Incidental Mutation 'R1255:Slc47a1'
| ID |
151425 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc47a1
|
| Ensembl Gene |
ENSMUSG00000010122 |
| Gene Name |
solute carrier family 47, member 1 |
| Synonyms |
MATE1, mMATE1, 1300013J15Rik |
| MMRRC Submission |
039322-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1255 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
61234227-61269171 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 61260974 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 142
(L142Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115132
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010267]
[ENSMUST00000131723]
[ENSMUST00000148671]
|
| AlphaFold |
Q8K0H1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000010267
AA Change: L142Q
PolyPhen 2
Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000010267
Gene: ENSMUSG00000010122
AA Change: L142Q
| 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 damaging
Transcript: ENSMUST00000131723
AA Change: L142Q
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000115132
Gene: ENSMUSG00000010122
AA Change: L142Q
| 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 |
possibly damaging
Transcript: ENSMUST00000148671
AA Change: L92Q
PolyPhen 2
Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000118265
Gene: ENSMUSG00000010122
AA Change: L92Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MatE
|
1 |
154 |
4.5e-30 |
PFAM |
|
transmembrane domain
|
164 |
186 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 91.9%
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
T |
7: 119,807,016 (GRCm39) |
S21C |
probably damaging |
Het |
| Abcb10 |
C |
T |
8: 124,688,791 (GRCm39) |
G495D |
probably damaging |
Het |
| Acsf3 |
T |
C |
8: 123,512,705 (GRCm39) |
|
probably null |
Het |
| Aff3 |
A |
T |
1: 38,243,965 (GRCm39) |
|
probably null |
Het |
| Antxr2 |
A |
T |
5: 98,123,231 (GRCm39) |
I272N |
probably benign |
Het |
| Asphd2 |
A |
C |
5: 112,539,677 (GRCm39) |
V52G |
probably damaging |
Het |
| Atxn3 |
T |
A |
12: 101,900,593 (GRCm39) |
Q230L |
probably damaging |
Het |
| Bltp3b |
T |
C |
10: 89,581,132 (GRCm39) |
I9T |
probably damaging |
Het |
| Ccdc39 |
T |
C |
3: 33,880,629 (GRCm39) |
K446R |
probably damaging |
Het |
| Ciz1 |
T |
A |
2: 32,255,888 (GRCm39) |
|
probably null |
Het |
| Dennd5b |
A |
T |
6: 148,943,148 (GRCm39) |
M576K |
possibly damaging |
Het |
| Ebf3 |
C |
T |
7: 136,826,941 (GRCm39) |
V315I |
probably benign |
Het |
| Epha5 |
G |
T |
5: 84,298,254 (GRCm39) |
A383E |
probably damaging |
Het |
| Epha5 |
C |
T |
5: 84,298,255 (GRCm39) |
A383T |
probably damaging |
Het |
| Gimap1 |
T |
A |
6: 48,719,940 (GRCm39) |
V184E |
probably benign |
Het |
| Gtf2f1 |
A |
G |
17: 57,317,982 (GRCm39) |
V18A |
probably damaging |
Het |
| Kcnn3 |
A |
T |
3: 89,559,416 (GRCm39) |
D562V |
possibly damaging |
Het |
| Kif20b |
A |
G |
19: 34,927,506 (GRCm39) |
T883A |
probably benign |
Het |
| Kmt2c |
A |
T |
5: 25,556,151 (GRCm39) |
L1198Q |
probably damaging |
Het |
| Nipal2 |
T |
C |
15: 34,584,828 (GRCm39) |
I247V |
probably benign |
Het |
| Or5ak22 |
T |
A |
2: 85,230,647 (GRCm39) |
I77F |
probably damaging |
Het |
| Rad51ap2 |
G |
T |
12: 11,508,095 (GRCm39) |
K672N |
possibly damaging |
Het |
| Rbm28 |
C |
T |
6: 29,158,246 (GRCm39) |
G155D |
probably damaging |
Het |
| Sema6a |
A |
T |
18: 47,382,366 (GRCm39) |
M701K |
probably damaging |
Het |
| Snx25 |
A |
T |
8: 46,569,275 (GRCm39) |
N207K |
probably benign |
Het |
| Son |
T |
A |
16: 91,461,583 (GRCm39) |
V205E |
probably damaging |
Het |
| Spz1 |
C |
A |
13: 92,712,138 (GRCm39) |
V113F |
probably benign |
Het |
| Tcn2 |
T |
C |
11: 3,872,120 (GRCm39) |
T336A |
probably benign |
Het |
| Tln1 |
T |
C |
4: 43,538,044 (GRCm39) |
D1852G |
probably damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Zfp729a |
T |
C |
13: 67,769,965 (GRCm39) |
E88G |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGGGAAGAGTCAGCCAAGATCAAC -3'
(R):5'- CCTGCACTAGCCATGTGTAGCATC -3'
Sequencing Primer
(F):5'- AACTTAAGCTCACCTTGGTGTG -3'
(R):5'- gcagcaagcccatctctc -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation