Incidental Mutation 'R5957:Slc47a1'
| ID |
471235 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc47a1
|
| Ensembl Gene |
ENSMUSG00000010122 |
| Gene Name |
solute carrier family 47, member 1 |
| Synonyms |
MATE1, mMATE1, 1300013J15Rik |
| MMRRC Submission |
043246-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5957 (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 G
at 61235168 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 555
(V555A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000010267
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010267]
[ENSMUST00000093029]
[ENSMUST00000131723]
[ENSMUST00000134423]
|
| AlphaFold |
Q8K0H1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000010267
AA Change: V555A
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000010267
Gene: ENSMUSG00000010122
AA Change: V555A
| 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: ENSMUST00000093029
|
| SMART Domains |
Protein: ENSMUSP00000090710
Gene: ENSMUSG00000069855
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
34 |
N/A |
INTRINSIC |
|
Pfam:MatE
|
53 |
213 |
1.7e-35 |
PFAM |
|
transmembrane domain
|
227 |
246 |
N/A |
INTRINSIC |
|
Pfam:MatE
|
274 |
435 |
4e-34 |
PFAM |
|
transmembrane domain
|
444 |
466 |
N/A |
INTRINSIC |
|
transmembrane domain
|
545 |
567 |
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 |
probably benign
Transcript: ENSMUST00000134423
|
| SMART Domains |
Protein: ENSMUSP00000120907
Gene: ENSMUSG00000069855
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
34 |
N/A |
INTRINSIC |
|
Pfam:MatE
|
53 |
213 |
3.5e-32 |
PFAM |
|
transmembrane domain
|
227 |
246 |
N/A |
INTRINSIC |
|
Pfam:MatE
|
274 |
435 |
1.7e-36 |
PFAM |
|
transmembrane domain
|
444 |
466 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147450
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.0%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
G |
3: 137,775,922 (GRCm39) |
T1704A |
probably benign |
Het |
| Adgrg7 |
T |
A |
16: 56,593,790 (GRCm39) |
N142I |
probably damaging |
Het |
| Aldh18a1 |
A |
T |
19: 40,558,981 (GRCm39) |
Y286* |
probably null |
Het |
| Arpp21 |
T |
C |
9: 112,014,754 (GRCm39) |
T17A |
probably benign |
Het |
| Bnip2 |
T |
C |
9: 69,906,520 (GRCm39) |
I147T |
probably damaging |
Het |
| Ccr8 |
T |
C |
9: 119,922,893 (GRCm39) |
Y3H |
probably damaging |
Het |
| Cenps |
C |
A |
4: 149,214,658 (GRCm39) |
|
probably benign |
Het |
| Cul7 |
G |
A |
17: 46,968,683 (GRCm39) |
G553S |
probably damaging |
Het |
| Cyp21a1 |
A |
G |
17: 35,022,150 (GRCm39) |
I206T |
probably benign |
Het |
| Dennd4b |
A |
G |
3: 90,178,272 (GRCm39) |
D488G |
probably damaging |
Het |
| Dip2b |
T |
C |
15: 100,107,575 (GRCm39) |
L1195P |
probably benign |
Het |
| Dmac2l |
T |
C |
12: 69,790,558 (GRCm39) |
V185A |
probably benign |
Het |
| Dock5 |
T |
A |
14: 68,095,443 (GRCm39) |
H77L |
probably benign |
Het |
| Fbxw13 |
C |
T |
9: 109,021,734 (GRCm39) |
|
probably null |
Het |
| Fmnl3 |
G |
A |
15: 99,223,791 (GRCm39) |
R302W |
probably damaging |
Het |
| Gbf1 |
G |
T |
19: 46,234,660 (GRCm39) |
|
probably null |
Het |
| Gm4846 |
T |
C |
1: 166,314,522 (GRCm39) |
I374V |
probably benign |
Het |
| Gsk3b |
C |
A |
16: 38,014,315 (GRCm39) |
P258T |
probably damaging |
Het |
| Igsf5 |
T |
C |
16: 96,165,249 (GRCm39) |
V8A |
probably benign |
Het |
| Il22 |
T |
A |
10: 118,041,071 (GRCm39) |
L59Q |
probably damaging |
Het |
| Ildr1 |
T |
C |
16: 36,545,896 (GRCm39) |
*517Q |
probably null |
Het |
| Iqca1 |
T |
A |
1: 90,008,670 (GRCm39) |
D450V |
probably damaging |
Het |
| Itga5 |
T |
C |
15: 103,259,856 (GRCm39) |
D647G |
probably benign |
Het |
| Myh7 |
T |
G |
14: 55,226,535 (GRCm39) |
N408T |
probably damaging |
Het |
| Mylk3 |
T |
C |
8: 86,055,266 (GRCm39) |
M564V |
probably damaging |
Het |
| Nsd2 |
T |
A |
5: 34,012,947 (GRCm39) |
M407K |
probably damaging |
Het |
| Odad2 |
T |
C |
18: 7,285,706 (GRCm39) |
E219G |
probably benign |
Het |
| Oprd1 |
C |
T |
4: 131,871,474 (GRCm39) |
V75I |
probably benign |
Het |
| Poli |
G |
A |
18: 70,650,511 (GRCm39) |
H310Y |
probably benign |
Het |
| Pramel19 |
T |
C |
4: 101,798,898 (GRCm39) |
F290L |
probably benign |
Het |
| Ptch1 |
C |
T |
13: 63,672,929 (GRCm39) |
R755H |
probably damaging |
Het |
| Pygl |
A |
T |
12: 70,246,494 (GRCm39) |
M351K |
probably damaging |
Het |
| Serpinb9b |
T |
C |
13: 33,223,831 (GRCm39) |
L341P |
possibly damaging |
Het |
| Slc8a2 |
C |
A |
7: 15,879,209 (GRCm39) |
T565K |
possibly damaging |
Het |
| Snx14 |
T |
C |
9: 88,285,327 (GRCm39) |
I446V |
possibly damaging |
Het |
| Syde1 |
T |
C |
10: 78,425,951 (GRCm39) |
Y72C |
probably damaging |
Het |
| Trim37 |
C |
T |
11: 87,036,377 (GRCm39) |
R138C |
probably damaging |
Het |
| Tubgcp5 |
T |
A |
7: 55,464,710 (GRCm39) |
S530R |
probably benign |
Het |
| Vps13c |
T |
C |
9: 67,862,253 (GRCm39) |
S2957P |
probably damaging |
Het |
| Wdr41 |
T |
C |
13: 95,133,695 (GRCm39) |
|
probably null |
Het |
| Zyg11b |
T |
C |
4: 108,102,210 (GRCm39) |
K504E |
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 |
|
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'- TGTTAGAGGGCCCAGAACATG -3'
(R):5'- AAGCTACTCACTAAGACCCCTTTTC -3'
Sequencing Primer
(F):5'- CCAGAACATGCTGAACATATTGCTG -3'
(R):5'- ACAGTGTGTCCTGAGAGCCATG -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation