Incidental Mutation 'R3940:Slc34a1'
ID |
307418 |
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 |
040922-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
R3940 (G1)
|
Quality Score |
145 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
55547435-55562508 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 55560983 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 483
(I483F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153038
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021948]
[ENSMUST00000054146]
[ENSMUST00000057167]
[ENSMUST00000170921]
[ENSMUST00000225259]
[ENSMUST00000224925]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021948
|
SMART Domains |
Protein: ENSMUSP00000021948 Gene: ENSMUSG00000021492
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
FN2
|
40 |
88 |
4.3e-24 |
SMART |
EGF
|
97 |
131 |
4.22e-4 |
SMART |
FN1
|
135 |
175 |
2.4e-13 |
SMART |
EGF
|
177 |
210 |
3.94e-4 |
SMART |
KR
|
215 |
297 |
6.88e-27 |
SMART |
low complexity region
|
302 |
320 |
N/A |
INTRINSIC |
Tryp_SPc
|
354 |
591 |
7.74e-90 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000054146
|
SMART Domains |
Protein: ENSMUSP00000054053 Gene: ENSMUSG00000044444
Domain | Start | End | E-Value | Type |
Pfam:Profilin
|
3 |
132 |
7.5e-15 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000057167
AA Change: I483F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000059138 Gene: ENSMUSG00000021490 AA Change: I483F
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 |
probably benign
Transcript: ENSMUST00000170921
|
SMART Domains |
Protein: ENSMUSP00000125771 Gene: ENSMUSG00000021492
Domain | Start | End | E-Value | Type |
Tryp_SPc
|
2 |
137 |
3.4e-7 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223954
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224043
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000225259
AA Change: I483F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224925
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225538
|
Meta Mutation Damage Score |
0.2899 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
95% (35/37) |
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930567H17Rik |
C |
T |
X: 69,438,135 (GRCm39) |
A53T |
probably benign |
Het |
Acsm3 |
A |
G |
7: 119,373,109 (GRCm39) |
E204G |
probably benign |
Het |
Acta2 |
A |
T |
19: 34,220,880 (GRCm39) |
I276N |
possibly damaging |
Het |
Ankrd16 |
T |
C |
2: 11,789,192 (GRCm39) |
C260R |
probably benign |
Het |
Ankrd42 |
T |
C |
7: 92,240,996 (GRCm39) |
|
probably null |
Het |
Atp13a2 |
T |
C |
4: 140,733,733 (GRCm39) |
S1041P |
probably damaging |
Het |
Brinp3 |
C |
A |
1: 146,627,599 (GRCm39) |
D277E |
probably damaging |
Het |
Calm5 |
A |
T |
13: 3,904,485 (GRCm39) |
I37F |
possibly damaging |
Het |
Casq1 |
A |
G |
1: 172,047,103 (GRCm39) |
V52A |
possibly damaging |
Het |
Col22a1 |
A |
T |
15: 71,853,782 (GRCm39) |
L260* |
probably null |
Het |
Cttnbp2 |
C |
A |
6: 18,420,974 (GRCm39) |
V846L |
probably benign |
Het |
Dnah12 |
A |
G |
14: 26,444,754 (GRCm39) |
T627A |
probably benign |
Het |
Eogt |
T |
C |
6: 97,090,875 (GRCm39) |
I421M |
probably damaging |
Het |
Fam135a |
T |
A |
1: 24,096,556 (GRCm39) |
H63L |
probably damaging |
Het |
Fmo3 |
T |
A |
1: 162,791,555 (GRCm39) |
T241S |
probably benign |
Het |
Frem3 |
T |
C |
8: 81,341,649 (GRCm39) |
I1314T |
possibly damaging |
Het |
Gm14393 |
T |
C |
2: 174,903,420 (GRCm39) |
|
probably null |
Het |
Kcna5 |
C |
T |
6: 126,510,614 (GRCm39) |
V505I |
probably damaging |
Het |
Kit |
A |
G |
5: 75,769,978 (GRCm39) |
D130G |
probably benign |
Het |
Neto2 |
G |
A |
8: 86,400,747 (GRCm39) |
T16I |
probably damaging |
Het |
Or7a41 |
T |
A |
10: 78,871,038 (GRCm39) |
I136N |
probably damaging |
Het |
Or8k40 |
T |
A |
2: 86,584,275 (GRCm39) |
D269V |
possibly damaging |
Het |
Pcdhb7 |
T |
C |
18: 37,477,021 (GRCm39) |
L719P |
probably damaging |
Het |
Pcdhga9 |
G |
A |
18: 37,871,995 (GRCm39) |
R608H |
probably benign |
Het |
Pik3ip1 |
A |
G |
11: 3,281,987 (GRCm39) |
N48S |
probably damaging |
Het |
Pkn2 |
G |
A |
3: 142,499,672 (GRCm39) |
S951L |
probably damaging |
Het |
Prrc2a |
T |
C |
17: 35,376,474 (GRCm39) |
H772R |
possibly damaging |
Het |
Ric1 |
T |
C |
19: 29,548,162 (GRCm39) |
Y277H |
probably damaging |
Het |
Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
Rnf123 |
A |
T |
9: 107,941,234 (GRCm39) |
|
probably benign |
Het |
Robo1 |
T |
C |
16: 72,806,631 (GRCm39) |
S1166P |
probably benign |
Het |
S100a10 |
A |
G |
3: 93,468,383 (GRCm39) |
E38G |
probably benign |
Het |
Stim1 |
A |
G |
7: 102,084,848 (GRCm39) |
N600S |
probably benign |
Het |
Ube3c |
T |
A |
5: 29,824,358 (GRCm39) |
N517K |
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 |
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 |
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'- AGTCTGGTGTCATCTGGAGC -3'
(R):5'- CGGCTCTGCAGGACATTAAC -3'
Sequencing Primer
(F):5'- TGTCATCTGGAGCCACATCAG -3'
(R):5'- GCTCTGCAGGACATTAACAAGCAC -3'
|
Posted On |
2015-04-17 |