Incidental Mutation 'PIT4618001:Slc17a5'
| ID |
555704 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc17a5
|
| Ensembl Gene |
ENSMUSG00000049624 |
| Gene Name |
solute carrier family 17 (anion/sugar transporter), member 5 |
| Synonyms |
4631416G20Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.705)
|
| Stock # |
PIT4618001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
78443770-78495323 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 78445530 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 468
(V468M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056182
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052441]
[ENSMUST00000117645]
|
| AlphaFold |
Q8BN82 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000052441
AA Change: V468M
PolyPhen 2
Score 0.516 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000056182
Gene: ENSMUSG00000049624
AA Change: V468M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
46 |
441 |
1.8e-61 |
PFAM |
|
transmembrane domain
|
456 |
478 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000117645
AA Change: V442M
PolyPhen 2
Score 0.648 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000113003
Gene: ENSMUSG00000049624
AA Change: V442M
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
43 |
65 |
N/A |
INTRINSIC |
|
Pfam:MFS_1
|
97 |
415 |
2.5e-50 |
PFAM |
|
transmembrane domain
|
430 |
452 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 93.4%
- 3x: 91.0%
- 10x: 85.9%
- 20x: 75.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a membrane transporter that exports free sialic acids that have been cleaved off of cell surface lipids and proteins from lysosomes. Mutations in this gene cause sialic acid storage diseases, including infantile sialic acid storage disorder and and Salla disease, an adult form. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice exhibit numerous neurological abnormalities, including impaired exploratory and locomotor activity, hearing deficits, and an increased depressive-like response. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700028K03Rik |
A |
T |
5: 107,693,575 (GRCm39) |
D64V |
probably damaging |
Het |
| Ankdd1a |
A |
C |
9: 65,414,932 (GRCm39) |
I268S |
possibly damaging |
Het |
| Atad3a |
C |
T |
4: 155,834,595 (GRCm39) |
R402Q |
probably benign |
Het |
| C3ar1 |
A |
G |
6: 122,827,746 (GRCm39) |
V157A |
probably benign |
Het |
| Cd200l1 |
A |
G |
16: 45,264,297 (GRCm39) |
F87S |
probably benign |
Het |
| Cd55 |
C |
T |
1: 130,384,606 (GRCm39) |
V206I |
probably benign |
Het |
| Cd8a |
A |
G |
6: 71,350,661 (GRCm39) |
D42G |
possibly damaging |
Het |
| Cemip |
G |
T |
7: 83,593,147 (GRCm39) |
F1185L |
probably benign |
Het |
| Cfap58 |
A |
G |
19: 47,963,953 (GRCm39) |
D527G |
probably damaging |
Het |
| Cyp2a12 |
C |
A |
7: 26,734,198 (GRCm39) |
S377Y |
probably benign |
Het |
| Dapk2 |
A |
G |
9: 66,175,968 (GRCm39) |
D289G |
probably benign |
Het |
| Efcab6 |
G |
A |
15: 83,867,647 (GRCm39) |
A277V |
probably benign |
Het |
| Ephx2 |
A |
T |
14: 66,339,671 (GRCm39) |
F250L |
probably damaging |
Het |
| Flg2 |
A |
T |
3: 93,111,088 (GRCm39) |
S1039C |
unknown |
Het |
| Gramd1a |
A |
G |
7: 30,832,021 (GRCm39) |
V674A |
probably benign |
Het |
| Gtf2a1 |
A |
C |
12: 91,534,543 (GRCm39) |
V237G |
probably benign |
Het |
| I830077J02Rik |
G |
A |
3: 105,833,886 (GRCm39) |
T90M |
probably damaging |
Het |
| Jagn1 |
T |
A |
6: 113,424,398 (GRCm39) |
L90H |
probably damaging |
Het |
| Mdn1 |
G |
T |
4: 32,746,527 (GRCm39) |
A4158S |
probably benign |
Het |
| Myh11 |
G |
A |
16: 14,018,930 (GRCm39) |
A1839V |
|
Het |
| Olr1 |
G |
A |
6: 129,476,869 (GRCm39) |
A132V |
probably damaging |
Het |
| Paqr3 |
A |
T |
5: 97,251,330 (GRCm39) |
H131Q |
possibly damaging |
Het |
| Pde4b |
A |
T |
4: 102,460,009 (GRCm39) |
T397S |
probably benign |
Het |
| Pon1 |
A |
G |
6: 5,168,349 (GRCm39) |
C353R |
probably damaging |
Het |
| Ppie |
G |
A |
4: 123,032,661 (GRCm39) |
T43I |
probably null |
Het |
| Prr5l |
A |
G |
2: 101,588,875 (GRCm39) |
F92L |
probably damaging |
Het |
| Rai14 |
T |
C |
15: 10,575,242 (GRCm39) |
Y601C |
probably damaging |
Het |
| Rasal1 |
A |
G |
5: 120,808,441 (GRCm39) |
D491G |
probably damaging |
Het |
| Rbm12b1 |
T |
A |
4: 12,145,441 (GRCm39) |
V471E |
probably damaging |
Het |
| Rpusd2 |
T |
C |
2: 118,868,933 (GRCm39) |
L452P |
possibly damaging |
Het |
| Scgb2b24 |
A |
T |
7: 33,438,036 (GRCm39) |
C24S |
probably damaging |
Het |
| Tcp10c |
A |
G |
17: 13,576,772 (GRCm39) |
K117R |
possibly damaging |
Het |
| Ubash3b |
A |
G |
9: 40,927,923 (GRCm39) |
S584P |
probably benign |
Het |
| Vps13b |
C |
T |
15: 35,709,386 (GRCm39) |
R1778C |
probably damaging |
Het |
| Ythdc2 |
A |
G |
18: 44,967,665 (GRCm39) |
I220M |
probably benign |
Het |
| Zfp474 |
C |
A |
18: 52,771,476 (GRCm39) |
T43K |
probably damaging |
Het |
| Zscan4-ps3 |
G |
A |
7: 11,347,261 (GRCm39) |
M432I |
probably benign |
Het |
|
| Other mutations in Slc17a5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00589:Slc17a5
|
APN |
9 |
78,485,816 (GRCm39) |
missense |
probably benign |
|
|
IGL00828:Slc17a5
|
APN |
9 |
78,485,833 (GRCm39) |
missense |
probably benign |
0.37 |
|
IGL01603:Slc17a5
|
APN |
9 |
78,481,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01945:Slc17a5
|
APN |
9 |
78,495,214 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03250:Slc17a5
|
APN |
9 |
78,485,846 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0136:Slc17a5
|
UTSW |
9 |
78,485,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0245:Slc17a5
|
UTSW |
9 |
78,448,206 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0305:Slc17a5
|
UTSW |
9 |
78,464,819 (GRCm39) |
missense |
probably benign |
0.25 |
|
R0481:Slc17a5
|
UTSW |
9 |
78,445,584 (GRCm39) |
splice site |
probably null |
|
|
R0657:Slc17a5
|
UTSW |
9 |
78,485,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0763:Slc17a5
|
UTSW |
9 |
78,460,372 (GRCm39) |
splice site |
probably benign |
|
|
R1543:Slc17a5
|
UTSW |
9 |
78,468,082 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1564:Slc17a5
|
UTSW |
9 |
78,485,981 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2155:Slc17a5
|
UTSW |
9 |
78,484,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2483:Slc17a5
|
UTSW |
9 |
78,445,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3623:Slc17a5
|
UTSW |
9 |
78,445,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4193:Slc17a5
|
UTSW |
9 |
78,466,388 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R4794:Slc17a5
|
UTSW |
9 |
78,481,997 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5115:Slc17a5
|
UTSW |
9 |
78,484,394 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5141:Slc17a5
|
UTSW |
9 |
78,448,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5205:Slc17a5
|
UTSW |
9 |
78,485,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5953:Slc17a5
|
UTSW |
9 |
78,464,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6481:Slc17a5
|
UTSW |
9 |
78,445,553 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7375:Slc17a5
|
UTSW |
9 |
78,495,174 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8309:Slc17a5
|
UTSW |
9 |
78,478,311 (GRCm39) |
nonsense |
probably null |
|
|
R8720:Slc17a5
|
UTSW |
9 |
78,485,945 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9286:Slc17a5
|
UTSW |
9 |
78,445,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9425:Slc17a5
|
UTSW |
9 |
78,484,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9567:Slc17a5
|
UTSW |
9 |
78,445,562 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCTCTCACATAGAATGCTTGCAC -3'
(R):5'- CCTGTCATGGAGCAGAACAC -3'
Sequencing Primer
(F):5'- TGCTTGCACATTCAAATACCAAAGG -3'
(R):5'- GCTGGACTGAAGAATCTCTCCTCAG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation