Incidental Mutation 'R5668:Slc34a1'
ID |
442467 |
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 |
043311-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
R5668 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
55547435-55562508 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 55556898 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 365
(I365F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153038
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057167]
[ENSMUST00000224925]
[ENSMUST00000225259]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000057167
AA Change: I365F
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000059138 Gene: ENSMUSG00000021490 AA Change: I365F
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 |
noncoding transcript
Transcript: ENSMUST00000223954
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224043
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224925
AA Change: I246F
PolyPhen 2
Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000225259
AA Change: I365F
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225538
|
Meta Mutation Damage Score |
0.1245 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
99% (84/85) |
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: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actn4 |
A |
G |
7: 28,603,975 (GRCm39) |
W429R |
probably damaging |
Het |
Afg1l |
C |
T |
10: 42,236,236 (GRCm39) |
C272Y |
probably damaging |
Het |
Agrn |
T |
C |
4: 156,251,770 (GRCm39) |
T1831A |
probably damaging |
Het |
Aifm2 |
T |
C |
10: 61,561,696 (GRCm39) |
V14A |
probably damaging |
Het |
Angptl3 |
A |
T |
4: 98,920,321 (GRCm39) |
|
probably null |
Het |
Arfgap1 |
A |
T |
2: 180,615,912 (GRCm39) |
D197V |
possibly damaging |
Het |
Atp1a3 |
T |
C |
7: 24,678,294 (GRCm39) |
|
probably benign |
Het |
Brwd1 |
T |
C |
16: 95,817,350 (GRCm39) |
I1387M |
probably damaging |
Het |
Cavin4 |
A |
G |
4: 48,672,499 (GRCm39) |
T315A |
probably benign |
Het |
Cep128 |
T |
C |
12: 90,966,410 (GRCm39) |
T1066A |
probably benign |
Het |
Cln3 |
T |
C |
7: 126,171,558 (GRCm39) |
T376A |
probably benign |
Het |
Cntn4 |
A |
T |
6: 106,656,397 (GRCm39) |
|
silent |
Het |
Colec12 |
T |
A |
18: 9,848,963 (GRCm39) |
D380E |
probably damaging |
Het |
Csmd3 |
T |
C |
15: 47,559,151 (GRCm39) |
I2371V |
possibly damaging |
Het |
Cspg4b |
A |
G |
13: 113,453,701 (GRCm39) |
S55G |
possibly damaging |
Het |
Cxcl3 |
T |
C |
5: 90,935,299 (GRCm39) |
S99P |
unknown |
Het |
Ddx60 |
A |
G |
8: 62,453,612 (GRCm39) |
R1244G |
probably benign |
Het |
Dhx38 |
T |
C |
8: 110,280,048 (GRCm39) |
D914G |
probably damaging |
Het |
Dlc1 |
T |
G |
8: 37,404,655 (GRCm39) |
|
probably benign |
Het |
Eif4a3l1 |
A |
T |
6: 136,306,393 (GRCm39) |
I264F |
probably benign |
Het |
Fam161b |
A |
G |
12: 84,403,124 (GRCm39) |
S169P |
probably damaging |
Het |
Fastkd1 |
A |
G |
2: 69,537,725 (GRCm39) |
S286P |
possibly damaging |
Het |
Fmn2 |
A |
T |
1: 174,409,603 (GRCm39) |
E612V |
unknown |
Het |
Foxb1 |
T |
A |
9: 69,667,528 (GRCm39) |
M1L |
probably damaging |
Het |
Gm14412 |
A |
T |
2: 177,007,402 (GRCm39) |
C164* |
probably null |
Het |
Gm43302 |
T |
A |
5: 105,423,678 (GRCm39) |
M432L |
probably benign |
Het |
Gm4353 |
C |
A |
7: 115,682,913 (GRCm39) |
A223S |
probably damaging |
Het |
Gpatch8 |
T |
C |
11: 102,391,693 (GRCm39) |
K143R |
unknown |
Het |
Gpr15 |
A |
G |
16: 58,538,013 (GRCm39) |
S359P |
probably damaging |
Het |
Gucy2e |
A |
G |
11: 69,119,207 (GRCm39) |
L649P |
probably damaging |
Het |
H2-M10.5 |
C |
A |
17: 37,085,473 (GRCm39) |
H211N |
probably damaging |
Het |
Hs6st1 |
T |
C |
1: 36,142,970 (GRCm39) |
Y302H |
probably damaging |
Het |
Khdrbs2 |
A |
T |
1: 32,506,851 (GRCm39) |
D165V |
probably damaging |
Het |
Klra13-ps |
T |
G |
6: 130,281,246 (GRCm39) |
|
noncoding transcript |
Het |
Lrrc37 |
T |
A |
11: 103,507,880 (GRCm39) |
|
probably benign |
Het |
Lrrc37a |
T |
A |
11: 103,391,001 (GRCm39) |
T1475S |
probably benign |
Het |
Ly75 |
A |
G |
2: 60,184,844 (GRCm39) |
S437P |
probably damaging |
Het |
Maz |
C |
T |
7: 126,624,494 (GRCm39) |
C342Y |
probably damaging |
Het |
Mcf2l |
C |
A |
8: 13,063,812 (GRCm39) |
S1008* |
probably null |
Het |
Mcmbp |
T |
C |
7: 128,314,478 (GRCm39) |
D246G |
probably benign |
Het |
Mipol1 |
G |
A |
12: 57,372,346 (GRCm39) |
R135H |
possibly damaging |
Het |
Mycbp2 |
T |
A |
14: 103,357,955 (GRCm39) |
Y4613F |
possibly damaging |
Het |
Nup188 |
G |
A |
2: 30,226,336 (GRCm39) |
A1118T |
probably damaging |
Het |
Or10g6 |
A |
T |
9: 39,933,964 (GRCm39) |
I92F |
probably damaging |
Het |
Or2k2 |
T |
A |
4: 58,785,489 (GRCm39) |
I78F |
probably benign |
Het |
Or4a76 |
G |
A |
2: 89,460,688 (GRCm39) |
L185F |
probably damaging |
Het |
Or4c121 |
A |
T |
2: 89,024,170 (GRCm39) |
D69E |
possibly damaging |
Het |
Or4z4 |
A |
G |
19: 12,076,290 (GRCm39) |
S238P |
probably damaging |
Het |
Or51f1e |
A |
T |
7: 102,747,103 (GRCm39) |
S52C |
probably benign |
Het |
Or51h7 |
T |
C |
7: 102,591,128 (GRCm39) |
K219E |
probably benign |
Het |
P3h1 |
T |
A |
4: 119,101,243 (GRCm39) |
I460N |
possibly damaging |
Het |
Pcnt |
T |
C |
10: 76,245,334 (GRCm39) |
D1101G |
probably benign |
Het |
Phlpp2 |
C |
A |
8: 110,655,205 (GRCm39) |
Q667K |
possibly damaging |
Het |
Plec |
A |
G |
15: 76,074,666 (GRCm39) |
F434L |
possibly damaging |
Het |
Ppp6r2 |
T |
A |
15: 89,164,602 (GRCm39) |
I602N |
probably damaging |
Het |
Rdh8 |
A |
C |
9: 20,736,475 (GRCm39) |
I181L |
probably benign |
Het |
Rnf181 |
A |
G |
6: 72,338,505 (GRCm39) |
M1T |
probably null |
Het |
Rpl29-ps2 |
A |
G |
13: 4,664,221 (GRCm39) |
|
noncoding transcript |
Het |
Sart3 |
A |
G |
5: 113,883,217 (GRCm39) |
|
probably null |
Het |
Sec14l2 |
A |
C |
11: 4,059,189 (GRCm39) |
L160R |
probably damaging |
Het |
Senp1 |
C |
T |
15: 97,946,236 (GRCm39) |
R503H |
probably damaging |
Het |
Shoc1 |
A |
G |
4: 59,047,399 (GRCm39) |
S1407P |
probably benign |
Het |
Slc22a2 |
T |
C |
17: 12,827,296 (GRCm39) |
V316A |
probably benign |
Het |
Spag5 |
T |
C |
11: 78,195,542 (GRCm39) |
V283A |
possibly damaging |
Het |
Srebf2 |
C |
T |
15: 82,076,456 (GRCm39) |
T702I |
probably benign |
Het |
Sun3 |
A |
G |
11: 8,981,433 (GRCm39) |
|
probably null |
Het |
Syt6 |
A |
G |
3: 103,528,217 (GRCm39) |
Y312C |
probably damaging |
Het |
Tas2r121 |
T |
A |
6: 132,677,756 (GRCm39) |
Y72F |
possibly damaging |
Het |
Tfrc |
A |
G |
16: 32,442,194 (GRCm39) |
Y473C |
probably damaging |
Het |
Trp63 |
C |
T |
16: 25,684,935 (GRCm39) |
A274V |
possibly damaging |
Het |
Trpm5 |
T |
C |
7: 142,626,966 (GRCm39) |
D1085G |
probably benign |
Het |
Ttn |
A |
G |
2: 76,745,008 (GRCm39) |
V5347A |
probably benign |
Het |
Uqcc4 |
G |
A |
17: 25,403,963 (GRCm39) |
S101N |
probably damaging |
Het |
Vma21-ps |
T |
A |
4: 52,496,946 (GRCm39) |
Q100L |
possibly damaging |
Het |
Vmn2r22 |
T |
C |
6: 123,614,873 (GRCm39) |
N239S |
probably benign |
Het |
Wfdc8 |
T |
C |
2: 164,439,339 (GRCm39) |
|
probably benign |
Het |
Xkr4 |
T |
A |
1: 3,741,258 (GRCm39) |
Y105F |
probably damaging |
Het |
Xpo7 |
C |
T |
14: 70,920,286 (GRCm39) |
V627I |
possibly damaging |
Het |
Zfp606 |
T |
C |
7: 12,226,479 (GRCm39) |
V200A |
probably benign |
Het |
Zfp936 |
A |
T |
7: 42,839,858 (GRCm39) |
S441C |
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 |
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'- GCTGAAGGACCTAGATGTGG -3'
(R):5'- TAAGGAGCCTCCAGGATGAC -3'
Sequencing Primer
(F):5'- GGGGTCTTAGGCTCACAGCTC -3'
(R):5'- ACCTCTTCTTGATTCTTAGGGGAAC -3'
|
Posted On |
2016-11-09 |