Incidental Mutation 'IGL01405:Slc22a16'
| ID |
79770 |
| 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 # |
IGL01405
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
40446332-40480128 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 40461191 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 331
(T331M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077428
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019978]
[ENSMUST00000078314]
|
| AlphaFold |
Q497L8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019978
AA Change: T352M
PolyPhen 2
Score 0.310 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000019978
Gene: ENSMUSG00000019834
AA Change: T352M
| 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 benign
Transcript: ENSMUST00000078314
AA Change: T331M
PolyPhen 2
Score 0.359 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000077428
Gene: ENSMUSG00000019834
AA Change: T331M
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf1 |
G |
A |
17: 36,274,902 (GRCm39) |
R82W |
probably damaging |
Het |
| Atxn7 |
T |
C |
14: 14,100,105 (GRCm38) |
V597A |
probably benign |
Het |
| Bsg |
T |
A |
10: 79,547,348 (GRCm39) |
M205K |
probably benign |
Het |
| Ccdc18 |
T |
C |
5: 108,350,052 (GRCm39) |
|
probably benign |
Het |
| Cdh1 |
T |
C |
8: 107,375,633 (GRCm39) |
V57A |
probably damaging |
Het |
| Ddost |
A |
G |
4: 138,039,014 (GRCm39) |
D378G |
probably damaging |
Het |
| Depdc5 |
A |
G |
5: 33,095,033 (GRCm39) |
E779G |
possibly damaging |
Het |
| Elp5 |
T |
C |
11: 69,859,962 (GRCm39) |
R250G |
probably damaging |
Het |
| Gnb1 |
A |
G |
4: 155,627,645 (GRCm39) |
H142R |
probably damaging |
Het |
| Ift172 |
G |
T |
5: 31,419,196 (GRCm39) |
Y1148* |
probably null |
Het |
| Kif5a |
T |
C |
10: 127,081,859 (GRCm39) |
N153S |
probably damaging |
Het |
| Malrd1 |
G |
A |
2: 16,106,768 (GRCm39) |
|
probably null |
Het |
| Man2a2 |
T |
A |
7: 80,010,682 (GRCm39) |
M770L |
probably benign |
Het |
| Msh2 |
T |
C |
17: 87,985,663 (GRCm39) |
L80P |
probably damaging |
Het |
| Naip5 |
A |
T |
13: 100,358,453 (GRCm39) |
S928T |
probably benign |
Het |
| Or7g35 |
T |
A |
9: 19,496,501 (GRCm39) |
S223T |
probably benign |
Het |
| Pla2g4d |
T |
C |
2: 120,097,304 (GRCm39) |
N765S |
probably benign |
Het |
| Plcb4 |
C |
T |
2: 135,792,267 (GRCm39) |
T330I |
probably damaging |
Het |
| Ppp3ca |
A |
G |
3: 136,574,482 (GRCm39) |
I127V |
probably benign |
Het |
| Rapgef5 |
C |
A |
12: 117,685,115 (GRCm39) |
T320K |
probably benign |
Het |
| Rbfa |
A |
G |
18: 80,236,080 (GRCm39) |
V223A |
probably benign |
Het |
| Rfx7 |
A |
G |
9: 72,517,626 (GRCm39) |
M187V |
probably benign |
Het |
| Ric1 |
T |
C |
19: 29,544,770 (GRCm39) |
|
probably benign |
Het |
| Slc34a1 |
T |
C |
13: 55,559,941 (GRCm39) |
S303P |
probably damaging |
Het |
| Slfn3 |
T |
C |
11: 83,105,542 (GRCm39) |
V513A |
possibly damaging |
Het |
| Tbce |
A |
T |
13: 14,178,280 (GRCm39) |
I370N |
probably damaging |
Het |
| Zfp358 |
G |
A |
8: 3,545,663 (GRCm39) |
D109N |
probably benign |
Het |
| Zfp523 |
T |
C |
17: 28,423,480 (GRCm39) |
S152P |
probably damaging |
Het |
| Zfp961 |
A |
G |
8: 72,721,778 (GRCm39) |
N78S |
possibly 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 |
|
IGL01389:Slc22a16
|
APN |
10 |
40,461,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
Incidental Mutation