Incidental Mutation 'R6281:Slc17a3'
| ID |
507970 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc17a3
|
| Ensembl Gene |
ENSMUSG00000036083 |
| Gene Name |
solute carrier family 17 (sodium phosphate), member 3 |
| Synonyms |
Npt4 |
| MMRRC Submission |
044451-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6281 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
24023417-24044699 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 24040782 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 336
(I336N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089290
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039721]
[ENSMUST00000091698]
[ENSMUST00000110422]
[ENSMUST00000166467]
|
| AlphaFold |
G3UWD9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039721
AA Change: I414N
PolyPhen 2
Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000039062
Gene: ENSMUSG00000036083
AA Change: I414N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
45 |
377 |
3.3e-46 |
PFAM |
|
transmembrane domain
|
393 |
415 |
N/A |
INTRINSIC |
|
transmembrane domain
|
430 |
452 |
N/A |
INTRINSIC |
|
transmembrane domain
|
459 |
481 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091698
AA Change: I336N
PolyPhen 2
Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000089290
Gene: ENSMUSG00000036083
AA Change: I336N
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
33 |
55 |
N/A |
INTRINSIC |
|
Pfam:MFS_1
|
95 |
293 |
2.8e-25 |
PFAM |
|
transmembrane domain
|
310 |
332 |
N/A |
INTRINSIC |
|
transmembrane domain
|
352 |
369 |
N/A |
INTRINSIC |
|
transmembrane domain
|
379 |
398 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110422
AA Change: I378N
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000106052
Gene: ENSMUSG00000036083
AA Change: I378N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
39 |
425 |
6.7e-47 |
PFAM |
|
transmembrane domain
|
453 |
475 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166467
AA Change: I414N
PolyPhen 2
Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000131308
Gene: ENSMUSG00000036083
AA Change: I414N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
9 |
338 |
2.3e-46 |
PFAM |
|
transmembrane domain
|
357 |
379 |
N/A |
INTRINSIC |
|
transmembrane domain
|
394 |
416 |
N/A |
INTRINSIC |
|
transmembrane domain
|
423 |
445 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1808 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (40/40) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a voltage-driven transporter that excretes intracellular urate and organic anions from the blood into renal tubule cells. Two transcript variants encoding different isoforms have been found for this gene. The longer isoform is a plasma membrane protein with transporter activity while the shorter isoform localizes to the endoplasmic reticulum. [provided by RefSeq, Aug 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018B08Rik |
C |
A |
8: 122,258,620 (GRCm39) |
C166F |
probably damaging |
Het |
| Aida |
C |
T |
1: 183,103,145 (GRCm39) |
A237V |
probably damaging |
Het |
| Ankib1 |
T |
C |
5: 3,751,965 (GRCm39) |
T692A |
possibly damaging |
Het |
| As3mt |
T |
C |
19: 46,713,362 (GRCm39) |
V303A |
possibly damaging |
Het |
| Bhlhe40 |
T |
A |
6: 108,641,423 (GRCm39) |
|
probably null |
Het |
| Bhmt2 |
G |
A |
13: 93,799,668 (GRCm39) |
P256L |
probably damaging |
Het |
| Bpifb1 |
T |
C |
2: 154,048,385 (GRCm39) |
I140T |
probably damaging |
Het |
| Cat |
A |
T |
2: 103,302,114 (GRCm39) |
H194Q |
probably damaging |
Het |
| Cbfa2t3 |
C |
A |
8: 123,360,148 (GRCm39) |
R466L |
probably damaging |
Het |
| Fancm |
T |
C |
12: 65,135,044 (GRCm39) |
V279A |
probably damaging |
Het |
| Gabra2 |
T |
C |
5: 71,192,105 (GRCm39) |
T75A |
probably damaging |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gm3512 |
T |
A |
14: 7,159,254 (GRCm38) |
D7V |
possibly damaging |
Het |
| Gpr15 |
A |
G |
16: 58,538,957 (GRCm39) |
F44S |
probably damaging |
Het |
| Ighv1-72 |
C |
A |
12: 115,722,023 (GRCm39) |
C5F |
probably benign |
Het |
| Lilra6 |
A |
G |
7: 3,914,972 (GRCm39) |
L474P |
probably damaging |
Het |
| Mboat2 |
T |
C |
12: 25,007,678 (GRCm39) |
V297A |
probably benign |
Het |
| Muc2 |
C |
G |
7: 141,306,140 (GRCm39) |
C276W |
probably damaging |
Het |
| Ncor1 |
T |
C |
11: 62,264,371 (GRCm39) |
S141G |
possibly damaging |
Het |
| Or4k77 |
T |
C |
2: 111,199,894 (GRCm39) |
*306R |
probably null |
Het |
| Or5p80 |
T |
G |
7: 108,229,609 (GRCm39) |
S137A |
probably benign |
Het |
| Pax5 |
T |
G |
4: 44,691,955 (GRCm39) |
E97A |
probably benign |
Het |
| Pcdhga11 |
A |
T |
18: 37,890,426 (GRCm39) |
D478V |
probably damaging |
Het |
| Peg10 |
GAT |
GATCAT |
6: 4,756,449 (GRCm39) |
|
probably benign |
Het |
| Phf21b |
G |
T |
15: 84,738,946 (GRCm39) |
D38E |
probably benign |
Het |
| Ptcd1 |
T |
C |
5: 145,101,881 (GRCm39) |
K146R |
probably benign |
Het |
| Rad23a |
A |
T |
8: 85,564,739 (GRCm39) |
M166K |
probably damaging |
Het |
| Rfc4 |
A |
T |
16: 22,936,816 (GRCm39) |
|
probably null |
Het |
| Slc2a12 |
T |
A |
10: 22,541,219 (GRCm39) |
M358K |
probably damaging |
Het |
| Stk31 |
T |
G |
6: 49,446,114 (GRCm39) |
M939R |
possibly damaging |
Het |
| Tecrl |
T |
A |
5: 83,442,453 (GRCm39) |
T167S |
probably damaging |
Het |
| Tfap2d |
G |
C |
1: 19,174,702 (GRCm39) |
G52R |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,772,172 (GRCm39) |
V2577M |
probably damaging |
Het |
| Uox |
C |
T |
3: 146,330,332 (GRCm39) |
R163* |
probably null |
Het |
| Vezt |
G |
A |
10: 93,809,808 (GRCm39) |
R578C |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Vwa3b |
T |
A |
1: 37,163,063 (GRCm39) |
L562Q |
probably damaging |
Het |
| Zfyve27 |
T |
A |
19: 42,171,194 (GRCm39) |
N127K |
probably damaging |
Het |
| Znfx1 |
A |
G |
2: 166,897,805 (GRCm39) |
F373S |
probably damaging |
Het |
| Zswim8 |
G |
A |
14: 20,764,708 (GRCm39) |
V693I |
probably benign |
Het |
|
| Other mutations in Slc17a3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00920:Slc17a3
|
APN |
13 |
24,040,464 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL02569:Slc17a3
|
APN |
13 |
24,030,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02628:Slc17a3
|
APN |
13 |
24,026,434 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
IGL02745:Slc17a3
|
APN |
13 |
24,026,469 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03001:Slc17a3
|
APN |
13 |
24,040,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03143:Slc17a3
|
APN |
13 |
24,039,962 (GRCm39) |
splice site |
probably null |
|
|
IGL03144:Slc17a3
|
APN |
13 |
24,030,423 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0052:Slc17a3
|
UTSW |
13 |
24,039,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0054:Slc17a3
|
UTSW |
13 |
24,039,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0131:Slc17a3
|
UTSW |
13 |
24,039,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0131:Slc17a3
|
UTSW |
13 |
24,039,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0152:Slc17a3
|
UTSW |
13 |
24,039,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0153:Slc17a3
|
UTSW |
13 |
24,039,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0233:Slc17a3
|
UTSW |
13 |
24,039,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0234:Slc17a3
|
UTSW |
13 |
24,039,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0257:Slc17a3
|
UTSW |
13 |
24,039,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0294:Slc17a3
|
UTSW |
13 |
24,039,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0295:Slc17a3
|
UTSW |
13 |
24,039,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0318:Slc17a3
|
UTSW |
13 |
24,039,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0319:Slc17a3
|
UTSW |
13 |
24,039,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0352:Slc17a3
|
UTSW |
13 |
24,039,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0462:Slc17a3
|
UTSW |
13 |
24,039,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0610:Slc17a3
|
UTSW |
13 |
24,039,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0627:Slc17a3
|
UTSW |
13 |
24,039,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0652:Slc17a3
|
UTSW |
13 |
24,039,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0765:Slc17a3
|
UTSW |
13 |
24,030,879 (GRCm39) |
nonsense |
probably null |
|
|
R1529:Slc17a3
|
UTSW |
13 |
24,029,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1532:Slc17a3
|
UTSW |
13 |
24,040,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1569:Slc17a3
|
UTSW |
13 |
24,039,591 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1640:Slc17a3
|
UTSW |
13 |
24,036,340 (GRCm39) |
nonsense |
probably null |
|
|
R1643:Slc17a3
|
UTSW |
13 |
24,041,181 (GRCm39) |
splice site |
probably benign |
|
|
R1715:Slc17a3
|
UTSW |
13 |
24,040,724 (GRCm39) |
missense |
probably benign |
0.19 |
|
R2407:Slc17a3
|
UTSW |
13 |
24,036,418 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2512:Slc17a3
|
UTSW |
13 |
24,030,230 (GRCm39) |
missense |
probably benign |
0.13 |
|
R3923:Slc17a3
|
UTSW |
13 |
24,042,037 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4449:Slc17a3
|
UTSW |
13 |
24,040,715 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5166:Slc17a3
|
UTSW |
13 |
24,026,525 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5748:Slc17a3
|
UTSW |
13 |
24,040,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5989:Slc17a3
|
UTSW |
13 |
24,026,411 (GRCm39) |
start gained |
probably benign |
|
|
R6811:Slc17a3
|
UTSW |
13 |
24,039,924 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R7283:Slc17a3
|
UTSW |
13 |
24,039,831 (GRCm39) |
missense |
|
|
|
R7341:Slc17a3
|
UTSW |
13 |
24,030,867 (GRCm39) |
nonsense |
probably null |
|
|
R7467:Slc17a3
|
UTSW |
13 |
24,030,950 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7485:Slc17a3
|
UTSW |
13 |
24,039,832 (GRCm39) |
missense |
|
|
|
R8065:Slc17a3
|
UTSW |
13 |
24,042,070 (GRCm39) |
missense |
unknown |
|
|
R8770:Slc17a3
|
UTSW |
13 |
24,039,607 (GRCm39) |
missense |
|
|
|
R8809:Slc17a3
|
UTSW |
13 |
24,039,575 (GRCm39) |
nonsense |
probably null |
|
|
R8867:Slc17a3
|
UTSW |
13 |
24,039,943 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTGCATTGCATGGTGTAAGC -3'
(R):5'- ACCATGCATATTCAATGGGAAGC -3'
Sequencing Primer
(F):5'- GCATGGTGTAAGCATTTAACAGTC -3'
(R):5'- GCGATTTAACAAGTGCATATTTCACC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation