Incidental Mutation 'IGL02010:Slc34a1'
ID |
183294 |
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 # |
IGL02010
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
55547435-55562508 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 24003025 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glycine
at position 225
(V225G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097288
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006786]
[ENSMUST00000099697]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000006786
AA Change: V225G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000006786 Gene: ENSMUSG00000036110 AA Change: V225G
Domain | Start | End | E-Value | Type |
Pfam:MFS_1
|
19 |
425 |
3.5e-44 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000099697
AA Change: V225G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000097288 Gene: ENSMUSG00000036110 AA Change: V225G
Domain | Start | End | E-Value | Type |
Pfam:MFS_1
|
19 |
425 |
2.9e-45 |
PFAM |
transmembrane domain
|
443 |
462 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139572
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141717
|
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca6 |
T |
C |
11: 110,110,442 (GRCm39) |
D569G |
probably benign |
Het |
Abhd17b |
C |
T |
19: 21,661,485 (GRCm39) |
T224I |
probably benign |
Het |
Atf6b |
T |
A |
17: 34,873,626 (GRCm39) |
S695R |
probably benign |
Het |
Cdh6 |
A |
C |
15: 13,034,276 (GRCm39) |
|
probably benign |
Het |
Cep290 |
G |
T |
10: 100,344,569 (GRCm39) |
C462F |
probably benign |
Het |
Cep290 |
T |
C |
10: 100,397,207 (GRCm39) |
S2156P |
probably benign |
Het |
Cfap20dc |
A |
T |
14: 8,578,384 (GRCm38) |
H119Q |
possibly damaging |
Het |
Cit |
T |
C |
5: 116,014,006 (GRCm39) |
F240L |
probably damaging |
Het |
Col1a2 |
T |
A |
6: 4,512,416 (GRCm39) |
|
probably null |
Het |
Ctcf |
T |
A |
8: 106,391,597 (GRCm39) |
H297Q |
probably damaging |
Het |
Dhx29 |
T |
C |
13: 113,103,168 (GRCm39) |
|
probably null |
Het |
Dhx37 |
T |
G |
5: 125,495,777 (GRCm39) |
T835P |
possibly damaging |
Het |
Enc1 |
C |
T |
13: 97,381,588 (GRCm39) |
L33F |
possibly damaging |
Het |
Epyc |
T |
A |
10: 97,485,563 (GRCm39) |
M1K |
probably null |
Het |
F10 |
T |
C |
8: 13,098,292 (GRCm39) |
I165T |
probably damaging |
Het |
Fam124a |
T |
C |
14: 62,824,728 (GRCm39) |
L74P |
probably damaging |
Het |
Fam234b |
A |
G |
6: 135,186,405 (GRCm39) |
S138G |
probably benign |
Het |
Fam81a |
T |
C |
9: 70,006,419 (GRCm39) |
K198E |
probably benign |
Het |
Fbn2 |
T |
C |
18: 58,170,794 (GRCm39) |
Y2199C |
probably damaging |
Het |
Fign |
A |
C |
2: 63,810,744 (GRCm39) |
S175R |
probably damaging |
Het |
Grik1 |
T |
C |
16: 87,848,396 (GRCm39) |
N124S |
possibly damaging |
Het |
Hdac9 |
G |
T |
12: 34,481,944 (GRCm39) |
L175M |
probably damaging |
Het |
Hephl1 |
A |
C |
9: 15,001,852 (GRCm39) |
Y163* |
probably null |
Het |
Hes1 |
G |
A |
16: 29,886,128 (GRCm39) |
G244D |
probably damaging |
Het |
Hexb |
A |
G |
13: 97,313,353 (GRCm39) |
L501P |
probably benign |
Het |
Igkv5-43 |
T |
C |
6: 69,752,936 (GRCm39) |
I49V |
probably benign |
Het |
Ipo5 |
T |
C |
14: 121,170,789 (GRCm39) |
S491P |
probably benign |
Het |
Jakmip2 |
C |
T |
18: 43,692,158 (GRCm39) |
|
probably null |
Het |
Lrfn5 |
A |
G |
12: 61,886,469 (GRCm39) |
T86A |
probably damaging |
Het |
Lrp1b |
T |
C |
2: 41,358,954 (GRCm39) |
T640A |
probably damaging |
Het |
M6pr |
G |
T |
6: 122,292,085 (GRCm39) |
R139L |
possibly damaging |
Het |
Myl9 |
A |
T |
2: 156,620,579 (GRCm39) |
N39Y |
probably damaging |
Het |
Nlrp3 |
A |
G |
11: 59,440,361 (GRCm39) |
D646G |
probably benign |
Het |
Nlrp5 |
A |
T |
7: 23,116,797 (GRCm39) |
M174L |
probably benign |
Het |
Nnmt |
T |
A |
9: 48,503,331 (GRCm39) |
I232F |
probably damaging |
Het |
Nrg1 |
T |
C |
8: 32,408,171 (GRCm39) |
T21A |
probably benign |
Het |
Or5t15 |
C |
T |
2: 86,681,541 (GRCm39) |
C167Y |
possibly damaging |
Het |
Or6c65 |
A |
G |
10: 129,604,136 (GRCm39) |
Y257C |
probably benign |
Het |
Pcare |
T |
A |
17: 72,056,459 (GRCm39) |
T1073S |
probably benign |
Het |
Pcdh7 |
T |
G |
5: 58,286,597 (GRCm39) |
N1224K |
probably benign |
Het |
Pde4a |
T |
C |
9: 21,114,850 (GRCm39) |
|
probably null |
Het |
Pfkfb3 |
T |
C |
2: 11,488,805 (GRCm39) |
T320A |
probably benign |
Het |
Plekhm2 |
T |
C |
4: 141,364,730 (GRCm39) |
|
probably benign |
Het |
Rabgap1l |
C |
T |
1: 160,299,641 (GRCm39) |
R584H |
probably damaging |
Het |
Rnf157 |
T |
A |
11: 116,287,052 (GRCm39) |
N57I |
probably damaging |
Het |
Rtf1 |
G |
A |
2: 119,531,747 (GRCm39) |
|
probably null |
Het |
Sap130 |
C |
A |
18: 31,782,655 (GRCm39) |
R189S |
probably damaging |
Het |
Smg1 |
T |
C |
7: 117,785,369 (GRCm39) |
|
probably benign |
Het |
Tecta |
G |
A |
9: 42,248,489 (GRCm39) |
T1971I |
probably damaging |
Het |
Tlcd5 |
A |
T |
9: 43,022,859 (GRCm39) |
V165E |
probably damaging |
Het |
Tmem263 |
T |
A |
10: 84,950,274 (GRCm39) |
S22T |
probably benign |
Het |
Tnrc18 |
A |
T |
5: 142,773,049 (GRCm39) |
F410L |
unknown |
Het |
Ttc27 |
T |
G |
17: 75,087,906 (GRCm39) |
|
probably benign |
Het |
Vmn1r45 |
A |
T |
6: 89,910,668 (GRCm39) |
C101S |
probably damaging |
Het |
Wdr17 |
T |
C |
8: 55,112,738 (GRCm39) |
K781E |
probably damaging |
Het |
Xkr6 |
C |
T |
14: 64,056,653 (GRCm39) |
T188M |
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 |
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 |
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 |
2014-05-07 |