Incidental Mutation 'R0927:Slc47a1'
| ID |
80539 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc47a1
|
| Ensembl Gene |
ENSMUSG00000010122 |
| Gene Name |
solute carrier family 47, member 1 |
| Synonyms |
MATE1, mMATE1, 1300013J15Rik |
| MMRRC Submission |
039074-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0927 (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 61264248 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 57
(F57S)
|
| 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: F57S
PolyPhen 2
Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000010267
Gene: ENSMUSG00000010122
AA Change: F57S
| 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: F57S
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000115132
Gene: ENSMUSG00000010122
AA Change: F57S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
19 |
N/A |
INTRINSIC |
|
Pfam:MatE
|
44 |
180 |
2.7e-29 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000148671
AA Change: F7S
PolyPhen 2
Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000118265
Gene: ENSMUSG00000010122
AA Change: F7S
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.0%
- 20x: 93.7%
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb8 |
T |
C |
5: 24,607,317 (GRCm39) |
L363P |
probably damaging |
Het |
| Adam12 |
T |
A |
7: 133,599,959 (GRCm39) |
H85L |
probably damaging |
Het |
| Adam34 |
A |
T |
8: 44,104,621 (GRCm39) |
H341Q |
probably damaging |
Het |
| Adam34l |
A |
T |
8: 44,078,160 (GRCm39) |
M688K |
probably benign |
Het |
| Adam7 |
A |
G |
14: 68,754,133 (GRCm39) |
L322P |
probably damaging |
Het |
| Adcy5 |
T |
A |
16: 34,976,613 (GRCm39) |
S49T |
probably benign |
Het |
| Arfgap2 |
T |
C |
2: 91,104,150 (GRCm39) |
S374P |
probably benign |
Het |
| Arpp19 |
G |
A |
9: 74,944,967 (GRCm39) |
|
probably benign |
Het |
| Baz1a |
T |
C |
12: 54,941,773 (GRCm39) |
K1478E |
probably damaging |
Het |
| Cdc27 |
G |
T |
11: 104,396,467 (GRCm39) |
A812E |
possibly damaging |
Het |
| Chtf8 |
G |
A |
8: 107,612,150 (GRCm39) |
T263I |
probably damaging |
Het |
| Clcn6 |
T |
C |
4: 148,113,849 (GRCm39) |
N70D |
probably benign |
Het |
| Cntnap5c |
A |
T |
17: 58,349,553 (GRCm39) |
T289S |
possibly damaging |
Het |
| Dzip3 |
T |
C |
16: 48,795,840 (GRCm39) |
N177S |
probably damaging |
Het |
| Edar |
G |
T |
10: 58,465,313 (GRCm39) |
|
probably null |
Het |
| Enam |
T |
A |
5: 88,641,919 (GRCm39) |
N244K |
possibly damaging |
Het |
| Fbxw10 |
A |
G |
11: 62,767,770 (GRCm39) |
K874E |
probably damaging |
Het |
| Glra3 |
A |
G |
8: 56,578,239 (GRCm39) |
E432G |
possibly damaging |
Het |
| Grin3b |
G |
A |
10: 79,807,062 (GRCm39) |
R110Q |
probably benign |
Het |
| Herc3 |
T |
A |
6: 58,845,748 (GRCm39) |
V423D |
possibly damaging |
Het |
| Ifit2 |
A |
T |
19: 34,550,984 (GRCm39) |
T175S |
probably benign |
Het |
| Kcnj8 |
T |
G |
6: 142,511,627 (GRCm39) |
I327L |
possibly damaging |
Het |
| Kcns2 |
A |
T |
15: 34,839,242 (GRCm39) |
I202F |
probably benign |
Het |
| Kif12 |
T |
C |
4: 63,087,010 (GRCm39) |
R305G |
possibly damaging |
Het |
| Limch1 |
A |
G |
5: 67,154,576 (GRCm39) |
D362G |
probably damaging |
Het |
| Lrba |
T |
C |
3: 86,687,540 (GRCm39) |
I2815T |
probably damaging |
Het |
| Lrrtm1 |
G |
T |
6: 77,221,843 (GRCm39) |
M433I |
probably damaging |
Het |
| Myh7b |
A |
G |
2: 155,462,040 (GRCm39) |
D312G |
probably damaging |
Het |
| Nrxn1 |
A |
T |
17: 90,344,758 (GRCm39) |
I382N |
probably damaging |
Het |
| Nudt6 |
C |
T |
3: 37,459,502 (GRCm39) |
R161H |
probably benign |
Het |
| Or10w1 |
T |
A |
19: 13,631,816 (GRCm39) |
W8R |
probably damaging |
Het |
| Or11g2 |
A |
C |
14: 50,856,044 (GRCm39) |
M122L |
possibly damaging |
Het |
| Or4m1 |
A |
T |
14: 50,558,186 (GRCm39) |
Y35* |
probably null |
Het |
| Or7e166 |
C |
T |
9: 19,624,945 (GRCm39) |
A274V |
probably benign |
Het |
| Pmf1 |
A |
T |
3: 88,303,369 (GRCm39) |
V64D |
probably damaging |
Het |
| Pomgnt1 |
T |
A |
4: 116,009,048 (GRCm39) |
V29D |
probably damaging |
Het |
| Pramel22 |
T |
A |
4: 143,380,790 (GRCm39) |
H411L |
possibly damaging |
Het |
| Pramel26 |
A |
T |
4: 143,539,378 (GRCm39) |
D38E |
probably benign |
Het |
| Prex1 |
C |
T |
2: 166,428,457 (GRCm39) |
A925T |
probably benign |
Het |
| Pus3 |
A |
G |
9: 35,476,327 (GRCm39) |
Y72C |
probably damaging |
Het |
| Rnf20 |
T |
C |
4: 49,642,176 (GRCm39) |
S247P |
probably damaging |
Het |
| Rnf213 |
T |
A |
11: 119,305,396 (GRCm39) |
D542E |
probably benign |
Het |
| Sidt1 |
T |
C |
16: 44,063,895 (GRCm39) |
D786G |
probably benign |
Het |
| Sirt6 |
A |
T |
10: 81,458,475 (GRCm39) |
D219E |
probably damaging |
Het |
| Slc36a2 |
A |
T |
11: 55,072,411 (GRCm39) |
I67N |
probably damaging |
Het |
| Spg11 |
T |
A |
2: 121,924,968 (GRCm39) |
T756S |
probably damaging |
Het |
| Sptbn1 |
C |
A |
11: 30,071,591 (GRCm39) |
R1447L |
probably damaging |
Het |
| Tcf7l2 |
A |
G |
19: 55,907,387 (GRCm39) |
M340V |
probably damaging |
Het |
| Thap1 |
T |
C |
8: 26,652,733 (GRCm39) |
V157A |
probably benign |
Het |
| Ubash3b |
G |
A |
9: 40,934,853 (GRCm39) |
Q354* |
probably null |
Het |
| Ubtd1 |
G |
A |
19: 42,020,460 (GRCm39) |
W68* |
probably null |
Het |
| Wdr64 |
G |
T |
1: 175,620,647 (GRCm39) |
R793L |
probably damaging |
Het |
| Zbtb24 |
C |
T |
10: 41,327,432 (GRCm39) |
T106I |
probably benign |
Het |
| Zbtb26 |
T |
C |
2: 37,326,337 (GRCm39) |
N233S |
possibly damaging |
Het |
| Zcchc24 |
A |
T |
14: 25,757,585 (GRCm39) |
N99K |
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 |
|
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 |
|
|
R9802:Slc47a1
|
UTSW |
11 |
61,240,342 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGATGGCCTCACCCAACTCAGTAG -3'
(R):5'- ATTGGAATGTAAGGCAGGATGGCTC -3'
Sequencing Primer
(F):5'- gcaccctgaccttagcc -3'
(R):5'- atcatcagtcaagaaaatgctcc -3'
|
| Posted On |
2013-11-07 |
Incidental Mutation