Incidental Mutation 'R5178:Slc22a26'
| ID |
399524 |
| 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 |
042758-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.049)
|
| Stock # |
R5178 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
7758406-7780032 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 7767540 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 289
(T289A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000064809
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065634]
[ENSMUST00000120522]
|
| AlphaFold |
Q91WJ2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000065634
AA Change: T289A
PolyPhen 2
Score 0.618 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000064809
Gene: ENSMUSG00000053303
AA Change: T289A
| 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
AA Change: T288A
PolyPhen 2
Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000113607
Gene: ENSMUSG00000053303
AA Change: T288A
| 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 |
|
| Meta Mutation Damage Score |
0.1709 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abt1 |
G |
T |
13: 23,606,819 (GRCm39) |
A94E |
possibly damaging |
Het |
| Carmil2 |
G |
T |
8: 106,423,521 (GRCm39) |
G1207V |
probably damaging |
Het |
| Cndp2 |
A |
T |
18: 84,693,153 (GRCm39) |
N202K |
probably benign |
Het |
| Cyp2c66 |
A |
G |
19: 39,159,473 (GRCm39) |
Y308C |
probably damaging |
Het |
| Dhx29 |
T |
G |
13: 113,069,134 (GRCm39) |
S155A |
possibly damaging |
Het |
| Dnah7b |
T |
G |
1: 46,397,376 (GRCm39) |
F3936V |
possibly damaging |
Het |
| Dsg1b |
G |
A |
18: 20,530,560 (GRCm39) |
G405E |
probably damaging |
Het |
| Exo5 |
A |
T |
4: 120,778,734 (GRCm39) |
|
probably null |
Het |
| Fam171b |
T |
C |
2: 83,710,331 (GRCm39) |
F668L |
probably damaging |
Het |
| Gemin5 |
A |
T |
11: 58,037,344 (GRCm39) |
S624T |
probably benign |
Het |
| Gpc2 |
C |
A |
5: 138,273,867 (GRCm39) |
V444L |
possibly damaging |
Het |
| Hephl1 |
T |
A |
9: 14,997,468 (GRCm39) |
K399N |
probably damaging |
Het |
| Lair1 |
G |
A |
7: 4,013,488 (GRCm39) |
T82I |
possibly damaging |
Het |
| Lhx1 |
G |
T |
11: 84,411,214 (GRCm39) |
A155E |
possibly damaging |
Het |
| Maip1 |
G |
A |
1: 57,454,849 (GRCm39) |
D278N |
probably benign |
Het |
| Mcm4 |
T |
A |
16: 15,453,167 (GRCm39) |
D174V |
probably benign |
Het |
| Mcph1 |
T |
A |
8: 18,657,342 (GRCm39) |
D60E |
probably damaging |
Het |
| Mmp17 |
T |
A |
5: 129,672,122 (GRCm39) |
W132R |
probably damaging |
Het |
| Or4p7 |
C |
T |
2: 88,221,819 (GRCm39) |
T76I |
possibly damaging |
Het |
| Or7e174 |
T |
A |
9: 20,012,488 (GRCm39) |
C144* |
probably null |
Het |
| Pds5a |
T |
C |
5: 65,821,218 (GRCm39) |
T169A |
probably damaging |
Het |
| Pfkm |
A |
G |
15: 98,029,396 (GRCm39) |
N697D |
probably benign |
Het |
| Pira1 |
T |
A |
7: 3,742,396 (GRCm39) |
K44* |
probably null |
Het |
| Ppwd1 |
A |
T |
13: 104,356,943 (GRCm39) |
S191T |
probably benign |
Het |
| Ranbp2 |
T |
A |
10: 58,312,607 (GRCm39) |
M1109K |
probably benign |
Het |
| Robo4 |
T |
C |
9: 37,319,256 (GRCm39) |
W535R |
probably damaging |
Het |
| Rsf1 |
A |
G |
7: 97,311,079 (GRCm39) |
D603G |
possibly damaging |
Het |
| Sp2 |
A |
G |
11: 96,846,664 (GRCm39) |
F554L |
probably benign |
Het |
| Sp4 |
A |
G |
12: 118,225,624 (GRCm39) |
V580A |
possibly damaging |
Het |
| Tbc1d19 |
T |
A |
5: 54,046,667 (GRCm39) |
S413T |
possibly damaging |
Het |
| Tecta |
T |
C |
9: 42,286,481 (GRCm39) |
D725G |
probably damaging |
Het |
| Tmem200a |
T |
A |
10: 25,870,277 (GRCm39) |
Q4H |
probably benign |
Het |
| Tpx2 |
T |
A |
2: 152,717,469 (GRCm39) |
I122N |
probably benign |
Het |
| Trgc4 |
A |
G |
13: 19,528,932 (GRCm39) |
|
probably benign |
Het |
| Ube4b |
T |
C |
4: 149,427,449 (GRCm39) |
M900V |
probably damaging |
Het |
| Vmn1r87 |
G |
T |
7: 12,865,792 (GRCm39) |
A165E |
possibly damaging |
Het |
| Vmn2r95 |
A |
G |
17: 18,660,337 (GRCm39) |
T250A |
probably benign |
Het |
| Wasf1 |
G |
A |
10: 40,813,672 (GRCm39) |
R518H |
unknown |
Het |
| Zfhx2 |
A |
T |
14: 55,312,232 (GRCm39) |
F154Y |
probably benign |
Het |
| Zfp729a |
A |
G |
13: 67,785,764 (GRCm39) |
|
probably null |
Het |
| Zfp976 |
A |
G |
7: 42,261,925 (GRCm39) |
|
probably null |
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 |
|
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 |
|
R6512:Slc22a26
|
UTSW |
19 |
7,779,865 (GRCm39) |
start gained |
probably benign |
|
|
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 |
PCR Primer
(F):5'- ATATTTCATCTTGGGCACTAACTCG -3'
(R):5'- GTTCCCAGTCTGCATTCCAG -3'
Sequencing Primer
(F):5'- TTGGGCACTAACTCGTAAGC -3'
(R):5'- CCAGAGATTCATATACATTGCATTGC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation