Incidental Mutation 'R6494:Slc22a26'
| ID |
522985 |
| 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 |
044626-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.049)
|
| Stock # |
R6494 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
7758406-7780032 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 7779651 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 55
(D55V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113607
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065634]
[ENSMUST00000120522]
|
| AlphaFold |
Q91WJ2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065634
AA Change: D55V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000064809
Gene: ENSMUSG00000053303
AA Change: D55V
| 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 damaging
Transcript: ENSMUST00000120522
AA Change: D55V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113607
Gene: ENSMUSG00000053303
AA Change: D55V
| 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: 99.7%
- 10x: 97.8%
- 20x: 92.4%
|
| Validation Efficiency |
98% (44/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akt2 |
T |
C |
7: 27,315,774 (GRCm39) |
L52P |
possibly damaging |
Het |
| Chd1l |
G |
A |
3: 97,494,483 (GRCm39) |
A399V |
probably damaging |
Het |
| Chic2 |
T |
C |
5: 75,204,943 (GRCm39) |
E6G |
probably benign |
Het |
| Clca4a |
T |
A |
3: 144,663,059 (GRCm39) |
T597S |
probably benign |
Het |
| Col5a2 |
C |
A |
1: 45,417,487 (GRCm39) |
D1363Y |
probably damaging |
Het |
| Csmd1 |
C |
T |
8: 16,261,709 (GRCm39) |
|
probably null |
Het |
| Dnah7b |
A |
T |
1: 46,138,591 (GRCm39) |
Y211F |
probably damaging |
Het |
| Efcab3 |
A |
T |
11: 104,990,845 (GRCm39) |
Y5460F |
possibly damaging |
Het |
| Efcab6 |
T |
A |
15: 83,928,523 (GRCm39) |
|
probably null |
Het |
| Eno4 |
T |
A |
19: 58,951,226 (GRCm39) |
Y237N |
probably damaging |
Het |
| Fer1l4 |
T |
A |
2: 155,887,390 (GRCm39) |
D602V |
probably benign |
Het |
| Fgfr2 |
T |
C |
7: 129,800,280 (GRCm39) |
N337S |
probably damaging |
Het |
| Fras1 |
C |
T |
5: 96,907,423 (GRCm39) |
R3203C |
possibly damaging |
Het |
| Gbp2 |
T |
A |
3: 142,337,769 (GRCm39) |
V295E |
probably damaging |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Hyal4 |
A |
G |
6: 24,765,745 (GRCm39) |
I366M |
possibly damaging |
Het |
| Itsn2 |
C |
T |
12: 4,684,792 (GRCm39) |
R448* |
probably null |
Het |
| Klhl35 |
G |
T |
7: 99,122,106 (GRCm39) |
W69L |
probably damaging |
Het |
| Kpnb1 |
T |
C |
11: 97,072,474 (GRCm39) |
I154V |
probably benign |
Het |
| Lax1 |
T |
A |
1: 133,608,186 (GRCm39) |
Y185F |
probably damaging |
Het |
| Mmp12 |
C |
T |
9: 7,353,479 (GRCm39) |
P208L |
probably damaging |
Het |
| Ndufb8 |
C |
T |
19: 44,543,744 (GRCm39) |
V33M |
probably null |
Het |
| Nptn |
T |
G |
9: 58,531,035 (GRCm39) |
C169G |
probably damaging |
Het |
| Nuggc |
A |
T |
14: 65,885,671 (GRCm39) |
E766V |
probably damaging |
Het |
| Or10ag55-ps1 |
A |
T |
2: 87,139,520 (GRCm39) |
N149I |
possibly damaging |
Het |
| Or12e14 |
A |
T |
2: 87,187,976 (GRCm39) |
K63* |
probably null |
Het |
| Pcdhga6 |
T |
A |
18: 37,841,594 (GRCm39) |
I438N |
probably damaging |
Het |
| Pkn2 |
T |
C |
3: 142,509,429 (GRCm39) |
N721S |
possibly damaging |
Het |
| Pole |
T |
C |
5: 110,472,588 (GRCm39) |
W1590R |
possibly damaging |
Het |
| Prph2 |
A |
G |
17: 47,222,007 (GRCm39) |
T129A |
probably benign |
Het |
| Ptpro |
A |
T |
6: 137,359,640 (GRCm39) |
K403N |
probably benign |
Het |
| Rbck1 |
T |
C |
2: 152,172,886 (GRCm39) |
D54G |
possibly damaging |
Het |
| Serpinb7 |
T |
A |
1: 107,363,076 (GRCm39) |
L80* |
probably null |
Het |
| Setdb2 |
T |
A |
14: 59,639,863 (GRCm39) |
Y676F |
probably benign |
Het |
| Skint1 |
G |
T |
4: 111,867,909 (GRCm39) |
C12F |
probably benign |
Het |
| Slc9a8 |
G |
A |
2: 167,266,211 (GRCm39) |
V63I |
probably damaging |
Het |
| Sox2 |
T |
A |
3: 34,705,246 (GRCm39) |
S228T |
probably benign |
Het |
| Spata31g1 |
A |
G |
4: 42,971,924 (GRCm39) |
N419S |
possibly damaging |
Het |
| Spg11 |
A |
G |
2: 121,943,706 (GRCm39) |
S149P |
probably damaging |
Het |
| Tbc1d19 |
T |
A |
5: 53,986,725 (GRCm39) |
S45T |
probably benign |
Het |
| Tsacc |
T |
C |
3: 88,202,703 (GRCm39) |
E11G |
probably benign |
Het |
| Ttc7b |
C |
T |
12: 100,461,666 (GRCm39) |
A104T |
possibly damaging |
Het |
| Uox |
C |
T |
3: 146,330,332 (GRCm39) |
R163* |
probably null |
Het |
| Zfp108 |
T |
A |
7: 23,960,782 (GRCm39) |
F458I |
probably damaging |
Het |
| Zfp616 |
A |
T |
11: 73,976,018 (GRCm39) |
K762N |
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 |
|
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 |
|
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'- AGAAAAGTCCTCTGGTCATACAC -3'
(R):5'- GGCAGTCATTCAGCCTCAATG -3'
Sequencing Primer
(F):5'- AGCCATCCATACAGGGCTCTG -3'
(R):5'- AATGGCCTTTCAGGATCTTCTG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation