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224925
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225259
|
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 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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam18 |
C |
T |
8: 25,101,060 (GRCm39) |
V701I |
probably benign |
Het |
Adam18 |
A |
G |
8: 25,131,783 (GRCm39) |
|
probably benign |
Het |
Adamts20 |
G |
T |
15: 94,180,959 (GRCm39) |
|
probably null |
Het |
Adgrf5 |
G |
T |
17: 43,760,854 (GRCm39) |
V850F |
probably damaging |
Het |
Agap2 |
T |
A |
10: 126,919,070 (GRCm39) |
|
probably null |
Het |
Ap4b1 |
G |
A |
3: 103,720,164 (GRCm39) |
R62K |
probably damaging |
Het |
Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
Ccdc12 |
T |
A |
9: 110,540,169 (GRCm39) |
D120E |
probably damaging |
Het |
Ccdc22 |
A |
G |
X: 7,461,249 (GRCm39) |
S529P |
probably damaging |
Het |
Cilk1 |
A |
G |
9: 78,067,675 (GRCm39) |
K390E |
probably benign |
Het |
Col1a2 |
A |
G |
6: 4,531,355 (GRCm39) |
|
probably benign |
Het |
Ddx59 |
A |
T |
1: 136,344,743 (GRCm39) |
Q138L |
probably benign |
Het |
Dlc1 |
A |
T |
8: 37,046,800 (GRCm39) |
F1091L |
probably damaging |
Het |
Dnah1 |
C |
T |
14: 31,027,790 (GRCm39) |
V682M |
probably benign |
Het |
Dock9 |
C |
T |
14: 121,877,538 (GRCm39) |
D404N |
probably damaging |
Het |
Eif2b4 |
A |
G |
5: 31,346,962 (GRCm39) |
V402A |
probably damaging |
Het |
Erlin1 |
T |
C |
19: 44,027,634 (GRCm39) |
H268R |
probably benign |
Het |
Ermard |
T |
C |
17: 15,279,601 (GRCm39) |
|
probably benign |
Het |
Fam43a |
A |
G |
16: 30,419,596 (GRCm39) |
K60R |
probably benign |
Het |
Frmd4b |
T |
A |
6: 97,389,494 (GRCm39) |
D78V |
probably damaging |
Het |
Gabrq |
A |
G |
X: 71,880,430 (GRCm39) |
T308A |
possibly damaging |
Het |
Gipr |
A |
G |
7: 18,893,690 (GRCm39) |
C328R |
possibly damaging |
Het |
Gm17078 |
T |
C |
14: 51,848,680 (GRCm39) |
N19S |
possibly damaging |
Het |
Gm17541 |
T |
C |
12: 4,739,907 (GRCm39) |
|
probably benign |
Het |
Gm21759 |
T |
C |
5: 8,229,967 (GRCm39) |
|
probably benign |
Het |
Gm7964 |
A |
G |
7: 83,405,250 (GRCm39) |
|
noncoding transcript |
Het |
Gspt1 |
A |
G |
16: 11,048,854 (GRCm39) |
V318A |
probably damaging |
Het |
Gtf2ird2 |
A |
G |
5: 134,245,319 (GRCm39) |
S526G |
probably benign |
Het |
Hey2 |
A |
G |
10: 30,718,643 (GRCm39) |
M1T |
probably null |
Het |
Hipk3 |
T |
C |
2: 104,301,757 (GRCm39) |
D145G |
probably damaging |
Het |
Itgae |
A |
G |
11: 73,021,777 (GRCm39) |
D886G |
probably damaging |
Het |
Ktn1 |
T |
A |
14: 47,962,200 (GRCm39) |
|
probably null |
Het |
Med12l |
A |
G |
3: 58,975,789 (GRCm39) |
K239R |
probably benign |
Het |
Milr1 |
A |
T |
11: 106,656,101 (GRCm39) |
M124L |
probably benign |
Het |
Mon1b |
G |
T |
8: 114,365,455 (GRCm39) |
R261L |
possibly damaging |
Het |
Mterf1a |
G |
A |
5: 3,941,583 (GRCm39) |
S95F |
probably benign |
Het |
Myef2 |
C |
A |
2: 124,955,978 (GRCm39) |
|
probably benign |
Het |
Nfrkb |
T |
A |
9: 31,325,812 (GRCm39) |
I1085N |
possibly damaging |
Het |
Or13f5 |
A |
T |
4: 52,825,616 (GRCm39) |
Y73F |
probably damaging |
Het |
Or8d2 |
T |
A |
9: 38,759,536 (GRCm39) |
M42K |
possibly damaging |
Het |
Prodh |
G |
A |
16: 17,890,332 (GRCm39) |
Q430* |
probably null |
Het |
Pstk |
G |
T |
7: 130,972,922 (GRCm39) |
R7L |
probably benign |
Het |
Ptgr1 |
C |
A |
4: 58,978,067 (GRCm39) |
E108D |
probably benign |
Het |
Ptpn9 |
T |
A |
9: 56,944,009 (GRCm39) |
Y294* |
probably null |
Het |
Rnls |
C |
T |
19: 33,115,614 (GRCm39) |
V153M |
possibly damaging |
Het |
Ros1 |
T |
C |
10: 51,992,138 (GRCm39) |
T1362A |
possibly damaging |
Het |
Samt3 |
G |
A |
X: 85,090,527 (GRCm39) |
A140T |
possibly damaging |
Het |
Sbpl |
T |
A |
17: 24,173,837 (GRCm39) |
M16L |
unknown |
Het |
Sephs1 |
G |
A |
2: 4,911,407 (GRCm39) |
C327Y |
probably damaging |
Het |
Slc13a1 |
A |
T |
6: 24,137,135 (GRCm39) |
I93N |
probably damaging |
Het |
Slc7a9 |
T |
C |
7: 35,152,860 (GRCm39) |
S93P |
probably damaging |
Het |
Slx4 |
A |
G |
16: 3,798,461 (GRCm39) |
S1444P |
probably damaging |
Het |
Spmap2l |
T |
A |
5: 77,164,400 (GRCm39) |
D134E |
probably benign |
Het |
Stk32b |
C |
T |
5: 37,688,977 (GRCm39) |
V116M |
probably damaging |
Het |
Supt5 |
A |
G |
7: 28,018,372 (GRCm39) |
|
probably benign |
Het |
Syne2 |
T |
A |
12: 76,147,777 (GRCm39) |
S6439T |
probably damaging |
Het |
Taar7d |
A |
G |
10: 23,903,994 (GRCm39) |
D292G |
possibly damaging |
Het |
Tal2 |
A |
T |
4: 53,785,971 (GRCm39) |
I51F |
probably damaging |
Het |
Tk2 |
A |
T |
8: 104,970,032 (GRCm39) |
N77K |
probably benign |
Het |
Tmprss3 |
T |
A |
17: 31,413,865 (GRCm39) |
|
probably benign |
Het |
Tnfrsf10b |
T |
C |
14: 70,019,825 (GRCm39) |
M319T |
probably damaging |
Het |
Trim24 |
A |
G |
6: 37,922,653 (GRCm39) |
R417G |
probably damaging |
Het |
Ttn |
C |
A |
2: 76,594,658 (GRCm39) |
G18717* |
probably null |
Het |
Vmn2r102 |
A |
G |
17: 19,901,447 (GRCm39) |
T525A |
probably benign |
Het |
Wdr38 |
A |
T |
2: 38,888,424 (GRCm39) |
N7I |
probably damaging |
Het |
Wnt3 |
C |
T |
11: 103,703,296 (GRCm39) |
R260W |
probably damaging |
Het |
Xdh |
T |
A |
17: 74,231,990 (GRCm39) |
Q240L |
possibly damaging |
Het |
Zbtb5 |
T |
C |
4: 44,994,731 (GRCm39) |
T218A |
probably benign |
Het |
Znfx1 |
C |
T |
2: 166,879,457 (GRCm39) |
E776K |
probably benign |
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 |
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 |
R1732:Slc34a1
|
UTSW |
13 |
55,561,233 (GRCm39) |
missense |
probably benign |
|
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 |
|
Posted On |
2015-04-16 |