Incidental Mutation 'IGL02586:Slc47a1'
ID |
299530 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Slc47a1
|
Ensembl Gene |
ENSMUSG00000010122 |
Gene Name |
solute carrier family 47, member 1 |
Synonyms |
MATE1, mMATE1, 1300013J15Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02586
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
61234227-61269171 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 61235147 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 562
(V562D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000010267
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010267]
[ENSMUST00000093029]
[ENSMUST00000131723]
[ENSMUST00000134423]
|
AlphaFold |
Q8K0H1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000010267
AA Change: V562D
PolyPhen 2
Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000010267 Gene: ENSMUSG00000010122 AA Change: V562D
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
19 |
N/A |
INTRINSIC |
Pfam:MatE
|
44 |
204 |
4.8e-34 |
PFAM |
low complexity region
|
225 |
236 |
N/A |
INTRINSIC |
Pfam:MatE
|
265 |
426 |
1.6e-32 |
PFAM |
low complexity region
|
442 |
452 |
N/A |
INTRINSIC |
transmembrane domain
|
545 |
564 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000093029
|
SMART Domains |
Protein: ENSMUSP00000090710 Gene: ENSMUSG00000069855
Domain | Start | End | E-Value | Type |
low complexity region
|
22 |
34 |
N/A |
INTRINSIC |
Pfam:MatE
|
53 |
213 |
1.7e-35 |
PFAM |
transmembrane domain
|
227 |
246 |
N/A |
INTRINSIC |
Pfam:MatE
|
274 |
435 |
4e-34 |
PFAM |
transmembrane domain
|
444 |
466 |
N/A |
INTRINSIC |
transmembrane domain
|
545 |
567 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000131723
|
SMART Domains |
Protein: ENSMUSP00000115132 Gene: ENSMUSG00000010122
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
19 |
N/A |
INTRINSIC |
Pfam:MatE
|
44 |
180 |
2.7e-29 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134423
|
SMART Domains |
Protein: ENSMUSP00000120907 Gene: ENSMUSG00000069855
Domain | Start | End | E-Value | Type |
low complexity region
|
22 |
34 |
N/A |
INTRINSIC |
Pfam:MatE
|
53 |
213 |
3.5e-32 |
PFAM |
transmembrane domain
|
227 |
246 |
N/A |
INTRINSIC |
Pfam:MatE
|
274 |
435 |
1.7e-36 |
PFAM |
transmembrane domain
|
444 |
466 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147450
|
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 is located within the Smith-Magenis syndrome region on chromosome 17. It encodes a protein of unknown function. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased blood urea nitrogen, increased circulating creatinine, and abnormal metformin pahrmacokinetics including increased plasma and tissue concentration with decreased kidney and liver clearance. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
G |
11: 9,243,983 (GRCm39) |
I1949V |
possibly damaging |
Het |
Anapc2 |
T |
A |
2: 25,175,108 (GRCm39) |
M742K |
probably benign |
Het |
Arhgef12 |
T |
A |
9: 42,917,200 (GRCm39) |
K380* |
probably null |
Het |
Armc1 |
G |
T |
3: 19,188,192 (GRCm39) |
|
probably benign |
Het |
Bltp1 |
G |
A |
3: 37,098,757 (GRCm39) |
W4626* |
probably null |
Het |
Diaph3 |
A |
T |
14: 87,223,512 (GRCm39) |
L323* |
probably null |
Het |
Fbxo11 |
C |
T |
17: 88,318,711 (GRCm39) |
|
probably benign |
Het |
Flywch1 |
C |
T |
17: 23,974,676 (GRCm39) |
A655T |
probably benign |
Het |
Frmpd1 |
A |
G |
4: 45,285,160 (GRCm39) |
D1327G |
probably damaging |
Het |
Ggact |
G |
A |
14: 123,128,942 (GRCm39) |
T91I |
possibly damaging |
Het |
Gm10250 |
T |
A |
15: 5,150,412 (GRCm39) |
|
probably benign |
Het |
Gsdmc4 |
T |
C |
15: 63,765,641 (GRCm39) |
S303G |
probably damaging |
Het |
Helt |
T |
C |
8: 46,746,276 (GRCm39) |
E15G |
probably damaging |
Het |
Kcnf1 |
T |
A |
12: 17,226,144 (GRCm39) |
S26C |
probably benign |
Het |
Lilra6 |
T |
C |
7: 3,911,819 (GRCm39) |
T280A |
probably benign |
Het |
Lipo3 |
A |
T |
19: 33,559,539 (GRCm39) |
D110E |
possibly damaging |
Het |
Mepe |
C |
A |
5: 104,485,316 (GRCm39) |
T152N |
probably benign |
Het |
Nr2f1 |
C |
A |
13: 78,343,275 (GRCm39) |
|
probably benign |
Het |
Or5ak24 |
T |
C |
2: 85,260,810 (GRCm39) |
D121G |
possibly damaging |
Het |
Or6c214 |
A |
G |
10: 129,590,524 (GRCm39) |
I265T |
possibly damaging |
Het |
Peg3 |
T |
C |
7: 6,713,068 (GRCm39) |
D718G |
probably benign |
Het |
Phf2 |
A |
T |
13: 48,967,334 (GRCm39) |
|
probably benign |
Het |
Pigc |
A |
T |
1: 161,798,503 (GRCm39) |
I162F |
probably benign |
Het |
Raf1 |
A |
G |
6: 115,597,267 (GRCm39) |
L11P |
probably damaging |
Het |
Rlf |
T |
C |
4: 121,007,261 (GRCm39) |
Y573C |
probably damaging |
Het |
Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
Rnf149 |
T |
G |
1: 39,604,296 (GRCm39) |
Q189P |
probably benign |
Het |
Slc11a1 |
T |
C |
1: 74,424,291 (GRCm39) |
|
probably benign |
Het |
Slc22a12 |
C |
T |
19: 6,590,487 (GRCm39) |
M234I |
probably benign |
Het |
Slc28a1 |
A |
T |
7: 80,814,167 (GRCm39) |
I455F |
probably benign |
Het |
Slc35f5 |
T |
G |
1: 125,512,273 (GRCm39) |
L358V |
probably damaging |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Ushbp1 |
T |
C |
8: 71,841,394 (GRCm39) |
|
probably benign |
Het |
Vmn1r88 |
T |
A |
7: 12,911,735 (GRCm39) |
Y30* |
probably null |
Het |
Vmn2r27 |
A |
T |
6: 124,201,434 (GRCm39) |
Y174* |
probably null |
Het |
Wwox |
T |
C |
8: 115,438,947 (GRCm39) |
Y338H |
possibly damaging |
Het |
Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
Het |
Zup1 |
A |
T |
10: 33,811,261 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Slc47a1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02333:Slc47a1
|
APN |
11 |
61,260,950 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02399:Slc47a1
|
APN |
11 |
61,253,884 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02832:Slc47a1
|
APN |
11 |
61,254,239 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02873:Slc47a1
|
APN |
11 |
61,253,643 (GRCm39) |
unclassified |
probably benign |
|
IGL03038:Slc47a1
|
APN |
11 |
61,243,918 (GRCm39) |
missense |
probably benign |
0.14 |
R0392:Slc47a1
|
UTSW |
11 |
61,262,608 (GRCm39) |
missense |
probably damaging |
1.00 |
R0927:Slc47a1
|
UTSW |
11 |
61,264,248 (GRCm39) |
missense |
probably damaging |
0.96 |
R1255:Slc47a1
|
UTSW |
11 |
61,260,974 (GRCm39) |
missense |
probably damaging |
1.00 |
R1507:Slc47a1
|
UTSW |
11 |
61,250,344 (GRCm39) |
critical splice donor site |
probably null |
|
R1625:Slc47a1
|
UTSW |
11 |
61,262,625 (GRCm39) |
missense |
probably damaging |
1.00 |
R2029:Slc47a1
|
UTSW |
11 |
61,268,833 (GRCm39) |
intron |
probably benign |
|
R2137:Slc47a1
|
UTSW |
11 |
61,235,318 (GRCm39) |
missense |
probably benign |
0.21 |
R2434:Slc47a1
|
UTSW |
11 |
61,258,548 (GRCm39) |
splice site |
probably null |
|
R3115:Slc47a1
|
UTSW |
11 |
61,258,506 (GRCm39) |
missense |
possibly damaging |
0.88 |
R3752:Slc47a1
|
UTSW |
11 |
61,235,207 (GRCm39) |
missense |
possibly damaging |
0.84 |
R3839:Slc47a1
|
UTSW |
11 |
61,243,884 (GRCm39) |
splice site |
probably benign |
|
R4499:Slc47a1
|
UTSW |
11 |
61,250,355 (GRCm39) |
missense |
probably benign |
|
R4516:Slc47a1
|
UTSW |
11 |
61,235,339 (GRCm39) |
missense |
probably benign |
|
R4675:Slc47a1
|
UTSW |
11 |
61,253,857 (GRCm39) |
missense |
probably benign |
0.41 |
R4727:Slc47a1
|
UTSW |
11 |
61,254,277 (GRCm39) |
missense |
possibly damaging |
0.48 |
R4839:Slc47a1
|
UTSW |
11 |
61,264,176 (GRCm39) |
splice site |
probably null |
|
R4869:Slc47a1
|
UTSW |
11 |
61,253,520 (GRCm39) |
missense |
probably benign |
0.02 |
R5164:Slc47a1
|
UTSW |
11 |
61,243,886 (GRCm39) |
splice site |
probably null |
|
R5633:Slc47a1
|
UTSW |
11 |
61,260,087 (GRCm39) |
missense |
probably damaging |
1.00 |
R5957:Slc47a1
|
UTSW |
11 |
61,235,168 (GRCm39) |
missense |
probably benign |
0.06 |
R6793:Slc47a1
|
UTSW |
11 |
61,250,229 (GRCm39) |
missense |
probably benign |
|
R6952:Slc47a1
|
UTSW |
11 |
61,235,280 (GRCm39) |
missense |
probably benign |
0.04 |
R7082:Slc47a1
|
UTSW |
11 |
61,268,767 (GRCm39) |
missense |
probably benign |
0.04 |
R7923:Slc47a1
|
UTSW |
11 |
61,254,229 (GRCm39) |
missense |
probably damaging |
1.00 |
R8818:Slc47a1
|
UTSW |
11 |
61,261,055 (GRCm39) |
missense |
probably benign |
0.17 |
R9050:Slc47a1
|
UTSW |
11 |
61,235,160 (GRCm39) |
missense |
probably benign |
0.03 |
R9062:Slc47a1
|
UTSW |
11 |
61,253,924 (GRCm39) |
missense |
probably benign |
0.00 |
R9080:Slc47a1
|
UTSW |
11 |
61,264,219 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9215:Slc47a1
|
UTSW |
11 |
61,262,647 (GRCm39) |
missense |
probably benign |
0.00 |
R9239:Slc47a1
|
UTSW |
11 |
61,250,344 (GRCm39) |
critical splice donor site |
probably null |
|
R9802:Slc47a1
|
UTSW |
11 |
61,240,342 (GRCm39) |
missense |
probably benign |
0.01 |
|
Posted On |
2015-04-16 |