Incidental Mutation 'R7288:Slc34a1'
| ID |
566184 |
| 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 |
045395-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R7288 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
55547435-55562508 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 24003095 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 248
(H248Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006786
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006786]
[ENSMUST00000099697]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006786
AA Change: H248Q
PolyPhen 2
Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000006786
Gene: ENSMUSG00000036110
AA Change: H248Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
19 |
425 |
3.5e-44 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099697
AA Change: H248Q
PolyPhen 2
Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000097288
Gene: ENSMUSG00000036110
AA Change: H248Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
19 |
425 |
2.9e-45 |
PFAM |
|
transmembrane domain
|
443 |
462 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
T |
A |
11: 58,771,131 (GRCm39) |
D204E |
probably benign |
Het |
| Adh1 |
T |
G |
3: 137,988,493 (GRCm39) |
D155E |
probably benign |
Het |
| Akt1s1 |
T |
C |
7: 44,498,571 (GRCm39) |
L2P |
unknown |
Het |
| Ash1l |
T |
A |
3: 88,873,199 (GRCm39) |
|
probably benign |
Het |
| Bend7 |
C |
T |
2: 4,757,641 (GRCm39) |
P228S |
probably damaging |
Het |
| Bpifc |
T |
C |
10: 85,824,585 (GRCm39) |
E218G |
possibly damaging |
Het |
| Cdk6 |
T |
A |
5: 3,479,001 (GRCm39) |
F127Y |
probably benign |
Het |
| Cgnl1 |
A |
T |
9: 71,632,846 (GRCm39) |
H168Q |
possibly damaging |
Het |
| Chd7 |
C |
T |
4: 8,847,093 (GRCm39) |
T1612I |
possibly damaging |
Het |
| Col4a4 |
A |
T |
1: 82,470,184 (GRCm39) |
C782S |
unknown |
Het |
| Copg2 |
T |
A |
6: 30,801,341 (GRCm39) |
I364L |
probably damaging |
Het |
| Crygb |
A |
G |
1: 65,121,084 (GRCm39) |
L81P |
probably benign |
Het |
| Cyp4f18 |
A |
T |
8: 72,747,017 (GRCm39) |
M326K |
probably damaging |
Het |
| Dhx34 |
A |
G |
7: 15,949,361 (GRCm39) |
S356P |
probably benign |
Het |
| Dmbt1 |
C |
T |
7: 130,685,519 (GRCm39) |
Q855* |
probably null |
Het |
| Dnai3 |
T |
C |
3: 145,787,007 (GRCm39) |
T343A |
probably damaging |
Het |
| Dnph1 |
A |
G |
17: 46,809,938 (GRCm39) |
N160S |
probably benign |
Het |
| Esrra |
A |
T |
19: 6,890,139 (GRCm39) |
C228* |
probably null |
Het |
| Evpl |
T |
C |
11: 116,114,775 (GRCm39) |
N972D |
probably benign |
Het |
| Fat3 |
T |
C |
9: 15,909,888 (GRCm39) |
D2038G |
probably damaging |
Het |
| Fhit |
T |
A |
14: 9,763,784 (GRCm38) |
R102W |
probably damaging |
Het |
| Gal3st1 |
A |
T |
11: 3,948,609 (GRCm39) |
D272V |
probably damaging |
Het |
| Gal3st1 |
T |
A |
11: 3,948,651 (GRCm39) |
V286D |
probably damaging |
Het |
| Gemin4 |
A |
T |
11: 76,104,206 (GRCm39) |
M185K |
possibly damaging |
Het |
| Hecw1 |
T |
C |
13: 14,490,821 (GRCm39) |
I311V |
probably benign |
Het |
| Ift172 |
T |
C |
5: 31,442,630 (GRCm39) |
Y179C |
probably damaging |
Het |
| Ighv7-3 |
C |
T |
12: 114,116,963 (GRCm39) |
W66* |
probably null |
Het |
| Iqgap3 |
T |
A |
3: 88,016,142 (GRCm39) |
I975N |
probably damaging |
Het |
| Khdrbs3 |
A |
G |
15: 68,921,262 (GRCm39) |
E281G |
possibly damaging |
Het |
| Lamb2 |
A |
T |
9: 108,365,523 (GRCm39) |
T1369S |
probably benign |
Het |
| Mettl8 |
A |
T |
2: 70,812,382 (GRCm39) |
D84E |
probably benign |
Het |
| Mrgprb3 |
C |
A |
7: 48,293,059 (GRCm39) |
C164F |
probably damaging |
Het |
| Mtg2 |
A |
G |
2: 179,725,180 (GRCm39) |
Y131C |
probably damaging |
Het |
| Nacc1 |
C |
T |
8: 85,403,174 (GRCm39) |
A234T |
probably benign |
Het |
| Nsmaf |
C |
T |
4: 6,416,641 (GRCm39) |
V551I |
probably benign |
Het |
| Or13a26 |
T |
A |
7: 140,284,942 (GRCm39) |
C259* |
probably null |
Het |
| Or7e175 |
T |
A |
9: 20,048,737 (GRCm39) |
Y108* |
probably null |
Het |
| Oxr1 |
C |
T |
15: 41,677,004 (GRCm39) |
P187L |
not run |
Het |
| Pcdhb12 |
T |
A |
18: 37,569,068 (GRCm39) |
D71E |
probably benign |
Het |
| Pigt |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
2: 164,341,589 (GRCm39) |
|
probably null |
Het |
| Pkm |
A |
G |
9: 59,576,196 (GRCm39) |
S127G |
probably benign |
Het |
| Plxna2 |
T |
A |
1: 194,479,227 (GRCm39) |
L1296H |
probably damaging |
Het |
| Ppil6 |
C |
G |
10: 41,374,524 (GRCm39) |
T135R |
probably benign |
Het |
| Ppp2r3d |
T |
C |
9: 101,004,203 (GRCm39) |
Y378C |
probably damaging |
Het |
| Rabep2 |
C |
T |
7: 126,043,377 (GRCm39) |
R426C |
probably damaging |
Het |
| Rad21 |
A |
T |
15: 51,845,976 (GRCm39) |
H31Q |
possibly damaging |
Het |
| Rad50 |
G |
T |
11: 53,545,776 (GRCm39) |
Y1182* |
probably null |
Het |
| Serpinb9c |
C |
T |
13: 33,335,883 (GRCm39) |
A218T |
possibly damaging |
Het |
| Slc45a4 |
C |
A |
15: 73,458,785 (GRCm39) |
E255* |
probably null |
Het |
| Slc8a3 |
T |
A |
12: 81,263,598 (GRCm39) |
K596N |
possibly damaging |
Het |
| Tbc1d32 |
A |
C |
10: 55,927,483 (GRCm39) |
|
probably null |
Het |
| Tbl2 |
T |
A |
5: 135,183,253 (GRCm39) |
I112N |
possibly damaging |
Het |
| Tchp |
A |
C |
5: 114,853,630 (GRCm39) |
K238T |
probably damaging |
Het |
| Tfap2d |
G |
A |
1: 19,189,207 (GRCm39) |
G251D |
probably damaging |
Het |
| Thrb |
T |
A |
14: 18,030,186 (GRCm38) |
M324K |
probably damaging |
Het |
| Tmem259 |
A |
T |
10: 79,814,300 (GRCm39) |
L328Q |
probably damaging |
Het |
| Tmtc2 |
T |
C |
10: 105,249,469 (GRCm39) |
H88R |
probably damaging |
Het |
| Tnfrsf21 |
A |
G |
17: 43,348,709 (GRCm39) |
H107R |
possibly damaging |
Het |
| Trib1 |
T |
C |
15: 59,526,471 (GRCm39) |
V347A |
probably benign |
Het |
| Ung |
T |
A |
5: 114,269,315 (GRCm39) |
L9* |
probably null |
Het |
| Vmn1r195 |
G |
T |
13: 22,463,174 (GRCm39) |
V215F |
probably damaging |
Het |
| Wdr90 |
A |
G |
17: 26,065,286 (GRCm39) |
S1657P |
probably benign |
Het |
| Wdsub1 |
A |
T |
2: 59,708,487 (GRCm39) |
Y129N |
possibly damaging |
Het |
| Zfp369 |
T |
G |
13: 65,432,832 (GRCm39) |
|
probably null |
Het |
| Zfp770 |
G |
T |
2: 114,026,142 (GRCm39) |
C642* |
probably null |
Het |
| Zfp981 |
C |
T |
4: 146,622,100 (GRCm39) |
R342C |
probably benign |
Het |
| Zhx3 |
A |
C |
2: 160,623,042 (GRCm39) |
V375G |
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 |
|
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 |
|
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'- CCAAGTTGGTATGTGTGGTAGAAAG -3'
(R):5'- AAAATGGCCCACAGTGGCAG -3'
Sequencing Primer
(F):5'- GTAGAAAGGCTGTGGTATTTCAAAC -3'
(R):5'- ATCTGACCATCGCCTTTATGGGG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation