Incidental Mutation 'R9050:Slc47a1'
| ID |
688306 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc47a1
|
| Ensembl Gene |
ENSMUSG00000010122 |
| Gene Name |
solute carrier family 47, member 1 |
| Synonyms |
MATE1, mMATE1, 1300013J15Rik |
| MMRRC Submission |
068876-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9050 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
61234227-61269171 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 61235160 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 558
(I558V)
|
| 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: I558V
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000010267
Gene: ENSMUSG00000010122
AA Change: I558V
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
96% (53/55) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd5 |
T |
C |
9: 122,208,605 (GRCm39) |
Y332H |
probably benign |
Het |
| Apoc3 |
A |
G |
9: 46,144,592 (GRCm39) |
F77L |
probably benign |
Het |
| Atp5f1c |
A |
T |
2: 10,069,049 (GRCm39) |
D99E |
probably damaging |
Het |
| Atxn3 |
A |
T |
12: 101,924,387 (GRCm39) |
|
probably benign |
Het |
| Calcoco1 |
A |
G |
15: 102,618,400 (GRCm39) |
V463A |
probably damaging |
Het |
| Cby3 |
A |
G |
11: 50,248,617 (GRCm39) |
T20A |
possibly damaging |
Het |
| Cdhr2 |
A |
G |
13: 54,883,133 (GRCm39) |
D1256G |
probably benign |
Het |
| Cep350 |
A |
T |
1: 155,738,687 (GRCm39) |
D2385E |
possibly damaging |
Het |
| Clec9a |
G |
C |
6: 129,396,561 (GRCm39) |
A170P |
possibly damaging |
Het |
| Col5a3 |
C |
T |
9: 20,697,691 (GRCm39) |
G871S |
probably damaging |
Het |
| Fmo4 |
A |
G |
1: 162,635,099 (GRCm39) |
S159P |
probably benign |
Het |
| Gabbr2 |
A |
G |
4: 46,798,659 (GRCm39) |
F272L |
probably benign |
Het |
| Glp1r |
G |
A |
17: 31,137,892 (GRCm39) |
G108S |
probably damaging |
Het |
| Herpud1 |
T |
C |
8: 95,117,454 (GRCm39) |
S13P |
probably benign |
Het |
| Hps5 |
T |
C |
7: 46,422,607 (GRCm39) |
D574G |
probably benign |
Het |
| Il7 |
A |
G |
3: 7,669,170 (GRCm39) |
V22A |
possibly damaging |
Het |
| Kmt5c |
A |
G |
7: 4,745,281 (GRCm39) |
T91A |
probably benign |
Het |
| Mrpl39 |
A |
C |
16: 84,531,844 (GRCm39) |
|
probably benign |
Het |
| Mtr |
T |
C |
13: 12,231,748 (GRCm39) |
D652G |
probably null |
Het |
| Neb |
C |
T |
2: 52,079,901 (GRCm39) |
V5768M |
probably damaging |
Het |
| Ngef |
G |
A |
1: 87,431,010 (GRCm39) |
P269L |
probably damaging |
Het |
| Nicol1 |
G |
C |
5: 34,140,874 (GRCm39) |
A29P |
unknown |
Het |
| Nmrk1 |
T |
A |
19: 18,618,539 (GRCm39) |
M74K |
probably benign |
Het |
| Obox8 |
A |
G |
7: 14,066,870 (GRCm39) |
L58P |
unknown |
Het |
| Oga |
T |
C |
19: 45,756,354 (GRCm39) |
T430A |
probably damaging |
Het |
| Or1o4 |
A |
G |
17: 37,590,820 (GRCm39) |
Y164H |
probably damaging |
Het |
| Or2b2 |
A |
G |
13: 21,887,150 (GRCm39) |
|
probably benign |
Het |
| Or2y1e |
T |
C |
11: 49,218,930 (GRCm39) |
S231P |
possibly damaging |
Het |
| Or5p62 |
A |
C |
7: 107,771,087 (GRCm39) |
L288W |
probably damaging |
Het |
| Pcdhb17 |
T |
G |
18: 37,620,286 (GRCm39) |
V692G |
probably damaging |
Het |
| Pfas |
A |
G |
11: 68,882,567 (GRCm39) |
V829A |
probably benign |
Het |
| Pramel24 |
A |
T |
4: 143,453,329 (GRCm39) |
T146S |
probably benign |
Het |
| Pth |
A |
G |
7: 112,985,043 (GRCm39) |
V110A |
probably benign |
Het |
| Rabggta |
T |
A |
14: 55,959,056 (GRCm39) |
Q37L |
probably benign |
Het |
| Rin3 |
A |
G |
12: 102,335,738 (GRCm39) |
T550A |
probably damaging |
Het |
| Scn8a |
G |
A |
15: 100,906,161 (GRCm39) |
V785I |
possibly damaging |
Het |
| Sec24d |
T |
C |
3: 123,144,374 (GRCm39) |
V617A |
probably benign |
Het |
| Slc6a15 |
A |
T |
10: 103,252,516 (GRCm39) |
M560L |
possibly damaging |
Het |
| Slfn9 |
G |
A |
11: 82,879,120 (GRCm39) |
T3I |
probably benign |
Het |
| Spag9 |
A |
G |
11: 93,935,294 (GRCm39) |
H35R |
probably damaging |
Het |
| Spats2 |
G |
T |
15: 99,110,010 (GRCm39) |
R469L |
possibly damaging |
Het |
| Sprr2b |
CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC |
CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC |
3: 92,224,826 (GRCm39) |
|
probably benign |
Het |
| Ssx2ip |
C |
T |
3: 146,144,512 (GRCm39) |
S592L |
possibly damaging |
Het |
| Ston1 |
A |
G |
17: 88,944,228 (GRCm39) |
T545A |
probably benign |
Het |
| Suz12 |
C |
T |
11: 79,913,023 (GRCm39) |
L379F |
probably damaging |
Het |
| Tbc1d24 |
C |
A |
17: 24,404,899 (GRCm39) |
V82L |
probably benign |
Het |
| Tbc1d24 |
A |
T |
17: 24,404,898 (GRCm39) |
V82E |
possibly damaging |
Het |
| Thada |
A |
G |
17: 84,736,629 (GRCm39) |
I884T |
probably damaging |
Het |
| Tln1 |
C |
A |
4: 43,549,786 (GRCm39) |
E542* |
probably null |
Het |
| Togaram2 |
T |
C |
17: 72,007,878 (GRCm39) |
L401P |
probably damaging |
Het |
| Ttbk2 |
A |
T |
2: 120,637,319 (GRCm39) |
N115K |
probably benign |
Het |
| Tubgcp4 |
G |
A |
2: 121,004,079 (GRCm39) |
S40N |
probably benign |
Het |
| Wrn |
T |
C |
8: 33,833,021 (GRCm39) |
D157G |
probably damaging |
Het |
| Zer1 |
A |
T |
2: 30,001,294 (GRCm39) |
F70Y |
probably damaging |
Het |
| Zfp791 |
T |
C |
8: 85,837,334 (GRCm39) |
I177V |
possibly 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 |
|
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'- TTAGAGGGCCCAGAACATGC -3'
(R):5'- TCCTTTCAAGCTACTCACTAAGACC -3'
Sequencing Primer
(F):5'- CCAGAACATGCTGAACATATTGCTG -3'
(R):5'- ACAGTGTGTCCTGAGAGCCATG -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation