Incidental Mutation 'IGL00962:Slc45a3'
ID |
26726 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL00962
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
131890705-131910707 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 131905265 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 96
(V96D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136190
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027695]
[ENSMUST00000177943]
[ENSMUST00000190322]
|
AlphaFold |
Q8K0H7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027695
AA Change: V96D
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000027695 Gene: ENSMUSG00000026435 AA Change: V96D
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 damaging
Transcript: ENSMUST00000177943
AA Change: V96D
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000136190 Gene: ENSMUSG00000026435 AA Change: V96D
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 |
possibly damaging
Transcript: ENSMUST00000190322
AA Change: V82D
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000140767 Gene: ENSMUSG00000026435 AA Change: V82D
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
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afg3l2 |
C |
T |
18: 67,564,723 (GRCm39) |
|
probably null |
Het |
Atp8b1 |
C |
T |
18: 64,664,515 (GRCm39) |
A1218T |
probably damaging |
Het |
AY761185 |
T |
C |
8: 21,434,611 (GRCm39) |
D39G |
possibly damaging |
Het |
Fam167a |
G |
A |
14: 63,699,904 (GRCm39) |
E155K |
probably damaging |
Het |
Fat3 |
C |
T |
9: 15,826,815 (GRCm39) |
G4379D |
probably benign |
Het |
Fkbp10 |
A |
G |
11: 100,312,643 (GRCm39) |
T300A |
probably benign |
Het |
Gm6665 |
T |
C |
18: 31,953,204 (GRCm39) |
K57R |
probably benign |
Het |
Gnb4 |
T |
C |
3: 32,647,318 (GRCm39) |
T86A |
probably benign |
Het |
H2-Q2 |
A |
G |
17: 35,561,825 (GRCm39) |
Y105C |
probably damaging |
Het |
Ighv1-75 |
A |
G |
12: 115,797,883 (GRCm39) |
|
probably benign |
Het |
Ilvbl |
A |
G |
10: 78,419,172 (GRCm39) |
T474A |
possibly damaging |
Het |
Shld2 |
A |
T |
14: 33,971,208 (GRCm39) |
V559E |
probably damaging |
Het |
Tmtc3 |
C |
T |
10: 100,307,815 (GRCm39) |
G201R |
probably damaging |
Het |
Tnfsf14 |
G |
A |
17: 57,499,906 (GRCm39) |
Q83* |
probably null |
Het |
Trpm2 |
A |
G |
10: 77,779,750 (GRCm39) |
|
probably benign |
Het |
Ubr5 |
A |
T |
15: 37,986,178 (GRCm39) |
F2219I |
probably damaging |
Het |
Utrn |
C |
T |
10: 12,357,078 (GRCm39) |
V2747I |
possibly damaging |
Het |
Vcan |
T |
C |
13: 89,810,171 (GRCm39) |
N3207D |
probably damaging |
Het |
Vmn1r35 |
A |
G |
6: 66,656,361 (GRCm39) |
V103A |
possibly damaging |
Het |
Vmn2r97 |
A |
G |
17: 19,149,490 (GRCm39) |
T293A |
probably damaging |
Het |
Wdr35 |
A |
G |
12: 9,071,726 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Slc45a3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
F6893:Slc45a3
|
UTSW |
1 |
131,909,075 (GRCm39) |
missense |
probably benign |
|
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 |
|
Posted On |
2013-04-17 |