Incidental Mutation 'IGL03286:Slc47a2'
ID |
415710 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Slc47a2
|
Ensembl Gene |
ENSMUSG00000069855 |
Gene Name |
solute carrier family 47, member 2 |
Synonyms |
4933429E10Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03286
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
61192457-61233686 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 61233293 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Alanine
at position 79
(E79A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000090710
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010267]
[ENSMUST00000093029]
[ENSMUST00000131723]
[ENSMUST00000134423]
|
AlphaFold |
Q3V050 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000010267
|
SMART Domains |
Protein: ENSMUSP00000010267 Gene: ENSMUSG00000010122
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 |
possibly damaging
Transcript: ENSMUST00000093029
AA Change: E79A
PolyPhen 2
Score 0.572 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000090710 Gene: ENSMUSG00000069855 AA Change: E79A
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
AA Change: E79A
PolyPhen 2
Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000120907 Gene: ENSMUSG00000069855 AA Change: E79A
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 |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aox1 |
G |
A |
1: 58,088,543 (GRCm39) |
G110S |
probably benign |
Het |
Arhgap32 |
T |
C |
9: 32,170,816 (GRCm39) |
S1548P |
probably benign |
Het |
Cacna1s |
A |
G |
1: 136,005,397 (GRCm39) |
D147G |
probably benign |
Het |
Calcoco2 |
A |
G |
11: 95,994,098 (GRCm39) |
V116A |
possibly damaging |
Het |
Chd5 |
A |
T |
4: 152,469,952 (GRCm39) |
M1842L |
probably benign |
Het |
Comt |
T |
C |
16: 18,230,490 (GRCm39) |
D73G |
probably damaging |
Het |
Ctnna1 |
A |
G |
18: 35,308,206 (GRCm39) |
I175M |
probably benign |
Het |
Dnah6 |
A |
T |
6: 73,060,068 (GRCm39) |
Y2839N |
probably damaging |
Het |
Dph7 |
T |
A |
2: 24,856,628 (GRCm39) |
H193Q |
probably damaging |
Het |
Eif2b5 |
A |
G |
16: 20,321,012 (GRCm39) |
D258G |
probably damaging |
Het |
Eml5 |
T |
C |
12: 98,826,762 (GRCm39) |
D630G |
probably damaging |
Het |
Ext2 |
C |
T |
2: 93,537,617 (GRCm39) |
V590M |
probably damaging |
Het |
Fchsd2 |
T |
C |
7: 100,908,982 (GRCm39) |
|
probably null |
Het |
Gm13272 |
A |
G |
4: 88,698,586 (GRCm39) |
Q167R |
probably benign |
Het |
Gm21834 |
A |
G |
17: 58,048,922 (GRCm39) |
V98A |
possibly damaging |
Het |
Grid1 |
T |
A |
14: 35,242,642 (GRCm39) |
|
probably benign |
Het |
H2-DMa |
T |
A |
17: 34,356,083 (GRCm39) |
|
probably null |
Het |
Ighv5-17 |
T |
G |
12: 113,822,797 (GRCm39) |
E108A |
possibly damaging |
Het |
Invs |
A |
G |
4: 48,382,261 (GRCm39) |
T144A |
probably benign |
Het |
Ipo9 |
A |
G |
1: 135,334,816 (GRCm39) |
|
probably benign |
Het |
Itga4 |
A |
T |
2: 79,119,706 (GRCm39) |
Y504F |
probably damaging |
Het |
Krt5 |
A |
G |
15: 101,615,983 (GRCm39) |
F544S |
unknown |
Het |
Larp4 |
A |
G |
15: 99,883,967 (GRCm39) |
Y67C |
probably damaging |
Het |
Msh2 |
T |
C |
17: 87,990,095 (GRCm39) |
M261T |
possibly damaging |
Het |
Nav1 |
A |
T |
1: 135,382,274 (GRCm39) |
C1367S |
probably benign |
Het |
Nox4 |
T |
A |
7: 87,019,349 (GRCm39) |
|
probably benign |
Het |
Noxa1 |
A |
G |
2: 24,975,732 (GRCm39) |
|
probably null |
Het |
Or5b98 |
A |
C |
19: 12,931,532 (GRCm39) |
Y193S |
probably benign |
Het |
Or6p1 |
A |
C |
1: 174,258,743 (GRCm39) |
I250L |
probably benign |
Het |
Pde4d |
T |
A |
13: 110,091,040 (GRCm39) |
|
probably benign |
Het |
Pdlim2 |
C |
T |
14: 70,411,925 (GRCm39) |
G36S |
possibly damaging |
Het |
Plekhm2 |
A |
G |
4: 141,361,658 (GRCm39) |
S262P |
possibly damaging |
Het |
Pnpla6 |
C |
A |
8: 3,581,473 (GRCm39) |
T582K |
probably damaging |
Het |
Rap1b |
A |
T |
10: 117,654,480 (GRCm39) |
L120* |
probably null |
Het |
Rft1 |
C |
T |
14: 30,383,323 (GRCm39) |
T121I |
probably benign |
Het |
Scn1a |
A |
G |
2: 66,107,920 (GRCm39) |
I1613T |
probably damaging |
Het |
Slc9a4 |
A |
G |
1: 40,619,928 (GRCm39) |
I85V |
probably null |
Het |
Slfn8 |
A |
T |
11: 82,904,294 (GRCm39) |
F365L |
probably damaging |
Het |
Smcr8 |
T |
A |
11: 60,668,853 (GRCm39) |
|
probably benign |
Het |
Sntb1 |
T |
C |
15: 55,655,442 (GRCm39) |
D258G |
possibly damaging |
Het |
Sorbs1 |
A |
G |
19: 40,332,858 (GRCm39) |
I520T |
probably damaging |
Het |
Sptbn2 |
T |
C |
19: 4,797,860 (GRCm39) |
S1896P |
probably damaging |
Het |
Sptlc3 |
G |
A |
2: 139,431,579 (GRCm39) |
G367D |
probably damaging |
Het |
Stab1 |
C |
T |
14: 30,881,283 (GRCm39) |
|
probably benign |
Het |
Tars2 |
T |
C |
3: 95,662,067 (GRCm39) |
|
probably benign |
Het |
Tchhl1 |
C |
T |
3: 93,378,430 (GRCm39) |
A378V |
probably benign |
Het |
Tet3 |
A |
T |
6: 83,352,760 (GRCm39) |
F1012Y |
probably damaging |
Het |
Tuba8 |
A |
G |
6: 121,199,913 (GRCm39) |
D199G |
possibly damaging |
Het |
Vmn2r110 |
T |
A |
17: 20,804,468 (GRCm39) |
T151S |
possibly damaging |
Het |
Xirp2 |
T |
C |
2: 67,346,654 (GRCm39) |
I2965T |
probably damaging |
Het |
Zfp688 |
T |
A |
7: 127,018,703 (GRCm39) |
M141L |
probably benign |
Het |
|
Other mutations in Slc47a2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00848:Slc47a2
|
APN |
11 |
61,193,059 (GRCm39) |
missense |
probably benign |
0.16 |
IGL01367:Slc47a2
|
APN |
11 |
61,220,607 (GRCm39) |
missense |
probably benign |
0.03 |
IGL01681:Slc47a2
|
APN |
11 |
61,228,866 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01874:Slc47a2
|
APN |
11 |
61,203,685 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL02049:Slc47a2
|
APN |
11 |
61,233,365 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02399:Slc47a2
|
APN |
11 |
61,193,020 (GRCm39) |
unclassified |
probably benign |
|
IGL02481:Slc47a2
|
APN |
11 |
61,227,067 (GRCm39) |
missense |
possibly damaging |
0.58 |
IGL02880:Slc47a2
|
APN |
11 |
61,198,366 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL03068:Slc47a2
|
APN |
11 |
61,194,769 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03136:Slc47a2
|
APN |
11 |
61,201,591 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03236:Slc47a2
|
APN |
11 |
61,204,505 (GRCm39) |
missense |
probably damaging |
1.00 |
R0047:Slc47a2
|
UTSW |
11 |
61,227,068 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0047:Slc47a2
|
UTSW |
11 |
61,227,068 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0597:Slc47a2
|
UTSW |
11 |
61,200,802 (GRCm39) |
missense |
probably damaging |
0.98 |
R0690:Slc47a2
|
UTSW |
11 |
61,233,330 (GRCm39) |
missense |
possibly damaging |
0.62 |
R2042:Slc47a2
|
UTSW |
11 |
61,228,908 (GRCm39) |
missense |
probably benign |
0.05 |
R2217:Slc47a2
|
UTSW |
11 |
61,204,497 (GRCm39) |
missense |
probably benign |
0.00 |
R2218:Slc47a2
|
UTSW |
11 |
61,204,497 (GRCm39) |
missense |
probably benign |
0.00 |
R2271:Slc47a2
|
UTSW |
11 |
61,219,352 (GRCm39) |
critical splice donor site |
probably null |
|
R2272:Slc47a2
|
UTSW |
11 |
61,219,352 (GRCm39) |
critical splice donor site |
probably null |
|
R4067:Slc47a2
|
UTSW |
11 |
61,194,773 (GRCm39) |
missense |
probably benign |
0.00 |
R4861:Slc47a2
|
UTSW |
11 |
61,227,059 (GRCm39) |
missense |
probably benign |
0.00 |
R4861:Slc47a2
|
UTSW |
11 |
61,227,059 (GRCm39) |
missense |
probably benign |
0.00 |
R4862:Slc47a2
|
UTSW |
11 |
61,204,520 (GRCm39) |
missense |
possibly damaging |
0.69 |
R4985:Slc47a2
|
UTSW |
11 |
61,193,059 (GRCm39) |
missense |
probably benign |
|
R5419:Slc47a2
|
UTSW |
11 |
61,198,412 (GRCm39) |
missense |
probably benign |
|
R5593:Slc47a2
|
UTSW |
11 |
61,233,486 (GRCm39) |
missense |
probably benign |
0.00 |
R7105:Slc47a2
|
UTSW |
11 |
61,233,269 (GRCm39) |
missense |
probably benign |
0.07 |
R7358:Slc47a2
|
UTSW |
11 |
61,199,699 (GRCm39) |
missense |
possibly damaging |
0.78 |
R7522:Slc47a2
|
UTSW |
11 |
61,193,076 (GRCm39) |
missense |
probably benign |
0.14 |
R8743:Slc47a2
|
UTSW |
11 |
61,233,588 (GRCm39) |
missense |
probably benign |
0.03 |
R8916:Slc47a2
|
UTSW |
11 |
61,193,118 (GRCm39) |
missense |
probably damaging |
1.00 |
R9060:Slc47a2
|
UTSW |
11 |
61,227,699 (GRCm39) |
missense |
probably benign |
0.00 |
R9383:Slc47a2
|
UTSW |
11 |
61,227,749 (GRCm39) |
missense |
probably damaging |
1.00 |
R9484:Slc47a2
|
UTSW |
11 |
61,227,060 (GRCm39) |
missense |
possibly damaging |
0.46 |
Z1176:Slc47a2
|
UTSW |
11 |
61,216,715 (GRCm39) |
missense |
probably benign |
0.28 |
Z1177:Slc47a2
|
UTSW |
11 |
61,219,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |