Incidental Mutation 'R4602:Slco1a6'
ID |
345711 |
Institutional Source |
Beutler Lab
|
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: 0.070)
|
Stock # |
R4602 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
142031487-142131903 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 142047378 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Phenylalanine
at position 404
(C404F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107458
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111827]
|
AlphaFold |
Q99J94 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000111827
AA Change: C404F
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000107458 Gene: ENSMUSG00000079262 AA Change: C404F
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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahnak |
A |
G |
19: 8,988,189 (GRCm39) |
K3158E |
possibly damaging |
Het |
Ak7 |
G |
A |
12: 105,679,834 (GRCm39) |
V123M |
probably benign |
Het |
Ankmy1 |
A |
T |
1: 92,816,372 (GRCm39) |
N247K |
probably benign |
Het |
Atp1a1 |
A |
G |
3: 101,494,259 (GRCm39) |
V447A |
probably benign |
Het |
Atp1a4 |
A |
C |
1: 172,067,332 (GRCm39) |
M600R |
probably damaging |
Het |
Baat |
A |
G |
4: 49,502,727 (GRCm39) |
Y132H |
probably damaging |
Het |
Ceacam15 |
A |
G |
7: 16,405,906 (GRCm39) |
V215A |
probably damaging |
Het |
Celf2 |
G |
T |
2: 6,590,831 (GRCm39) |
N279K |
possibly damaging |
Het |
Cfap96 |
A |
T |
8: 46,423,505 (GRCm39) |
I69N |
probably damaging |
Het |
Clec14a |
C |
T |
12: 58,314,767 (GRCm39) |
R285H |
probably benign |
Het |
Ctnna1 |
T |
G |
18: 35,312,880 (GRCm39) |
I244R |
possibly damaging |
Het |
Dcxr |
T |
A |
11: 120,617,130 (GRCm39) |
N105Y |
possibly damaging |
Het |
Dnajc6 |
T |
C |
4: 101,468,461 (GRCm39) |
F166L |
probably damaging |
Het |
Ercc3 |
G |
A |
18: 32,378,624 (GRCm39) |
A202T |
probably benign |
Het |
Faf1 |
A |
G |
4: 109,584,625 (GRCm39) |
D67G |
probably benign |
Het |
Fancm |
G |
A |
12: 65,171,718 (GRCm39) |
R1786H |
probably benign |
Het |
Fnbp1 |
A |
G |
2: 30,926,552 (GRCm39) |
|
probably null |
Het |
Frem2 |
A |
G |
3: 53,455,228 (GRCm39) |
L2116S |
possibly damaging |
Het |
Gbp5 |
A |
G |
3: 142,209,546 (GRCm39) |
E164G |
probably benign |
Het |
Gm4922 |
A |
T |
10: 18,660,007 (GRCm39) |
Y238* |
probably null |
Het |
Gm8257 |
A |
G |
14: 44,893,774 (GRCm39) |
Y62H |
probably damaging |
Het |
Grin2b |
A |
G |
6: 135,755,739 (GRCm39) |
F525S |
probably damaging |
Het |
Hjv |
T |
G |
3: 96,434,869 (GRCm39) |
S203A |
probably benign |
Het |
Hsd17b3 |
C |
A |
13: 64,210,984 (GRCm39) |
|
probably null |
Het |
Ighv1-23 |
T |
A |
12: 114,728,179 (GRCm39) |
Q81L |
probably benign |
Het |
Inpp4b |
T |
C |
8: 82,696,164 (GRCm39) |
V366A |
probably damaging |
Het |
Jak1 |
G |
T |
4: 101,036,791 (GRCm39) |
A283D |
possibly damaging |
Het |
Kmt2d |
G |
T |
15: 98,748,140 (GRCm39) |
|
probably benign |
Het |
Mbtps1 |
A |
T |
8: 120,262,086 (GRCm39) |
D354E |
probably damaging |
Het |
Mettl17 |
T |
C |
14: 52,126,246 (GRCm39) |
V218A |
probably damaging |
Het |
Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
Nfat5 |
C |
T |
8: 108,093,855 (GRCm39) |
Q699* |
probably null |
Het |
Or4s2b |
G |
A |
2: 88,508,240 (GRCm39) |
V14I |
probably benign |
Het |
Or4s2b |
T |
G |
2: 88,508,523 (GRCm39) |
V101G |
probably benign |
Het |
Or7e174 |
C |
A |
9: 20,012,540 (GRCm39) |
H162N |
probably benign |
Het |
Osbpl7 |
C |
A |
11: 96,947,095 (GRCm39) |
S265R |
possibly damaging |
Het |
Pcdh15 |
A |
G |
10: 74,430,046 (GRCm39) |
T1258A |
probably damaging |
Het |
Pcdh20 |
A |
T |
14: 88,705,866 (GRCm39) |
L478Q |
probably damaging |
Het |
Pde11a |
A |
G |
2: 75,988,677 (GRCm39) |
V488A |
probably benign |
Het |
Phactr1 |
A |
T |
13: 43,248,441 (GRCm39) |
E463D |
probably benign |
Het |
Phaf1 |
C |
A |
8: 105,973,520 (GRCm39) |
N282K |
possibly damaging |
Het |
Samd9l |
A |
T |
6: 3,373,935 (GRCm39) |
Y1109N |
probably damaging |
Het |
Samd9l |
GAA |
GAAA |
6: 3,373,937 (GRCm39) |
|
probably null |
Het |
Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
Serpinb12 |
T |
A |
1: 106,876,883 (GRCm39) |
D66E |
probably benign |
Het |
Sgk2 |
G |
A |
2: 162,836,674 (GRCm39) |
|
probably null |
Het |
Spaca6 |
C |
T |
17: 18,051,387 (GRCm39) |
A21V |
probably damaging |
Het |
Sphkap |
G |
T |
1: 83,256,782 (GRCm39) |
Y322* |
probably null |
Het |
Sptlc3 |
G |
A |
2: 139,478,600 (GRCm39) |
V520I |
probably benign |
Het |
Stox2 |
A |
G |
8: 47,645,970 (GRCm39) |
S497P |
probably damaging |
Het |
Syt9 |
A |
T |
7: 107,035,594 (GRCm39) |
K204* |
probably null |
Het |
Taf3 |
A |
G |
2: 9,957,468 (GRCm39) |
V233A |
probably damaging |
Het |
Tbccd1 |
T |
C |
16: 22,637,285 (GRCm39) |
|
probably null |
Het |
Tdrd5 |
T |
A |
1: 156,111,944 (GRCm39) |
T479S |
probably benign |
Het |
Tex10 |
T |
C |
4: 48,452,946 (GRCm39) |
D671G |
probably benign |
Het |
Tgtp2 |
T |
C |
11: 48,949,811 (GRCm39) |
T254A |
probably damaging |
Het |
Tmtc2 |
T |
C |
10: 105,249,391 (GRCm39) |
Y114C |
probably benign |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Ubac1 |
A |
T |
2: 25,888,989 (GRCm39) |
I402N |
probably damaging |
Het |
Zmat1 |
A |
T |
X: 133,873,694 (GRCm39) |
S566T |
probably damaging |
Homo |
|
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 |
|
IGL02698:Slco1a6
|
APN |
6 |
142,048,737 (GRCm39) |
nonsense |
probably null |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCATATAACTTGTATGGGCTTGG -3'
(R):5'- TTTATAGGGGCACTGGGAAAC -3'
Sequencing Primer
(F):5'- GGGCTTGGTATAAAATTAATGAATGG -3'
(R):5'- GAGTTATGATCACTGTGTATCAGAAC -3'
|
Posted On |
2015-09-25 |