Incidental Mutation 'R8932:Slc34a1'
| ID |
690253 |
| 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 |
068776-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.084)
|
| Stock # |
R8932 (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 C
at 24004184 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 395
(I395L)
|
| 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: I395L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000006786
Gene: ENSMUSG00000036110
AA Change: I395L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
19 |
425 |
3.5e-44 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099697
AA Change: I395L
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000097288
Gene: ENSMUSG00000036110
AA Change: I395L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
19 |
425 |
2.9e-45 |
PFAM |
|
transmembrane domain
|
443 |
462 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0719 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (67/67) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34 |
G |
T |
8: 44,105,192 (GRCm39) |
T151K |
probably benign |
Het |
| Adnp2 |
C |
T |
18: 80,185,893 (GRCm39) |
G27S |
probably damaging |
Het |
| Ank3 |
A |
G |
10: 69,660,292 (GRCm39) |
M265V |
probably benign |
Het |
| Aoc1l1 |
G |
A |
6: 48,952,428 (GRCm39) |
E118K |
probably damaging |
Het |
| Apoe |
T |
C |
7: 19,430,597 (GRCm39) |
D215G |
possibly damaging |
Het |
| Atp5f1b |
A |
G |
10: 127,924,850 (GRCm39) |
I438V |
probably benign |
Het |
| Bckdha |
A |
G |
7: 25,330,436 (GRCm39) |
S387P |
probably damaging |
Het |
| Camkk1 |
T |
C |
11: 72,924,734 (GRCm39) |
F316L |
probably damaging |
Het |
| Carmil1 |
A |
G |
13: 24,197,179 (GRCm39) |
Y158H |
|
Het |
| Ccdc148 |
T |
C |
2: 58,894,054 (GRCm39) |
R29G |
probably benign |
Het |
| Ccdc39 |
A |
G |
3: 33,884,274 (GRCm39) |
V356A |
probably benign |
Het |
| Cdan1 |
G |
A |
2: 120,561,568 (GRCm39) |
Q66* |
probably null |
Het |
| Ckap4 |
A |
T |
10: 84,364,290 (GRCm39) |
S258T |
probably benign |
Het |
| Col5a2 |
T |
C |
1: 45,419,306 (GRCm39) |
D1258G |
probably benign |
Het |
| Col6a1 |
G |
A |
10: 76,552,593 (GRCm39) |
P431L |
unknown |
Het |
| Cplane1 |
A |
G |
15: 8,223,859 (GRCm39) |
Y874C |
probably damaging |
Het |
| Csn1s2a |
A |
G |
5: 87,933,164 (GRCm39) |
I138V |
probably benign |
Het |
| Cyp19a1 |
C |
T |
9: 54,083,861 (GRCm39) |
G176D |
probably benign |
Het |
| Dnah10 |
A |
G |
5: 124,878,015 (GRCm39) |
E2700G |
possibly damaging |
Het |
| Eif3l |
T |
A |
15: 78,960,006 (GRCm39) |
Y23* |
probably null |
Het |
| Fam72a |
A |
G |
1: 131,456,502 (GRCm39) |
K22E |
probably benign |
Het |
| Golim4 |
A |
G |
3: 75,805,351 (GRCm39) |
V258A |
probably benign |
Het |
| Gtf2ird2 |
C |
T |
5: 134,237,739 (GRCm39) |
A272V |
probably benign |
Het |
| Hpse |
T |
C |
5: 100,846,872 (GRCm39) |
T186A |
possibly damaging |
Het |
| Ift140 |
A |
T |
17: 25,305,862 (GRCm39) |
Q816H |
probably benign |
Het |
| Iqca1 |
A |
T |
1: 90,067,750 (GRCm39) |
I167N |
probably damaging |
Het |
| Iqgap1 |
A |
T |
7: 80,401,141 (GRCm39) |
F515L |
probably benign |
Het |
| Itgb4 |
G |
A |
11: 115,879,295 (GRCm39) |
R558H |
probably benign |
Het |
| Kcna10 |
G |
A |
3: 107,101,419 (GRCm39) |
D17N |
probably damaging |
Het |
| Kcnj16 |
A |
G |
11: 110,915,829 (GRCm39) |
I164V |
probably damaging |
Het |
| Lrrc55 |
G |
T |
2: 85,026,615 (GRCm39) |
N136K |
probably damaging |
Het |
| Mdm4 |
A |
T |
1: 132,940,382 (GRCm39) |
M50K |
