Incidental Mutation 'R7430:Slco1a5'
ID |
576392 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slco1a5
|
Ensembl Gene |
ENSMUSG00000063975 |
Gene Name |
solute carrier organic anion transporter family, member 1a5 |
Synonyms |
Slc21a7, Oatp3 |
MMRRC Submission |
045508-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
R7430 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
142179953-142268707 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 142194438 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 402
(S402T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000080116
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081380]
[ENSMUST00000111825]
[ENSMUST00000153268]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000081380
AA Change: S402T
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000080116 Gene: ENSMUSG00000063975 AA Change: S402T
Domain | Start | End | E-Value | Type |
Pfam:MFS_1
|
22 |
420 |
4.3e-30 |
PFAM |
KAZAL
|
438 |
486 |
2.18e0 |
SMART |
transmembrane domain
|
600 |
622 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111825
AA Change: S402T
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000137607 Gene: ENSMUSG00000063975 AA Change: S402T
Domain | Start | End | E-Value | Type |
Pfam:MFS_1
|
22 |
420 |
5.8e-30 |
PFAM |
KAZAL
|
438 |
486 |
2.18e0 |
SMART |
transmembrane domain
|
600 |
622 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153268
|
SMART Domains |
Protein: ENSMUSP00000124829 Gene: ENSMUSG00000063975
Domain | Start | End | E-Value | Type |
Pfam:OATP
|
19 |
74 |
3.4e-16 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a sodium-independent transporter which mediates cellular uptake of organic ions in the liver. Its substrates include bile acids, bromosulphophthalein, and some steroidal compounds. The protein is a member of the SLC21A family of solute carriers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2008] PHENOTYPE: Homozygous mutation of this gene results in decreased percentage of CD8 ells and increased percentage of B cells in the peripheral blood. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca3 |
G |
C |
17: 24,583,932 (GRCm39) |
|
probably null |
Het |
Ankrd17 |
C |
G |
5: 90,443,516 (GRCm39) |
E384Q |
possibly damaging |
Het |
Atp8b4 |
A |
T |
2: 126,245,291 (GRCm39) |
V286E |
possibly damaging |
Het |
BC028528 |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
3: 95,795,448 (GRCm39) |
|
probably benign |
Het |
BC028528 |
ACTGGTTCTGTGGTC |
ACTGGTTCTGTGGTCTCTGGTTCTGTGGTC |
3: 95,795,481 (GRCm39) |
|
probably benign |
Het |
Brms1l |
T |
C |
12: 55,892,084 (GRCm39) |
L126P |
probably damaging |
Het |
C2cd4d |
G |
A |
3: 94,271,657 (GRCm39) |
V308M |
possibly damaging |
Het |
Calcr |
A |
G |
6: 3,708,586 (GRCm39) |
L200S |
probably damaging |
Het |
Card6 |
G |
T |
15: 5,128,682 (GRCm39) |
Q905K |
probably benign |
Het |
Chka |
A |
G |
19: 3,942,787 (GRCm39) |
Y415C |
probably damaging |
Het |
Cimap3 |
T |
C |
3: 105,921,834 (GRCm39) |
R30G |
probably benign |
Het |
Cnih1 |
C |
T |
14: 47,017,679 (GRCm39) |
V52I |
possibly damaging |
Het |
Cox4i1 |
T |
A |
8: 121,400,770 (GRCm39) |
M145K |
probably damaging |
Het |
Cubn |
G |
T |
2: 13,327,804 (GRCm39) |
R2674S |
possibly damaging |
Het |
Cyfip1 |
A |
G |
7: 55,550,341 (GRCm39) |
E692G |
probably damaging |
Het |
Dnah8 |
T |
C |
17: 30,925,363 (GRCm39) |
F1266S |
probably damaging |
Het |
Edc4 |
T |
C |
8: 106,618,216 (GRCm39) |
S1245P |
probably damaging |
Het |
Enpp1 |
G |
T |
10: 24,587,848 (GRCm39) |
H14Q |
probably benign |
Het |
Fam181b |
G |
A |
7: 92,729,403 (GRCm39) |
V59M |
probably benign |
Het |
Fat4 |
T |
A |
3: 38,941,599 (GRCm39) |
I164N |
probably damaging |
Het |
Fat4 |
A |
G |
3: 39,063,793 (GRCm39) |
D4583G |
probably damaging |
Het |
Fgb |
C |
T |
3: 82,954,014 (GRCm39) |
V75I |
probably benign |
Het |
Fign |
T |
C |
2: 63,809,404 (GRCm39) |
D622G |
probably damaging |
Het |
Frmd3 |
A |
G |
4: 74,063,342 (GRCm39) |
D223G |
probably damaging |
Het |
Gclm |
G |
A |
3: 122,039,729 (GRCm39) |
R32Q |
probably benign |
Het |
Grsf1 |
A |
T |
5: 88,811,086 (GRCm39) |
I428N |
possibly damaging |
Het |
Hnrnpll |
T |
A |
17: 80,357,276 (GRCm39) |
I247F |
probably damaging |
Het |
Hscb |
T |
A |
5: 110,977,024 (GRCm39) |
I223L |
probably benign |
Het |
Ifi204 |
C |
T |
1: 173,583,247 (GRCm39) |
A324T |
probably benign |
Het |
Itgav |
G |
A |
2: 83,624,602 (GRCm39) |
V731M |
probably damaging |
Het |
Loricrin |
C |
T |
3: 91,989,206 (GRCm39) |
G27S |
unknown |
Het |
Lpin3 |
A |
G |
2: 160,740,586 (GRCm39) |
D377G |
probably benign |
Het |
Marveld3 |
A |
G |
8: 110,675,100 (GRCm39) |
S239P |
possibly damaging |
Het |
Mast3 |
A |
C |
8: 71,232,947 (GRCm39) |
C1122G |
probably damaging |
Het |
Ms4a4d |
A |
G |
19: 11,535,297 (GRCm39) |
I198M |
probably benign |
Het |
Mup14 |
C |
T |
4: 61,259,447 (GRCm39) |
G35E |
probably damaging |
Het |
Myh1 |
C |
T |
11: 67,096,393 (GRCm39) |
Q291* |
probably null |
Het |
Myo1a |
T |
A |
10: 127,542,716 (GRCm39) |
V118E |
probably damaging |
Het |
Nfatc3 |
A |
G |
8: 106,835,035 (GRCm39) |
T794A |
probably benign |
Het |
Nkx6-2 |
T |
C |
7: 139,161,916 (GRCm39) |
T154A |
probably damaging |
Het |
Or51g2 |
A |
T |
7: 102,622,969 (GRCm39) |
S77T |
probably damaging |
Het |
Or7g16 |
T |
C |
9: 18,726,650 (GRCm39) |
*313W |
probably null |
Het |
Ovgp1 |
G |
C |
3: 105,893,618 (GRCm39) |
A464P |
probably damaging |
Het |
Ovgp1 |
C |
T |
3: 105,893,619 (GRCm39) |
A464V |
possibly damaging |
Het |
Pde6c |
T |
A |
19: 38,129,887 (GRCm39) |
Y266N |
probably damaging |
Het |
Per2 |
C |
A |
1: 91,351,705 (GRCm39) |
E934* |
probably null |
Het |
Pgm1 |
T |
A |
4: 99,813,192 (GRCm39) |
M1K |
probably null |
Het |
Plcb4 |
T |
C |
2: 135,810,242 (GRCm39) |
Y626H |
probably damaging |
Het |
Postn |
T |
A |
3: 54,277,623 (GRCm39) |
V206D |
probably damaging |
Het |
Prss29 |
T |
A |
17: 25,540,113 (GRCm39) |
|
probably null |
Het |
Ptges3l |
C |
A |
11: 101,314,641 (GRCm39) |
V85L |
possibly damaging |
Het |
Riok2 |
T |
C |
17: 17,607,802 (GRCm39) |
L450S |
probably benign |
Het |
Rpap3 |
A |
T |
15: 97,586,031 (GRCm39) |
L320Q |
possibly damaging |
Het |
Rptor |
T |
C |
11: 119,737,654 (GRCm39) |
W576R |
probably damaging |
Het |
Sgk3 |
A |
G |
1: 9,942,483 (GRCm39) |
D85G |
probably benign |
Het |
Slc2a1 |
A |
G |
4: 118,993,510 (GRCm39) |
Y449C |
probably damaging |
Het |
Smad2 |
T |
A |
18: 76,421,151 (GRCm39) |
V160E |
probably damaging |
Het |
Snx13 |
T |
C |
12: 35,183,357 (GRCm39) |
V760A |
possibly damaging |
Het |
Sugt1 |
T |
A |
14: 79,857,241 (GRCm39) |
|
probably null |
Het |
Syne2 |
C |
T |
12: 75,980,770 (GRCm39) |
T1509M |
probably damaging |
Het |
Syne2 |
T |
A |
12: 76,087,184 (GRCm39) |
L214* |
probably null |
Het |
Tmem120a |
T |
A |
5: 135,764,990 (GRCm39) |
|
probably null |
Het |
Tmem161b |
A |
G |
13: 84,430,866 (GRCm39) |
|
probably null |
Het |
Trim33 |
T |
C |
3: 103,218,219 (GRCm39) |
I256T |
possibly damaging |
Het |
Tspan17 |
G |
A |
13: 54,943,785 (GRCm39) |
E213K |
probably benign |
Het |
Ttc6 |
T |
A |
12: 57,704,888 (GRCm39) |
I631N |
probably benign |
Het |
Ttn |
T |
A |
2: 76,641,283 (GRCm39) |
L13574F |
probably damaging |
Het |
Tufm |
A |
G |
7: 126,088,299 (GRCm39) |
D228G |
probably benign |
Het |
Usf1 |
T |
A |
1: 171,245,295 (GRCm39) |
S236T |
probably benign |
Het |
Usp39 |
T |
C |
6: 72,319,900 (GRCm39) |
Y106C |
probably damaging |
Het |
Usp46 |
T |
A |
5: 74,163,849 (GRCm39) |
Y296F |
probably damaging |
Het |
Vmn2r82 |
A |
G |
10: 79,217,087 (GRCm39) |
N473S |
probably damaging |
Het |
Washc5 |
A |
T |
15: 59,241,762 (GRCm39) |
Y51* |
probably null |
Het |
Zbtb47 |
G |
A |
9: 121,592,732 (GRCm39) |
D351N |
probably benign |
Het |
Zfp763 |
T |
A |
17: 33,238,506 (GRCm39) |
Y213F |
possibly damaging |
Het |
Zswim5 |
A |
G |
4: 116,833,054 (GRCm39) |
T596A |
possibly damaging |
Het |
|
Other mutations in Slco1a5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01304:Slco1a5
|
APN |
6 |
142,187,876 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01432:Slco1a5
|
APN |
6 |
142,182,012 (GRCm39) |
missense |
possibly damaging |
0.59 |
IGL01590:Slco1a5
|
APN |
6 |
142,196,045 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01824:Slco1a5
|
APN |
6 |
142,198,763 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01915:Slco1a5
|
APN |
6 |
142,189,599 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01945:Slco1a5
|
APN |
6 |
142,189,715 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL02078:Slco1a5
|
APN |
6 |
142,200,172 (GRCm39) |
missense |
probably benign |
0.30 |
IGL02178:Slco1a5
|
APN |
6 |
142,208,414 (GRCm39) |
nonsense |
probably null |
|
IGL02366:Slco1a5
|
APN |
6 |
142,195,941 (GRCm39) |
missense |
possibly damaging |
0.57 |
IGL02395:Slco1a5
|
APN |
6 |
142,221,213 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02621:Slco1a5
|
APN |
6 |
142,187,741 (GRCm39) |
missense |
probably benign |
0.10 |
IGL02752:Slco1a5
|
APN |
6 |
142,208,438 (GRCm39) |
missense |
probably benign |
0.07 |
IGL02940:Slco1a5
|
APN |
6 |
142,187,731 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03065:Slco1a5
|
APN |
6 |
142,194,569 (GRCm39) |
splice site |
probably benign |
|
IGL03377:Slco1a5
|
APN |
6 |
142,180,492 (GRCm39) |
missense |
probably benign |
0.01 |
R0017:Slco1a5
|
UTSW |
6 |
142,182,061 (GRCm39) |
splice site |
probably benign |
|
R0017:Slco1a5
|
UTSW |
6 |
142,182,061 (GRCm39) |
splice site |
probably benign |
|
R0230:Slco1a5
|
UTSW |
6 |
142,182,054 (GRCm39) |
splice site |
probably benign |
|
R0690:Slco1a5
|
UTSW |
6 |
142,214,004 (GRCm39) |
missense |
probably benign |
0.24 |
R1217:Slco1a5
|
UTSW |
6 |
142,200,100 (GRCm39) |
missense |
probably damaging |
0.98 |
R1900:Slco1a5
|
UTSW |
6 |
142,187,789 (GRCm39) |
missense |
probably benign |
0.44 |
R2084:Slco1a5
|
UTSW |
6 |
142,180,437 (GRCm39) |
missense |
probably benign |
0.32 |
R2393:Slco1a5
|
UTSW |
6 |
142,194,501 (GRCm39) |
missense |
possibly damaging |
0.85 |
R2414:Slco1a5
|
UTSW |
6 |
142,181,976 (GRCm39) |
missense |
probably damaging |
1.00 |
R2760:Slco1a5
|
UTSW |
6 |
142,195,997 (GRCm39) |
missense |
probably benign |
0.00 |
R3420:Slco1a5
|
UTSW |
6 |
142,213,964 (GRCm39) |
missense |
possibly damaging |
0.61 |
R3421:Slco1a5
|
UTSW |
6 |
142,213,964 (GRCm39) |
missense |
possibly damaging |
0.61 |
R3827:Slco1a5
|
UTSW |
6 |
142,198,975 (GRCm39) |
missense |
probably damaging |
0.97 |
R3963:Slco1a5
|
UTSW |
6 |
142,194,370 (GRCm39) |
critical splice donor site |
probably null |
|
R3977:Slco1a5
|
UTSW |
6 |
142,204,698 (GRCm39) |
splice site |
probably benign |
|
R4074:Slco1a5
|
UTSW |
6 |
142,213,950 (GRCm39) |
missense |
possibly damaging |
0.88 |
R4075:Slco1a5
|
UTSW |
6 |
142,213,950 (GRCm39) |
missense |
possibly damaging |
0.88 |
R4076:Slco1a5
|
UTSW |
6 |
142,213,950 (GRCm39) |
missense |
possibly damaging |
0.88 |
R4782:Slco1a5
|
UTSW |
6 |
142,194,533 (GRCm39) |
missense |
possibly damaging |
0.82 |
R4799:Slco1a5
|
UTSW |
6 |
142,194,533 (GRCm39) |
missense |
possibly damaging |
0.82 |
R4831:Slco1a5
|
UTSW |
6 |
142,180,431 (GRCm39) |
missense |
probably benign |
|
R5038:Slco1a5
|
UTSW |
6 |
142,212,090 (GRCm39) |
missense |
probably damaging |
1.00 |
R5038:Slco1a5
|
UTSW |
6 |
142,208,363 (GRCm39) |
missense |
probably benign |
0.01 |
R5063:Slco1a5
|
UTSW |
6 |
142,204,791 (GRCm39) |
missense |
