Incidental Mutation 'IGL01389:Slc22a21'
ID |
79135 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Slc22a21
|
Ensembl Gene |
ENSMUSG00000063652 |
Gene Name |
solute carrier family 22 (organic cation transporter), member 21 |
Synonyms |
Octn3, Slc22a9 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01389
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
53840791-53871158 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 53870407 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 93
(S93P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123180
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020586]
[ENSMUST00000076493]
[ENSMUST00000124221]
|
AlphaFold |
Q9WTN6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020586
|
SMART Domains |
Protein: ENSMUSP00000020586 Gene: ENSMUSG00000020334
Domain | Start | End | E-Value | Type |
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
Pfam:Sugar_tr
|
60 |
524 |
2.7e-30 |
PFAM |
Pfam:MFS_1
|
139 |
478 |
1.7e-23 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000076493
AA Change: S93P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000075814 Gene: ENSMUSG00000063652 AA Change: S93P
Domain | Start | End | E-Value | Type |
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
Pfam:Sugar_tr
|
74 |
527 |
3.1e-31 |
PFAM |
Pfam:MFS_1
|
139 |
376 |
3e-13 |
PFAM |
low complexity region
|
528 |
542 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000124221
AA Change: S93P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000123180 Gene: ENSMUSG00000063652 AA Change: S93P
Domain | Start | End | E-Value | Type |
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit no detectable phenotypic abnormalities. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ccdc163 |
T |
C |
4: 116,568,503 (GRCm39) |
|
probably benign |
Het |
Ceacam5 |
T |
G |
7: 17,481,300 (GRCm39) |
V349G |
probably damaging |
Het |
Ces2e |
T |
A |
8: 105,656,197 (GRCm39) |
D169E |
probably benign |
Het |
Cfh |
G |
T |
1: 140,082,377 (GRCm39) |
T150K |
probably benign |
Het |
Chrd |
A |
G |
16: 20,559,975 (GRCm39) |
M859V |
possibly damaging |
Het |
Clca3a2 |
C |
T |
3: 144,783,629 (GRCm39) |
|
probably null |
Het |
Crocc |
T |
C |
4: 140,749,423 (GRCm39) |
E1536G |
probably damaging |
Het |
Dhx57 |
A |
G |
17: 80,588,652 (GRCm39) |
V67A |
probably benign |
Het |
Dock11 |
T |
C |
X: 35,256,701 (GRCm39) |
V576A |
probably benign |
Het |
Ighv1-85 |
A |
G |
12: 115,963,671 (GRCm39) |
S110P |
probably damaging |
Het |
Lyg1 |
G |
A |
1: 37,989,011 (GRCm39) |
P70S |
probably damaging |
Het |
Numbl |
T |
G |
7: 26,980,472 (GRCm39) |
F485V |
possibly damaging |
Het |
Or4x6 |
A |
T |
2: 89,949,412 (GRCm39) |
C177S |
probably damaging |
Het |
Pclo |
A |
G |
5: 14,764,535 (GRCm39) |
E1051G |
probably damaging |
Het |
Pdzd2 |
T |
C |
15: 12,374,712 (GRCm39) |
S1808G |
possibly damaging |
Het |
Rad51b |
T |
A |
12: 79,349,327 (GRCm39) |
H54Q |
probably benign |
Het |
Rbbp7 |
T |
C |
X: 161,552,939 (GRCm39) |
|
probably benign |
Het |
Rhbdl2 |
G |
T |
4: 123,723,450 (GRCm39) |
V285L |
probably benign |
Het |
Slc22a16 |
T |
A |
10: 40,461,131 (GRCm39) |
M311K |
probably damaging |
Het |
Stt3b |
T |
C |
9: 115,082,968 (GRCm39) |
E488G |
probably benign |
Het |
Tas2r108 |
A |
G |
6: 40,470,866 (GRCm39) |
H114R |
possibly damaging |
Het |
Tcaim |
A |
G |
9: 122,643,627 (GRCm39) |
E109G |
possibly damaging |
Het |
Tsc22d2 |
A |
G |
3: 58,323,659 (GRCm39) |
T184A |
probably damaging |
Het |
Vmn2r2 |
G |
T |
3: 64,024,430 (GRCm39) |
T717N |
probably damaging |
Het |
Vps25 |
C |
T |
11: 101,144,861 (GRCm39) |
Q20* |
probably null |
Het |
Xiap |
T |
C |
X: 41,183,429 (GRCm39) |
F52L |
probably damaging |
Het |
|
Other mutations in Slc22a21 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0025:Slc22a21
|
UTSW |
11 |
53,870,514 (GRCm39) |
missense |
probably damaging |
1.00 |
R0104:Slc22a21
|
UTSW |
11 |
53,842,635 (GRCm39) |
missense |
probably null |
0.88 |
R0285:Slc22a21
|
UTSW |
11 |
53,850,022 (GRCm39) |
splice site |
probably benign |
|
R0562:Slc22a21
|
UTSW |
11 |
53,870,446 (GRCm39) |
nonsense |
probably null |
|
R0569:Slc22a21
|
UTSW |
11 |
53,842,636 (GRCm39) |
missense |
probably benign |
0.00 |
R1237:Slc22a21
|
UTSW |
11 |
53,870,598 (GRCm39) |
missense |
probably benign |
0.36 |
R2131:Slc22a21
|
UTSW |
11 |
53,870,559 (GRCm39) |
missense |
probably damaging |
1.00 |
R2327:Slc22a21
|
UTSW |
11 |
53,842,130 (GRCm39) |
missense |
probably benign |
0.25 |
R2991:Slc22a21
|
UTSW |
11 |
53,850,195 (GRCm39) |
missense |
probably damaging |
1.00 |
R4209:Slc22a21
|
UTSW |
11 |
53,846,881 (GRCm39) |
missense |
probably benign |
0.00 |
R4290:Slc22a21
|
UTSW |
11 |
53,860,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R4291:Slc22a21
|
UTSW |
11 |
53,860,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R4292:Slc22a21
|
UTSW |
11 |
53,860,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R4294:Slc22a21
|
UTSW |
11 |
53,860,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R4295:Slc22a21
|
UTSW |
11 |
53,860,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R4470:Slc22a21
|
UTSW |
11 |
53,846,839 (GRCm39) |
missense |
probably benign |
0.00 |
R5194:Slc22a21
|
UTSW |
11 |
53,870,673 (GRCm39) |
missense |
probably damaging |
1.00 |
R5214:Slc22a21
|
UTSW |
11 |
53,843,869 (GRCm39) |
missense |
probably damaging |
0.99 |
R5698:Slc22a21
|
UTSW |
11 |
53,842,175 (GRCm39) |
missense |
probably benign |
0.04 |
R6169:Slc22a21
|
UTSW |
11 |
53,848,913 (GRCm39) |
missense |
probably damaging |
1.00 |
R6200:Slc22a21
|
UTSW |
11 |
53,848,864 (GRCm39) |
missense |
probably damaging |
1.00 |
R6767:Slc22a21
|
UTSW |
11 |
53,870,328 (GRCm39) |
missense |
probably damaging |
1.00 |
R6845:Slc22a21
|
UTSW |
11 |
53,870,466 (GRCm39) |
missense |
probably benign |
0.01 |
R7109:Slc22a21
|
UTSW |
11 |
53,870,329 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7402:Slc22a21
|
UTSW |
11 |
53,851,226 (GRCm39) |
missense |
probably benign |
0.00 |
R8515:Slc22a21
|
UTSW |
11 |
53,846,904 (GRCm39) |
missense |
possibly damaging |
0.64 |
R8669:Slc22a21
|
UTSW |
11 |
53,870,643 (GRCm39) |
nonsense |
probably null |
|
R8911:Slc22a21
|
UTSW |
11 |
53,846,809 (GRCm39) |
critical splice donor site |
probably null |
|
R8973:Slc22a21
|
UTSW |
11 |
53,860,402 (GRCm39) |
missense |
probably damaging |
1.00 |
R9601:Slc22a21
|
UTSW |
11 |
53,850,051 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9707:Slc22a21
|
UTSW |
11 |
53,851,186 (GRCm39) |
missense |
probably benign |
0.00 |
R9743:Slc22a21
|
UTSW |
11 |
53,842,575 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2013-11-05 |