Incidental Mutation 'R5177:Slc34a1'
ID |
399637 |
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 |
042757-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
R5177 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
55547435-55562508 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 55548975 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 142
(I142F)
|
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 damaging
Transcript: ENSMUST00000057167
AA Change: I142F
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000059138 Gene: ENSMUSG00000021490 AA Change: I142F
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 damaging
Transcript: ENSMUST00000225259
AA Change: I142F
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
Meta Mutation Damage Score |
0.1629 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.5%
|
Validation Efficiency |
97% (71/73) |
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb11 |
C |
T |
2: 69,115,639 (GRCm39) |
R575Q |
probably damaging |
Het |
Arhgap22 |
T |
G |
14: 33,088,650 (GRCm39) |
V377G |
probably benign |
Het |
Asic4 |
T |
C |
1: 75,427,483 (GRCm39) |
I3T |
probably damaging |
Het |
Atp2b4 |
T |
C |
1: 133,656,506 (GRCm39) |
T715A |
probably benign |
Het |
Bltp3a |
T |
C |
17: 28,103,992 (GRCm39) |
L464P |
possibly damaging |
Het |
Ccdc180 |
A |
T |
4: 45,917,508 (GRCm39) |
H283L |
probably damaging |
Het |
Cfap91 |
A |
G |
16: 38,152,683 (GRCm39) |
S176P |
probably benign |
Het |
Cfb |
A |
G |
17: 35,078,002 (GRCm39) |
V976A |
probably damaging |
Het |
Cltc |
T |
C |
11: 86,595,989 (GRCm39) |
T1250A |
probably damaging |
Het |
Cylc2 |
T |
C |
4: 51,228,587 (GRCm39) |
|
probably benign |
Het |
Dcbld1 |
T |
A |
10: 52,180,730 (GRCm39) |
D131E |
probably damaging |
Het |
Dmxl1 |
T |
C |
18: 50,026,651 (GRCm39) |
S1920P |
probably damaging |
Het |
Dnajc13 |
G |
A |
9: 104,108,185 (GRCm39) |
H197Y |
probably benign |
Het |
Dpy19l1 |
C |
T |
9: 24,349,924 (GRCm39) |
|
probably null |
Het |
Ears2 |
A |
G |
7: 121,643,683 (GRCm39) |
|
probably benign |
Het |
Epgn |
A |
C |
5: 91,176,136 (GRCm39) |
|
probably benign |
Het |
Ern1 |
T |
C |
11: 106,302,601 (GRCm39) |
T418A |
probably benign |
Het |
F12 |
G |
A |
13: 55,567,981 (GRCm39) |
P476S |
probably benign |
Het |
Gal3st2c |
C |
T |
1: 93,936,930 (GRCm39) |
Q292* |
probably null |
Het |
Galnt7 |
C |
A |
8: 58,037,061 (GRCm39) |
Q109H |
possibly damaging |
Het |
Gimap1 |
G |
T |
6: 48,720,032 (GRCm39) |
G215W |
probably damaging |
Het |
Gm28042 |
T |
A |
2: 119,872,082 (GRCm39) |
|
probably null |
Het |
Gm5414 |
A |
G |
15: 101,534,252 (GRCm39) |
I284T |
possibly damaging |
Het |
Hddc3 |
A |
G |
7: 79,992,914 (GRCm39) |
E10G |
probably damaging |
Het |
Hmgxb3 |
T |
C |
18: 61,305,266 (GRCm39) |
K31E |
probably damaging |
Het |
Hspg2 |
A |
C |
4: 137,246,083 (GRCm39) |
Y989S |
probably damaging |
Het |
Kif12 |
G |
A |
4: 63,086,141 (GRCm39) |
T402M |
probably benign |
Het |
Klhdc4 |
A |
T |
8: 122,540,529 (GRCm39) |
L115* |
probably null |
Het |
Lama2 |
C |
T |
10: 27,066,699 (GRCm39) |
V1061M |
possibly damaging |
Het |
Llgl1 |
C |
T |
11: 60,602,833 (GRCm39) |
T836I |
possibly damaging |
Het |
Map4k4 |
A |
G |
1: 40,025,922 (GRCm39) |
D304G |
probably damaging |
Het |
Matn2 |
A |
G |
15: 34,433,660 (GRCm39) |
Q915R |
possibly damaging |
Het |
Myo18a |
A |
G |
11: 77,755,668 (GRCm39) |
|
probably benign |
Het |
Myorg |
C |
A |
4: 41,498,407 (GRCm39) |
E408* |
probably null |
Het |
Nbn |
A |
T |
4: 15,965,132 (GRCm39) |
|
probably null |
Het |
Nek8 |
G |
A |
11: 78,061,297 (GRCm39) |
Q383* |
probably null |
Het |
Nme7 |
T |
G |
1: 164,208,245 (GRCm39) |
Y304* |
probably null |
Het |
Nol8 |
A |
T |
13: 49,814,588 (GRCm39) |
H214L |
probably benign |
Het |
Nostrin |
A |
T |
2: 69,006,098 (GRCm39) |
I261F |
possibly damaging |
Het |
Oprk1 |
T |
G |
1: 5,672,897 (GRCm39) |
C345G |
probably damaging |
Het |
Or13a18 |
A |
G |
7: 140,190,102 (GRCm39) |
T8A |
probably benign |
Het |
Or52j3 |
A |
T |
7: 102,836,710 (GRCm39) |
I301L |
probably benign |
Het |
Polrmt |
T |
C |
10: 79,573,310 (GRCm39) |
S998G |
probably benign |
Het |
Ppp1r12c |
T |
A |
7: 4,487,495 (GRCm39) |
R393* |
probably null |
Het |
Prpf3 |
T |
A |
3: 95,757,036 (GRCm39) |
|
probably benign |
Het |
Rabl6 |
T |
C |
2: 25,475,385 (GRCm39) |
M563V |
probably benign |
Het |
Rasa2 |
C |
A |
9: 96,426,844 (GRCm39) |
E775* |
probably null |
Het |
Rc3h1 |
G |
T |
1: 160,779,222 (GRCm39) |
V552L |
probably damaging |
Het |
Rhot1 |
A |
T |
11: 80,137,592 (GRCm39) |
N365Y |
possibly damaging |
Het |
Rimbp3 |
G |
A |
16: 17,027,781 (GRCm39) |
V402M |
possibly damaging |
Het |
Rusc2 |
A |
T |
4: 43,421,805 (GRCm39) |
|
probably null |
Het |
Slc25a11 |
T |
C |
11: 70,536,643 (GRCm39) |
E141G |
probably damaging |
Het |
Socs6 |
A |
C |
18: 88,887,504 (GRCm39) |
Y470* |
probably null |
Het |
Sox12 |
A |
T |
2: 152,239,098 (GRCm39) |
L174Q |
unknown |
Het |
Srl |
A |
G |
16: 4,314,267 (GRCm39) |
|
probably null |
Het |
Tacc1 |
A |
T |
8: 25,691,237 (GRCm39) |
V22E |
probably damaging |
Het |
Thsd7a |
A |
T |
6: 12,379,582 (GRCm39) |
C947* |
probably null |
Het |
Tlr12 |
A |
C |
4: 128,512,169 (GRCm39) |
V27G |
probably damaging |
Het |
Tmprss4 |
C |
A |
9: 45,085,260 (GRCm39) |
V398L |
probably benign |
Het |
Trip6 |
T |
C |
5: 137,310,434 (GRCm39) |
D270G |
probably damaging |
Het |
Uba5 |
T |
G |
9: 103,926,497 (GRCm39) |
N355T |
probably benign |
Het |
Ubr5 |
A |
G |
15: 38,006,761 (GRCm39) |
Y1171H |
probably benign |
Het |
Vmn2r57 |
A |
G |
7: 41,049,664 (GRCm39) |
I695T |
probably benign |
Het |
Vmn2r68 |
T |
A |
7: 84,871,199 (GRCm39) |
I695L |
probably damaging |
Het |
Vmn2r79 |
T |
A |
7: 86,651,177 (GRCm39) |
M192K |
probably damaging |
Het |
Vps16 |
G |
T |
2: 130,285,288 (GRCm39) |
E782* |
probably null |
Het |
Zfp783 |
A |
G |
6: 47,923,737 (GRCm39) |
|
noncoding transcript |
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 |
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 |
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'- TGAAGGTGCCTCTGATGCTG -3'
(R):5'- CAAGAGATGCTGAAGTCCCACC -3'
Sequencing Primer
(F):5'- GTGCCTCTGATGCTGGCTTTC -3'
(R):5'- TCAGCAATTCCACATGCCTG -3'
|
Posted On |
2016-07-06 |