Incidental Mutation 'R9802:Slc47a1'
ID |
735276 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc47a1
|
Ensembl Gene |
ENSMUSG00000010122 |
Gene Name |
solute carrier family 47, member 1 |
Synonyms |
MATE1, mMATE1, 1300013J15Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9802 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
61234227-61269171 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 61240342 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 445
(C445S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000010267
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010267]
[ENSMUST00000131723]
|
AlphaFold |
Q8K0H1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000010267
AA Change: C445S
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000010267 Gene: ENSMUSG00000010122 AA Change: C445S
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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.4%
|
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 |
Abcc8 |
T |
C |
7: 45,786,054 (GRCm39) |
D673G |
probably benign |
Het |
Akr1b1 |
T |
C |
6: 34,283,508 (GRCm39) |
Y292C |
probably benign |
Het |
Alg8 |
T |
A |
7: 97,027,486 (GRCm39) |
V118E |
possibly damaging |
Het |
Alms1 |
T |
A |
6: 85,606,220 (GRCm39) |
D2154E |
possibly damaging |
Het |
Anln |
T |
C |
9: 22,245,453 (GRCm39) |
I1029M |
probably damaging |
Het |
Bltp3b |
G |
A |
10: 89,615,755 (GRCm39) |
V133I |
probably benign |
Het |
Bms1 |
T |
A |
6: 118,368,147 (GRCm39) |
K1039I |
probably damaging |
Het |
Cdh11 |
G |
A |
8: 103,391,276 (GRCm39) |
T320I |
probably damaging |
Het |
Col4a2 |
A |
G |
8: 11,493,104 (GRCm39) |
N1299S |
probably benign |
Het |
Dclk3 |
A |
G |
9: 111,298,244 (GRCm39) |
D596G |
probably damaging |
Het |
Dnah7a |
A |
T |
1: 53,561,388 (GRCm39) |
C2090S |
probably benign |
Het |
Dock7 |
T |
C |
4: 98,846,384 (GRCm39) |
D1749G |
unknown |
Het |
Egr1 |
T |
C |
18: 34,995,674 (GRCm39) |
F152S |
probably damaging |
Het |
Eln |
C |
A |
5: 134,744,559 (GRCm39) |
A479S |
unknown |
Het |
Gipc3 |
G |
A |
10: 81,179,097 (GRCm39) |
|
probably benign |
Het |
Hcfc2 |
G |
T |
10: 82,574,269 (GRCm39) |
G148* |
probably null |
Het |
Hmcn1 |
T |
C |
1: 150,684,391 (GRCm39) |
D393G |
probably benign |
Het |
Hnf4g |
A |
T |
3: 3,699,404 (GRCm39) |
N45Y |
probably benign |
Het |
Ighd |
G |
A |
12: 113,371,455 (GRCm39) |
P265S |
|
Het |
Igkv3-10 |
T |
C |
6: 70,550,001 (GRCm39) |
V49A |
probably damaging |
Het |
Inpp5f |
A |
C |
7: 128,278,515 (GRCm39) |
D435A |
possibly damaging |
Het |
Jmjd1c |
A |
T |
10: 67,060,745 (GRCm39) |
I852F |
possibly damaging |
Het |
Lhx5 |
T |
A |
5: 120,572,663 (GRCm39) |
V94E |
possibly damaging |
Het |
Map3k13 |
C |
A |
16: 21,740,518 (GRCm39) |
P615H |
possibly damaging |
Het |
Med12l |
T |
C |
3: 59,169,346 (GRCm39) |
W1579R |
probably damaging |
Het |
Mfsd14b |
C |
A |
13: 65,221,414 (GRCm39) |
V293L |
probably benign |
Het |
Mib1 |
T |
A |
18: 10,798,494 (GRCm39) |
L785H |
probably damaging |
Het |
Mrgpra6 |
C |
T |
7: 46,835,533 (GRCm39) |
R296K |
probably benign |
Het |
Mutyh |
A |
G |
4: 116,676,485 (GRCm39) |
S486G |
probably benign |
Het |
Naa15 |
T |
A |
3: 51,349,370 (GRCm39) |
Y96* |
probably null |
Het |
Naip1 |
C |
G |
13: 100,562,713 (GRCm39) |
E817D |
probably benign |
Het |
Nxf1 |
G |
A |
19: 8,739,772 (GRCm39) |
G42D |
probably damaging |
Het |
Obscn |
T |
C |
11: 58,885,189 (GRCm39) |
Y8023C |
unknown |
Het |
Opn5 |
G |
A |
17: 42,903,582 (GRCm39) |
T251I |
possibly damaging |
Het |
Or4c11b |
T |
A |
2: 88,625,491 (GRCm39) |
I255K |
probably damaging |
Het |
Plcl1 |
T |
C |
1: 55,735,241 (GRCm39) |
L194P |
probably damaging |
Het |
Prkab1 |
T |
C |
5: 116,162,274 (GRCm39) |
E12G |
probably benign |
Het |
Rsf1 |
GGCG |
GGCGACGGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
Serpinb9e |
T |
C |
13: 33,439,078 (GRCm39) |
F168S |
probably damaging |
Het |
Shank1 |
G |
A |
7: 43,962,342 (GRCm39) |
S71N |
unknown |
Het |
Skint3 |
T |
A |
4: 112,111,094 (GRCm39) |
V73E |
probably damaging |
Het |
Syne2 |
A |
G |
12: 76,037,197 (GRCm39) |
E3792G |
probably damaging |
Het |
T |
G |
A |
17: 8,654,988 (GRCm39) |
V173M |
probably damaging |
Het |
Tsr1 |
T |
C |
11: 74,799,225 (GRCm39) |
M802T |
possibly damaging |
Het |
Ttll4 |
A |
G |
1: 74,720,482 (GRCm39) |
N499S |
probably benign |
Het |
Txnrd3 |
T |
A |
6: 89,640,176 (GRCm39) |
|
probably null |
Het |
Vmn1r195 |
T |
C |
13: 22,463,273 (GRCm39) |
Y248H |
probably damaging |
Het |
Ybx3 |
G |
A |
6: 131,345,426 (GRCm39) |
R316C |
probably benign |
Het |
Zc3h7b |
C |
T |
15: 81,676,505 (GRCm39) |
P749L |
probably damaging |
Het |
Zfp607a |
A |
T |
7: 27,578,704 (GRCm39) |
K591N |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GGCTTTTCACTGCAAGAGACC -3'
(R):5'- ACCATAAGCAGAAAGGGTCC -3'
Sequencing Primer
(F):5'- CTTTTCACTGCAAGAGACCAGAAATG -3'
(R):5'- GAAAGGGTCCAAATAACTTCCTG -3'
|
Posted On |
2022-11-14 |