Incidental Mutation 'IGL02813:Slc22a20'
| ID |
360677 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc22a20
|
| Ensembl Gene |
ENSMUSG00000037451 |
| Gene Name |
solute carrier family 22 (organic anion transporter), member 20 |
| Synonyms |
LOC381203, mOAT6 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.289)
|
| Stock # |
IGL02813
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
6020262-6036171 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 6034886 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 192
(V192I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049473
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025891]
[ENSMUST00000041827]
[ENSMUST00000164843]
|
| AlphaFold |
Q80UJ1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025891
|
| SMART Domains |
Protein: ENSMUSP00000025891
Gene: ENSMUSG00000024942
| Domain | Start | End | E-Value | Type |
|---|
|
CysPc
|
37 |
362 |
6.79e-180 |
SMART |
|
calpain_III
|
365 |
521 |
7.38e-94 |
SMART |
|
EFh
|
588 |
616 |
1.13e1 |
SMART |
|
EFh
|
618 |
646 |
2.95e0 |
SMART |
|
EFh
|
683 |
711 |
7.65e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041827
AA Change: V192I
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000049473
Gene: ENSMUSG00000037451
AA Change: V192I
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
42 |
53 |
N/A |
INTRINSIC |
|
Pfam:Sugar_tr
|
100 |
521 |
2.5e-27 |
PFAM |
|
Pfam:MFS_1
|
132 |
475 |
1.6e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164843
|
| SMART Domains |
Protein: ENSMUSP00000127498
Gene: ENSMUSG00000024942
| Domain | Start | End | E-Value | Type |
|---|
|
CysPc
|
37 |
362 |
6.79e-180 |
SMART |
|
calpain_III
|
365 |
521 |
7.38e-94 |
SMART |
|
EFh
|
588 |
616 |
1.13e1 |
SMART |
|
EFh
|
618 |
646 |
2.95e0 |
SMART |
|
EFh
|
683 |
711 |
7.65e1 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy1 |
C |
A |
11: 7,096,591 (GRCm39) |
Q660K |
possibly damaging |
Het |
| Arhgap5 |
A |
C |
12: 52,563,748 (GRCm39) |
T240P |
probably benign |
Het |
| Arhgef7 |
C |
T |
8: 11,850,767 (GRCm39) |
|
probably benign |
Het |
| Cttnbp2 |
C |
A |
6: 18,367,537 (GRCm39) |
V1594F |
possibly damaging |
Het |
| Cyp2a22 |
G |
T |
7: 26,635,859 (GRCm39) |
Q235K |
probably benign |
Het |
| Dennd11 |
C |
T |
6: 40,395,473 (GRCm39) |
V212I |
probably benign |
Het |
| Dynlt5 |
A |
G |
4: 102,849,769 (GRCm39) |
N64S |
probably damaging |
Het |
| Ecm1 |
G |
A |
3: 95,644,098 (GRCm39) |
P169S |
probably damaging |
Het |
| Emilin3 |
G |
A |
2: 160,750,649 (GRCm39) |
Q320* |
probably null |
Het |
| Ern1 |
T |
C |
11: 106,314,251 (GRCm39) |
D183G |
probably damaging |
Het |
| Gpat2 |
T |
C |
2: 127,276,375 (GRCm39) |
V635A |
possibly damaging |
Het |
| Gria1 |
A |
G |
11: 57,174,410 (GRCm39) |
N564S |
probably damaging |
Het |
| Grtp1 |
A |
C |
8: 13,236,945 (GRCm39) |
I173S |
possibly damaging |
Het |
| Hsd17b4 |
A |
G |
18: 50,261,415 (GRCm39) |
|
probably benign |
Het |
| Lrp1b |
T |
C |
2: 40,569,229 (GRCm39) |
|
probably null |
Het |
| Mark4 |
A |
T |
7: 19,181,181 (GRCm39) |
|
probably null |
Het |
| Mphosph9 |
T |
C |
5: 124,453,691 (GRCm39) |
D207G |
probably benign |
Het |
| Mrgprd |
A |
G |
7: 144,875,251 (GRCm39) |
M41V |
probably benign |
Het |
| Myo1g |
T |
C |
11: 6,468,743 (GRCm39) |
*66W |
probably null |
Het |
| Neto2 |
C |
A |
8: 86,417,515 (GRCm39) |
D30Y |
probably benign |
Het |
| Nlrp6 |
A |
T |
7: 140,503,333 (GRCm39) |
I450F |
possibly damaging |
Het |
| Nup155 |
T |
A |
15: 8,159,605 (GRCm39) |
|
probably benign |
Het |
| Or4c11c |
A |
G |
2: 88,661,495 (GRCm39) |
I11M |
probably benign |
Het |
| Pcdhb10 |
T |
G |
18: 37,546,815 (GRCm39) |
S630R |
possibly damaging |
Het |
| Rwdd4a |
T |
C |
8: 47,990,396 (GRCm39) |
|
probably null |
Het |
| Slc12a7 |
T |
A |
13: 73,961,795 (GRCm39) |
|
probably benign |
Het |
| Slc9a2 |
T |
A |
1: 40,781,829 (GRCm39) |
S353T |
probably damaging |
Het |
| Srgap3 |
A |
G |
6: 112,708,441 (GRCm39) |
F753L |
probably damaging |
Het |
| Tcea1 |
C |
T |
1: 4,956,979 (GRCm39) |
T93I |
probably benign |
Het |
| Tecpr2 |
A |
T |
12: 110,899,626 (GRCm39) |
S665C |
probably damaging |
Het |
| Tor4a |
C |
A |
2: 25,084,761 (GRCm39) |
E381* |
probably null |
Het |
| Vdr |
A |
G |
15: 97,767,562 (GRCm39) |
Y143H |
probably benign |
Het |
| Vmn2r91 |
A |
C |
17: 18,356,348 (GRCm39) |
T672P |
possibly damaging |
Het |
| Wdr41 |
A |
G |
13: 95,131,753 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Slc22a20 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00924:Slc22a20
|
APN |
19 |
6,020,544 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL02745:Slc22a20
|
APN |
19 |
6,022,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03384:Slc22a20
|
APN |
19 |
6,030,402 (GRCm39) |
nonsense |
probably null |
|
|
R0309:Slc22a20
|
UTSW |
19 |
6,022,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0762:Slc22a20
|
UTSW |
19 |
6,036,036 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1652:Slc22a20
|
UTSW |
19 |
6,022,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1670:Slc22a20
|
UTSW |
19 |
6,022,876 (GRCm39) |
splice site |
probably benign |
|
|
R1800:Slc22a20
|
UTSW |
19 |
6,035,695 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1923:Slc22a20
|
UTSW |
19 |
6,021,464 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2202:Slc22a20
|
UTSW |
19 |
6,021,553 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4025:Slc22a20
|
UTSW |
19 |
6,035,808 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4495:Slc22a20
|
UTSW |
19 |
6,034,952 (GRCm39) |
missense |
probably benign |
0.27 |
|
R4751:Slc22a20
|
UTSW |
19 |
6,030,488 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6207:Slc22a20
|
UTSW |
19 |
6,035,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6861:Slc22a20
|
UTSW |
19 |
6,021,838 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7243:Slc22a20
|
UTSW |
19 |
6,021,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8055:Slc22a20
|
UTSW |
19 |
6,021,439 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8359:Slc22a20
|
UTSW |
19 |
6,021,554 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8552:Slc22a20
|
UTSW |
19 |
6,035,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9165:Slc22a20
|
UTSW |
19 |
6,032,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9232:Slc22a20
|
UTSW |
19 |
6,023,009 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9453:Slc22a20
|
UTSW |
19 |
6,023,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-12-18 |
Incidental Mutation