Incidental Mutation 'R6466:Slco1a5'
ID |
516576 |
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 |
044599-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
R6466 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
142179953-142268707 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 142183260 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 555
(T555A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000137607
(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: T555A
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000080116 Gene: ENSMUSG00000063975 AA Change: T555A
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: T555A
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000137607 Gene: ENSMUSG00000063975 AA Change: T555A
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157614
|
Meta Mutation Damage Score |
0.0987 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.3%
- 20x: 91.1%
|
Validation Efficiency |
98% (56/57) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1190005I06Rik |
A |
T |
8: 121,335,735 (GRCm39) |
D69E |
probably damaging |
Het |
AAdacl4fm3 |
T |
A |
4: 144,430,437 (GRCm39) |
D184V |
probably damaging |
Het |
Adgrv1 |
G |
T |
13: 81,723,220 (GRCm39) |
|
probably null |
Het |
Ahr |
A |
T |
12: 35,554,031 (GRCm39) |
V696E |
probably benign |
Het |
Akap13 |
A |
G |
7: 75,376,792 (GRCm39) |
T2007A |
probably benign |
Het |
Arid1b |
T |
C |
17: 5,377,953 (GRCm39) |
F753S |
probably damaging |
Het |
Bpifb3 |
G |
T |
2: 153,764,108 (GRCm39) |
K105N |
probably damaging |
Het |
C2cd2 |
A |
G |
16: 97,680,822 (GRCm39) |
C331R |
probably benign |
Het |
Chrm1 |
T |
A |
19: 8,655,542 (GRCm39) |
Y82* |
probably null |
Het |
Clcn3 |
A |
C |
8: 61,382,595 (GRCm39) |
V331G |
probably damaging |
Het |
Dchs1 |
A |
T |
7: 105,413,748 (GRCm39) |
D1022E |
probably benign |
Het |
Dnah2 |
T |
A |
11: 69,430,241 (GRCm39) |
T106S |
probably benign |
Het |
Fam171a2 |
T |
A |
11: 102,330,711 (GRCm39) |
D256V |
probably damaging |
Het |
Firrm |
G |
T |
1: 163,781,734 (GRCm39) |
R898S |
probably benign |
Het |
Fmn2 |
T |
A |
1: 174,437,149 (GRCm39) |
|
probably benign |
Het |
Fut11 |
C |
T |
14: 20,745,377 (GRCm39) |
R103W |
probably damaging |
Het |
Gas2l2 |
A |
C |
11: 83,320,179 (GRCm39) |
S26A |
probably damaging |
Het |
Gramd1a |
A |
T |
7: 30,843,221 (GRCm39) |
I29N |
probably benign |
Het |
Grem2 |
A |
G |
1: 174,664,450 (GRCm39) |
V133A |
probably damaging |
Het |
Hydin |
T |
A |
8: 111,233,600 (GRCm39) |
S1813T |
possibly damaging |
Het |
Igkv3-2 |
T |
C |
6: 70,676,023 (GRCm39) |
F111L |
probably benign |
Het |
Ints8 |
T |
C |
4: 11,252,878 (GRCm39) |
Q68R |
probably damaging |
Het |
Irx5 |
A |
G |
8: 93,086,354 (GRCm39) |
I146V |
probably damaging |
Het |
Kcnh3 |
T |
C |
15: 99,136,124 (GRCm39) |
L707P |
probably damaging |
Het |
Kcnk4 |
T |
A |
19: 6,905,665 (GRCm39) |
I101F |
probably damaging |
Het |
Klhl9 |
A |
G |
4: 88,639,399 (GRCm39) |
Y281H |
probably benign |
Het |
Klra9 |
G |
T |
6: 130,155,995 (GRCm39) |
Y253* |
probably null |
Het |
Lmbr1 |
C |
T |
5: 29,583,166 (GRCm39) |
A9T |
probably benign |
Het |
Map10 |
G |
T |
8: 126,399,123 (GRCm39) |
E839* |
probably null |
Het |
Nectin4 |
C |
A |
1: 171,214,321 (GRCm39) |
A492D |
probably damaging |
Het |
Nfat5 |
T |
A |
8: 108,082,140 (GRCm39) |
|
probably null |
Het |
Or5p5 |
A |
G |
7: 107,413,901 (GRCm39) |
T37A |
probably benign |
Het |
Plec |
A |
G |
15: 76,062,084 (GRCm39) |
Y2608H |
probably benign |
Het |
Pold3 |
A |
G |
7: 99,749,839 (GRCm39) |
S42P |
probably benign |
Het |
Ppp2r1a |
G |
T |
17: 21,180,893 (GRCm39) |
G432* |
probably null |
Het |
Qki |
T |
C |
17: 10,434,394 (GRCm39) |
E315G |
probably benign |
Het |
Rfx2 |
C |
T |
17: 57,091,397 (GRCm39) |
V354I |
probably benign |
Het |
Rp1 |
T |
C |
1: 4,418,109 (GRCm39) |
Y1001C |
probably benign |
Het |
Sez6l |
A |
G |
5: 112,609,007 (GRCm39) |
|
probably null |
Het |
Slc39a14 |
A |
G |
14: 70,547,335 (GRCm39) |
I337T |
probably damaging |
Het |
Slc3a2 |
G |
T |
19: 8,686,683 (GRCm39) |
L76M |
probably damaging |
Het |
Sprr2e |
A |
T |
3: 92,260,341 (GRCm39) |
K57N |
unknown |
Het |
Syne2 |
A |
G |
12: 75,990,675 (GRCm39) |
T1886A |
probably damaging |
Het |
Tenm3 |
A |
T |
8: 48,689,098 (GRCm39) |
I2147N |
probably damaging |
Het |
Thbs1 |
G |
T |
2: 117,950,328 (GRCm39) |
G654W |
probably damaging |
Het |
Tigd5 |
A |
G |
15: 75,782,352 (GRCm39) |
Y238C |
possibly damaging |
Het |
Tmem221 |
A |
G |
8: 72,010,493 (GRCm39) |
F126S |
probably damaging |
Het |
Trp63 |
C |
A |
16: 25,582,108 (GRCm39) |
P52Q |
probably damaging |
Het |
Ugp2 |
A |
T |
11: 21,278,883 (GRCm39) |
S434R |
probably benign |
Het |
Vmn2r69 |
A |
C |
7: 85,056,378 (GRCm39) |
F587V |
probably benign |
Het |
Vps13d |
T |
A |
4: 144,784,065 (GRCm39) |
N3872I |
possibly damaging |
Het |
Wdfy2 |
A |
G |
14: 63,186,115 (GRCm39) |
Y250C |
probably damaging |
Het |
Zbtb16 |
T |
C |
9: 48,576,619 (GRCm39) |
D487G |
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 |
|
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 |
R7430:Slco1a5
|
UTSW |
6 |
142,194,438 (GRCm39) |
missense |
probably benign |
0.00 |
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'- GGAGAACACACCTATGTTAAAGATG -3'
(R):5'- GCATTAGGATCATGAACTACCAC -3'
Sequencing Primer
(F):5'- GATAACCTGAATCTGTGTGCCCAAG -3'
(R):5'- CTACCACTGTCATTGGGAAGATGC -3'
|
Posted On |
2018-05-21 |