Incidental Mutation 'F6893:Slc45a3'
| ID |
208 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc45a3
|
| Ensembl Gene |
ENSMUSG00000026435 |
| Gene Name |
solute carrier family 45, member 3 |
| Synonyms |
Pcanap6, 2210413P12Rik, IPCA-6 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
F6893 (G3)
of strain
busy
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
131890705-131910707 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 131909075 bp (GRCm39)
|
| Zygosity |
Homozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 424
(E424G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136190
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027695]
[ENSMUST00000177943]
[ENSMUST00000190322]
|
| AlphaFold |
Q8K0H7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027695
AA Change: E424G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000027695
Gene: ENSMUSG00000026435
AA Change: E424G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
18 |
306 |
1.2e-12 |
PFAM |
|
Pfam:MFS_2
|
21 |
408 |
5.4e-11 |
PFAM |
|
transmembrane domain
|
520 |
542 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177943
AA Change: E424G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000136190
Gene: ENSMUSG00000026435
AA Change: E424G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
18 |
306 |
1.5e-12 |
PFAM |
|
Pfam:MFS_2
|
19 |
239 |
2.4e-13 |
PFAM |
|
transmembrane domain
|
320 |
342 |
N/A |
INTRINSIC |
|
transmembrane domain
|
355 |
377 |
N/A |
INTRINSIC |
|
transmembrane domain
|
382 |
404 |
N/A |
INTRINSIC |
|
transmembrane domain
|
520 |
542 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185387
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190322
|
| SMART Domains |
Protein: ENSMUSP00000140767
Gene: ENSMUSG00000026435
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_2
|
20 |
218 |
3.3e-9 |
PFAM |
|
Pfam:MFS_1
|
51 |
219 |
1.7e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191034
|
| Meta Mutation Damage Score |
0.0817 |
| Coding Region Coverage |
|
| Validation Efficiency |
88% (165/188) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
G |
A |
7: 119,924,261 (GRCm39) |
V1638M |
probably damaging |
Het |
| Agrn |
C |
T |
4: 156,258,636 (GRCm39) |
R972Q |
probably benign |
Het |
| Anxa3 |
T |
C |
5: 96,972,853 (GRCm39) |
|
probably benign |
Het |
| Bpifa6 |
G |
T |
2: 153,829,078 (GRCm39) |
D202Y |
probably damaging |
Het |
| Ccdc15 |
G |
A |
9: 37,226,936 (GRCm39) |
T346I |
probably damaging |
Homo |
| Celsr3 |
G |
A |
9: 108,712,266 (GRCm39) |
R1731H |
probably benign |
Het |
| Ces4a |
A |
G |
8: 105,873,859 (GRCm39) |
R443G |
possibly damaging |
Het |
| Chd2 |
T |
C |
7: 73,157,620 (GRCm39) |
Q175R |
possibly damaging |
Het |
| Dpyd |
T |
A |
3: 118,597,783 (GRCm39) |
|
probably null |
Het |
| Dscam |
G |
T |
16: 96,857,660 (GRCm39) |
H117N |
possibly damaging |
Het |
| F13a1 |
A |
G |
13: 37,155,999 (GRCm39) |
Y205H |
probably damaging |
Het |
| Fat3 |
A |
C |
9: 15,918,085 (GRCm39) |
L1446R |
probably damaging |
Homo |
| Golga4 |
T |
C |
9: 118,382,525 (GRCm39) |
L515S |
probably damaging |
Het |
| Hoxb1 |
A |
T |
11: 96,256,728 (GRCm39) |
T26S |
probably benign |
Het |
| Igsf10 |
T |
G |
3: 59,238,481 (GRCm39) |
T567P |
probably damaging |
Het |
| Lamb2 |
T |
C |
9: 108,359,755 (GRCm39) |
V365A |
probably benign |
Het |
| Mepe |
A |
G |
5: 104,485,242 (GRCm39) |
I127M |
possibly damaging |
Het |
| Mpi |
A |
T |
9: 57,453,832 (GRCm39) |
M230K |
probably benign |
Homo |
| Myh4 |
A |
G |
11: 67,146,283 (GRCm39) |
D1447G |
probably null |
Homo |
| Or1f19 |
A |
G |
16: 3,411,027 (GRCm39) |
I256V |
possibly damaging |
Het |
| Or1j4 |
A |
G |
2: 36,740,819 (GRCm39) |
T254A |
probably benign |
Het |
| Panx2 |
T |
C |
15: 88,952,213 (GRCm39) |
Y227H |
probably damaging |
Homo |
| Pdzd7 |
A |
G |
19: 45,025,173 (GRCm39) |
W441R |
probably damaging |
Het |
| Poldip2 |
A |
G |
11: 78,410,020 (GRCm39) |
I267M |
probably damaging |
Homo |
| Pros1 |
T |
A |
