Incidental Mutation 'R0422:Slc22a16'
| ID |
37134 |
| 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 |
038624-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.087)
|
| Stock # |
R0422 (G1)
|
| Quality Score |
213 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
40446332-40480128 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 40467886 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 473
(V473E)
|
| 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: V494E
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000019978
Gene: ENSMUSG00000019834
AA Change: V494E
| 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: V473E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000077428
Gene: ENSMUSG00000019834
AA Change: V473E
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.6%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm3 |
T |
A |
7: 119,372,963 (GRCm39) |
Y155* |
probably null |
Het |
| Adamts16 |
A |
G |
13: 70,887,074 (GRCm39) |
C937R |
probably damaging |
Het |
| Akna |
T |
C |
4: 63,310,391 (GRCm39) |
D451G |
probably damaging |
Het |
| Alox12 |
A |
T |
11: 70,145,384 (GRCm39) |
V63E |
probably damaging |
Het |
| Ap3b1 |
T |
C |
13: 94,598,968 (GRCm39) |
I514T |
probably damaging |
Het |
| Arhgap23 |
T |
C |
11: 97,354,478 (GRCm39) |
M286T |
probably damaging |
Het |
| Cdkl2 |
T |
C |
5: 92,168,171 (GRCm39) |
D341G |
probably benign |
Het |
| Clip2 |
T |
C |
5: 134,526,967 (GRCm39) |
D813G |
probably benign |
Het |
| Cntnap3 |
A |
G |
13: 64,905,099 (GRCm39) |
V894A |
probably damaging |
Het |
| Coro2b |
T |
A |
9: 62,335,259 (GRCm39) |
Y304F |
probably benign |
Het |
| Dclre1a |
T |
A |
19: 56,532,567 (GRCm39) |
K676* |
probably null |
Het |
| Dmxl2 |
A |
G |
9: 54,307,224 (GRCm39) |
|
probably null |
Het |
| Dpep3 |
A |
G |
8: 106,702,750 (GRCm39) |
|
probably null |
Het |
| Efna5 |
C |
T |
17: 62,914,414 (GRCm39) |
A177T |
probably benign |
Het |
| Fabp1 |
G |
A |
6: 71,180,077 (GRCm39) |
V83I |
possibly damaging |
Het |
| H2-DMa |
G |
T |
17: 34,356,921 (GRCm39) |
G140C |
probably damaging |
Het |
| Hectd4 |
T |
A |
5: 121,481,145 (GRCm39) |
|
probably null |
Het |
| Hyou1 |
T |
A |
9: 44,300,539 (GRCm39) |
N869K |
probably damaging |
Het |
| Ing1 |
G |
A |
8: 11,611,933 (GRCm39) |
V124I |
probably damaging |
Het |
| Kalrn |
T |
A |
16: 34,134,643 (GRCm39) |
I380F |
probably damaging |
Het |
| Kcnh1 |
A |
G |
1: 192,019,888 (GRCm39) |
I378V |
probably benign |
Het |
| Kmt2c |
A |
G |
5: 25,520,662 (GRCm39) |
V1816A |
probably benign |
Het |
| Matn2 |
G |
A |
15: 34,435,917 (GRCm39) |
|
probably null |
Het |
| Naip2 |
C |
T |
13: 100,297,621 (GRCm39) |
S805N |
probably benign |
Het |
| Napsa |
A |
C |
7: 44,234,530 (GRCm39) |
Q254P |
probably damaging |
Het |
| Nat10 |
G |
T |
2: 103,557,074 (GRCm39) |
S860* |
probably null |
Het |
| Nipbl |
T |
C |
15: 8,381,112 (GRCm39) |
D560G |
probably benign |
Het |
| Nr3c2 |
A |
G |
8: 77,912,596 (GRCm39) |
M736V |
probably benign |
Het |
| Or4k44 |
A |
T |
2: 111,368,328 (GRCm39) |
F102Y |
probably damaging |
Het |
| Or7e174 |
A |
T |
9: 20,012,744 (GRCm39) |
R230* |
probably null |
Het |
| Or8u8 |
A |
T |
2: 86,011,566 (GRCm39) |
D296E |
probably benign |
Het |
| Palm3 |
A |
G |
8: 84,755,492 (GRCm39) |
S335G |
possibly damaging |
Het |
| Panx1 |
G |
T |
9: 14,919,112 (GRCm39) |
S249* |
probably null |
Het |
| Parvb |
A |
G |
15: 84,179,812 (GRCm39) |
T231A |
probably benign |
Het |
| Pcdhb11 |
G |
T |
18: 37,554,923 (GRCm39) |
L84F |
probably damaging |
Het |
| Pi4k2b |
T |
C |
5: 52,925,096 (GRCm39) |
*447Q |
probably null |
Het |
| Ppp1r1a |
A |
G |
15: 103,440,783 (GRCm39) |
S125P |
probably benign |
Het |
| Prss1 |
T |
A |
6: 41,440,246 (GRCm39) |
D194E |
probably damaging |
Het |
| Rnf216 |
A |
T |
5: 143,001,409 (GRCm39) |
C772* |
probably null |
Het |
| Rnf216 |
A |
T |
5: 143,076,125 (GRCm39) |
F253Y |
probably benign |
Het |
| Rsf1 |
A |
T |
7: 97,330,024 (GRCm39) |
E1183D |
probably benign |
Het |
| Rusc1 |
T |
C |
3: 88,994,132 (GRCm39) |
T958A |
probably benign |
Het |
| Rxfp1 |
A |
G |
3: 79,558,038 (GRCm39) |
M480T |
probably benign |
Het |
| Slc26a3 |
A |
G |
12: 31,515,848 (GRCm39) |
T583A |
possibly damaging |
Het |
| Slc7a15 |
T |
C |
12: 8,584,400 (GRCm39) |
T117A |
probably benign |
Het |
| Slitrk6 |
A |
T |
14: 110,987,364 (GRCm39) |
L781H |
probably damaging |
Het |
| Slitrk6 |
T |
A |
14: 110,989,725 (GRCm39) |
|
probably benign |
Het |
| Spata31g1 |
T |
C |
4: 42,972,199 (GRCm39) |
S511P |
possibly damaging |
Het |
| Spata7 |
A |
G |
12: 98,624,524 (GRCm39) |
Y110C |
probably damaging |
Het |
| Supt16 |
T |
A |
14: 52,421,453 (GRCm39) |
I31F |
probably benign |
Het |
| Taar7a |
T |
C |
10: 23,869,172 (GRCm39) |
T70A |
probably benign |
Het |
| Top2a |
A |
G |
11: 98,900,679 (GRCm39) |
F594L |
probably damaging |
Het |
| Unc13d |
C |
T |
11: 115,960,846 (GRCm39) |
|
probably null |
Het |
| Unc80 |
T |
G |
1: 66,522,497 (GRCm39) |
V233G |
probably damaging |
Het |
| Wdr91 |
A |
T |
6: 34,857,781 (GRCm39) |
D735E |
probably damaging |
Het |
| Zzef1 |
A |
G |
11: 72,756,917 (GRCm39) |
T1141A |
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 |
|
|
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'- AAATGCACGCTTTGCTTTGAGGG -3'
(R):5'- TCTAGACTGGAGACCATGATACCAACC -3'
Sequencing Primer
(F):5'- CTCACACATGCCTGTTGAATAAGG -3'
(R):5'- Tacacacacacacacacacac -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation