Incidental Mutation 'IGL01120:Slc34a1'
| ID |
52586 |
| 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 # |
IGL01120
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
55547435-55562508 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 55556884 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 241
(L241H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152974
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057167]
[ENSMUST00000224925]
[ENSMUST00000225259]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057167
AA Change: L360H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000059138
Gene: ENSMUSG00000021490
AA Change: L360H
| 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: ENSMUST00000223954
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224043
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224925
AA Change: L241H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225259
AA Change: L360H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225538
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd11 |
T |
A |
5: 135,040,329 (GRCm39) |
|
probably null |
Het |
| Armcx5 |
T |
C |
X: 134,647,112 (GRCm39) |
I396T |
probably damaging |
Het |
| Atm |
T |
C |
9: 53,372,422 (GRCm39) |
|
probably null |
Het |
| Atp6v1c2 |
C |
T |
12: 17,358,294 (GRCm39) |
E88K |
probably damaging |
Het |
| Caskin1 |
A |
G |
17: 24,724,343 (GRCm39) |
T1044A |
possibly damaging |
Het |
| Cyp3a59 |
T |
A |
5: 146,039,671 (GRCm39) |
S315T |
probably damaging |
Het |
| Dnaja1 |
T |
A |
4: 40,730,248 (GRCm39) |
I240N |
probably damaging |
Het |
| Dnttip2 |
C |
T |
3: 122,072,386 (GRCm39) |
|
probably benign |
Het |
| Elavl2 |
A |
T |
4: 91,152,309 (GRCm39) |
M136K |
probably damaging |
Het |
| Eml5 |
C |
T |
12: 98,810,278 (GRCm39) |
V893I |
probably benign |
Het |
| Fbxw4 |
G |
T |
19: 45,628,955 (GRCm39) |
A2E |
probably benign |
Het |
| Flg2 |
T |
G |
3: 93,108,475 (GRCm39) |
S168A |
probably damaging |
Het |
| Fndc3a |
G |
A |
14: 72,794,102 (GRCm39) |
T857I |
probably benign |
Het |
| Gria1 |
A |
G |
11: 57,208,495 (GRCm39) |
K797E |
probably damaging |
Het |
| Herc1 |
T |
C |
9: 66,336,162 (GRCm39) |
F1569S |
probably benign |
Het |
| Kash5 |
G |
T |
7: 44,833,622 (GRCm39) |
S560Y |
probably damaging |
Het |
| Lrrc45 |
T |
C |
11: 120,610,836 (GRCm39) |
V524A |
probably benign |
Het |
| Myo19 |
T |
C |
11: 84,798,104 (GRCm39) |
L708P |
probably damaging |
Het |
| Nup107 |
A |
G |
10: 117,606,146 (GRCm39) |
|
probably benign |
Het |
| Or10ab4 |
T |
G |
7: 107,654,774 (GRCm39) |
M195R |
probably damaging |
Het |
| Or52h9 |
T |
C |
7: 104,202,552 (GRCm39) |
V142A |
probably benign |
Het |
| Palm |
A |
G |
10: 79,652,621 (GRCm39) |
|
probably benign |
Het |
| Phf14 |
T |
C |
6: 11,962,739 (GRCm39) |
V462A |
probably damaging |
Het |
| Pkhd1l1 |
G |
A |
15: 44,368,708 (GRCm39) |
|
probably null |
Het |
| Pkp3 |
T |
A |
7: 140,664,095 (GRCm39) |
L424* |
probably null |
Het |
| Prss29 |
A |
G |
17: 25,541,107 (GRCm39) |
K184E |
probably benign |
Het |
| Prss3b |
A |
T |
6: 41,008,607 (GRCm39) |
Y236N |
probably damaging |
Het |
| Ptcd1 |
C |
T |
5: 145,089,053 (GRCm39) |
|
probably benign |
Het |
| Pth1r |
T |
C |
9: 110,556,198 (GRCm39) |
H225R |
probably damaging |
Het |
| Rffl |
C |
T |
11: 82,696,848 (GRCm39) |
V332I |
probably damaging |
Het |
| Rsl1 |
T |
C |
13: 67,325,230 (GRCm39) |
|
probably benign |
Het |
| Scart2 |
T |
C |
7: 139,876,472 (GRCm39) |
L648P |
probably benign |
Het |
| Scn9a |
T |
C |
2: 66,357,316 (GRCm39) |
K986R |
probably benign |
Het |
| Slc22a15 |
A |
G |
3: 101,804,482 (GRCm39) |
L181P |
probably damaging |
Het |
| Slc4a4 |
C |
A |
5: 89,280,238 (GRCm39) |
H354Q |
probably damaging |
Het |
| Sorcs2 |
T |
C |
5: 36,178,596 (GRCm39) |
E1131G |
probably damaging |
Het |
| Ssc4d |
C |
A |
5: 135,996,817 (GRCm39) |
D95Y |
probably damaging |
Het |
| Tcte1 |
A |
T |
17: 45,850,594 (GRCm39) |
D290V |
probably damaging |
Het |
| Thyn1 |
T |
A |
9: 26,915,070 (GRCm39) |
M74K |
probably benign |
Het |
| Tlr4 |
C |
T |
4: 66,758,662 (GRCm39) |
T485I |
probably benign |
Het |
| Trem1 |
A |
G |
17: 48,544,277 (GRCm39) |
T101A |
probably benign |
Het |
| Ttc17 |
T |
C |
2: 94,202,141 (GRCm39) |
E387G |
probably damaging |
Het |
| Vmn2r103 |
A |
T |
17: 20,013,259 (GRCm39) |
T127S |
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 |
|
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 |
|
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 |
2013-06-21 |
Incidental Mutation