Incidental Mutation 'R5334:Slc34a1'
ID |
423433 |
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 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
R5334 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
55547435-55562508 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 24003034 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 228
(F228S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097288
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006786]
[ENSMUST00000099697]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000006786
AA Change: F228S
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000006786 Gene: ENSMUSG00000036110 AA Change: F228S
Domain | Start | End | E-Value | Type |
Pfam:MFS_1
|
19 |
425 |
3.5e-44 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000099697
AA Change: F228S
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000097288 Gene: ENSMUSG00000036110 AA Change: F228S
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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.3%
|
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Anapc15 |
C |
T |
7: 101,547,810 (GRCm39) |
P68L |
probably damaging |
Het |
Ap4s1 |
C |
T |
12: 51,785,454 (GRCm39) |
S142L |
probably benign |
Het |
Apol11a |
A |
G |
15: 77,400,953 (GRCm39) |
T147A |
probably benign |
Het |
Aqp9 |
T |
C |
9: 71,030,292 (GRCm39) |
|
probably null |
Het |
Arhgap25 |
T |
A |
6: 87,440,243 (GRCm39) |
N468I |
possibly damaging |
Het |
Arhgef2 |
T |
A |
3: 88,553,636 (GRCm39) |
S924R |
probably damaging |
Het |
Atad3a |
A |
T |
4: 155,840,146 (GRCm39) |
L144Q |
probably damaging |
Het |
Ccbe1 |
T |
C |
18: 66,216,316 (GRCm39) |
I136V |
probably damaging |
Het |
Col24a1 |
C |
A |
3: 145,167,280 (GRCm39) |
P1119Q |
possibly damaging |
Het |
Dgkd |
T |
C |
1: 87,865,989 (GRCm39) |
|
probably null |
Het |
Dnah7a |
A |
G |
1: 53,542,805 (GRCm39) |
I2455T |
probably benign |
Het |
Dock2 |
T |
C |
11: 34,178,643 (GRCm39) |
T1795A |
probably benign |
Het |
Dpp6 |
A |
T |
5: 27,914,538 (GRCm39) |
E541V |
probably benign |
Het |
Edem1 |
T |
C |
6: 108,825,793 (GRCm39) |
|
probably null |
Het |
Fbxo41 |
A |
G |
6: 85,455,465 (GRCm39) |
V573A |
probably damaging |
Het |
Fech |
A |
C |
18: 64,597,191 (GRCm39) |
V256G |
probably damaging |
Het |
Gad1-ps |
G |
A |
10: 99,281,009 (GRCm39) |
|
noncoding transcript |
Het |
Gal3st4 |
T |
G |
5: 138,263,983 (GRCm39) |
K339Q |
probably benign |
Het |
Gpr158 |
T |
A |
2: 21,832,316 (GRCm39) |
S1139T |
probably benign |
Het |
Gpr180 |
A |
T |
14: 118,397,468 (GRCm39) |
S321C |
probably damaging |
Het |
Grik1 |
CGG |
CGGG |
16: 87,720,082 (GRCm39) |
|
probably null |
Het |
Grin2c |
T |
G |
11: 115,146,881 (GRCm39) |
N438T |
possibly damaging |
Het |
Hcn2 |
T |
C |
10: 79,562,125 (GRCm39) |
S374P |
probably damaging |
Het |
Hmcn1 |
T |
A |
1: 150,631,123 (GRCm39) |
I892F |
probably damaging |
Het |
Ifi207 |
C |
T |
1: 173,555,097 (GRCm39) |
V869I |
probably benign |
Het |
Itgad |
T |
C |
7: 127,788,458 (GRCm39) |
Y390H |
probably damaging |
Het |
Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
Kcnj15 |
A |
G |
16: 95,097,508 (GRCm39) |
K377E |
probably damaging |
Het |
Kcnq3 |
A |
G |
15: 65,897,073 (GRCm39) |
S276P |
probably damaging |
Het |
Klhl26 |
T |
C |
8: 70,904,968 (GRCm39) |
D280G |
probably damaging |
Het |
Lmnb2 |
C |
T |
10: 80,739,791 (GRCm39) |
V376I |
probably benign |
Het |
Lrrc37 |
T |
C |
11: 103,504,699 (GRCm39) |
Q2423R |
probably benign |
Het |
Mepce |
T |
A |
5: 137,784,889 (GRCm39) |
R29S |
probably benign |
Het |
Mlh3 |
A |
G |
12: 85,292,535 (GRCm39) |
|
probably null |
Het |
Mlip |
T |
A |
9: 77,150,958 (GRCm39) |
T33S |
probably damaging |
Het |
Msantd5f6 |
T |
A |
4: 73,321,754 (GRCm39) |
M94L |
probably benign |
Het |
Mtpn |
C |
T |
6: 35,489,225 (GRCm39) |
D100N |
probably benign |
Het |
Ncapg2 |
T |
C |
12: 116,390,257 (GRCm39) |
I402T |
probably damaging |
Het |
Or2aj6 |
C |
G |
16: 19,443,241 (GRCm39) |
G203A |
probably benign |
Het |
Or5m13b |
T |
C |
2: 85,754,058 (GRCm39) |
Y149H |
probably damaging |
Het |
Pcsk5 |
T |
C |
19: 17,439,215 (GRCm39) |
D1301G |
probably benign |
Het |
Pilrb1 |
T |
C |
5: 137,853,165 (GRCm39) |
M213V |
probably benign |
Het |
Plxdc1 |
T |
C |
11: 97,846,931 (GRCm39) |
T163A |
possibly damaging |
Het |
Pnpla2 |
T |
C |
7: 141,039,406 (GRCm39) |
L373P |
probably damaging |
Het |
Prickle2 |
A |
G |
6: 92,402,665 (GRCm39) |
Y52H |
probably damaging |
Het |
Rnf220 |
A |
G |
4: 117,129,548 (GRCm39) |
C294R |
probably damaging |
Het |
Slc12a1 |
A |
G |
2: 125,059,809 (GRCm39) |
D903G |
probably damaging |
Het |
Sptbn1 |
T |
C |
11: 30,087,364 (GRCm39) |
E1025G |
possibly damaging |
Het |
Sult1c2 |
T |
G |
17: 54,271,758 (GRCm39) |
D143A |
probably damaging |
Het |
Taar1 |
T |
G |
10: 23,796,443 (GRCm39) |
I47R |
probably damaging |
Het |
Tctn3 |
G |
T |
19: 40,591,266 (GRCm39) |
Q514K |
probably benign |
Het |
Tg |
T |
C |
15: 66,549,904 (GRCm39) |
F222S |
probably damaging |
Het |
Tmem236 |
C |
A |
2: 14,223,871 (GRCm39) |
T220K |
possibly damaging |
Het |
Trim50 |
C |
T |
5: 135,396,330 (GRCm39) |
T426M |
probably damaging |
Het |
Vmn1r237 |
T |
C |
17: 21,534,942 (GRCm39) |
F222L |
probably benign |
Het |
Wrap73 |
G |
A |
4: 154,229,731 (GRCm39) |
R34Q |
probably damaging |
Het |
Zfp85 |
T |
C |
13: 67,899,803 (GRCm39) |
Y52C |
probably damaging |
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 |
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 |
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'- TGGATTCTTAAGCCTTGGCTTC -3'
(R):5'- TTGGCATTATGATAGGTTACCCTAG -3'
Sequencing Primer
(F):5'- GTGAACTGGCATCTAAAAAGGTTC -3'
(R):5'- TTACCCTAGAAACAGAAAGTGCTCTG -3'
|
Posted On |
2016-08-04 |