Incidental Mutation 'IGL02009:Slc45a1'
ID |
182293 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Slc45a1
|
Ensembl Gene |
ENSMUSG00000039838 |
Gene Name |
solute carrier family 45, member 1 |
Synonyms |
Dnb5 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.130)
|
Stock # |
IGL02009
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
150713052-150736631 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 150722447 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 479
(V479E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112737
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037827]
[ENSMUST00000117997]
|
AlphaFold |
Q8BIV7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000037827
AA Change: V479E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000036774 Gene: ENSMUSG00000039838 AA Change: V479E
Domain | Start | End | E-Value | Type |
low complexity region
|
58 |
69 |
N/A |
INTRINSIC |
Pfam:MFS_2
|
86 |
310 |
7.3e-11 |
PFAM |
Pfam:MFS_1
|
92 |
356 |
1.4e-12 |
PFAM |
transmembrane domain
|
529 |
551 |
N/A |
INTRINSIC |
transmembrane domain
|
575 |
597 |
N/A |
INTRINSIC |
transmembrane domain
|
604 |
626 |
N/A |
INTRINSIC |
transmembrane domain
|
631 |
653 |
N/A |
INTRINSIC |
transmembrane domain
|
680 |
702 |
N/A |
INTRINSIC |
transmembrane domain
|
712 |
734 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000117997
AA Change: V479E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000112737 Gene: ENSMUSG00000039838 AA Change: V479E
Domain | Start | End | E-Value | Type |
low complexity region
|
58 |
69 |
N/A |
INTRINSIC |
Pfam:MFS_2
|
87 |
307 |
1.6e-12 |
PFAM |
Pfam:MFS_1
|
92 |
362 |
2.4e-12 |
PFAM |
transmembrane domain
|
529 |
551 |
N/A |
INTRINSIC |
transmembrane domain
|
575 |
597 |
N/A |
INTRINSIC |
transmembrane domain
|
604 |
626 |
N/A |
INTRINSIC |
transmembrane domain
|
631 |
653 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was isolated initially from a region on chromosome 1p that is frequently deleted in human neuroblastoma, although no causal relationship has since been demonstrated. The encoded protein belongs to the glycoside-pentoside-hexuronide cation symporter transporter family and may play a role in glucose uptake. [provided by RefSeq, Mar 2014]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh1a3 |
T |
C |
7: 66,051,789 (GRCm39) |
D388G |
probably benign |
Het |
Ankhd1 |
C |
A |
18: 36,757,714 (GRCm39) |
Q803K |
probably damaging |
Het |
Arrdc3 |
A |
G |
13: 81,041,499 (GRCm39) |
N180S |
probably benign |
Het |
Atp11b |
G |
A |
3: 35,868,301 (GRCm39) |
E458K |
probably benign |
Het |
Bend6 |
G |
A |
1: 33,901,827 (GRCm39) |
A185V |
probably benign |
Het |
Ccdc121 |
C |
T |
5: 31,644,835 (GRCm39) |
T196I |
probably benign |
Het |
Chd5 |
A |
G |
4: 152,450,670 (GRCm39) |
D632G |
probably damaging |
Het |
Clec4a1 |
A |
T |
6: 122,909,175 (GRCm39) |
H181L |
probably benign |
Het |
Cntnap5a |
T |
A |
1: 116,085,224 (GRCm39) |
D387E |
probably benign |
Het |
Colq |
G |
A |
14: 31,257,599 (GRCm39) |
S256F |
possibly damaging |
Het |
Cracd |
A |
G |
5: 76,996,817 (GRCm39) |
T92A |
possibly damaging |
Het |
Ctdp1 |
A |
G |
18: 80,499,187 (GRCm39) |
Y252H |
probably damaging |
Het |
Cyp4f17 |
T |
A |
17: 32,743,854 (GRCm39) |
L344Q |
probably damaging |
Het |
Fam83b |
A |
G |
9: 76,399,604 (GRCm39) |
Y500H |
probably damaging |
Het |
Gapvd1 |
G |
A |
2: 34,594,203 (GRCm39) |
P949L |
probably damaging |
Het |
Gp5 |
A |
G |
16: 30,128,482 (GRCm39) |
I64T |
probably benign |
Het |
Il31ra |
A |
G |
13: 112,670,401 (GRCm39) |
V248A |
probably damaging |
Het |
Kdm4a |
C |
T |
4: 118,017,366 (GRCm39) |
A567T |
probably benign |
Het |
Kpna7 |
T |
C |
5: 144,930,888 (GRCm39) |
|
probably null |
Het |
Lrrc8c |
G |
A |
5: 105,755,257 (GRCm39) |
R344H |
probably damaging |
Het |
Man1a |
G |
A |
10: 53,801,621 (GRCm39) |
L413F |
probably damaging |
Het |
Man1a2 |
A |
T |
3: 100,591,978 (GRCm39) |
D67E |
probably damaging |
Het |
Mkln1 |
G |
A |
6: 31,426,455 (GRCm39) |
S243N |
probably benign |
Het |
Mmp19 |
T |
A |
10: 128,634,356 (GRCm39) |
M299K |
probably benign |
Het |
Msantd2 |
T |
C |
9: 37,434,686 (GRCm39) |
F309L |
possibly damaging |
Het |
Mstn |
A |
G |
1: 53,101,309 (GRCm39) |
|
probably benign |
Het |
Nat8f5 |
A |
C |
6: 85,794,408 (GRCm39) |
I184R |
probably benign |
Het |
Or5d43 |
C |
T |
2: 88,105,056 (GRCm39) |
M112I |
probably benign |
Het |
Or9m1b |
G |
T |
2: 87,837,117 (GRCm39) |
Q2K |
probably benign |
Het |
Pigc |
A |
G |
1: 161,798,134 (GRCm39) |
K39E |
possibly damaging |
Het |
Pms2 |
T |
A |
5: 143,862,582 (GRCm39) |
L563Q |
probably benign |
Het |
Rpap1 |
A |
G |
2: 119,610,594 (GRCm39) |
S162P |
possibly damaging |
Het |
Rpl3l |
A |
G |
17: 24,951,407 (GRCm39) |
K103E |
probably damaging |
Het |
Themis2 |
A |
T |
4: 132,512,753 (GRCm39) |
L491Q |
probably damaging |
Het |
Vmn2r17 |
A |
T |
5: 109,600,714 (GRCm39) |
I671L |
possibly damaging |
Het |
Vmn2r6 |
C |
A |
3: 64,445,323 (GRCm39) |
V712L |
possibly damaging |
Het |
Zzz3 |
A |
G |
3: 152,133,752 (GRCm39) |
D270G |
possibly damaging |
Het |
|
Other mutations in Slc45a1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01796:Slc45a1
|
APN |
4 |
150,728,426 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02251:Slc45a1
|
APN |
4 |
150,723,176 (GRCm39) |
splice site |
probably benign |
|
IGL02752:Slc45a1
|
APN |
4 |
150,722,478 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02881:Slc45a1
|
APN |
4 |
150,722,987 (GRCm39) |
missense |
probably benign |
0.36 |
PIT4508001:Slc45a1
|
UTSW |
4 |
150,722,892 (GRCm39) |
missense |
probably benign |
0.00 |
R0017:Slc45a1
|
UTSW |
4 |
150,714,023 (GRCm39) |
missense |
possibly damaging |
0.56 |
R0017:Slc45a1
|
UTSW |
4 |
150,714,023 (GRCm39) |
missense |
possibly damaging |
0.56 |
R0449:Slc45a1
|
UTSW |
4 |
150,727,762 (GRCm39) |
missense |
probably damaging |
1.00 |
R0756:Slc45a1
|
UTSW |
4 |
150,727,054 (GRCm39) |
frame shift |
probably null |
|
R1435:Slc45a1
|
UTSW |
4 |
150,728,505 (GRCm39) |
missense |
probably damaging |
1.00 |
R1837:Slc45a1
|
UTSW |
4 |
150,722,916 (GRCm39) |
missense |
probably benign |
0.00 |
R1943:Slc45a1
|
UTSW |
4 |
150,728,734 (GRCm39) |
missense |
probably benign |
0.02 |
R2186:Slc45a1
|
UTSW |
4 |
150,722,708 (GRCm39) |
missense |
probably benign |
0.01 |
R3766:Slc45a1
|
UTSW |
4 |
150,722,517 (GRCm39) |
missense |
probably damaging |
1.00 |
R4689:Slc45a1
|
UTSW |
4 |
150,722,996 (GRCm39) |
missense |
probably benign |
0.31 |
R4697:Slc45a1
|
UTSW |
4 |
150,722,741 (GRCm39) |
missense |
probably damaging |
1.00 |
R4709:Slc45a1
|
UTSW |
4 |
150,722,697 (GRCm39) |
missense |
probably benign |
0.04 |
R5253:Slc45a1
|
UTSW |
4 |
150,722,727 (GRCm39) |
missense |
probably damaging |
0.98 |
R5387:Slc45a1
|
UTSW |
4 |
150,728,366 (GRCm39) |
intron |
probably benign |
|
R5914:Slc45a1
|
UTSW |
4 |
150,713,997 (GRCm39) |
missense |
possibly damaging |
0.57 |
R6259:Slc45a1
|
UTSW |
4 |
150,722,817 (GRCm39) |
missense |
possibly damaging |
0.63 |
R6290:Slc45a1
|
UTSW |
4 |
150,727,096 (GRCm39) |
missense |
probably damaging |
1.00 |
R6961:Slc45a1
|
UTSW |
4 |
150,714,110 (GRCm39) |
missense |
probably damaging |
0.99 |
R6981:Slc45a1
|
UTSW |
4 |
150,723,051 (GRCm39) |
missense |
possibly damaging |
0.48 |
R7099:Slc45a1
|
UTSW |
4 |
150,714,030 (GRCm39) |
missense |
probably benign |
0.00 |
R7209:Slc45a1
|
UTSW |
4 |
150,719,669 (GRCm39) |
splice site |
probably null |
|
R7601:Slc45a1
|
UTSW |
4 |
150,713,994 (GRCm39) |
missense |
possibly damaging |
0.78 |
R7615:Slc45a1
|
UTSW |
4 |
150,723,002 (GRCm39) |
missense |
probably benign |
0.01 |
R7730:Slc45a1
|
UTSW |
4 |
150,715,397 (GRCm39) |
missense |
probably damaging |
1.00 |
R7750:Slc45a1
|
UTSW |
4 |
150,728,498 (GRCm39) |
missense |
probably damaging |
1.00 |
R8022:Slc45a1
|
UTSW |
4 |
150,722,766 (GRCm39) |
missense |
possibly damaging |
0.71 |
R8768:Slc45a1
|
UTSW |
4 |
150,714,206 (GRCm39) |
missense |
probably damaging |
0.98 |
R9006:Slc45a1
|
UTSW |
4 |
150,722,731 (GRCm39) |
missense |
probably damaging |
1.00 |
R9258:Slc45a1
|
UTSW |
4 |
150,723,071 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9388:Slc45a1
|
UTSW |
4 |
150,727,067 (GRCm39) |
missense |
probably damaging |
1.00 |
R9768:Slc45a1
|
UTSW |
4 |
150,722,982 (GRCm39) |
missense |
probably benign |
|
X0026:Slc45a1
|
UTSW |
4 |
150,728,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2014-05-07 |