Incidental Mutation 'R0358:Slc22a16'
ID |
29947 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc22a16
|
Ensembl Gene |
ENSMUSG00000019834 |
Gene Name |
solute carrier family 22 (organic cation transporter), member 16 |
Synonyms |
OCT6, 4921504E14Rik, OKB1, FLIPT2, CT2 |
MMRRC Submission |
038564-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.093)
|
Stock # |
R0358 (G1)
|
Quality Score |
210 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
40446332-40480128 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to G
at 40463488 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000077428
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019978]
[ENSMUST00000078314]
|
AlphaFold |
Q497L8 |
Predicted Effect |
probably null
Transcript: ENSMUST00000019978
|
SMART Domains |
Protein: ENSMUSP00000019978 Gene: ENSMUSG00000019834
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 null
Transcript: ENSMUST00000078314
|
SMART Domains |
Protein: ENSMUSP00000077428 Gene: ENSMUSG00000019834
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 |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 88.5%
|
Validation Efficiency |
100% (64/64) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921513D11Rik |
G |
A |
17: 79,935,585 (GRCm39) |
|
probably benign |
Het |
Abca16 |
A |
T |
7: 120,143,939 (GRCm39) |
K1651N |
probably benign |
Het |
Abcb1b |
T |
C |
5: 8,871,423 (GRCm39) |
S326P |
probably benign |
Het |
Ache |
A |
G |
5: 137,288,635 (GRCm39) |
T114A |
probably benign |
Het |
Akap3 |
T |
A |
6: 126,843,775 (GRCm39) |
V798D |
probably damaging |
Het |
Ankle1 |
A |
G |
8: 71,860,189 (GRCm39) |
T256A |
probably damaging |
Het |
Aqp4 |
T |
C |
18: 15,531,302 (GRCm39) |
N153S |
probably benign |
Het |
Arhgap23 |
G |
A |
11: 97,354,414 (GRCm39) |
V265M |
probably damaging |
Het |
Arhgef25 |
A |
T |
10: 127,020,322 (GRCm39) |
M326K |
probably damaging |
Het |
Atp6v1c2 |
T |
C |
12: 17,334,961 (GRCm39) |
|
probably benign |
Het |
Cars1 |
A |
T |
7: 143,142,219 (GRCm39) |
|
probably benign |
Het |
Cep83 |
A |
T |
10: 94,555,593 (GRCm39) |
M96L |
probably benign |
Het |
Cfap46 |
A |
G |
7: 139,231,449 (GRCm39) |
|
probably benign |
Het |
Cnnm3 |
T |
A |
1: 36,560,303 (GRCm39) |
S608T |
probably damaging |
Het |
Cul7 |
G |
A |
17: 46,974,670 (GRCm39) |
|
probably null |
Het |
Dhrs2 |
G |
A |
14: 55,473,574 (GRCm39) |
V78M |
probably damaging |
Het |
Dhx38 |
A |
T |
8: 110,279,094 (GRCm39) |
D1051E |
probably benign |
Het |
Eftud2 |
A |
G |
11: 102,755,627 (GRCm39) |
|
probably benign |
Het |
Egln3 |
T |
C |
12: 54,250,082 (GRCm39) |
E89G |
possibly damaging |
Het |
Eif2ak4 |
A |
G |
2: 118,294,410 (GRCm39) |
|
probably null |
Het |
Fbxl17 |
G |
A |
17: 63,663,846 (GRCm39) |
R67C |
probably damaging |
Het |
Fsip2 |
A |
T |
2: 82,813,677 (GRCm39) |
N3332I |
possibly damaging |
Het |
Gbp2b |
A |
T |
3: 142,312,550 (GRCm39) |
E311V |
probably damaging |
Het |
Gcnt2 |
G |
T |
13: 41,014,329 (GRCm39) |
A167S |
probably damaging |
Het |
Gm9797 |
A |
T |
10: 11,485,088 (GRCm39) |
|
noncoding transcript |
Het |
Gpatch3 |
A |
G |
4: 133,305,215 (GRCm39) |
|
probably null |
Het |
Gpr22 |
T |
C |
12: 31,759,981 (GRCm39) |
N47S |
probably benign |
Het |
Il18rap |
A |
T |
1: 40,588,202 (GRCm39) |
H600L |
possibly damaging |
Het |
Larp7 |
A |
G |
3: 127,340,737 (GRCm39) |
|
probably null |
Het |
Mep1a |
A |
G |
17: 43,789,841 (GRCm39) |
Y490H |
possibly damaging |
Het |
Mrgprh |
T |
A |
17: 13,096,237 (GRCm39) |
V159D |
probably damaging |
Het |
Mylk |
G |
C |
16: 34,699,845 (GRCm39) |
E403Q |
possibly damaging |
Het |
Nrbp1 |
T |
A |
5: 31,402,231 (GRCm39) |
I64N |
probably damaging |
Het |
Nup214 |
G |
A |
2: 31,894,312 (GRCm39) |
|
probably null |
Het |
Or10d1b |
A |
G |
9: 39,613,297 (GRCm39) |
I256T |
possibly damaging |
Het |
Or13a21 |
G |
T |
7: 139,998,856 (GRCm39) |
L277M |
probably damaging |
Het |
Or2o1 |
T |
A |
11: 49,051,071 (GRCm39) |
C77S |
probably benign |
Het |
Or4k15b |
A |
T |
14: 50,272,743 (GRCm39) |
L39Q |
probably damaging |
Het |
Pef1 |
A |
G |
4: 130,021,180 (GRCm39) |
T245A |
probably damaging |
Het |
Phrf1 |
A |
G |
7: 140,838,217 (GRCm39) |
|
probably benign |
Het |
Ppig |
A |
G |
2: 69,573,942 (GRCm39) |
|
probably benign |
Het |
Ppp1r8 |
G |
T |
4: 132,562,039 (GRCm39) |
F60L |
probably damaging |
Het |
Psmd11 |
G |
A |
11: 80,353,510 (GRCm39) |
|
probably benign |
Het |
Ptk6 |
G |
T |
2: 180,840,315 (GRCm39) |
H230Q |
probably benign |
Het |
Ptprd |
T |
C |
4: 75,863,226 (GRCm39) |
Y1496C |
probably damaging |
Het |
Rhbdl3 |
G |
T |
11: 80,244,457 (GRCm39) |
W388L |
probably damaging |
Het |
Rnf130 |
T |
A |
11: 49,962,109 (GRCm39) |
M185K |
probably benign |
Het |
S100a13 |
A |
T |
3: 90,423,299 (GRCm39) |
I97F |
probably damaging |
Het |
Tcte1 |
A |
T |
17: 45,846,211 (GRCm39) |
T272S |
probably benign |
Het |
Terf1 |
T |
C |
1: 15,876,062 (GRCm39) |
V54A |
possibly damaging |
Het |
Tmem63a |
T |
A |
1: 180,783,988 (GRCm39) |
N189K |
probably benign |
Het |
Trim32 |
G |
A |
4: 65,531,491 (GRCm39) |
R16Q |
probably damaging |
Het |
Trim66 |
G |
A |
7: 109,059,383 (GRCm39) |
Q954* |
probably null |
Het |
Trpv4 |
A |
G |
5: 114,768,493 (GRCm39) |
F525S |
probably damaging |
Het |
Ttll7 |
A |
G |
3: 146,649,871 (GRCm39) |
T634A |
probably benign |
Het |
Tut7 |
T |
C |
13: 59,929,918 (GRCm39) |
D47G |
probably damaging |
Het |
Ush2a |
T |
G |
1: 188,269,977 (GRCm39) |
N1741K |
possibly damaging |
Het |
Wdr87-ps |
A |
T |
7: 29,231,636 (GRCm39) |
|
noncoding transcript |
Het |
Zfp451 |
T |
A |
1: 33,816,810 (GRCm39) |
H163L |
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 |
|
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CAAGCCAGTGAGTTAAAACACGGTG -3'
(R):5'- ACTAAAGTCTTTCCACGAACCTGCC -3'
Sequencing Primer
(F):5'- caaacaaacaaacaaacaaaaaaacC -3'
(R):5'- CACGAACCTGCCACAGC -3'
|
Posted On |
2013-04-24 |