Incidental Mutation 'R0190:Slc34a1'
| ID |
23182 |
| 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 |
038451-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.084)
|
| Stock # |
R0190 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
13 |
| Chromosomal Location |
55547435-55562508 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 55556914 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 251
(M251T)
|
| 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 benign
Transcript: ENSMUST00000057167
AA Change: M370T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000059138
Gene: ENSMUSG00000021490
AA Change: M370T
| 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 benign
Transcript: ENSMUST00000224925
AA Change: M251T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225259
AA Change: M370T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225538
|
| Meta Mutation Damage Score |
0.0780 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.6%
- 10x: 91.6%
- 20x: 72.5%
|
| Validation Efficiency |
75% (45/60) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl1 |
T |
C |
8: 46,966,429 (GRCm39) |
|
probably null |
Het |
| Aff2 |
CA |
CAAA |
X: 68,892,711 (GRCm39) |
|
probably null |
Het |
| Ankrd34a |
A |
G |
3: 96,505,105 (GRCm39) |
D103G |
probably damaging |
Het |
| Atp1b2 |
T |
C |
11: 69,492,388 (GRCm39) |
D224G |
probably damaging |
Het |
| Atxn10 |
A |
G |
15: 85,220,730 (GRCm39) |
D22G |
possibly damaging |
Het |
| Btbd9 |
C |
T |
17: 30,493,916 (GRCm39) |
D492N |
possibly damaging |
Het |
| Caskin1 |
C |
T |
17: 24,723,596 (GRCm39) |
L795F |
possibly damaging |
Het |
| Cdk12 |
T |
C |
11: 98,132,657 (GRCm39) |
|
probably null |
Het |
| Crtc2 |
A |
G |
3: 90,166,716 (GRCm39) |
H91R |
probably damaging |
Het |
| Dbt |
A |
G |
3: 116,332,736 (GRCm39) |
|
probably null |
Het |
| Dda1 |
C |
A |
8: 71,924,877 (GRCm39) |
Y41* |
probably null |
Het |
| Dnah2 |
T |
A |
11: 69,326,075 (GRCm39) |
D3692V |
probably damaging |
Het |
| Dpep1 |
A |
G |
8: 123,927,447 (GRCm39) |
T334A |
probably benign |
Het |
| Enthd1 |
C |
T |
15: 80,418,695 (GRCm39) |
|
probably null |
Het |
| Fpr-rs6 |
T |
A |
17: 20,402,741 (GRCm39) |
I207F |
probably benign |
Het |
| Fsip2 |
T |
A |
2: 82,815,521 (GRCm39) |
S3751R |
possibly damaging |
Het |
| Gigyf2 |
A |
T |
1: 87,356,410 (GRCm39) |
|
probably benign |
Het |
| Gtf3c4 |
C |
A |
2: 28,730,140 (GRCm39) |
D34Y |
probably benign |
Het |
| Iftap |
G |
A |
2: 101,416,775 (GRCm39) |
S58L |
probably benign |
Het |
| Igfn1 |
A |
T |
1: 135,889,790 (GRCm39) |
V2419E |
probably damaging |
Het |
| Kank1 |
A |
T |
19: 25,386,647 (GRCm39) |
I79L |
probably benign |
Het |
| Kif21b |
A |
G |
1: 136,098,957 (GRCm39) |
H1415R |
probably benign |
Het |
| Mad2l1 |
T |
C |
6: 66,516,862 (GRCm39) |
S185P |
possibly damaging |
Het |
| Mettl18 |
A |
G |
1: 163,823,991 (GRCm39) |
E104G |
probably damaging |
Het |
| Mrgprb2 |
G |
A |
7: 48,202,525 (GRCm39) |
H67Y |
possibly damaging |
Het |
| Mrgprd |
G |
A |
7: 144,875,439 (GRCm39) |
M103I |
probably benign |
Het |
| Nanos3 |
C |
T |
8: 84,902,763 (GRCm39) |
R133Q |
probably damaging |
Het |
| Npc1 |
G |
A |
18: 12,324,887 (GRCm39) |
T1202I |
probably damaging |
Het |
| Nucks1 |
A |
G |
1: 131,852,329 (GRCm39) |
D60G |
probably damaging |
Het |
| Or10g7 |
A |
G |
9: 39,905,840 (GRCm39) |
I245V |
probably benign |
Het |
| Or13f5 |
G |
C |
4: 52,825,613 (GRCm39) |
W72S |
probably damaging |
Het |
| Or4a72 |
T |
A |
2: 89,405,302 (GRCm39) |
Y256F |
probably damaging |
Het |
| Paqr8 |
A |
G |
1: 21,005,271 (GRCm39) |
T142A |
probably benign |
Het |
| Pdss1 |
T |
C |
2: 22,796,843 (GRCm39) |
S119P |
probably damaging |
Het |
| Plcl2 |
A |
G |
17: 50,914,671 (GRCm39) |
D560G |
probably benign |
Het |
| Ppm1b |
T |
A |
17: 85,301,531 (GRCm39) |
V137E |
probably damaging |
Het |
| Ppp1r16b |
A |
C |
2: 158,537,983 (GRCm39) |
K35Q |
probably damaging |
Het |
| Prkd2 |
A |
T |
7: 16,603,815 (GRCm39) |
E832V |
probably damaging |
Het |
| Rab34 |
G |
T |
11: 78,082,232 (GRCm39) |
K191N |
possibly damaging |
Het |
| Rad51ap2 |
A |
C |
12: 11,508,540 (GRCm39) |
T821P |
probably benign |
Het |
| Rbm19 |
A |
G |
5: 120,282,111 (GRCm39) |
T823A |
probably benign |
Het |
| Rpf2 |
T |
G |
10: 40,103,597 (GRCm39) |
H106P |
probably damaging |
Het |
| Schip1 |
A |
G |
3: 68,533,177 (GRCm39) |
M453V |
probably benign |
Het |
| Sema5a |
T |
A |
15: 32,562,920 (GRCm39) |
N310K |
possibly damaging |
Het |
| Sf3b1 |
T |
C |
1: 55,029,465 (GRCm39) |
D1179G |
probably damaging |
Het |
| Skint2 |
A |
T |
4: 112,473,729 (GRCm39) |
T4S |
possibly damaging |
Het |
| Slc22a5 |
A |
T |
11: 53,760,241 (GRCm39) |
Y358* |
probably null |
Het |
| Slc44a5 |
A |
G |
3: 153,944,755 (GRCm39) |
D124G |
probably null |
Het |
| Slc9b1 |
G |
A |
3: 135,063,434 (GRCm39) |
E73K |
unknown |
Het |
| Ssbp2 |
T |
C |
13: 91,817,829 (GRCm39) |
L156P |
probably damaging |
Het |
| Taar2 |
G |
A |
10: 23,817,393 (GRCm39) |
R311H |
probably benign |
Het |
| Trim47 |
A |
G |
11: 115,997,053 (GRCm39) |
V568A |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,718,324 (GRCm39) |
|
probably benign |
Het |
| Ttpa |
A |
T |
4: 20,021,260 (GRCm39) |
I74F |
probably damaging |
Het |
| Vmn2r52 |
T |
C |
7: 9,905,315 (GRCm39) |
I175V |
probably benign |
Het |
| Wrn |
C |
T |
8: 33,731,011 (GRCm39) |
C1350Y |
probably benign |
Het |
| Zfp11 |
C |
T |
5: 129,735,302 (GRCm39) |
G53E |
possibly damaging |
Het |
| Zfp422 |
A |
T |
6: 116,603,572 (GRCm39) |
D142E |
probably damaging |
Het |
| Zfp473 |
A |
T |
7: 44,382,612 (GRCm39) |
C574S |
probably damaging |
Het |
| Zfp638 |
T |
A |
6: 83,905,946 (GRCm39) |
M37K |
probably damaging |
Het |
| Zfp976 |
C |
A |
7: 42,291,948 (GRCm39) |
|
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCACAGCTCGTTGGTTGGTAAAGG -3'
(R):5'- GCCCGTCTGCTAGAGAATGCAAAAG -3'
Sequencing Primer
(F):5'- TTGGTTGGTAAAGGCGGGAAG -3'
(R):5'- AGTCAGAGACAGCCTCAGTTTTC -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation