Incidental Mutation 'IGL01085:Slc22a26'
| ID |
53237 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc22a26
|
| Ensembl Gene |
ENSMUSG00000053303 |
| Gene Name |
solute carrier family 22 (organic cation transporter), member 26 |
| Synonyms |
BC014805 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.049)
|
| Stock # |
IGL01085
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
7758406-7780032 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 7767464 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 314
(V314A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000064809
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065634]
[ENSMUST00000120522]
|
| AlphaFold |
Q91WJ2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065634
AA Change: V314A
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000064809
Gene: ENSMUSG00000053303
AA Change: V314A
| 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: V313A
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000113607
Gene: ENSMUSG00000053303
AA Change: V313A
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadac |
A |
G |
3: 59,944,763 (GRCm39) |
|
probably benign |
Het |
| Acp7 |
T |
C |
7: 28,310,478 (GRCm39) |
Y453C |
probably damaging |
Het |
| Bop1 |
T |
C |
15: 76,337,576 (GRCm39) |
D683G |
probably damaging |
Het |
| Cacna1b |
G |
T |
2: 24,569,006 (GRCm39) |
R974S |
probably damaging |
Het |
| Ceacam23 |
A |
T |
7: 17,649,616 (GRCm39) |
H729L |
possibly damaging |
Het |
| Cenpt |
T |
C |
8: 106,573,297 (GRCm39) |
E350G |
possibly damaging |
Het |
| Cep112 |
G |
T |
11: 108,377,432 (GRCm39) |
R270L |
probably damaging |
Het |
| Crem |
T |
C |
18: 3,299,236 (GRCm39) |
T26A |
probably damaging |
Het |
| Crot |
T |
C |
5: 9,023,955 (GRCm39) |
H387R |
probably damaging |
Het |
| Fdxr |
A |
T |
11: 115,160,402 (GRCm39) |
V351E |
probably benign |
Het |
| Fkbpl |
T |
C |
17: 34,864,718 (GRCm39) |
L162P |
probably damaging |
Het |
| Fmn2 |
T |
A |
1: 174,523,220 (GRCm39) |
N1358K |
probably damaging |
Het |
| Hectd4 |
G |
T |
5: 121,469,764 (GRCm39) |
G2553V |
probably damaging |
Het |
| Ifna16 |
A |
T |
4: 88,594,969 (GRCm39) |
I42K |
probably benign |
Het |
| Igfals |
C |
T |
17: 25,100,634 (GRCm39) |
T575I |
probably benign |
Het |
| Il6 |
G |
T |
5: 30,218,487 (GRCm39) |
V28F |
probably damaging |
Het |
| Irx1 |
A |
G |
13: 72,107,816 (GRCm39) |
S289P |
probably benign |
Het |
| Ncoa2 |
T |
C |
1: 13,219,303 (GRCm39) |
T1245A |
possibly damaging |
Het |
| Nr3c2 |
G |
T |
8: 77,634,983 (GRCm39) |
R28L |
probably benign |
Het |
| Nudt5 |
G |
A |
2: 5,869,238 (GRCm39) |
V155I |
probably benign |
Het |
| Or9s13 |
G |
T |
1: 92,547,921 (GRCm39) |
V98F |
possibly damaging |
Het |
| Pcm1 |
T |
C |
8: 41,762,640 (GRCm39) |
S1395P |
probably damaging |
Het |
| Pkhd1l1 |
G |
A |
15: 44,426,148 (GRCm39) |
|
probably null |
Het |
| Prodh |
A |
T |
16: 17,894,208 (GRCm39) |
V339E |
probably damaging |
Het |
| Rbm48 |
C |
T |
5: 3,634,762 (GRCm39) |
V401M |
probably benign |
Het |
| Retreg3 |
G |
A |
11: 100,991,751 (GRCm39) |
Q61* |
probably null |
Het |
| Rif1 |
A |
G |
2: 51,975,152 (GRCm39) |
M354V |
possibly damaging |
Het |
| Rrn3 |
G |
A |
16: 13,626,926 (GRCm39) |
V507M |
probably damaging |
Het |
| Safb2 |
T |
A |
17: 56,872,242 (GRCm39) |
R197* |
probably null |
Het |
| Slfnl1 |
G |
T |
4: 120,390,553 (GRCm39) |
R68L |
probably damaging |
Het |
| Spata1 |
G |
T |
3: 146,181,997 (GRCm39) |
Q10K |
possibly damaging |
Het |
| Swi5 |
T |
C |
2: 32,170,739 (GRCm39) |
M95V |
possibly damaging |
Het |
| Thpo |
T |
C |
16: 20,547,205 (GRCm39) |
D52G |
probably damaging |
Het |
| Tmem101 |
A |
T |
11: 102,045,486 (GRCm39) |
L121Q |
probably damaging |
Het |
| Trim40 |
T |
C |
17: 37,194,133 (GRCm39) |
I187V |
probably benign |
Het |
| Usp33 |
A |
G |
3: 152,074,206 (GRCm39) |
K351E |
possibly damaging |
Het |
| Uvrag |
T |
C |
7: 98,767,431 (GRCm39) |
T67A |
probably damaging |
Het |
| Vcan |
T |
C |
13: 89,828,077 (GRCm39) |
D2163G |
probably damaging |
Het |
| Wnt7a |
C |
T |
6: 91,385,771 (GRCm39) |
V61I |
probably benign |
Het |
| Zfp804b |
A |
G |
5: 6,820,931 (GRCm39) |
S675P |
probably damaging |
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 |
|
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 |
|
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 |
|
| Posted On |
2013-06-21 |
Incidental Mutation