probably benign |
Het |
| Mfge8 |
A |
G |
7: 78,786,530 (GRCm39) |
S290P |
probably damaging |
Het |
| Mindy4 |
G |
A |
6: 55,201,115 (GRCm39) |
D267N |
probably benign |
Het |
| Mllt10 |
T |
A |
2: 18,128,617 (GRCm39) |
S199R |
probably benign |
Het |
| Mms22l |
T |
C |
4: 24,533,029 (GRCm39) |
S436P |
probably damaging |
Het |
| Mpped2 |
A |
G |
2: 106,697,395 (GRCm39) |
N290S |
possibly damaging |
Het |
| Mrgpra2a |
A |
G |
7: 47,076,445 (GRCm39) |
L271P |
probably benign |
Het |
| Myrf |
T |
A |
19: 10,200,931 (GRCm39) |
E247D |
probably benign |
Het |
| Ndrg3 |
A |
G |
2: 156,782,299 (GRCm39) |
I189T |
possibly damaging |
Het |
| Nenf |
C |
T |
1: 191,050,148 (GRCm39) |
E48K |
probably benign |
Het |
| Nlgn2 |
T |
A |
11: 69,718,994 (GRCm39) |
N232Y |
probably damaging |
Het |
| Oog2 |
G |
T |
4: 143,920,685 (GRCm39) |
M39I |
probably benign |
Het |
| Or9r7 |
A |
T |
10: 129,962,631 (GRCm39) |
N98K |
probably benign |
Het |
| Osbpl3 |
A |
T |
6: 50,304,371 (GRCm39) |
N461K |
probably benign |
Het |
| P4ha1 |
A |
G |
10: 59,175,130 (GRCm39) |
D30G |
possibly damaging |
Het |
| Pappa2 |
A |
T |
1: 158,590,762 (GRCm39) |
C1631S |
probably damaging |
Het |
| Pigk |
A |
G |
3: 152,445,871 (GRCm39) |
M161V |
possibly damaging |
Het |
| Prdm1 |
G |
T |
10: 44,317,335 (GRCm39) |
S496Y |
probably damaging |
Het |
| Prkg2 |
T |
C |
5: 99,095,299 (GRCm39) |
N624S |
possibly damaging |
Het |
| Rgs6 |
A |
G |
12: 83,112,733 (GRCm39) |
D181G |
probably damaging |
Het |
| Sbf2 |
A |
G |
7: 110,040,155 (GRCm39) |
|
probably null |
Het |
| Sbno2 |
A |
C |
10: 79,898,042 (GRCm39) |
L728W |
probably damaging |
Het |
| Selenbp2 |
A |
T |
3: 94,609,793 (GRCm39) |
I310F |
probably damaging |
Het |
| Shank3 |
T |
A |
15: 89,432,986 (GRCm39) |
W1244R |
possibly damaging |
Het |
| Slf1 |
A |
T |
13: 77,194,693 (GRCm39) |
D877E |
probably damaging |
Het |
| Smtn |
T |
C |
11: 3,472,908 (GRCm39) |
S255G |
probably benign |
Het |
| Tbx2 |
T |
A |
11: 85,725,533 (GRCm39) |
D161E |
probably damaging |
Het |
| Tex14 |
C |
A |
11: 87,324,675 (GRCm39) |
L26M |
possibly damaging |
Het |
| Traf7 |
A |
G |
17: 24,731,286 (GRCm39) |
F249S |
probably damaging |
Het |
| Trpm6 |
A |
G |
19: 18,815,366 (GRCm39) |
K1151E |
possibly damaging |
Het |
| Ttc7b |
A |
G |
12: 100,268,022 (GRCm39) |
V773A |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,747,912 (GRCm39) |
T4379I |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,602,854 (GRCm39) |
T18456I |
probably damaging |
Het |
| Ttn |
G |
C |
2: 76,709,171 (GRCm39) |
L8703V |
unknown |
Het |
| Ubb |
T |
A |
11: 62,442,979 (GRCm39) |
I3N |
probably damaging |
Het |
| Vmn1r209 |
A |
T |
13: 22,990,343 (GRCm39) |
W116R |
probably damaging |
Het |
| Vmn1r75 |
A |
G |
7: 11,614,838 (GRCm39) |
D190G |
probably damaging |
Het |
| Wdr12 |
T |
A |
1: 60,130,202 (GRCm39) |
M70L |
probably benign |
Het |
| Wdr48 |
C |
A |
9: 119,740,142 (GRCm39) |
T317K |
probably damaging |
Het |
| Zbtb5 |
A |
G |
4: 44,993,962 (GRCm39) |
V474A |
probably benign |
Het |
| Zfp128 |
C |
T |
7: 12,625,113 (GRCm39) |
R494C |
possibly 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 |
|
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 |
|
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'- CTCTTTTCATCCCTGGGTAAGG -3'
(R):5'- ATGGCTGTGAACCAACATTTC -3'
Sequencing Primer
(F):5'- TGTGGATTCAGGTAACCACTC -3'
(R):5'- GCTGTGAACCAACATTTCTAGTTATC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation