Incidental Mutation 'R7384:Slc34a1'
ID |
572979 |
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 |
045466-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
R7384 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
55547435-55562508 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 55550747 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Phenylalanine
at position 225
(C225F)
|
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 benign
Transcript: ENSMUST00000057167
AA Change: C225F
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000059138 Gene: ENSMUSG00000021490 AA Change: C225F
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
AA Change: C106F
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225259
AA Change: C225F
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 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: 87 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4fm5 |
T |
A |
4: 144,507,191 (GRCm39) |
I65F |
possibly damaging |
Het |
Abca13 |
C |
A |
11: 9,283,257 (GRCm39) |
S3226R |
probably damaging |
Het |
Abhd14b |
A |
G |
9: 106,327,340 (GRCm39) |
I41V |
probably benign |
Het |
Acot2 |
T |
C |
12: 84,039,441 (GRCm39) |
S317P |
probably benign |
Het |
Acp7 |
T |
C |
7: 28,314,513 (GRCm39) |
E284G |
possibly damaging |
Het |
Adamts5 |
A |
G |
16: 85,696,714 (GRCm39) |
F148L |
probably benign |
Het |
Adcy10 |
C |
T |
1: 165,404,177 (GRCm39) |
P1611S |
unknown |
Het |
Agr2 |
A |
G |
12: 36,045,923 (GRCm39) |
T57A |
probably damaging |
Het |
Ankar |
T |
G |
1: 72,697,624 (GRCm39) |
I1060L |
probably benign |
Het |
Ano10 |
T |
A |
9: 122,005,409 (GRCm39) |
D77V |
unknown |
Het |
Anxa2r1 |
T |
A |
13: 120,496,797 (GRCm39) |
Q24L |
possibly damaging |
Het |
Apc2 |
G |
A |
10: 80,148,458 (GRCm39) |
V1171I |
probably damaging |
Het |
Apoa4 |
G |
A |
9: 46,152,772 (GRCm39) |
R19Q |
not run |
Het |
Arhgap33 |
A |
G |
7: 30,226,696 (GRCm39) |
S504P |
probably damaging |
Het |
Atg2a |
T |
C |
19: 6,311,707 (GRCm39) |
V1862A |
probably damaging |
Het |
Atp7b |
T |
C |
8: 22,512,331 (GRCm39) |
S511G |
probably benign |
Het |
Bcl10 |
A |
G |
3: 145,638,795 (GRCm39) |
K146E |
possibly damaging |
Het |
Bsg |
A |
T |
10: 79,545,631 (GRCm39) |
D181V |
probably damaging |
Het |
Btg4 |
T |
C |
9: 51,030,413 (GRCm39) |
V171A |
probably benign |
Het |
Cdh8 |
A |
C |
8: 99,957,138 (GRCm39) |
N188K |
probably benign |
Het |
Cflar |
C |
A |
1: 58,791,735 (GRCm39) |
T346K |
|
Het |
Chrna5 |
T |
C |
9: 54,912,117 (GRCm39) |
S306P |
probably damaging |
Het |
Cldn20 |
G |
A |
17: 3,582,886 (GRCm39) |
G20R |
probably damaging |
Het |
Clns1a |
G |
A |
7: 97,345,988 (GRCm39) |
A18T |
probably benign |
Het |
D130043K22Rik |
A |
G |
13: 25,066,588 (GRCm39) |
Y795C |
probably damaging |
Het |
Dync1li2 |
A |
C |
8: 105,169,175 (GRCm39) |
S38A |
probably benign |
Het |
Dysf |
A |
G |
6: 84,091,087 (GRCm39) |
E1043G |
probably benign |
Het |
Elapor1 |
A |
T |
3: 108,370,784 (GRCm39) |
|
probably null |
Het |
Eral1 |
A |
G |
11: 77,964,927 (GRCm39) |
I422T |
possibly damaging |
Het |
Exoc3 |
G |
A |
13: 74,320,275 (GRCm39) |
P729S |
probably benign |
Het |
Eya1 |
T |
A |
1: 14,299,736 (GRCm39) |
Y339F |
probably damaging |
Het |
Faah |
G |
T |
4: 115,862,364 (GRCm39) |
N206K |
probably damaging |
Het |
Fem1a |
A |
G |
17: 56,564,537 (GRCm39) |
E210G |
probably benign |
Het |
Gcc2 |
T |
A |
10: 58,105,786 (GRCm39) |
S341T |
probably damaging |
Het |
Gfpt2 |
A |
T |
11: 49,701,817 (GRCm39) |
I123F |
possibly damaging |
Het |
Gm3047 |
T |
A |
14: 4,558,271 (GRCm38) |
N164K |
probably damaging |
Het |
Gm3327 |
A |
G |
14: 44,362,334 (GRCm39) |
K78E |
|
Het |
Herpud1 |
A |
G |
8: 95,116,005 (GRCm39) |
I57V |
probably damaging |
Het |
Homer1 |
A |
T |
13: 93,529,547 (GRCm39) |
R285S |
possibly damaging |
Het |
Hps6 |
T |
A |
19: 45,992,456 (GRCm39) |
V131E |
possibly damaging |
Het |
Il1r1 |
T |
A |
1: 40,321,421 (GRCm39) |
I11N |
possibly damaging |
Het |
Jakmip1 |
T |
A |
5: 37,330,551 (GRCm39) |
D410E |
possibly damaging |
Het |
Kif3a |
T |
A |
11: 53,469,681 (GRCm39) |
F97L |
probably damaging |
Het |
Klf11 |
C |
T |
12: 24,703,742 (GRCm39) |
T76I |
probably damaging |
Het |
Ldlr |
A |
C |
9: 21,651,090 (GRCm39) |
T503P |
probably benign |
Het |
Mapk3 |
G |
C |
7: 126,363,463 (GRCm39) |
R279P |
|
Het |
Mb21d2 |
A |
T |
16: 28,647,664 (GRCm39) |
D103E |
probably benign |
Het |
Msh4 |
T |
A |
3: 153,594,385 (GRCm39) |
M333L |
probably benign |
Het |
Mycbp2 |
A |
G |
14: 103,513,829 (GRCm39) |
I836T |
probably damaging |
Het |
Myh1 |
A |
T |
11: 67,115,201 (GRCm39) |
E1912V |
possibly damaging |
Het |
Ncapd2 |
A |
G |
6: 125,150,364 (GRCm39) |
V887A |
probably benign |
Het |
Nlrp4a |
G |
A |
7: 26,148,963 (GRCm39) |
R190Q |
not run |
Het |
Nop53 |
T |
C |
7: 15,673,420 (GRCm39) |
T344A |
probably damaging |
Het |
Or2r3 |
A |
T |
6: 42,448,257 (GRCm39) |
L285Q |
possibly damaging |
Het |
Or5an11 |
T |
C |
19: 12,246,440 (GRCm39) |
V282A |
possibly damaging |
Het |
Or7h8 |
A |
G |
9: 20,124,041 (GRCm39) |
Y132C |
probably damaging |
Het |
Pcyox1l |
A |
C |
18: 61,831,461 (GRCm39) |
V266G |
probably damaging |
Het |
Pde5a |
A |
G |
3: 122,618,649 (GRCm39) |
Y654C |
probably damaging |
Het |
Polq |
T |
C |
16: 36,849,780 (GRCm39) |
S345P |
probably damaging |
Het |
Polr1f |
G |
T |
12: 33,483,631 (GRCm39) |
G128W |
probably damaging |
Het |
Prdm1 |
A |
T |
10: 44,334,503 (GRCm39) |
C8S |
probably benign |
Het |
Psg17 |
T |
A |
7: 18,552,585 (GRCm39) |
Q230L |
possibly damaging |
Het |
Rab11fip5 |
A |
T |
6: 85,325,312 (GRCm39) |
S332T |
possibly damaging |
Het |
Rac2 |
T |
A |
15: 78,446,131 (GRCm39) |
K186* |
probably null |
Het |
S100pbp |
T |
C |
4: 129,075,702 (GRCm39) |
N208D |
probably benign |
Het |
Scaf11 |
A |
T |
15: 96,318,268 (GRCm39) |
V432D |
possibly damaging |
Het |
Skic3 |
A |
C |
13: 76,298,854 (GRCm39) |
S1187R |
possibly damaging |
Het |
Slc35e2 |
A |
T |
4: 155,695,089 (GRCm39) |
M152L |
probably benign |
Het |
Slc49a3 |
A |
T |
5: 108,593,926 (GRCm39) |
I61K |
probably damaging |
Het |
Slc9a4 |
T |
A |
1: 40,651,411 (GRCm39) |
I563K |
probably benign |
Het |
Sppl3 |
T |
G |
5: 115,199,700 (GRCm39) |
|
probably null |
Het |
Stam |
T |
C |
2: 14,139,241 (GRCm39) |
F301L |
probably benign |
Het |
Supt16 |
G |
A |
14: 52,418,619 (GRCm39) |
R213W |
probably damaging |
Het |
Tbc1d8 |
A |
T |
1: 39,433,179 (GRCm39) |
D334E |
probably benign |
Het |
Tmem87a |
C |
T |
2: 120,202,004 (GRCm39) |
|
probably null |
Het |
Tnk1 |
T |
C |
11: 69,742,447 (GRCm39) |
Y661C |
probably damaging |
Het |
Tnpo2 |
G |
A |
8: 85,776,748 (GRCm39) |
R485H |
probably damaging |
Het |
Tnxb |
A |
G |
17: 34,937,492 (GRCm39) |
D2947G |
probably damaging |
Het |
Traf4 |
A |
G |
11: 78,051,617 (GRCm39) |
|
probably null |
Het |
Trappc10 |
A |
T |
10: 78,045,218 (GRCm39) |
M490K |
possibly damaging |
Het |
Trav12-1 |
A |
G |
14: 53,775,993 (GRCm39) |
T49A |
probably benign |
Het |
Ubap1l |
AGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGA |
9: 65,279,032 (GRCm39) |
|
probably benign |
Het |
Unc79 |
G |
T |
12: 103,137,837 (GRCm39) |
V2485L |
probably benign |
Het |
Ush2a |
T |
C |
1: 188,132,360 (GRCm39) |
S861P |
probably damaging |
Het |
Vcam1 |
A |
G |
3: 115,910,877 (GRCm39) |
V507A |
possibly damaging |
Het |
Vmn1r218 |
A |
G |
13: 23,320,895 (GRCm39) |
M81V |
probably benign |
Het |
Zfp652 |
G |
T |
11: 95,643,830 (GRCm39) |
V343L |
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 |
R7288:Slc34a1
|
UTSW |
13 |
24,003,095 (GRCm39) |
missense |
probably benign |
0.09 |
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'- AACATCGGAACCTCTGTCAC -3'
(R):5'- ACCCTCACCTGGATGATGAGTC -3'
Sequencing Primer
(F):5'- ACCATTGTGGCCCTGATG -3'
(R):5'- CACCTGGATGATGAGTCTTGTGAAG -3'
|
Posted On |
2019-09-13 |