Incidental Mutation 'IGL02832:Slc47a1'
| ID |
361502 |
| 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 # |
IGL02832
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
61234227-61269171 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 61254239 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 158
(H158Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118265
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010267]
[ENSMUST00000131723]
[ENSMUST00000148671]
|
| AlphaFold |
Q8K0H1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000010267
AA Change: H208Y
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000010267
Gene: ENSMUSG00000010122
AA Change: H208Y
| 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: 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 |
noncoding transcript
Transcript: ENSMUST00000147583
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148671
AA Change: H158Y
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000118265
Gene: ENSMUSG00000010122
AA Change: H158Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MatE
|
1 |
154 |
4.5e-30 |
PFAM |
|
transmembrane domain
|
164 |
186 |
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 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts9 |
G |
A |
6: 92,784,156 (GRCm39) |
T985M |
probably damaging |
Het |
| Alpk1 |
A |
G |
3: 127,473,592 (GRCm39) |
S804P |
possibly damaging |
Het |
| Ap3b1 |
A |
G |
13: 94,664,835 (GRCm39) |
I925V |
unknown |
Het |
| Cep135 |
T |
A |
5: 76,788,796 (GRCm39) |
S1130T |
probably damaging |
Het |
| Cers3 |
A |
T |
7: 66,431,573 (GRCm39) |
M183L |
probably benign |
Het |
| Col5a1 |
A |
G |
2: 27,842,352 (GRCm39) |
E409G |
unknown |
Het |
| Cyp4a32 |
G |
T |
4: 115,471,818 (GRCm39) |
V410F |
probably damaging |
Het |
| Ddx1 |
G |
A |
12: 13,277,318 (GRCm39) |
Q528* |
probably null |
Het |
| Dio2 |
G |
A |
12: 90,696,178 (GRCm39) |
|
probably benign |
Het |
| Dnah9 |
G |
T |
11: 65,931,172 (GRCm39) |
A2008E |
probably damaging |
Het |
| Dnajc2 |
A |
G |
5: 21,965,408 (GRCm39) |
V457A |
probably benign |
Het |
| Dytn |
T |
C |
1: 63,682,532 (GRCm39) |
T372A |
probably benign |
Het |
| Fam135a |
T |
C |
1: 24,067,714 (GRCm39) |
I152V |
probably benign |
Het |
| Fmnl2 |
C |
T |
2: 52,748,261 (GRCm39) |
A36V |
possibly damaging |
Het |
| Galnt7 |
G |
A |
8: 58,005,531 (GRCm39) |
T234I |
probably damaging |
Het |
| Gba1 |
A |
C |
3: 89,110,809 (GRCm39) |
I6L |
probably benign |
Het |
| Gja10 |
A |
G |
4: 32,602,147 (GRCm39) |
V79A |
probably damaging |
Het |
| Gpd2 |
T |
A |
2: 57,228,991 (GRCm39) |
V265E |
probably damaging |
Het |
| Gpld1 |
T |
C |
13: 25,136,861 (GRCm39) |
Y60H |
probably damaging |
Het |
| H2bc27 |
A |
G |
11: 58,839,869 (GRCm39) |
K35R |
probably benign |
Het |
| Heatr9 |
A |
G |
11: 83,409,672 (GRCm39) |
|
probably benign |
Het |
| Krt75 |
T |
A |
15: 101,476,508 (GRCm39) |
D419V |
probably benign |
Het |
| Lrig3 |
A |
T |
10: 125,842,871 (GRCm39) |
I599F |
probably benign |
Het |
| Lrp4 |
A |
G |
2: 91,341,925 (GRCm39) |
D1846G |
probably damaging |
Het |
| Mamdc2 |
C |
T |
19: 23,281,215 (GRCm39) |
A653T |
probably damaging |
Het |
| Myo7a |
A |
T |
7: 97,740,227 (GRCm39) |
|
probably null |
Het |
| Notch2 |
A |
G |
3: 98,044,689 (GRCm39) |
D1537G |
probably benign |
Het |
| Or10k2 |
G |
A |
8: 84,268,100 (GRCm39) |
C109Y |
probably damaging |
Het |
| Or51a25 |
G |
T |
7: 102,372,858 (GRCm39) |
H280N |
probably benign |
Het |
| Or52ae7 |
A |
T |
7: 103,119,905 (GRCm39) |
I220L |
probably benign |
Het |
| Papss1 |
A |
C |
3: 131,288,280 (GRCm39) |
D84A |
probably damaging |
Het |
| Pcdhb16 |
T |
A |
18: 37,611,527 (GRCm39) |
D162E |
probably damaging |
Het |
| Rab11fip1 |
C |
T |
8: 27,642,840 (GRCm39) |
R653Q |
possibly damaging |
Het |
| Rap1gap2 |
A |
T |
11: 74,303,281 (GRCm39) |
|
probably benign |
Het |
| Rasal2 |
T |
C |
1: 156,984,777 (GRCm39) |
D990G |
probably damaging |
Het |
| Rnf32 |
T |
C |
5: 29,410,701 (GRCm39) |
|
probably null |
Het |
| Rp1 |
T |
C |
1: 4,419,936 (GRCm39) |
D392G |
probably benign |
Het |
| Scn9a |
T |
C |
2: 66,398,373 (GRCm39) |
D79G |
probably damaging |
Het |
| Selenon |
A |
T |
4: 134,268,219 (GRCm39) |
V438D |
probably damaging |
Het |
| Slc5a12 |
A |
T |
2: 110,471,160 (GRCm39) |
E463D |
probably benign |
Het |
| Taf2 |
C |
T |
15: 54,879,959 (GRCm39) |
V1126M |
probably benign |
Het |
| Tas2r143 |
G |
T |
6: 42,377,259 (GRCm39) |
V30L |
possibly damaging |
Het |
| Tcea3 |
G |
A |
4: 135,995,424 (GRCm39) |
V256M |
probably damaging |
Het |
| Thy1 |
A |
G |
9: 43,958,111 (GRCm39) |
T80A |
probably benign |
Het |
| Tmem9 |
A |
G |
1: 135,947,469 (GRCm39) |
N47S |
probably damaging |
Het |
| Tmprss11g |
T |
C |
5: 86,645,128 (GRCm39) |
Q101R |
probably benign |
Het |
| Trim66 |
C |
T |
7: 109,059,704 (GRCm39) |
C792Y |
probably damaging |
Het |
| Tstd2 |
A |
T |
4: 46,124,949 (GRCm39) |
M226K |
probably damaging |
Het |
| Utrn |
G |
T |
10: 12,613,937 (GRCm39) |
T378K |
possibly damaging |
Het |
| Vmn2r23 |
A |
G |
6: 123,681,355 (GRCm39) |
I88V |
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 |
|
IGL02586:Slc47a1
|
APN |
11 |
61,235,147 (GRCm39) |
missense |
probably benign |
0.14 |
|
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 |
2015-12-18 |
Incidental Mutation