Incidental Mutation 'R6675:Slc22a16'
| ID |
527251 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
R6675 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
40446332-40480128 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 40449836 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 91
(Q91*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077428
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019978]
[ENSMUST00000078314]
|
| AlphaFold |
Q497L8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000019978
AA Change: Q112*
|
| SMART Domains |
Protein: ENSMUSP00000019978
Gene: ENSMUSG00000019834
AA Change: Q112*
| 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
AA Change: Q91*
|
| SMART Domains |
Protein: ENSMUSP00000077428
Gene: ENSMUSG00000019834
AA Change: Q91*
| 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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.3%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
C |
11: 110,006,302 (GRCm39) |
T1268A |
probably benign |
Het |
| Adamts20 |
A |
G |
15: 94,229,197 (GRCm39) |
|
probably null |
Het |
| Arhgap45 |
G |
T |
10: 79,853,938 (GRCm39) |
D151Y |
probably null |
Het |
| Arhgef40 |
C |
A |
14: 52,229,098 (GRCm39) |
L592I |
probably damaging |
Het |
| Ascc3 |
G |
T |
10: 50,626,659 (GRCm39) |
E1720* |
probably null |
Het |
| Atp2c1 |
C |
T |
9: 105,330,732 (GRCm39) |
|
probably null |
Het |
| Avpi1 |
G |
A |
19: 42,112,183 (GRCm39) |
P125L |
probably benign |
Het |
| Cers3 |
A |
T |
7: 66,435,844 (GRCm39) |
T232S |
possibly damaging |
Het |
| Cfap53 |
T |
C |
18: 74,440,447 (GRCm39) |
|
probably null |
Het |
| Col4a3 |
T |
C |
1: 82,646,646 (GRCm39) |
S386P |
unknown |
Het |
| Dhtkd1 |
A |
T |
2: 5,908,889 (GRCm39) |
M735K |
probably damaging |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Gad2 |
T |
C |
2: 22,563,997 (GRCm39) |
V400A |
possibly damaging |
Het |
| Gm10801 |
TC |
TCGCC |
2: 98,494,151 (GRCm39) |
|
probably benign |
Het |
| Hmgxb3 |
T |
G |
18: 61,270,648 (GRCm39) |
D892A |
possibly damaging |
Het |
| Hsd3b2 |
G |
A |
3: 98,620,788 (GRCm39) |
T89I |
probably benign |
Het |
| Iars1 |
C |
A |
13: 49,873,054 (GRCm39) |
A713D |
probably damaging |
Het |
| Itih1 |
G |
A |
14: 30,651,798 (GRCm39) |
T848I |
possibly damaging |
Het |
| Kcne2 |
A |
G |
16: 92,093,512 (GRCm39) |
D13G |
probably benign |
Het |
| Klra17 |
T |
A |
6: 129,849,286 (GRCm39) |
N96I |
probably damaging |
Het |
| Lrig2 |
T |
C |
3: 104,365,251 (GRCm39) |
N634D |
probably benign |
Het |
| Mrc2 |
T |
A |
11: 105,233,906 (GRCm39) |
|
probably null |
Het |
| Mroh3 |
A |
T |
1: 136,118,550 (GRCm39) |
S558T |
possibly damaging |
Het |
| Ncapg2 |
G |
T |
12: 116,398,281 (GRCm39) |
K627N |
possibly damaging |
Het |
| Ncstn |
A |
T |
1: 171,899,095 (GRCm39) |
D345E |
probably damaging |
Het |
| Nkx1-1 |
G |
T |
5: 33,591,223 (GRCm39) |
A33E |
unknown |
Het |
| Or2n1 |
T |
A |
17: 38,486,905 (GRCm39) |
M310K |
probably benign |
Het |
| Or51f2 |
A |
G |
7: 102,526,480 (GRCm39) |
E51G |
possibly damaging |
Het |
| Osbpl9 |
G |
T |
4: 108,991,025 (GRCm39) |
|
probably null |
Het |
| P2rx6 |
T |
C |
16: 17,380,032 (GRCm39) |
V52A |
probably benign |
Het |
| Pcdhgb5 |
C |
T |
18: 37,864,255 (GRCm39) |
L17F |
probably damaging |
Het |
| Pdk2 |
T |
C |
11: 94,919,568 (GRCm39) |
I273V |
probably benign |
Het |
| Pdpr |
C |
T |
8: 111,828,532 (GRCm39) |
Q12* |
probably null |
Het |
| Plxdc2 |
A |
G |
2: 16,716,932 (GRCm39) |
T339A |
probably benign |
Het |
| Pramel27 |
G |
A |
4: 143,579,828 (GRCm39) |
C471Y |
probably damaging |
Het |
| Retsat |
T |
C |
6: 72,578,672 (GRCm39) |
V128A |
probably benign |
Het |
| Rnf17 |
A |
G |
14: 56,697,432 (GRCm39) |
E442G |
probably damaging |
Het |
| Sec31b |
T |
C |
19: 44,512,214 (GRCm39) |
N560S |
probably benign |
Het |
| Slc24a5 |
G |
T |
2: 124,922,615 (GRCm39) |
A126S |
possibly damaging |
Het |
| Slc26a4 |
A |
T |
12: 31,590,512 (GRCm39) |
D380E |
possibly damaging |
Het |
| Stc2 |
T |
A |
11: 31,310,307 (GRCm39) |
D243V |
probably benign |
Het |
| Tshz2 |
G |
T |
2: 169,727,965 (GRCm39) |
A385S |
probably damaging |
Het |
| Vmn1r113 |
G |
A |
7: 20,521,903 (GRCm39) |
G232S |
probably benign |
Het |
| Vmn1r77 |
A |
G |
7: 11,775,382 (GRCm39) |
T53A |
probably damaging |
Het |
| Zeb2 |
A |
T |
2: 44,887,457 (GRCm39) |
Y518* |
probably null |
Het |
| Zfp760 |
T |
A |
17: 21,941,991 (GRCm39) |
S389T |
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 |
|
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 |
|
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'- GATATGTGCCTACCAGAGCC -3'
(R):5'- GCTGGATCATTCTTGCATACC -3'
Sequencing Primer
(F):5'- ACCAGAGCCTCTCTTGTGG -3'
(R):5'- TTGCATACCATTTCTGATCACAG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation