Incidental Mutation 'IGL02399:Slc47a1'
| ID |
291801 |
| 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 # |
IGL02399
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
61234227-61269171 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 61253884 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 185
(I185N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118265
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010267]
[ENSMUST00000131723]
[ENSMUST00000148671]
|
| AlphaFold |
Q8K0H1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000010267
AA Change: I235N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000010267
Gene: ENSMUSG00000010122
AA Change: I235N
| 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 damaging
Transcript: ENSMUST00000148671
AA Change: I185N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000118265
Gene: ENSMUSG00000010122
AA Change: I185N
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd12 |
C |
T |
2: 150,700,413 (GRCm39) |
|
probably benign |
Het |
| Adarb1 |
G |
A |
10: 77,131,588 (GRCm39) |
P624S |
probably benign |
Het |
| Afg3l2 |
A |
T |
18: 67,562,110 (GRCm39) |
F322I |
possibly damaging |
Het |
| Arhgap23 |
A |
G |
11: 97,381,831 (GRCm39) |
|
probably benign |
Het |
| Atp13a1 |
A |
G |
8: 70,259,751 (GRCm39) |
N1114S |
probably damaging |
Het |
| C3ar1 |
T |
C |
6: 122,826,838 (GRCm39) |
N460D |
probably benign |
Het |
| Cacna1e |
A |
G |
1: 154,279,493 (GRCm39) |
Y1988H |
probably damaging |
Het |
| Calr |
T |
C |
8: 85,569,415 (GRCm39) |
|
probably benign |
Het |
| D5Ertd579e |
A |
G |
5: 36,773,529 (GRCm39) |
S289P |
probably damaging |
Het |
| Erbb4 |
G |
A |
1: 68,081,596 (GRCm39) |
|
probably benign |
Het |
| Fam98a |
A |
G |
17: 75,845,936 (GRCm39) |
|
probably benign |
Het |
| Gm3739 |
A |
T |
14: 18,505,274 (GRCm39) |
D83E |
possibly damaging |
Het |
| Gm5420 |
A |
T |
10: 21,567,071 (GRCm39) |
|
noncoding transcript |
Het |
| Heatr5b |
A |
G |
17: 79,135,396 (GRCm39) |
V245A |
probably damaging |
Het |
| Kptn |
C |
A |
7: 15,861,038 (GRCm39) |
|
probably benign |
Het |
| Llgl2 |
T |
C |
11: 115,735,661 (GRCm39) |
C86R |
probably damaging |
Het |
| Lrr1 |
T |
A |
12: 69,215,665 (GRCm39) |
C12* |
probably null |
Het |
| Mcf2 |
T |
C |
X: 59,180,812 (GRCm39) |
D255G |
probably damaging |
Het |
| Med13 |
A |
T |
11: 86,174,771 (GRCm39) |
|
probably benign |
Het |
| Mthfd1 |
C |
T |
12: 76,364,406 (GRCm39) |
T735M |
probably damaging |
Het |
| Nlrp2 |
C |
T |
7: 5,331,809 (GRCm39) |
A196T |
probably damaging |
Het |
| Nnmt |
T |
C |
9: 48,514,838 (GRCm39) |
I60V |
probably damaging |
Het |
| Odad2 |
G |
T |
18: 7,285,719 (GRCm39) |
Q215K |
probably benign |
Het |
| Or4c110 |
T |
A |
2: 88,832,507 (GRCm39) |
T42S |
probably benign |
Het |
| Or6ae1 |
A |
T |
7: 139,742,513 (GRCm39) |
S117T |
probably benign |
Het |
| P2rx3 |
T |
C |
2: 84,853,571 (GRCm39) |
I140V |
probably benign |
Het |
| Patj |
A |
G |
4: 98,480,173 (GRCm39) |
N1293D |
probably damaging |
Het |
| Pitpnm2 |
G |
A |
5: 124,278,821 (GRCm39) |
|
probably benign |
Het |
| Ppp1r26 |
T |
G |
2: 28,343,292 (GRCm39) |
V974G |
probably benign |
Het |
| Prrc2b |
T |
A |
2: 32,116,973 (GRCm39) |
L1376* |
probably null |
Het |
| Rab33a |
T |
A |
X: 47,608,584 (GRCm39) |
I36N |
probably damaging |
Het |
| Rab3gap1 |
A |
T |
1: 127,855,840 (GRCm39) |
N493I |
possibly damaging |
Het |
| Scara3 |
C |
A |
14: 66,170,559 (GRCm39) |
G107* |
probably null |
Het |
| Siglec1 |
T |
C |
2: 130,913,098 (GRCm39) |
E1606G |
probably benign |
Het |
| Skint9 |
A |
T |
4: 112,246,447 (GRCm39) |
Y222N |
possibly damaging |
Het |
| Slc47a2 |
C |
A |
11: 61,193,020 (GRCm39) |
|
probably benign |
Het |
| Slc4a2 |
A |
G |
5: 24,639,711 (GRCm39) |
I506V |
probably damaging |
Het |
| Slc9a4 |
A |
C |
1: 40,639,942 (GRCm39) |
I245L |
probably benign |
Het |
| Smarcb1 |
T |
C |
10: 75,733,328 (GRCm39) |
T357A |
probably damaging |
Het |
| Spata31d1d |
A |
G |
13: 59,877,954 (GRCm39) |
|
probably benign |
Het |
| Stox2 |
T |
A |
8: 47,639,573 (GRCm39) |
I874F |
probably damaging |
Het |
| Taar7b |
A |
T |
10: 23,876,050 (GRCm39) |
I72F |
probably damaging |
Het |
| Tacc2 |
G |
A |
7: 130,225,129 (GRCm39) |
V605I |
probably benign |
Het |
| Tef |
T |
C |
15: 81,699,301 (GRCm39) |
L34P |
probably damaging |
Het |
| Trak2 |
A |
G |
1: 58,949,204 (GRCm39) |
V532A |
probably benign |
Het |
| Usp13 |
T |
A |
3: 32,973,209 (GRCm39) |
D795E |
probably damaging |
Het |
| Vmn1r32 |
T |
A |
6: 66,529,913 (GRCm39) |
I288F |
probably benign |
Het |
| Vmn1r75 |
T |
C |
7: 11,615,093 (GRCm39) |
I275T |
possibly damaging |
Het |
| Zfp871 |
A |
T |
17: 32,993,329 (GRCm39) |
F615L |
probably benign |
Het |
| Zfp941 |
G |
A |
7: 140,392,612 (GRCm39) |
T249M |
probably benign |
Het |
| Zhx1 |
T |
C |
15: 57,917,137 (GRCm39) |
I370V |
probably damaging |
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 |
|
IGL02586:Slc47a1
|
APN |
11 |
61,235,147 (GRCm39) |
missense |
probably benign |
0.14 |
|
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 |
Incidental Mutation