Incidental Mutation 'R6662:Slco1a6'
ID |
528019 |
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 |
MMRRC Submission |
044782-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.070)
|
Stock # |
R6662 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
142031487-142131903 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 142078941 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 118
(T118I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107458
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111827]
|
AlphaFold |
Q99J94 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000111827
AA Change: T118I
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000107458 Gene: ENSMUSG00000079262 AA Change: T118I
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172984
|
Meta Mutation Damage Score |
0.1622 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
Validation Efficiency |
100% (46/46) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ablim1 |
A |
G |
19: 57,062,285 (GRCm39) |
|
probably null |
Het |
Acox1 |
A |
G |
11: 116,066,149 (GRCm39) |
Y418H |
probably damaging |
Het |
Akr1b1 |
C |
T |
6: 34,286,939 (GRCm39) |
V206M |
possibly damaging |
Het |
Aldh3a1 |
G |
A |
11: 61,105,481 (GRCm39) |
V196I |
probably benign |
Het |
Aox3 |
A |
G |
1: 58,157,774 (GRCm39) |
K44E |
probably damaging |
Het |
Bad |
T |
A |
19: 6,928,438 (GRCm39) |
|
probably benign |
Het |
BC034090 |
G |
T |
1: 155,102,085 (GRCm39) |
Q60K |
possibly damaging |
Het |
Casp6 |
A |
G |
3: 129,705,875 (GRCm39) |
T181A |
probably benign |
Het |
Catsperg2 |
G |
A |
7: 29,418,938 (GRCm39) |
|
probably benign |
Het |
Ccdc14 |
T |
C |
16: 34,511,164 (GRCm39) |
L46P |
probably damaging |
Het |
Ces1b |
A |
G |
8: 93,790,697 (GRCm39) |
L364S |
probably benign |
Het |
Cfap45 |
T |
C |
1: 172,357,417 (GRCm39) |
I15T |
probably benign |
Het |
Dph5 |
G |
A |
3: 115,722,205 (GRCm39) |
E228K |
probably benign |
Het |
Fat4 |
G |
T |
3: 39,010,970 (GRCm39) |
L2023F |
possibly damaging |
Het |
Garem1 |
T |
C |
18: 21,281,304 (GRCm39) |
N351D |
probably benign |
Het |
Grm2 |
C |
T |
9: 106,525,252 (GRCm39) |
A488T |
probably benign |
Het |
Ifit3b |
A |
G |
19: 34,589,337 (GRCm39) |
E171G |
probably damaging |
Het |
Il1rn |
A |
T |
2: 24,226,887 (GRCm39) |
|
probably null |
Het |
Itih5 |
A |
T |
2: 10,253,992 (GRCm39) |
I748F |
probably benign |
Het |
Kcnh5 |
C |
A |
12: 75,054,385 (GRCm39) |
D520Y |
probably damaging |
Het |
Mgat5 |
C |
A |
1: 127,396,974 (GRCm39) |
H574N |
probably damaging |
Het |
Moxd1 |
A |
C |
10: 24,160,658 (GRCm39) |
D437A |
probably damaging |
Het |
Mybpc2 |
A |
G |
7: 44,155,590 (GRCm39) |
F888L |
probably benign |
Het |
Ncs1 |
T |
A |
2: 31,177,372 (GRCm39) |
L183Q |
probably damaging |
Het |
Neto2 |
A |
T |
8: 86,389,844 (GRCm39) |
D206E |
probably damaging |
Het |
Omp |
A |
G |
7: 97,794,546 (GRCm39) |
L27P |
probably damaging |
Het |
Oxsm |
A |
G |
14: 16,242,287 (GRCm38) |
S161P |
probably benign |
Het |
Pate6 |
C |
A |
9: 35,701,296 (GRCm39) |
R6M |
possibly damaging |
Het |
Pde4b |
A |
G |
4: 102,459,095 (GRCm39) |
I381M |
possibly damaging |
Het |
Pramel5 |
A |
T |
4: 143,999,675 (GRCm39) |
N137K |
probably benign |
Het |
Prss33 |
T |
C |
17: 24,052,934 (GRCm39) |
S247G |
probably damaging |
Het |
Rassf9 |
T |
A |
10: 102,381,899 (GRCm39) |
L425Q |
possibly damaging |
Het |
Setx |
A |
T |
2: 29,048,126 (GRCm39) |
D1909V |
probably damaging |
Het |
Slc26a3 |
A |
T |
12: 31,507,345 (GRCm39) |
K402* |
probably null |
Het |
Syne1 |
A |
G |
10: 5,078,416 (GRCm39) |
L6769P |
probably damaging |
Het |
Tas2r107 |
A |
T |
6: 131,636,452 (GRCm39) |
V199D |
possibly damaging |
Het |
Tchp |
A |
G |
5: 114,858,076 (GRCm39) |
|
probably null |
Het |
Trdn |
A |
T |
10: 33,350,483 (GRCm39) |
N684I |
probably damaging |
Het |
Trio |
G |
T |
15: 27,855,082 (GRCm39) |
T700K |
probably benign |
Het |
Ttn |
C |
T |
2: 76,586,242 (GRCm39) |
V20084I |
probably benign |
Het |
Ubl3 |
A |
T |
5: 148,446,116 (GRCm39) |
Y62* |
probably null |
Het |
Uckl1 |
A |
G |
2: 181,215,053 (GRCm39) |
Y267H |
possibly damaging |
Het |
Zfp1005 |
G |
A |
2: 150,108,172 (GRCm39) |
|
probably null |
Het |
Zfp786 |
T |
C |
6: 47,803,920 (GRCm39) |
N41D |
probably damaging |
Het |
Zfp983 |
T |
C |
17: 21,881,001 (GRCm39) |
S310P |
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 |
|
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 |
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 |
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'- ACCCAGTGTGGTATTATAACCTTTC -3'
(R):5'- CTACATGTTCAGCCCAATGATAC -3'
Sequencing Primer
(F):5'- CCTTTCATAAAAGAGCATTCTGTAGC -3'
(R):5'- GTGCAGCAAGTACTTCACATG -3'
|
Posted On |
2018-07-24 |