Incidental Mutation 'R4495:Slc22a20'
| ID |
330950 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc22a20
|
| Ensembl Gene |
ENSMUSG00000037451 |
| Gene Name |
solute carrier family 22 (organic anion transporter), member 20 |
| Synonyms |
LOC381203, mOAT6 |
| MMRRC Submission |
041583-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.289)
|
| Stock # |
R4495 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
6020262-6036171 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 6034952 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 170
(S170P)
|
| 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: S170P
PolyPhen 2
Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000049473
Gene: ENSMUSG00000037451
AA Change: S170P
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Calcr |
A |
T |
6: 3,708,484 (GRCm39) |
|
probably null |
Het |
| Cdh4 |
T |
C |
2: 179,422,182 (GRCm39) |
V102A |
probably damaging |
Het |
| Cmya5 |
T |
C |
13: 93,230,573 (GRCm39) |
E1505G |
probably benign |
Het |
| Cyp2b9 |
T |
A |
7: 25,900,180 (GRCm39) |
D329E |
probably benign |
Het |
| Ddx47 |
T |
C |
6: 134,998,429 (GRCm39) |
F375S |
possibly damaging |
Het |
| Dnah7b |
T |
G |
1: 46,124,792 (GRCm39) |
S154A |
probably benign |
Het |
| Fry |
G |
T |
5: 150,233,928 (GRCm39) |
E133D |
probably damaging |
Het |
| Hydin |
T |
C |
8: 111,322,034 (GRCm39) |
L4562P |
probably damaging |
Het |
| Ifnlr1 |
A |
T |
4: 135,433,079 (GRCm39) |
E505V |
probably damaging |
Het |
| Igfn1 |
T |
C |
1: 135,897,416 (GRCm39) |
E1050G |
possibly damaging |
Het |
| Kidins220 |
T |
A |
12: 25,088,301 (GRCm39) |
|
probably null |
Het |
| Klra10 |
T |
G |
6: 130,256,311 (GRCm39) |
E114D |
probably benign |
Het |
| Lyst |
G |
A |
13: 13,809,968 (GRCm39) |
R546H |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Mrgpra3 |
T |
C |
7: 47,239,813 (GRCm39) |
I38V |
probably benign |
Het |
| Nfkb2 |
A |
G |
19: 46,296,878 (GRCm39) |
D316G |
probably damaging |
Het |
| Nrxn2 |
A |
T |
19: 6,581,429 (GRCm39) |
T412S |
probably benign |
Het |
| Or4k37 |
T |
A |
2: 111,159,365 (GRCm39) |
N200K |
probably benign |
Het |
| Palm3 |
C |
T |
8: 84,753,495 (GRCm39) |
R97C |
probably damaging |
Het |
| Pdcd11 |
T |
C |
19: 47,099,445 (GRCm39) |
V848A |
probably benign |
Het |
| Prdx1 |
T |
C |
4: 116,556,416 (GRCm39) |
V188A |
probably benign |
Het |
| Prep |
T |
C |
10: 44,996,915 (GRCm39) |
F398L |
probably benign |
Het |
| Prlhr |
A |
T |
19: 60,455,519 (GRCm39) |
M349K |
probably benign |
Het |
| Rwdd2b |
T |
C |
16: 87,231,450 (GRCm39) |
T235A |
probably benign |
Het |
| Scn1a |
T |
C |
2: 66,111,146 (GRCm39) |
|
probably null |
Het |
| Sidt1 |
C |
T |
16: 44,102,841 (GRCm39) |
V295M |
probably damaging |
Het |
| Sla |
T |
C |
15: 66,673,361 (GRCm39) |
T10A |
probably benign |
Het |
| Syt6 |
C |
A |
3: 103,494,876 (GRCm39) |
C280* |
probably null |
Het |
| Thbs2 |
A |
G |
17: 14,891,675 (GRCm39) |
I954T |
probably damaging |
Het |
| Tmprss11b |
T |
A |
5: 86,812,922 (GRCm39) |
K125* |
probably null |
Het |
| Ugt1a6a |
T |
A |
1: 88,066,905 (GRCm39) |
L237H |
probably damaging |
Het |
| Vmn2r68 |
TCC |
TC |
7: 84,870,758 (GRCm39) |
|
probably null |
Het |
| Wdr53 |
A |
G |
16: 32,070,969 (GRCm39) |
T105A |
probably benign |
Het |
| Xkrx |
T |
C |
X: 133,051,745 (GRCm39) |
N302S |
possibly damaging |
Het |
| Zfp704 |
T |
A |
3: 9,536,137 (GRCm39) |
S128C |
probably benign |
Het |
| Zfp759 |
A |
G |
13: 67,286,989 (GRCm39) |
|
probably null |
Het |
| Zfyve16 |
A |
T |
13: 92,625,075 (GRCm39) |
D1494E |
probably benign |
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 |
|
IGL02813:Slc22a20
|
APN |
19 |
6,034,886 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCAAAGCTGTCCTGTGATGC -3'
(R):5'- TCTATCCCTGATCAGCCTGG -3'
Sequencing Primer
(F):5'- AAAGCTGTCCTGTGATGCTGTAATTC -3'
(R):5'- ATCAGCCTGGTGGTTGC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation