Incidental Mutation 'IGL01792:Slc22a16'
| ID |
155249 |
| 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 # |
IGL01792
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
40446332-40480128 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 40449928 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 121
(H121Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077428
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019978]
[ENSMUST00000078314]
|
| AlphaFold |
Q497L8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000019978
AA Change: H142Q
PolyPhen 2
Score 0.459 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000019978
Gene: ENSMUSG00000019834
AA Change: H142Q
| 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 |
possibly damaging
Transcript: ENSMUST00000078314
AA Change: H121Q
PolyPhen 2
Score 0.515 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000077428
Gene: ENSMUSG00000019834
AA Change: H121Q
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9830107B12Rik |
G |
T |
17: 48,452,680 (GRCm39) |
F86L |
probably damaging |
Het |
| A2ml1 |
T |
C |
6: 128,537,642 (GRCm39) |
T690A |
probably benign |
Het |
| Adam3 |
T |
C |
8: 25,187,219 (GRCm39) |
N424S |
probably benign |
Het |
| Adarb2 |
T |
C |
13: 8,620,185 (GRCm39) |
F224L |
probably damaging |
Het |
| Clcn3 |
T |
C |
8: 61,382,356 (GRCm39) |
T438A |
probably damaging |
Het |
| Cyp2c55 |
A |
G |
19: 39,030,631 (GRCm39) |
I488V |
probably benign |
Het |
| Dennd1a |
A |
G |
2: 38,016,592 (GRCm39) |
F84S |
probably damaging |
Het |
| Dennd4b |
A |
G |
3: 90,187,152 (GRCm39) |
R1475G |
probably damaging |
Het |
| Ift172 |
G |
A |
5: 31,434,215 (GRCm39) |
R508W |
probably damaging |
Het |
| Khdrbs2 |
C |
T |
1: 32,696,548 (GRCm39) |
R326C |
probably damaging |
Het |
| Krt78 |
T |
G |
15: 101,855,085 (GRCm39) |
M909L |
probably benign |
Het |
| Ncapg2 |
T |
A |
12: 116,389,438 (GRCm39) |
F353I |
probably damaging |
Het |
| Or10d4c |
A |
T |
9: 39,558,955 (GRCm39) |
N311I |
probably benign |
Het |
| Pigb |
A |
T |
9: 72,925,268 (GRCm39) |
H396Q |
probably damaging |
Het |
| Rev3l |
C |
T |
10: 39,699,336 (GRCm39) |
P1278S |
probably benign |
Het |
| Setd1b |
T |
A |
5: 123,295,209 (GRCm39) |
V955D |
unknown |
Het |
| Slc22a29 |
A |
T |
19: 8,195,893 (GRCm39) |
C49S |
probably damaging |
Het |
| Smad1 |
T |
C |
8: 80,098,752 (GRCm39) |
K21E |
probably damaging |
Het |
| Speer4c2 |
C |
A |
5: 15,861,884 (GRCm39) |
|
probably benign |
Het |
| Spic |
A |
G |
10: 88,515,807 (GRCm39) |
I5T |
possibly damaging |
Het |
| Srpk1 |
G |
A |
17: 28,818,441 (GRCm39) |
|
probably benign |
Het |
| Tubgcp6 |
T |
C |
15: 88,985,484 (GRCm39) |
D1559G |
probably damaging |
Het |
| Unc13b |
T |
C |
4: 43,250,218 (GRCm39) |
F992L |
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 |
|
IGL01389:Slc22a16
|
APN |
10 |
40,461,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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 |
2014-02-04 |
Incidental Mutation