16: 62,745,002 (GRCm39) |
V539E |
probably damaging |
Het |
| Sacs |
T |
C |
14: 61,450,425 (GRCm39) |
M4157T |
probably benign |
Het |
| Slc9a1 |
A |
G |
4: 133,149,457 (GRCm39) |
E761G |
probably benign |
Homo |
| Stab2 |
G |
A |
10: 86,691,035 (GRCm39) |
P2178L |
probably damaging |
Het |
| Syt4 |
C |
T |
18: 31,577,274 (GRCm39) |
V27I |
possibly damaging |
Homo |
| Thumpd1 |
T |
A |
7: 119,319,799 (GRCm39) |
K56* |
probably null |
Het |
| Tpr |
A |
G |
1: 150,269,313 (GRCm39) |
K19E |
possibly damaging |
Homo |
| Ttll10 |
A |
G |
4: 156,132,775 (GRCm39) |
I74T |
probably benign |
Het |
| Txnrd1 |
C |
T |
10: 82,702,823 (GRCm39) |
Q95* |
probably null |
Homo |
| Zc3h7b |
A |
G |
15: 81,662,872 (GRCm39) |
E421G |
possibly damaging |
Homo |
| Zc3hc1 |
G |
T |
6: 30,387,525 (GRCm39) |
D51E |
probably benign |
Homo |
|
| Other mutations in Slc45a3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00962:Slc45a3
|
APN |
1 |
131,905,265 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01626:Slc45a3
|
APN |
1 |
131,906,725 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL01677:Slc45a3
|
APN |
1 |
131,906,708 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0122:Slc45a3
|
UTSW |
1 |
131,905,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0402:Slc45a3
|
UTSW |
1 |
131,905,265 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1596:Slc45a3
|
UTSW |
1 |
131,909,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1647:Slc45a3
|
UTSW |
1 |
131,905,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1752:Slc45a3
|
UTSW |
1 |
131,905,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1771:Slc45a3
|
UTSW |
1 |
131,904,694 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R1776:Slc45a3
|
UTSW |
1 |
131,904,694 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R2071:Slc45a3
|
UTSW |
1 |
131,905,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2939:Slc45a3
|
UTSW |
1 |
131,905,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4230:Slc45a3
|
UTSW |
1 |
131,909,399 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4876:Slc45a3
|
UTSW |
1 |
131,909,285 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4906:Slc45a3
|
UTSW |
1 |
131,909,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5265:Slc45a3
|
UTSW |
1 |
131,905,932 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5964:Slc45a3
|
UTSW |
1 |
131,905,811 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6849:Slc45a3
|
UTSW |
1 |
131,905,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7483:Slc45a3
|
UTSW |
1 |
131,904,549 (GRCm39) |
start gained |
probably benign |
|
|
R8104:Slc45a3
|
UTSW |
1 |
131,904,754 (GRCm39) |
missense |
probably benign |
0.29 |
|
R8322:Slc45a3
|
UTSW |
1 |
131,905,523 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8333:Slc45a3
|
UTSW |
1 |
131,905,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9011:Slc45a3
|
UTSW |
1 |
131,905,714 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9035:Slc45a3
|
UTSW |
1 |
131,909,187 (GRCm39) |
frame shift |
probably null |
|
|
R9101:Slc45a3
|
UTSW |
1 |
131,905,175 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
| Nature of Mutation |
 DNA sequencing using the SOLiD technique identified an A to G transition at position 1713 of the Slc45a3 transcript in exon 6 of 6 total exons. Two transcripts of the Slc45a3 gene are displayed on Ensembl. The mutated nucleotide causes a glutamic acid to glycine substitution at amino acid 424 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
|
| Protein Function and Prediction |
The Slc45a3 gene encodes a 553 amino acid eleven-pass transmembrane protein that is a member of the glycoside-pentoside-hexuronide (GPH) cation symporter transporter (TC 2.A.2) family. This transporter is expressed in the epididymis (Uniprot Q8K0H7).
The E424G change is located between transmembrane domains 10 and 11, and is predicted to be benign by the PolyPhen program. |
| Posted On |
2010-05-04 |
Incidental Mutation