Incidental Mutation 'R7158:Slc34a1'
| ID |
557463 |
| 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 |
045329-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.084)
|
| Stock # |
R7158 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
55547435-55562508 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 55549044 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 165
(T165A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059138
(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: T165A
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000059138
Gene: ENSMUSG00000021490
AA Change: T165A
| 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: ENSMUST00000224925
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225259
AA Change: T165A
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
100% (68/68) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
T |
11: 9,223,982 (GRCm39) |
M454L |
probably benign |
Het |
| Abca8b |
T |
A |
11: 109,825,415 (GRCm39) |
E1595V |
probably damaging |
Het |
| Actr5 |
T |
A |
2: 158,468,334 (GRCm39) |
C155S |
possibly damaging |
Het |
| Acvr1b |
T |
A |
15: 101,091,939 (GRCm39) |
V73E |
probably benign |
Het |
| Add2 |
T |
C |
6: 86,062,934 (GRCm39) |
Y31H |
probably damaging |
Het |
| Akap13 |
G |
T |
7: 75,229,342 (GRCm39) |
V92F |
probably damaging |
Het |
| Alox8 |
T |
A |
11: 69,076,696 (GRCm39) |
M568L |
probably benign |
Het |
| Birc6 |
A |
T |
17: 74,901,371 (GRCm39) |
E1145V |
probably benign |
Het |
| Bltp3a |
T |
A |
17: 28,105,407 (GRCm39) |
C644* |
probably null |
Het |
| Cacng1 |
A |
T |
11: 107,594,665 (GRCm39) |
M166K |
probably damaging |
Het |
| Ces1f |
A |
G |
8: 93,994,644 (GRCm39) |
F256L |
probably benign |
Het |
| Clpb |
A |
G |
7: 101,313,039 (GRCm39) |
R8G |
probably benign |
Het |
| Col6a5 |
A |
G |
9: 105,741,407 (GRCm39) |
V2504A |
possibly damaging |
Het |
| Coq8a |
T |
C |
1: 180,006,749 (GRCm39) |
D93G |
probably benign |
Het |
| Cry2 |
A |
T |
2: 92,244,060 (GRCm39) |
I371N |
probably damaging |
Het |
| Ddx43 |
A |
C |
9: 78,319,501 (GRCm39) |
Q276H |
probably damaging |
Het |
| Dock10 |
T |
C |
1: 80,564,589 (GRCm39) |
|
probably null |
Het |
| Dst |
A |
G |
1: 34,313,366 (GRCm39) |
T4378A |
probably benign |
Het |
| Fezf1 |
T |
C |
6: 23,245,789 (GRCm39) |
T459A |
probably benign |
Het |
| Gm10097 |
C |
T |
10: 5,019,407 (GRCm39) |
A72V |
unknown |
Het |
| Hydin |
A |
G |
8: 111,336,303 (GRCm39) |
S5027G |
possibly damaging |
Het |
| Inhbb |
A |
T |
1: 119,348,752 (GRCm39) |
L22* |
probably null |
Het |
| Kat8 |
G |
A |
7: 127,521,331 (GRCm39) |
G228S |
probably benign |
Het |
| Kif15 |
T |
A |
9: 122,828,379 (GRCm39) |
S897T |
probably benign |
Het |
| Kndc1 |
A |
G |
7: 139,511,773 (GRCm39) |
Y1460C |
possibly damaging |
Het |
| Krt78 |
T |
A |
15: 101,860,241 (GRCm39) |
D225V |
probably benign |
Het |
| Lama3 |
A |
T |
18: 12,589,869 (GRCm39) |
I800F |
probably benign |
Het |
| Mdn1 |
C |
A |
4: 32,725,121 (GRCm39) |
T2580K |
probably benign |
Het |
| Mest |
T |
C |
6: 30,744,913 (GRCm39) |
F201S |
possibly damaging |
Het |
| Mtmr9 |
A |
G |
14: 63,764,318 (GRCm39) |
F470L |
probably benign |
Het |
| Nfic |
C |
T |
10: 81,256,439 (GRCm39) |
R75Q |
probably damaging |
Het |
| Nme2 |
G |
A |
11: 93,846,484 (GRCm39) |
|
probably benign |
Het |
| Nrg4 |
A |
G |
9: 55,149,384 (GRCm39) |
L71P |
probably damaging |
Het |
| Pacsin2 |
C |
T |
15: 83,263,943 (GRCm39) |
E365K |
possibly damaging |
Het |
| Pappa |
T |
C |
4: 65,123,104 (GRCm39) |
I813T |
possibly damaging |
Het |
| Pcdhgb4 |
A |
G |
18: 37,853,938 (GRCm39) |
E111G |
probably damaging |
Het |
| Pdzd8 |
C |
T |
19: 59,288,589 (GRCm39) |
R937H |
probably damaging |
Het |
| Per1 |
T |
G |
11: 68,994,930 (GRCm39) |
|
probably benign |
Het |
| Pex2 |
A |
G |
3: 5,626,396 (GRCm39) |
F138L |
probably benign |
Het |
| Pold1 |
A |
T |
7: 44,188,290 (GRCm39) |
N529K |
probably damaging |
Het |
| Pou6f2 |
T |
C |
13: 18,326,623 (GRCm39) |
I316V |
|
Het |
| Prom1 |
A |
C |
5: 44,170,255 (GRCm39) |
I682S |
probably damaging |
Het |
| Prpf40a |
T |
C |
2: 53,042,565 (GRCm39) |
K481E |
probably damaging |
Het |
| Prrg4 |
A |
T |
2: 104,662,958 (GRCm39) |
V216E |
probably damaging |
Het |
| Ptch2 |
C |
T |
4: 116,971,981 (GRCm39) |
P1168S |
possibly damaging |
Het |
| Pvr |
C |
A |
7: 19,652,562 (GRCm39) |
E118* |
probably null |
Het |
| R3hcc1l |
C |
T |
19: 42,571,868 (GRCm39) |
P716S |
probably damaging |
Het |
| Rasa4 |
A |
G |
5: 136,130,875 (GRCm39) |
E382G |
probably damaging |
Het |
| Rbp3 |
T |
A |
14: 33,677,513 (GRCm39) |
M487K |
probably benign |
Het |
| Rsad2 |
A |
T |
12: 26,500,779 (GRCm39) |
|
probably null |
Het |
| Shmt1 |
T |
C |
11: 60,681,068 (GRCm39) |
I353V |
probably benign |
Het |
| Shprh |
C |
T |
10: 11,042,474 (GRCm39) |
T819I |
probably damaging |
Het |
| Skap1 |
T |
A |
11: 96,416,883 (GRCm39) |
F56Y |
possibly damaging |
Het |
| Slc22a16 |
G |
T |
10: 40,449,737 (GRCm39) |
V79L |
possibly damaging |
Het |
| Smchd1 |
A |
C |
17: 71,707,145 (GRCm39) |
I941R |
probably damaging |
Het |
| Syne1 |
C |
A |
10: 5,007,931 (GRCm39) |
V98F |
probably damaging |
Het |
| Tcaim |
A |
G |
9: 122,648,055 (GRCm39) |
D190G |
possibly damaging |
Het |
| Tdrd9 |
G |
C |
12: 112,002,800 (GRCm39) |
E816D |
probably benign |
Het |
| Tmem132d |
T |
C |
5: 128,214,083 (GRCm39) |
K326E |
possibly damaging |
Het |
| Usp35 |
T |
C |
7: 96,975,171 (GRCm39) |
M1V |
probably null |
Het |
| Wdr62 |
C |
T |
7: 29,970,163 (GRCm39) |
V215I |
possibly damaging |
Het |
| Zan |
T |
C |
5: 137,398,906 (GRCm39) |
T4153A |
unknown |
Het |
| Zfp239 |
G |
T |
6: 117,848,690 (GRCm39) |
E143* |
probably null |
Het |
| Zfp292 |
T |
C |
4: 34,808,679 (GRCm39) |
D1460G |
probably benign |
Het |
| Zfp647 |
C |
T |
15: 76,801,505 (GRCm39) |
G90R |
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 |
|
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 |
|
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'- CTTGTTTCAGGGGACAGTGC -3'
Sequencing Primer
(F):5'- TGCTCCCTGGATGTGCTCAG -3'
(R):5'- CAAGAGATGCTGAAGTCCCAC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation