Incidental Mutation 'R5164:Slc47a1'
ID |
395601 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc47a1
|
Ensembl Gene |
ENSMUSG00000010122 |
Gene Name |
solute carrier family 47, member 1 |
Synonyms |
MATE1, mMATE1, 1300013J15Rik |
MMRRC Submission |
042745-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5164 (G1)
|
Quality Score |
164 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
61234227-61269171 bp(-) (GRCm39) |
Type of Mutation |
splice site (6 bp from exon) |
DNA Base Change (assembly) |
A to G
at 61243886 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000010267
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010267]
[ENSMUST00000131723]
|
AlphaFold |
Q8K0H1 |
Predicted Effect |
probably null
Transcript: ENSMUST00000010267
|
SMART Domains |
Protein: ENSMUSP00000010267 Gene: ENSMUSG00000010122
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 |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
98% (49/50) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
A |
T |
13: 81,583,793 (GRCm39) |
H4637Q |
probably benign |
Het |
Akap6 |
A |
G |
12: 53,189,249 (GRCm39) |
H2221R |
probably benign |
Het |
Arsj |
A |
T |
3: 126,231,808 (GRCm39) |
M185L |
probably benign |
Het |
Ccdc177 |
T |
C |
12: 80,805,336 (GRCm39) |
T313A |
unknown |
Het |
Cdkal1 |
A |
T |
13: 29,809,702 (GRCm39) |
L214H |
probably damaging |
Het |
Cfap44 |
T |
A |
16: 44,301,752 (GRCm39) |
I1830N |
probably damaging |
Het |
Cfap65 |
T |
C |
1: 74,965,675 (GRCm39) |
K445R |
probably damaging |
Het |
Chrnb3 |
T |
A |
8: 27,884,160 (GRCm39) |
I299N |
probably damaging |
Het |
Cse1l |
C |
A |
2: 166,786,348 (GRCm39) |
D826E |
probably benign |
Het |
Cwf19l2 |
T |
C |
9: 3,475,511 (GRCm39) |
V816A |
probably damaging |
Het |
Dnah5 |
A |
T |
15: 28,408,438 (GRCm39) |
E3474D |
probably benign |
Het |
Dock5 |
A |
T |
14: 68,055,110 (GRCm39) |
Y585* |
probably null |
Het |
Ebf2 |
T |
C |
14: 67,627,970 (GRCm39) |
S322P |
possibly damaging |
Het |
Epha8 |
T |
C |
4: 136,672,983 (GRCm39) |
E267G |
possibly damaging |
Het |
Fkbp5 |
A |
G |
17: 28,656,964 (GRCm39) |
|
probably null |
Het |
Gbp4 |
T |
A |
5: 105,284,743 (GRCm39) |
K49* |
probably null |
Het |
Gramd4 |
A |
T |
15: 85,985,032 (GRCm39) |
T98S |
probably benign |
Het |
Hectd1 |
C |
A |
12: 51,874,272 (GRCm39) |
M1I |
probably null |
Het |
Hsd17b8 |
A |
G |
17: 34,245,952 (GRCm39) |
|
probably benign |
Het |
Hycc2 |
T |
C |
1: 58,574,597 (GRCm39) |
T315A |
probably benign |
Het |
Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
Keg1 |
A |
G |
19: 12,692,044 (GRCm39) |
|
probably benign |
Het |
Lilra6 |
A |
T |
7: 3,917,880 (GRCm39) |
V88E |
probably damaging |
Het |
Mast1 |
A |
G |
8: 85,640,147 (GRCm39) |
|
probably benign |
Het |
Mdn1 |
A |
G |
4: 32,759,011 (GRCm39) |
|
probably null |
Het |
Nrdc |
C |
T |
4: 108,896,914 (GRCm39) |
T511I |
probably damaging |
Het |
Odad4 |
G |
A |
11: 100,462,346 (GRCm39) |
W506* |
probably null |
Het |
Or4c106 |
T |
A |
2: 88,682,914 (GRCm39) |
L207I |
probably benign |
Het |
Or5p6 |
G |
A |
7: 107,631,487 (GRCm39) |
T21I |
possibly damaging |
Het |
Or8k24 |
T |
C |
2: 86,215,815 (GRCm39) |
T316A |
probably benign |
Het |
Pms1 |
A |
G |
1: 53,246,799 (GRCm39) |
V301A |
probably damaging |
Het |
Pnisr |
A |
T |
4: 21,859,237 (GRCm39) |
Q144L |
possibly damaging |
Het |
Pp2d1 |
G |
T |
17: 53,815,098 (GRCm39) |
T542K |
probably benign |
Het |
Ppargc1b |
A |
T |
18: 61,435,715 (GRCm39) |
C922S |
probably damaging |
Het |
Ptprd |
T |
C |
4: 76,018,995 (GRCm39) |
|
probably null |
Het |
Runx3 |
T |
C |
4: 134,848,441 (GRCm39) |
S9P |
possibly damaging |
Het |
Serpina1b |
A |
G |
12: 103,698,346 (GRCm39) |
S168P |
probably benign |
Het |
Slc14a2 |
G |
A |
18: 78,200,487 (GRCm39) |
A722V |
probably damaging |
Het |
Slc23a2 |
T |
A |
2: 131,917,370 (GRCm39) |
|
probably benign |
Het |
Tcf20 |
A |
G |
15: 82,740,804 (GRCm39) |
S216P |
probably damaging |
Het |
Tpst1 |
T |
A |
5: 130,130,842 (GRCm39) |
I104N |
probably damaging |
Het |
Ufm1 |
A |
C |
3: 53,765,348 (GRCm39) |
|
probably benign |
Het |
Unkl |
A |
G |
17: 25,432,083 (GRCm39) |
|
probably null |
Het |
Usf3 |
T |
C |
16: 44,038,543 (GRCm39) |
S1008P |
probably damaging |
Het |
Ythdf3 |
T |
C |
3: 16,237,677 (GRCm39) |
V6A |
possibly damaging |
Het |
Zc3h3 |
A |
T |
15: 75,648,875 (GRCm39) |
S752R |
probably benign |
Het |
Zfp268 |
T |
C |
4: 145,348,775 (GRCm39) |
Y71H |
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 |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGTGGTCCTCAGATTTGAACAAG -3'
(R):5'- GGGATTCATGCCCTCTGATTC -3'
Sequencing Primer
(F):5'- GGTCCTCAGATTTGAACAAGACTCTG -3'
(R):5'- AAGTCCCTGGCAGTTTAAGC -3'
|
Posted On |
2016-06-21 |