Incidental Mutation 'IGL02698:Slco1a6'
| ID |
304023 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slco1a6
|
| Ensembl Gene |
ENSMUSG00000079262 |
| Gene Name |
solute carrier organic anion transporter family, member 1a6 |
| Synonyms |
Slc21a13, Oatp-5, organic anion-transporting polypeptide, 4930422F19Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
IGL02698
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
142031487-142131903 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 142048737 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Stop codon
at position 348
(G348*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107458
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111827]
|
| AlphaFold |
Q99J94 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000111827
AA Change: G348*
|
| SMART Domains |
Protein: ENSMUSP00000107458
Gene: ENSMUSG00000079262
AA Change: G348*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
21 |
421 |
7.8e-26 |
PFAM |
|
Pfam:OATP
|
21 |
597 |
1.3e-163 |
PFAM |
|
Pfam:Kazal_2
|
445 |
486 |
2.7e-11 |
PFAM |
|
transmembrane domain
|
600 |
619 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arpp21 |
T |
A |
9: 112,014,812 (GRCm39) |
|
probably benign |
Het |
| Car8 |
A |
T |
4: 8,185,598 (GRCm39) |
I186N |
probably benign |
Het |
| Ccdc174 |
G |
A |
6: 91,867,834 (GRCm39) |
S183N |
probably benign |
Het |
| Ccdc66 |
T |
A |
14: 27,212,749 (GRCm39) |
K525* |
probably null |
Het |
| Cebpz |
A |
G |
17: 79,243,003 (GRCm39) |
V217A |
probably benign |
Het |
| Cfap36 |
C |
A |
11: 29,197,014 (GRCm39) |
|
probably null |
Het |
| Cpne4 |
T |
C |
9: 104,909,984 (GRCm39) |
V527A |
probably damaging |
Het |
| Crh |
T |
G |
3: 19,748,354 (GRCm39) |
D96A |
possibly damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Dcp1a |
A |
T |
14: 30,227,499 (GRCm39) |
|
probably benign |
Het |
| Ddhd1 |
A |
T |
14: 45,842,663 (GRCm39) |
|
probably benign |
Het |
| Dis3l2 |
C |
T |
1: 86,976,551 (GRCm39) |
|
probably benign |
Het |
| Dop1a |
T |
C |
9: 86,406,412 (GRCm39) |
|
probably benign |
Het |
| Etv3 |
A |
G |
3: 87,443,885 (GRCm39) |
T490A |
possibly damaging |
Het |
| Fastkd2 |
A |
G |
1: 63,787,158 (GRCm39) |
T531A |
probably benign |
Het |
| Fat1 |
C |
T |
8: 45,476,201 (GRCm39) |
A1749V |
probably benign |
Het |
| Fgfr1 |
T |
A |
8: 26,063,624 (GRCm39) |
L761* |
probably null |
Het |
| Gcc2 |
A |
G |
10: 58,107,112 (GRCm39) |
K683E |
possibly damaging |
Het |
| Gm5117 |
C |
T |
8: 32,229,767 (GRCm39) |
|
noncoding transcript |
Het |
| Hif1a |
T |
C |
12: 73,977,545 (GRCm39) |
|
probably null |
Het |
| Inha |
A |
G |
1: 75,486,527 (GRCm39) |
E274G |
probably damaging |
Het |
| Itih2 |
G |
T |
2: 10,135,312 (GRCm39) |
P26H |
probably damaging |
Het |
| Kif23 |
G |
A |
9: 61,832,283 (GRCm39) |
T620I |
possibly damaging |
Het |
| Klhl30 |
T |
C |
1: 91,281,429 (GRCm39) |
F10S |
probably damaging |
Het |
| Kmt2b |
T |
C |
7: 30,278,118 (GRCm39) |
|
probably benign |
Het |
| Lmf2 |
A |
C |
15: 89,238,357 (GRCm39) |
L174R |
probably damaging |
Het |
| Med13l |
T |
C |
5: 118,900,894 (GRCm39) |
L2216P |
probably damaging |
Het |
| Mmp1b |
T |
A |
9: 7,384,877 (GRCm39) |
L257F |
probably damaging |
Het |
| Net1 |
A |
G |
13: 3,937,569 (GRCm39) |
|
probably null |
Het |
| Nfasc |
A |
G |
1: 132,562,475 (GRCm39) |
V100A |
probably benign |
Het |
| Nr4a2 |
A |
G |
2: 56,998,172 (GRCm39) |
F535S |
probably damaging |
Het |
| Ntn4 |
G |
T |
10: 93,480,521 (GRCm39) |
A45S |
probably benign |
Het |
| Or2y1c |
T |
A |
11: 49,361,690 (GRCm39) |
F237L |
probably benign |
Het |
| Or4a27 |
T |
A |
2: 88,559,815 (GRCm39) |
I43F |
probably damaging |
Het |
| Or52a20 |
T |
C |
7: 103,366,485 (GRCm39) |
V228A |
probably damaging |
Het |
| Or5w17 |
T |
A |
2: 87,584,188 (GRCm39) |
K50* |
probably null |
Het |
| Or8c9 |
A |
G |
9: 38,241,506 (GRCm39) |
T208A |
probably benign |
Het |
| Pappa |
A |
T |
4: 65,099,257 (GRCm39) |
E592V |
probably damaging |
Het |
| Pate10 |
T |
C |
9: 35,652,416 (GRCm39) |
|
probably benign |
Het |
| Pi4ka |
A |
T |
16: 17,109,032 (GRCm39) |
I1630N |
probably damaging |
Het |
| Ptprb |
A |
G |
10: 116,199,185 (GRCm39) |
D1997G |
probably benign |
Het |
| Rc3h2 |
A |
T |
2: 37,295,312 (GRCm39) |
S235T |
probably damaging |
Het |
| S1pr1 |
T |
A |
3: 115,505,746 (GRCm39) |
K283* |
probably null |
Het |
| Scn5a |
T |
A |
9: 119,350,163 (GRCm39) |
T904S |
probably damaging |
Het |
| Sema6d |
T |
C |
2: 124,495,643 (GRCm39) |
L30P |
possibly damaging |
Het |
| Slc26a7 |
A |
C |
4: 14,593,867 (GRCm39) |
S83A |
possibly damaging |
Het |
| Srgap3 |
C |
T |
6: 112,723,889 (GRCm39) |
V524I |
probably damaging |
Het |
| Stxbp3-ps |
A |
T |
19: 9,535,688 (GRCm39) |
|
noncoding transcript |
Het |
| Sv2b |
C |
T |
7: 74,790,726 (GRCm39) |
|
probably null |
Het |
| Sympk |
T |
C |
7: 18,779,559 (GRCm39) |
I663T |
probably benign |
Het |
| Ttn |
C |
A |
2: 76,775,115 (GRCm39) |
V1976L |
probably damaging |
Het |
| Uqcrc1 |
T |
C |
9: 108,777,011 (GRCm39) |
|
probably null |
Het |
| Vmn2r111 |
T |
C |
17: 22,790,226 (GRCm39) |
Y260C |
probably damaging |
Het |
|
| Other mutations in Slco1a6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00422:Slco1a6
|
APN |
6 |
142,106,743 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00430:Slco1a6
|
APN |
6 |
142,047,377 (GRCm39) |
nonsense |
probably null |
|
|
IGL00541:Slco1a6
|
APN |
6 |
142,042,025 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL01340:Slco1a6
|
APN |
6 |
142,055,109 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL01693:Slco1a6
|
APN |
6 |
142,078,935 (GRCm39) |
nonsense |
probably null |
|
|
IGL01713:Slco1a6
|
APN |
6 |
142,032,293 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL01828:Slco1a6
|
APN |
6 |
142,042,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02049:Slco1a6
|
APN |
6 |
142,047,309 (GRCm39) |
splice site |
probably benign |
|
|
IGL02085:Slco1a6
|
APN |
6 |
142,032,200 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02245:Slco1a6
|
APN |
6 |
142,055,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02549:Slco1a6
|
APN |
6 |
142,042,141 (GRCm39) |
splice site |
probably benign |
|
|
IGL02948:Slco1a6
|
APN |
6 |
142,078,961 (GRCm39) |
splice site |
probably null |
|
|
IGL03075:Slco1a6
|
APN |
6 |
142,048,875 (GRCm39) |
splice site |
probably benign |
|
|
PIT4585001:Slco1a6
|
UTSW |
6 |
142,055,246 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0008:Slco1a6
|
UTSW |
6 |
142,102,948 (GRCm39) |
unclassified |
probably benign |
|
|
R0106:Slco1a6
|
UTSW |
6 |
142,103,116 (GRCm39) |
unclassified |
probably benign |
|
|
R0106:Slco1a6
|
UTSW |
6 |
142,103,116 (GRCm39) |
unclassified |
probably benign |
|
|
R0173:Slco1a6
|
UTSW |
6 |
142,048,848 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1642:Slco1a6
|
UTSW |
6 |
142,032,160 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1939:Slco1a6
|
UTSW |
6 |
142,078,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2256:Slco1a6
|
UTSW |
6 |
142,036,742 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2257:Slco1a6
|
UTSW |
6 |
142,036,742 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2696:Slco1a6
|
UTSW |
6 |
142,058,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2902:Slco1a6
|
UTSW |
6 |
142,042,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4602:Slco1a6
|
UTSW |
6 |
142,047,378 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4611:Slco1a6
|
UTSW |
6 |
142,047,378 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4958:Slco1a6
|
UTSW |
6 |
142,091,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5256:Slco1a6
|
UTSW |
6 |
142,078,427 (GRCm39) |
missense |
probably benign |
0.39 |
|
R5347:Slco1a6
|
UTSW |
6 |
142,032,325 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6130:Slco1a6
|
UTSW |
6 |
142,032,155 (GRCm39) |
missense |
probably benign |
0.26 |
|
R6384:Slco1a6
|
UTSW |
6 |
142,055,105 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6543:Slco1a6
|
UTSW |
6 |
142,078,872 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6662:Slco1a6
|
UTSW |
6 |
142,078,941 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6687:Slco1a6
|
UTSW |
6 |
142,045,076 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6702:Slco1a6
|
UTSW |
6 |
142,048,826 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7012:Slco1a6
|
UTSW |
6 |
142,032,287 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7140:Slco1a6
|
UTSW |
6 |
142,048,745 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7392:Slco1a6
|
UTSW |
6 |
142,103,003 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7399:Slco1a6
|
UTSW |
6 |
142,036,794 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7476:Slco1a6
|
UTSW |
6 |
142,048,727 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7621:Slco1a6
|
UTSW |
6 |
142,106,743 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7633:Slco1a6
|
UTSW |
6 |
142,091,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8139:Slco1a6
|
UTSW |
6 |
142,035,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8177:Slco1a6
|
UTSW |
6 |
142,047,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8768:Slco1a6
|
UTSW |
6 |
142,078,897 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8957:Slco1a6
|
UTSW |
6 |
142,091,493 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9090:Slco1a6
|
UTSW |
6 |
142,035,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9271:Slco1a6
|
UTSW |
6 |
142,035,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation