Incidental Mutation 'R3839:Slc17a4'
| ID |
277065 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc17a4
|
| Ensembl Gene |
ENSMUSG00000021336 |
| Gene Name |
solute carrier family 17 (sodium phosphate), member 4 |
| Synonyms |
9130214H05Rik |
| MMRRC Submission |
040892-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R3839 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
24081862-24098992 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 24085752 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 387
(R387H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106037
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021769]
[ENSMUST00000110407]
[ENSMUST00000225797]
|
| AlphaFold |
Q5NCM1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021769
AA Change: R387H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000021769
Gene: ENSMUSG00000021336
AA Change: R387H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
40 |
373 |
1.4e-48 |
PFAM |
|
Pfam:MFS_1
|
361 |
492 |
2.4e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110407
AA Change: R387H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000106037
Gene: ENSMUSG00000021336
AA Change: R387H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
40 |
371 |
1.7e-47 |
PFAM |
|
Pfam:MFS_1
|
359 |
490 |
3.9e-10 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224360
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225763
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225797
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.8%
- 20x: 96.4%
|
| Validation Efficiency |
98% (48/49) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Phosphate homeostasis is maintained by regulating intake, intestinal absorption, bone deposition and resorption, and renal excretion of phosphate. The central molecule in the control of phosphate excretion from the kidney is the sodium/phosphate cotransporter NPT1 (SLC17A1; MIM 182308), which is located in the renal proximal tubule. NPT1 uses the transmembrane electrochemical potential gradient of sodium to transport phosphate across the cell membrane. SLC17A4 is a similar sodium/phosphate cotransporter in the intestinal mucosa that plays an important role in the absorption of phosphate from the intestine (summary by Shibui et al., 1999 [PubMed 10319585]).[supplied by OMIM, Feb 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700028I16Rik |
A |
G |
10: 82,648,219 (GRCm39) |
|
noncoding transcript |
Het |
| Abraxas2 |
T |
A |
7: 132,484,867 (GRCm39) |
S303R |
probably benign |
Het |
| Ackr3 |
G |
A |
1: 90,141,850 (GRCm39) |
S103N |
probably damaging |
Het |
| Arhgef25 |
T |
C |
10: 127,025,605 (GRCm39) |
T12A |
probably benign |
Het |
| Aspm |
C |
T |
1: 139,405,792 (GRCm39) |
H1560Y |
probably benign |
Het |
| Atg10 |
A |
T |
13: 91,085,499 (GRCm39) |
I150K |
probably damaging |
Het |
| AW551984 |
T |
C |
9: 39,509,204 (GRCm39) |
|
probably benign |
Het |
| Cald1 |
A |
T |
6: 34,722,700 (GRCm39) |
D122V |
probably damaging |
Het |
| Cc2d2a |
T |
C |
5: 43,876,056 (GRCm39) |
V1011A |
probably benign |
Het |
| Cdh9 |
G |
T |
15: 16,823,524 (GRCm39) |
E169* |
probably null |
Het |
| Cmbl |
T |
C |
15: 31,582,144 (GRCm39) |
V47A |
probably damaging |
Het |
| Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
| Ctnnd2 |
T |
A |
15: 31,009,174 (GRCm39) |
|
probably null |
Het |
| Cyp4a10 |
A |
C |
4: 115,382,544 (GRCm39) |
E278A |
possibly damaging |
Het |
| Ddx56 |
T |
C |
11: 6,217,712 (GRCm39) |
D3G |
probably benign |
Het |
| Dnajb2 |
G |
A |
1: 75,218,124 (GRCm39) |
|
probably null |
Het |
| Eif3d |
T |
A |
15: 77,848,300 (GRCm39) |
T211S |
probably benign |
Het |
| Fam13c |
C |
T |
10: 70,378,478 (GRCm39) |
S336L |
probably damaging |
Het |
| Garnl3 |
C |
T |
2: 32,879,558 (GRCm39) |
G923S |
probably benign |
Het |
| Gcnt4 |
A |
T |
13: 97,083,522 (GRCm39) |
R273* |
probably null |
Het |
| Gldc |
T |
A |
19: 30,096,075 (GRCm39) |
|
probably benign |
Het |
| Glra2 |
C |
T |
X: 164,072,612 (GRCm39) |
V85I |
probably benign |
Het |
| Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably null |
Het |
| Gpam |
T |
C |
19: 55,068,890 (GRCm39) |
N450S |
probably benign |
Het |
| Gpr156 |
T |
A |
16: 37,808,962 (GRCm39) |
V228D |
probably damaging |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Hmgcr |
A |
G |
13: 96,795,597 (GRCm39) |
I324T |
probably benign |
Het |
| Itga3 |
A |
G |
11: 94,948,095 (GRCm39) |
|
probably null |
Het |
| Itih1 |
T |
A |
14: 30,657,785 (GRCm39) |
N429Y |
probably damaging |
Het |
| Klhl40 |
A |
G |
9: 121,609,482 (GRCm39) |
Y453C |
possibly damaging |
Het |
| Mid1ip1 |
T |
C |
X: 10,584,620 (GRCm39) |
V51A |
possibly damaging |
Het |
| Msn |
C |
A |
X: 95,203,805 (GRCm39) |
Q303K |
probably damaging |
Het |
| Nap1l1 |
T |
A |
10: 111,331,183 (GRCm39) |
|
probably null |
Het |
| Rala |
A |
T |
13: 18,067,759 (GRCm39) |
C91S |
probably damaging |
Het |
| Rps9 |
A |
G |
7: 3,709,823 (GRCm39) |
|
probably benign |
Het |
| Sdr16c5 |
C |
A |
4: 4,006,601 (GRCm39) |
M230I |
probably damaging |
Het |
| Sec14l3 |
A |
G |
11: 4,021,544 (GRCm39) |
|
probably null |
Het |
| Senp2 |
T |
C |
16: 21,828,485 (GRCm39) |
S32P |
probably damaging |
Het |
| Skor1 |
A |
C |
9: 63,051,730 (GRCm39) |
S746R |
probably damaging |
Het |
| Slc47a1 |
G |
T |
11: 61,243,884 (GRCm39) |
|
probably benign |
Het |
| Slit3 |
A |
T |
11: 35,399,064 (GRCm39) |
N143I |
probably benign |
Het |
| Tpbg |
T |
C |
9: 85,725,167 (GRCm39) |
|
probably benign |
Het |
| Tubb2a |
G |
T |
13: 34,259,294 (GRCm39) |
N165K |
probably benign |
Het |
| Usp14 |
A |
G |
18: 10,024,532 (GRCm39) |
|
probably null |
Het |
| Vmn2r109 |
A |
G |
17: 20,774,704 (GRCm39) |
V217A |
probably damaging |
Het |
| Zfp108 |
A |
G |
7: 23,959,981 (GRCm39) |
I191V |
probably benign |
Het |
|
| Other mutations in Slc17a4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01724:Slc17a4
|
APN |
13 |
24,089,516 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02976:Slc17a4
|
APN |
13 |
24,089,407 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4581001:Slc17a4
|
UTSW |
13 |
24,086,001 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4696001:Slc17a4
|
UTSW |
13 |
24,084,497 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1490:Slc17a4
|
UTSW |
13 |
24,088,736 (GRCm39) |
missense |
probably benign |
0.29 |
|
R1726:Slc17a4
|
UTSW |
13 |
24,089,574 (GRCm39) |
nonsense |
probably null |
|
|
R1866:Slc17a4
|
UTSW |
13 |
24,084,528 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R3820:Slc17a4
|
UTSW |
13 |
24,085,752 (GRCm39) |
missense |
probably benign |
|
|
R3821:Slc17a4
|
UTSW |
13 |
24,085,752 (GRCm39) |
missense |
probably benign |
|
|
R3837:Slc17a4
|
UTSW |
13 |
24,085,752 (GRCm39) |
missense |
probably benign |
|
|
R3838:Slc17a4
|
UTSW |
13 |
24,085,752 (GRCm39) |
missense |
probably benign |
|
|
R5347:Slc17a4
|
UTSW |
13 |
24,092,800 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5489:Slc17a4
|
UTSW |
13 |
24,082,825 (GRCm39) |
splice site |
probably null |
|
|
R6607:Slc17a4
|
UTSW |
13 |
24,089,397 (GRCm39) |
splice site |
probably null |
|
|
R7614:Slc17a4
|
UTSW |
13 |
24,090,580 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7730:Slc17a4
|
UTSW |
13 |
24,084,503 (GRCm39) |
nonsense |
probably null |
|
|
R7744:Slc17a4
|
UTSW |
13 |
24,085,767 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8532:Slc17a4
|
UTSW |
13 |
24,088,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8802:Slc17a4
|
UTSW |
13 |
24,089,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8804:Slc17a4
|
UTSW |
13 |
24,087,245 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9454:Slc17a4
|
UTSW |
13 |
24,085,910 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9628:Slc17a4
|
UTSW |
13 |
24,089,512 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGCATCAGAACAAGGGTAGC -3'
(R):5'- TGGCTGTGTCTGCATCATC -3'
Sequencing Primer
(F):5'- CTAGTGCTCCTGGACCTGAAC -3'
(R):5'- ATCATCCTTGGGGGCCTACTG -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation