Incidental Mutation 'IGL01367:Slc47a2'
| ID |
75966 |
| 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 # |
IGL01367
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
61192457-61233686 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 61220607 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 184
(T184S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120907
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093029]
[ENSMUST00000134423]
|
| AlphaFold |
Q3V050 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000082784
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093029
AA Change: T184S
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000090710
Gene: ENSMUSG00000069855
AA Change: T184S
| 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: ENSMUST00000134423
AA Change: T184S
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000120907
Gene: ENSMUSG00000069855
AA Change: T184S
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
A |
G |
11: 30,404,843 (GRCm39) |
V20A |
possibly damaging |
Het |
| Alk |
T |
C |
17: 72,207,781 (GRCm39) |
I985V |
probably damaging |
Het |
| Anapc2 |
A |
C |
2: 25,164,794 (GRCm39) |
R59S |
possibly damaging |
Het |
| Ankhd1 |
T |
A |
18: 36,711,696 (GRCm39) |
D165E |
probably benign |
Het |
| Asb8 |
A |
T |
15: 98,034,054 (GRCm39) |
V167D |
probably damaging |
Het |
| Atp5pf |
A |
G |
16: 84,625,360 (GRCm39) |
M81T |
probably benign |
Het |
| Bcl7b |
A |
G |
5: 135,208,950 (GRCm39) |
T138A |
probably damaging |
Het |
| Cdh23 |
A |
G |
10: 60,146,566 (GRCm39) |
L2869P |
probably damaging |
Het |
| Chl1 |
T |
C |
6: 103,706,186 (GRCm39) |
S1174P |
probably benign |
Het |
| Clec2g |
T |
C |
6: 128,925,699 (GRCm39) |
I36T |
unknown |
Het |
| Denr |
A |
G |
5: 124,046,182 (GRCm39) |
D4G |
probably benign |
Het |
| Dnajc10 |
T |
C |
2: 80,155,096 (GRCm39) |
|
probably benign |
Het |
| Egf |
C |
T |
3: 129,496,104 (GRCm39) |
|
probably null |
Het |
| Galnt10 |
A |
C |
11: 57,616,409 (GRCm39) |
Y108S |
probably damaging |
Het |
| Gls |
C |
T |
1: 52,207,558 (GRCm39) |
G602D |
probably damaging |
Het |
| Grb10 |
G |
T |
11: 11,895,599 (GRCm39) |
Q242K |
probably damaging |
Het |
| Hspg2 |
A |
T |
4: 137,265,800 (GRCm39) |
Y1837F |
probably damaging |
Het |
| Ikzf1 |
G |
T |
11: 11,698,358 (GRCm39) |
A70S |
probably benign |
Het |
| Il17ra |
T |
C |
6: 120,458,426 (GRCm39) |
Y526H |
probably damaging |
Het |
| Il34 |
A |
T |
8: 111,469,375 (GRCm39) |
I186N |
possibly damaging |
Het |
| Iqca1 |
G |
A |
1: 89,998,350 (GRCm39) |
|
probably benign |
Het |
| Kntc1 |
A |
G |
5: 123,896,546 (GRCm39) |
Y136C |
probably damaging |
Het |
| Man2b2 |
A |
T |
5: 36,971,681 (GRCm39) |
Y257* |
probably null |
Het |
| Map3k19 |
A |
G |
1: 127,752,088 (GRCm39) |
F421S |
possibly damaging |
Het |
| Melk |
A |
G |
4: 44,332,907 (GRCm39) |
T288A |
possibly damaging |
Het |
| Mpp2 |
T |
C |
11: 101,954,135 (GRCm39) |
E187G |
probably damaging |
Het |
| Mtf2 |
A |
G |
5: 108,252,323 (GRCm39) |
T394A |
probably benign |
Het |
| Neil2 |
A |
G |
14: 63,429,177 (GRCm39) |
S39P |
probably damaging |
Het |
| Or4e5 |
T |
A |
14: 52,727,624 (GRCm39) |
I266F |
probably benign |
Het |
| Pcdh7 |
A |
G |
5: 58,286,566 (GRCm39) |
E1214G |
possibly damaging |
Het |
| Pcdhb17 |
G |
T |
18: 37,620,548 (GRCm39) |
Q779H |
probably benign |
Het |
| Pik3c2b |
A |
G |
1: 133,033,726 (GRCm39) |
I1577V |
probably benign |
Het |
| Pkp3 |
C |
T |
7: 140,663,989 (GRCm39) |
P389S |
probably damaging |
Het |
| Ppp4r2 |
T |
A |
6: 100,841,706 (GRCm39) |
Y92* |
probably null |
Het |
| Rnf13 |
T |
C |
3: 57,714,508 (GRCm39) |
I189T |
probably benign |
Het |
| Serpinf2 |
T |
C |
11: 75,328,871 (GRCm39) |
D53G |
probably benign |
Het |
| Sned1 |
T |
C |
1: 93,210,936 (GRCm39) |
I1008T |
probably benign |
Het |
| Sorcs3 |
A |
T |
19: 48,784,814 (GRCm39) |
E1079V |
probably damaging |
Het |
| Trappc8 |
G |
A |
18: 20,999,176 (GRCm39) |
S318L |
probably benign |
Het |
| Trappc9 |
A |
G |
15: 72,462,002 (GRCm39) |
S909P |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,560,483 (GRCm39) |
T29306I |
probably damaging |
Het |
| Twnk |
G |
A |
19: 45,000,090 (GRCm39) |
R602Q |
possibly damaging |
Het |
| Vmn2r15 |
A |
T |
5: 109,441,075 (GRCm39) |
I261K |
probably damaging |
Het |
| Vmn2r77 |
G |
A |
7: 86,461,124 (GRCm39) |
A817T |
probably damaging |
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 |
|
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 |
|
IGL03286:Slc47a2
|
APN |
11 |
61,233,293 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
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 |
2013-10-07 |
Incidental Mutation