Incidental Mutation 'R4025:Slc22a20'
| ID |
313465 |
| 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 |
040958-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.289)
|
| Stock # |
R4025 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
6020262-6036171 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 6035808 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 121
(T121A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049473
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025891]
[ENSMUST00000041827]
[ENSMUST00000041827]
[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 damaging
Transcript: ENSMUST00000041827
AA Change: T121A
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000049473
Gene: ENSMUSG00000037451
AA Change: T121A
| 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 damaging
Transcript: ENSMUST00000041827
AA Change: T121A
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000049473
Gene: ENSMUSG00000037451
AA Change: T121A
| 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 damaging
Transcript: ENSMUST00000041827
AA Change: T121A
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000049473
Gene: ENSMUSG00000037451
AA Change: T121A
| 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: 98.5%
- 10x: 97.0%
- 20x: 94.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aoc1 |
A |
T |
6: 48,885,203 (GRCm39) |
N646I |
probably damaging |
Het |
| Atad5 |
A |
G |
11: 80,011,512 (GRCm39) |
D1293G |
probably damaging |
Het |
| Cacna1a |
C |
T |
8: 85,307,962 (GRCm39) |
T1409I |
probably damaging |
Het |
| Cdk5rap2 |
T |
A |
4: 70,168,624 (GRCm39) |
K1428N |
probably damaging |
Het |
| Clcn6 |
T |
A |
4: 148,098,740 (GRCm39) |
T463S |
possibly damaging |
Het |
| Ctnna2 |
A |
T |
6: 77,613,827 (GRCm39) |
D254E |
possibly damaging |
Het |
| Fbxl7 |
A |
G |
15: 26,552,905 (GRCm39) |
S121P |
probably benign |
Het |
| Fezf2 |
A |
T |
14: 12,343,986 (GRCm38) |
C302S |
probably damaging |
Het |
| Gm9920 |
A |
G |
15: 54,975,966 (GRCm39) |
R25G |
probably benign |
Het |
| Golgb1 |
C |
T |
16: 36,735,706 (GRCm39) |
A1651V |
probably benign |
Het |
| Grk3 |
T |
A |
5: 113,062,850 (GRCm39) |
N666Y |
possibly damaging |
Het |
| Mctp2 |
C |
A |
7: 71,739,987 (GRCm39) |
C801F |
possibly damaging |
Het |
| Myo1e |
A |
G |
9: 70,232,157 (GRCm39) |
I229V |
probably benign |
Het |
| Nutm2 |
A |
G |
13: 50,623,389 (GRCm39) |
I29V |
probably benign |
Het |
| Odf2 |
C |
T |
2: 29,816,827 (GRCm39) |
R763W |
probably damaging |
Het |
| Or8d4 |
T |
C |
9: 40,038,796 (GRCm39) |
T154A |
probably benign |
Het |
| Papss2 |
T |
C |
19: 32,629,323 (GRCm39) |
I304T |
probably damaging |
Het |
| Polr2a |
T |
A |
11: 69,634,485 (GRCm39) |
I693F |
possibly damaging |
Het |
| Ppm1d |
T |
A |
11: 85,236,583 (GRCm39) |
I454N |
probably benign |
Het |
| Ranbp2 |
A |
G |
10: 58,316,378 (GRCm39) |
E2366G |
probably benign |
Het |
| Slc4a3 |
T |
C |
1: 75,525,685 (GRCm39) |
S262P |
probably damaging |
Het |
| Slfn4 |
A |
T |
11: 83,078,040 (GRCm39) |
N276I |
probably damaging |
Het |
| Spag7 |
C |
A |
11: 70,555,300 (GRCm39) |
E130D |
probably damaging |
Het |
| Spns1 |
A |
T |
7: 125,976,118 (GRCm39) |
C28* |
probably null |
Het |
| Stab1 |
C |
T |
14: 30,876,909 (GRCm39) |
G805D |
possibly damaging |
Het |
| Swi5 |
T |
C |
2: 32,171,800 (GRCm39) |
D41G |
possibly damaging |
Het |
| Tasor2 |
T |
C |
13: 3,634,554 (GRCm39) |
D751G |
probably damaging |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Uxs1 |
T |
C |
1: 43,841,776 (GRCm39) |
|
probably benign |
Het |
| Vmn1r34 |
T |
A |
6: 66,614,688 (GRCm39) |
M17L |
probably benign |
Het |
| Xirp2 |
A |
G |
2: 67,341,746 (GRCm39) |
D1329G |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGTGAACGCAAGGGCTTTC -3'
(R):5'- ACCAATGTCTCAGGGGTCTG -3'
Sequencing Primer
(F):5'- GGCTCACCTGTCAGCAAG -3'
(R):5'- CTCAGGGGTCTGGCTGAG -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation