Incidental Mutation 'IGL01389:Slc22a16'
ID |
79143 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Slc22a16
|
Ensembl Gene |
ENSMUSG00000019834 |
Gene Name |
solute carrier family 22 (organic cation transporter), member 16 |
Synonyms |
OCT6, 4921504E14Rik, OKB1, FLIPT2, CT2 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.087)
|
Stock # |
IGL01389
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
40446332-40480128 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 40461131 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 311
(M311K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000077428
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019978]
[ENSMUST00000078314]
|
AlphaFold |
Q497L8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000019978
AA Change: M332K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000019978 Gene: ENSMUSG00000019834 AA Change: M332K
Domain | Start | End | E-Value | Type |
low complexity region
|
18 |
32 |
N/A |
INTRINSIC |
transmembrane domain
|
38 |
60 |
N/A |
INTRINSIC |
Pfam:Sugar_tr
|
136 |
556 |
6.4e-25 |
PFAM |
Pfam:MFS_1
|
177 |
514 |
3.1e-20 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000078314
AA Change: M311K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000077428 Gene: ENSMUSG00000019834 AA Change: M311K
Domain | Start | End | E-Value | Type |
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
Pfam:Sugar_tr
|
114 |
535 |
5.1e-26 |
PFAM |
Pfam:MFS_1
|
156 |
493 |
4.7e-20 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the organic zwitterion transporter protein family which transports carnitine. The encoded protein has also been shown to transport anticancer drugs like bleomycin (PMID: 20037140) successful treatment has been correlated with the level of activity of this transporter in tumor cells. [provided by RefSeq, Dec 2011]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ccdc163 |
T |
C |
4: 116,568,503 (GRCm39) |
|
probably benign |
Het |
Ceacam5 |
T |
G |
7: 17,481,300 (GRCm39) |
V349G |
probably damaging |
Het |
Ces2e |
T |
A |
8: 105,656,197 (GRCm39) |
D169E |
probably benign |
Het |
Cfh |
G |
T |
1: 140,082,377 (GRCm39) |
T150K |
probably benign |
Het |
Chrd |
A |
G |
16: 20,559,975 (GRCm39) |
M859V |
possibly damaging |
Het |
Clca3a2 |
C |
T |
3: 144,783,629 (GRCm39) |
|
probably null |
Het |
Crocc |
T |
C |
4: 140,749,423 (GRCm39) |
E1536G |
probably damaging |
Het |
Dhx57 |
A |
G |
17: 80,588,652 (GRCm39) |
V67A |
probably benign |
Het |
Dock11 |
T |
C |
X: 35,256,701 (GRCm39) |
V576A |
probably benign |
Het |
Ighv1-85 |
A |
G |
12: 115,963,671 (GRCm39) |
S110P |
probably damaging |
Het |
Lyg1 |
G |
A |
1: 37,989,011 (GRCm39) |
P70S |
probably damaging |
Het |
Numbl |
T |
G |
7: 26,980,472 (GRCm39) |
F485V |
possibly damaging |
Het |
Or4x6 |
A |
T |
2: 89,949,412 (GRCm39) |
C177S |
probably damaging |
Het |
Pclo |
A |
G |
5: 14,764,535 (GRCm39) |
E1051G |
probably damaging |
Het |
Pdzd2 |
T |
C |
15: 12,374,712 (GRCm39) |
S1808G |
possibly damaging |
Het |
Rad51b |
T |
A |
12: 79,349,327 (GRCm39) |
H54Q |
probably benign |
Het |
Rbbp7 |
T |
C |
X: 161,552,939 (GRCm39) |
|
probably benign |
Het |
Rhbdl2 |
G |
T |
4: 123,723,450 (GRCm39) |
V285L |
probably benign |
Het |
Slc22a21 |
A |
G |
11: 53,870,407 (GRCm39) |
S93P |
probably damaging |
Het |
Stt3b |
T |
C |
9: 115,082,968 (GRCm39) |
E488G |
probably benign |
Het |
Tas2r108 |
A |
G |
6: 40,470,866 (GRCm39) |
H114R |
possibly damaging |
Het |
Tcaim |
A |
G |
9: 122,643,627 (GRCm39) |
E109G |
possibly damaging |
Het |
Tsc22d2 |
A |
G |
3: 58,323,659 (GRCm39) |
T184A |
probably damaging |
Het |
Vmn2r2 |
G |
T |
3: 64,024,430 (GRCm39) |
T717N |
probably damaging |
Het |
Vps25 |
C |
T |
11: 101,144,861 (GRCm39) |
Q20* |
probably null |
Het |
Xiap |
T |
C |
X: 41,183,429 (GRCm39) |
F52L |
probably damaging |
Het |
|
Other mutations in Slc22a16 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00158:Slc22a16
|
APN |
10 |
40,471,278 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00334:Slc22a16
|
APN |
10 |
40,449,930 (GRCm39) |
missense |
probably benign |
0.03 |
IGL00757:Slc22a16
|
APN |
10 |
40,457,323 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01082:Slc22a16
|
APN |
10 |
40,449,860 (GRCm39) |
missense |
probably benign |
0.40 |
IGL01337:Slc22a16
|
APN |
10 |
40,471,310 (GRCm39) |
missense |
possibly damaging |
0.51 |
IGL01405:Slc22a16
|
APN |
10 |
40,461,191 (GRCm39) |
missense |
probably benign |
0.36 |
IGL01667:Slc22a16
|
APN |
10 |
40,461,014 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01700:Slc22a16
|
APN |
10 |
40,479,904 (GRCm39) |
missense |
unknown |
|
IGL01792:Slc22a16
|
APN |
10 |
40,449,928 (GRCm39) |
missense |
possibly damaging |
0.51 |
IGL02948:Slc22a16
|
APN |
10 |
40,449,958 (GRCm39) |
nonsense |
probably null |
|
IGL03178:Slc22a16
|
APN |
10 |
40,449,756 (GRCm39) |
missense |
probably benign |
0.09 |
PIT4418001:Slc22a16
|
UTSW |
10 |
40,479,821 (GRCm39) |
missense |
unknown |
|
R0358:Slc22a16
|
UTSW |
10 |
40,463,488 (GRCm39) |
splice site |
probably null |
|
R0422:Slc22a16
|
UTSW |
10 |
40,467,886 (GRCm39) |
missense |
probably damaging |
1.00 |
R0497:Slc22a16
|
UTSW |
10 |
40,460,963 (GRCm39) |
missense |
probably damaging |
1.00 |
R1435:Slc22a16
|
UTSW |
10 |
40,463,603 (GRCm39) |
missense |
probably damaging |
1.00 |
R1577:Slc22a16
|
UTSW |
10 |
40,479,811 (GRCm39) |
nonsense |
probably null |
|
R1696:Slc22a16
|
UTSW |
10 |
40,460,923 (GRCm39) |
missense |
possibly damaging |
0.75 |
R2022:Slc22a16
|
UTSW |
10 |
40,467,873 (GRCm39) |
missense |
probably damaging |
1.00 |
R2065:Slc22a16
|
UTSW |
10 |
40,461,016 (GRCm39) |
missense |
possibly damaging |
0.63 |
R2082:Slc22a16
|
UTSW |
10 |
40,461,335 (GRCm39) |
missense |
probably benign |
0.02 |
R4083:Slc22a16
|
UTSW |
10 |
40,450,065 (GRCm39) |
missense |
probably damaging |
1.00 |
R4588:Slc22a16
|
UTSW |
10 |
40,446,677 (GRCm39) |
intron |
probably benign |
|
R4828:Slc22a16
|
UTSW |
10 |
40,449,636 (GRCm39) |
missense |
probably damaging |
1.00 |
R4853:Slc22a16
|
UTSW |
10 |
40,450,047 (GRCm39) |
missense |
probably damaging |
0.98 |
R5127:Slc22a16
|
UTSW |
10 |
40,449,953 (GRCm39) |
missense |
probably benign |
0.21 |
R5215:Slc22a16
|
UTSW |
10 |
40,457,386 (GRCm39) |
missense |
probably damaging |
1.00 |
R5590:Slc22a16
|
UTSW |
10 |
40,457,337 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5626:Slc22a16
|
UTSW |
10 |
40,460,849 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5810:Slc22a16
|
UTSW |
10 |
40,471,314 (GRCm39) |
missense |
possibly damaging |
0.86 |
R6675:Slc22a16
|
UTSW |
10 |
40,449,836 (GRCm39) |
nonsense |
probably null |
|
R6692:Slc22a16
|
UTSW |
10 |
40,479,901 (GRCm39) |
missense |
unknown |
|
R6738:Slc22a16
|
UTSW |
10 |
40,461,298 (GRCm39) |
missense |
probably damaging |
0.99 |
R7158:Slc22a16
|
UTSW |
10 |
40,449,737 (GRCm39) |
missense |
possibly damaging |
0.66 |
R7685:Slc22a16
|
UTSW |
10 |
40,450,085 (GRCm39) |
missense |
possibly damaging |
0.73 |
R7883:Slc22a16
|
UTSW |
10 |
40,479,660 (GRCm39) |
missense |
probably benign |
0.01 |
R8332:Slc22a16
|
UTSW |
10 |
40,449,741 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8733:Slc22a16
|
UTSW |
10 |
40,450,061 (GRCm39) |
missense |
probably benign |
0.16 |
R9321:Slc22a16
|
UTSW |
10 |
40,450,047 (GRCm39) |
missense |
probably damaging |
0.98 |
R9548:Slc22a16
|
UTSW |
10 |
40,460,865 (GRCm39) |
nonsense |
probably null |
|
R9667:Slc22a16
|
UTSW |
10 |
40,461,125 (GRCm39) |
missense |
probably benign |
0.37 |
RF004:Slc22a16
|
UTSW |
10 |
40,479,642 (GRCm39) |
missense |
possibly damaging |
0.94 |
Z1177:Slc22a16
|
UTSW |
10 |
40,461,152 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2013-11-05 |