probably damaging |
1.00 |
R5273:Slco1a5
|
UTSW |
6 |
142,187,824 (GRCm39) |
missense |
probably benign |
0.00 |
R5436:Slco1a5
|
UTSW |
6 |
142,200,118 (GRCm39) |
missense |
probably damaging |
1.00 |
R5579:Slco1a5
|
UTSW |
6 |
142,187,851 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5602:Slco1a5
|
UTSW |
6 |
142,221,255 (GRCm39) |
start gained |
probably benign |
|
R5643:Slco1a5
|
UTSW |
6 |
142,183,320 (GRCm39) |
splice site |
probably null |
|
R5644:Slco1a5
|
UTSW |
6 |
142,183,320 (GRCm39) |
splice site |
probably null |
|
R5686:Slco1a5
|
UTSW |
6 |
142,182,033 (GRCm39) |
missense |
probably damaging |
1.00 |
R5699:Slco1a5
|
UTSW |
6 |
142,194,542 (GRCm39) |
missense |
probably damaging |
0.96 |
R5792:Slco1a5
|
UTSW |
6 |
142,187,839 (GRCm39) |
missense |
probably damaging |
1.00 |
R5938:Slco1a5
|
UTSW |
6 |
142,194,443 (GRCm39) |
missense |
probably damaging |
0.97 |
R5997:Slco1a5
|
UTSW |
6 |
142,198,839 (GRCm39) |
missense |
probably benign |
0.19 |
R6146:Slco1a5
|
UTSW |
6 |
142,180,534 (GRCm39) |
missense |
probably benign |
|
R6377:Slco1a5
|
UTSW |
6 |
142,187,906 (GRCm39) |
splice site |
probably null |
|
R6466:Slco1a5
|
UTSW |
6 |
142,183,260 (GRCm39) |
missense |
probably benign |
0.01 |
R6523:Slco1a5
|
UTSW |
6 |
142,212,121 (GRCm39) |
missense |
probably damaging |
1.00 |
R7092:Slco1a5
|
UTSW |
6 |
142,194,401 (GRCm39) |
missense |
probably benign |
|
R7207:Slco1a5
|
UTSW |
6 |
142,194,475 (GRCm39) |
nonsense |
probably null |
|
R7356:Slco1a5
|
UTSW |
6 |
142,180,458 (GRCm39) |
missense |
probably benign |
0.01 |
R7445:Slco1a5
|
UTSW |
6 |
142,204,734 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7499:Slco1a5
|
UTSW |
6 |
142,208,257 (GRCm39) |
splice site |
probably null |
|
R7579:Slco1a5
|
UTSW |
6 |
142,221,207 (GRCm39) |
missense |
probably benign |
0.00 |
R8117:Slco1a5
|
UTSW |
6 |
142,208,418 (GRCm39) |
missense |
probably damaging |
1.00 |
R8209:Slco1a5
|
UTSW |
6 |
142,208,408 (GRCm39) |
missense |
probably damaging |
1.00 |
R8217:Slco1a5
|
UTSW |
6 |
142,221,202 (GRCm39) |
missense |
probably benign |
0.13 |
R8358:Slco1a5
|
UTSW |
6 |
142,208,411 (GRCm39) |
missense |
probably benign |
0.45 |
R8710:Slco1a5
|
UTSW |
6 |
142,198,828 (GRCm39) |
missense |
probably benign |
0.03 |
R9071:Slco1a5
|
UTSW |
6 |
142,196,052 (GRCm39) |
missense |
possibly damaging |
0.50 |
R9316:Slco1a5
|
UTSW |
6 |
142,195,935 (GRCm39) |
missense |
probably damaging |
0.99 |
R9427:Slco1a5
|
UTSW |
6 |
142,214,001 (GRCm39) |
missense |
probably damaging |
0.98 |
R9619:Slco1a5
|
UTSW |
6 |
142,198,846 (GRCm39) |
missense |
probably benign |
0.13 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGCTATAGGATTGATGGGTAGAC -3'
(R):5'- CCTCTTTGTATATAATAGGCAAGCGAG -3'
Sequencing Primer
(F):5'- TACAAGAAAAACATGGATCACTGC -3'
(R):5'- GCGAGTAGGATTTAAAATCATTTGC -3'
|
Posted On |
2019-10-07 |