Incidental Mutation 'R6512:Slc22a26'
| ID |
519976 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc22a26
|
| Ensembl Gene |
ENSMUSG00000053303 |
| Gene Name |
solute carrier family 22 (organic cation transporter), member 26 |
| Synonyms |
BC014805 |
| MMRRC Submission |
045017-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.049)
|
| Stock # |
R6512 (G1)
|
| Quality Score |
167.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
7758406-7780032 bp(-) (GRCm39) |
| Type of Mutation |
start gained |
| DNA Base Change (assembly) |
T to C
at 7779865 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113607
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065634]
[ENSMUST00000120522]
|
| AlphaFold |
Q91WJ2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065634
|
| SMART Domains |
Protein: ENSMUSP00000064809
Gene: ENSMUSG00000053303
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
53 |
64 |
N/A |
INTRINSIC |
|
Pfam:Sugar_tr
|
96 |
528 |
1.1e-23 |
PFAM |
|
Pfam:MFS_1
|
124 |
370 |
7.8e-17 |
PFAM |
|
Pfam:MFS_1
|
350 |
547 |
2.1e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120522
|
| SMART Domains |
Protein: ENSMUSP00000113607
Gene: ENSMUSG00000053303
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
53 |
64 |
N/A |
INTRINSIC |
|
Pfam:Sugar_tr
|
94 |
527 |
4.9e-23 |
PFAM |
|
Pfam:MFS_1
|
124 |
358 |
1.2e-15 |
PFAM |
|
Pfam:MFS_1
|
349 |
547 |
2.4e-12 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.9%
|
| Validation Efficiency |
100% (39/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700122O11Rik |
A |
G |
17: 48,347,672 (GRCm39) |
S211P |
possibly damaging |
Het |
| Abcb11 |
T |
C |
2: 69,112,996 (GRCm39) |
T674A |
probably benign |
Het |
| Acad11 |
G |
T |
9: 103,972,758 (GRCm39) |
E484* |
probably null |
Het |
| Ankhd1 |
A |
T |
18: 36,724,509 (GRCm39) |
D389V |
probably damaging |
Het |
| Asic4 |
T |
A |
1: 75,449,687 (GRCm39) |
L439* |
probably null |
Het |
| Atp13a2 |
A |
G |
4: 140,730,529 (GRCm39) |
T808A |
probably damaging |
Het |
| Capn13 |
C |
A |
17: 73,689,985 (GRCm39) |
V9L |
probably benign |
Het |
| Chst11 |
A |
G |
10: 83,027,302 (GRCm39) |
Y243C |
probably damaging |
Het |
| Ctdp1 |
A |
T |
18: 80,494,478 (GRCm39) |
W308R |
probably damaging |
Het |
| Dnttip2 |
A |
G |
3: 122,069,172 (GRCm39) |
E129G |
possibly damaging |
Het |
| Dock5 |
A |
G |
14: 68,062,097 (GRCm39) |
S424P |
possibly damaging |
Het |
| Ebf1 |
C |
T |
11: 44,883,168 (GRCm39) |
H469Y |
probably damaging |
Het |
| Efhc1 |
A |
T |
1: 21,030,573 (GRCm39) |
N169Y |
probably damaging |
Het |
| Elmo1 |
T |
C |
13: 20,557,331 (GRCm39) |
L424P |
probably damaging |
Het |
| Ighv1-59 |
A |
G |
12: 115,299,003 (GRCm39) |
V16A |
probably damaging |
Het |
| Kcnc1 |
T |
G |
7: 46,076,821 (GRCm39) |
C208G |
probably damaging |
Het |
| Kif13b |
A |
T |
14: 64,982,323 (GRCm39) |
|
probably null |
Het |
| Lilra6 |
T |
A |
7: 3,917,387 (GRCm39) |
N203Y |
probably benign |
Het |
| Mrtfa |
T |
C |
15: 80,897,917 (GRCm39) |
T787A |
probably benign |
Het |
| Myh8 |
A |
T |
11: 67,180,488 (GRCm39) |
K575* |
probably null |
Het |
| Nedd1 |
C |
T |
10: 92,527,737 (GRCm39) |
A486T |
probably benign |
Het |
| Or2aj5 |
A |
T |
16: 19,425,109 (GRCm39) |
L103H |
probably damaging |
Het |
| Phrf1 |
T |
C |
7: 140,840,309 (GRCm39) |
I1168T |
possibly damaging |
Het |
| Pla2g12a |
T |
A |
3: 129,682,606 (GRCm39) |
H59Q |
probably benign |
Het |
| Ralbp1 |
A |
G |
17: 66,168,270 (GRCm39) |
V345A |
probably damaging |
Het |
| Ryr3 |
C |
T |
2: 112,697,723 (GRCm39) |
V894M |
possibly damaging |
Het |
| Sec24b |
T |
A |
3: 129,834,946 (GRCm39) |
Y84F |
probably damaging |
Het |
| Smc1b |
C |
T |
15: 84,976,232 (GRCm39) |
R825Q |
probably benign |
Het |
| Spats1 |
C |
T |
17: 45,763,599 (GRCm39) |
|
probably null |
Het |
| Tbk1 |
T |
A |
10: 121,414,526 (GRCm39) |
N63Y |
probably damaging |
Het |
| Tbl1xr1 |
C |
T |
3: 22,194,698 (GRCm39) |
|
probably benign |
Het |
| Top2b |
T |
A |
14: 16,409,854 (GRCm38) |
D840E |
possibly damaging |
Het |
| Trpc3 |
T |
A |
3: 36,716,907 (GRCm39) |
Y377F |
possibly damaging |
Het |
| Uba6 |
C |
T |
5: 86,272,262 (GRCm39) |
R778K |
probably benign |
Het |
| Vmn2r101 |
A |
T |
17: 19,809,146 (GRCm39) |
I92F |
probably damaging |
Het |
| Vmn2r106 |
C |
T |
17: 20,488,725 (GRCm39) |
C558Y |
probably damaging |
Het |
| Vmn2r70 |
G |
T |
7: 85,215,305 (GRCm39) |
F76L |
probably benign |
Het |
| Vwa3b |
A |
G |
1: 37,102,723 (GRCm39) |
|
probably benign |
Het |
| Zfp407 |
T |
A |
18: 84,578,474 (GRCm39) |
T880S |
probably damaging |
Het |
| Zfp64 |
C |
A |
2: 168,735,997 (GRCm39) |
G560V |
probably benign |
Het |
|
| Other mutations in Slc22a26 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00155:Slc22a26
|
APN |
19 |
7,760,201 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00338:Slc22a26
|
APN |
19 |
7,760,340 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL00736:Slc22a26
|
APN |
19 |
7,767,527 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL01085:Slc22a26
|
APN |
19 |
7,767,464 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01581:Slc22a26
|
APN |
19 |
7,779,549 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL02502:Slc22a26
|
APN |
19 |
7,768,125 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02658:Slc22a26
|
APN |
19 |
7,765,613 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL02936:Slc22a26
|
APN |
19 |
7,768,470 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03162:Slc22a26
|
APN |
19 |
7,779,466 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0034:Slc22a26
|
UTSW |
19 |
7,779,618 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0633:Slc22a26
|
UTSW |
19 |
7,765,575 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0676:Slc22a26
|
UTSW |
19 |
7,773,509 (GRCm39) |
splice site |
probably benign |
|
|
R2156:Slc22a26
|
UTSW |
19 |
7,779,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4043:Slc22a26
|
UTSW |
19 |
7,765,694 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4781:Slc22a26
|
UTSW |
19 |
7,767,500 (GRCm39) |
missense |
probably benign |
0.34 |
|
R4896:Slc22a26
|
UTSW |
19 |
7,768,419 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4999:Slc22a26
|
UTSW |
19 |
7,779,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5125:Slc22a26
|
UTSW |
19 |
7,767,540 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R5178:Slc22a26
|
UTSW |
19 |
7,767,540 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R6161:Slc22a26
|
UTSW |
19 |
7,763,812 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6494:Slc22a26
|
UTSW |
19 |
7,779,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6724:Slc22a26
|
UTSW |
19 |
7,779,726 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7323:Slc22a26
|
UTSW |
19 |
7,768,259 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7375:Slc22a26
|
UTSW |
19 |
7,760,509 (GRCm39) |
splice site |
probably null |
|
|
R7558:Slc22a26
|
UTSW |
19 |
7,762,651 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7634:Slc22a26
|
UTSW |
19 |
7,779,952 (GRCm39) |
splice site |
probably null |
|
|
R8772:Slc22a26
|
UTSW |
19 |
7,767,477 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8905:Slc22a26
|
UTSW |
19 |
7,760,331 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8937:Slc22a26
|
UTSW |
19 |
7,768,390 (GRCm39) |
splice site |
probably benign |
|
|
R9059:Slc22a26
|
UTSW |
19 |
7,762,559 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9659:Slc22a26
|
UTSW |
19 |
7,763,798 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9788:Slc22a26
|
UTSW |
19 |
7,763,798 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
|
| Posted On |
2018-06-06 |
Incidental Mutation