Incidental Mutation 'R8217:Slco1a5'
| ID |
636417 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slco1a5
|
| Ensembl Gene |
ENSMUSG00000063975 |
| Gene Name |
solute carrier organic anion transporter family, member 1a5 |
| Synonyms |
Oatp3, Slc21a7 |
| MMRRC Submission |
067658-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
R8217 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
142234227-142322981 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 142275476 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 15
(C15R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080116
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081380]
[ENSMUST00000111825]
[ENSMUST00000128446]
[ENSMUST00000153268]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081380
AA Change: C15R
PolyPhen 2
Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000080116
Gene: ENSMUSG00000063975
AA Change: C15R
| 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: C15R
PolyPhen 2
Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000137607
Gene: ENSMUSG00000063975
AA Change: C15R
| 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: ENSMUST00000128446
|
| SMART Domains |
Protein: ENSMUSP00000124987
Gene: ENSMUSG00000063975
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OATP
|
1 |
157 |
6.1e-67 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000153268
AA Change: C15R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000124829
Gene: ENSMUSG00000063975
AA Change: C15R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OATP
|
19 |
74 |
3.4e-16 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.6%
|
| Validation Efficiency |
98% (48/49) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acrbp |
T |
C |
6: 125,060,958 (GRCm38) |
L406P |
probably damaging |
Het |
| Aph1b |
T |
C |
9: 66,779,272 (GRCm38) |
K239E |
possibly damaging |
Het |
| Atp13a4 |
C |
A |
16: 29,403,801 (GRCm38) |
V1102F |
|
Het |
| B3gat1 |
G |
A |
9: 26,756,869 (GRCm38) |
A265T |
probably damaging |
Het |
| Bod1l |
T |
C |
5: 41,831,507 (GRCm38) |
E419G |
probably damaging |
Het |
| Ccdc142 |
T |
C |
6: 83,103,216 (GRCm38) |
L380P |
probably damaging |
Het |
| Cd55b |
CTTTT |
CTTTTT |
1: 130,419,600 (GRCm38) |
|
probably null |
Het |
| Cfi |
A |
C |
3: 129,855,001 (GRCm38) |
N178T |
possibly damaging |
Het |
| Col5a1 |
T |
A |
2: 27,922,123 (GRCm38) |
D72E |
unknown |
Het |
| Cspg4 |
T |
A |
9: 56,890,353 (GRCm38) |
V1367D |
possibly damaging |
Het |
| D5Ertd579e |
A |
C |
5: 36,614,058 (GRCm38) |
S998A |
probably benign |
Het |
| Ehf |
T |
C |
2: 103,279,631 (GRCm38) |
E77G |
possibly damaging |
Het |
| Erap1 |
T |
C |
13: 74,672,818 (GRCm38) |
I662T |
probably benign |
Het |
| F11r |
GGTGTG |
GGTGTGTG |
1: 171,463,088 (GRCm38) |
|
probably null |
Het |
| Flvcr2 |
GTAGTGTATA |
GTA |
12: 85,803,148 (GRCm38) |
|
probably null |
Het |
| Klhl8 |
A |
G |
5: 103,867,600 (GRCm38) |
V486A |
possibly damaging |
Het |
| Lrrc72 |
A |
T |
12: 36,208,677 (GRCm38) |
D60E |
probably damaging |
Het |
| March5 |
C |
T |
19: 37,207,811 (GRCm38) |
|
probably benign |
Het |
| Mtmr12 |
T |
C |
15: 12,259,640 (GRCm38) |
I365T |
possibly damaging |
Het |
| Myl10 |
G |
C |
5: 136,697,971 (GRCm38) |
V70L |
probably benign |
Het |
| Nod2 |
A |
C |
8: 88,664,157 (GRCm38) |
D364A |
probably benign |
Het |
| Numa1 |
T |
A |
7: 101,992,669 (GRCm38) |
M108K |
possibly damaging |
Het |
| Nutm2 |
G |
T |
13: 50,469,723 (GRCm38) |
R152L |
probably benign |
Het |
| Olfr1048 |
C |
T |
2: 86,236,518 (GRCm38) |
V106M |
probably benign |
Het |
| Olfr299 |
A |
G |
7: 86,466,182 (GRCm38) |
Y257C |
probably damaging |
Het |
| Olfr325 |
A |
T |
11: 58,580,966 (GRCm38) |
M41L |
probably benign |
Het |
| Pak1ip1 |
T |
A |
13: 41,012,650 (GRCm38) |
S350R |
probably benign |
Het |
| Pcdha3 |
T |
C |
18: 36,946,921 (GRCm38) |
F239L |
probably damaging |
Het |
| Perm1 |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
4: 156,218,068 (GRCm38) |
|
probably benign |
Het |
| Pkm |
C |
T |
9: 59,678,809 (GRCm38) |
T524I |
possibly damaging |
Het |
| Plekhg2 |
T |
A |
7: 28,368,292 (GRCm38) |
Q245L |
probably null |
Het |
| Pola2 |
T |
A |
19: 5,963,827 (GRCm38) |
K26N |
possibly damaging |
Het |
| Prune2 |
G |
T |
19: 17,120,116 (GRCm38) |
A995S |
probably benign |
Het |
| Rap2b |
C |
A |
3: 61,365,130 (GRCm38) |
T25K |
possibly damaging |
Het |
| Scrib |
A |
G |
15: 76,067,155 (GRCm38) |
S165P |
probably damaging |
Het |
| Sdk1 |
A |
T |
5: 142,211,958 (GRCm38) |
H2122L |
possibly damaging |
Het |
| Sec24b |
A |
T |
3: 130,040,950 (GRCm38) |
F200I |
possibly damaging |
Het |
| Sh3rf1 |
T |
C |
8: 61,329,930 (GRCm38) |
V226A |
possibly damaging |
Het |
| Sik1 |
T |
A |
17: 31,851,312 (GRCm38) |
H141L |
probably damaging |
Het |
| Slc9a5 |
A |
T |
8: 105,363,324 (GRCm38) |
E638V |
probably damaging |
Het |
| Slit1 |
C |
T |
19: 41,624,520 (GRCm38) |
D854N |
possibly damaging |
Het |
| Tcof1 |
G |
C |
18: 60,829,051 (GRCm38) |
A702G |
possibly damaging |
Het |
| Tec |
A |
T |
5: 72,764,259 (GRCm38) |
M372K |
probably benign |
Het |
| Tlr2 |
A |
G |
3: 83,838,066 (GRCm38) |
F237L |
probably benign |
Het |
| Trio |
A |
T |
15: 27,818,969 (GRCm38) |
L1597Q |
probably damaging |
Het |
| Trpa1 |
A |
T |
1: 14,887,023 (GRCm38) |
M723K |
probably damaging |
Het |
| Ttc21a |
T |
C |
9: 119,954,628 (GRCm38) |
I592T |
probably benign |
Het |
| Vmn2r94 |
T |
C |
17: 18,243,724 (GRCm38) |
E768G |
probably damaging |
Het |
| Zfhx3 |
A |
G |
8: 108,950,717 (GRCm38) |
T2800A |
probably benign |
Het |
| Zpld1 |
A |
G |
16: 55,226,932 (GRCm38) |
|
probably null |
Het |
|
| Other mutations in Slco1a5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01304:Slco1a5
|
APN |
6 |
142,242,150 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01432:Slco1a5
|
APN |
6 |
142,236,286 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
IGL01590:Slco1a5
|
APN |
6 |
142,250,319 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01824:Slco1a5
|
APN |
6 |
142,253,037 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01915:Slco1a5
|
APN |
6 |
142,243,873 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01945:Slco1a5
|
APN |
6 |
142,243,989 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
IGL02078:Slco1a5
|
APN |
6 |
142,254,446 (GRCm38) |
missense |
probably benign |
0.30 |
|
IGL02178:Slco1a5
|
APN |
6 |
142,262,688 (GRCm38) |
nonsense |
probably null |
|
|
IGL02366:Slco1a5
|
APN |
6 |
142,250,215 (GRCm38) |
missense |
possibly damaging |
0.57 |
|
IGL02395:Slco1a5
|
APN |
6 |
142,275,487 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02621:Slco1a5
|
APN |
6 |
142,242,015 (GRCm38) |
missense |
probably benign |
0.10 |
|
IGL02752:Slco1a5
|
APN |
6 |
142,262,712 (GRCm38) |
missense |
probably benign |
0.07 |
|
IGL02940:Slco1a5
|
APN |
6 |
142,242,005 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03065:Slco1a5
|
APN |
6 |
142,248,843 (GRCm38) |
splice site |
probably benign |
|
|
IGL03377:Slco1a5
|
APN |
6 |
142,234,766 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0017:Slco1a5
|
UTSW |
6 |
142,236,335 (GRCm38) |
splice site |
probably benign |
|
|
R0017:Slco1a5
|
UTSW |
6 |
142,236,335 (GRCm38) |
splice site |
probably benign |
|
|
R0230:Slco1a5
|
UTSW |
6 |
142,236,328 (GRCm38) |
splice site |
probably benign |
|
|
R0690:Slco1a5
|
UTSW |
6 |
142,268,278 (GRCm38) |
missense |
probably benign |
0.24 |
|
R1217:Slco1a5
|
UTSW |
6 |
142,254,374 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1900:Slco1a5
|
UTSW |
6 |
142,242,063 (GRCm38) |
missense |
probably benign |
0.44 |
|
R2084:Slco1a5
|
UTSW |
6 |
142,234,711 (GRCm38) |
missense |
probably benign |
0.32 |
|
R2393:Slco1a5
|
UTSW |
6 |
142,248,775 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R2414:Slco1a5
|
UTSW |
6 |
142,236,250 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2760:Slco1a5
|
UTSW |
6 |
142,250,271 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3420:Slco1a5
|
UTSW |
6 |
142,268,238 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R3421:Slco1a5
|
UTSW |
6 |
142,268,238 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R3827:Slco1a5
|
UTSW |
6 |
142,253,249 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R3963:Slco1a5
|
UTSW |
6 |
142,248,644 (GRCm38) |
critical splice donor site |
probably null |
|
|
R3977:Slco1a5
|
UTSW |
6 |
142,258,972 (GRCm38) |
splice site |
probably benign |
|
|
R4074:Slco1a5
|
UTSW |
6 |
142,268,224 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R4075:Slco1a5
|
UTSW |
6 |
142,268,224 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R4076:Slco1a5
|
UTSW |
6 |
142,268,224 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R4782:Slco1a5
|
UTSW |
6 |
142,248,807 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R4799:Slco1a5
|
UTSW |
6 |
142,248,807 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R4831:Slco1a5
|
UTSW |
6 |
142,234,705 (GRCm38) |
missense |
probably benign |
|
|
R5038:Slco1a5
|
UTSW |
6 |
142,266,364 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5038:Slco1a5
|
UTSW |
6 |
142,262,637 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5063:Slco1a5
|
UTSW |
6 |
142,259,065 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5273:Slco1a5
|
UTSW |
6 |
142,242,098 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5436:Slco1a5
|
UTSW |
6 |
142,254,392 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5579:Slco1a5
|
UTSW |
6 |
142,242,125 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R5602:Slco1a5
|
UTSW |
6 |
142,275,529 (GRCm38) |
start gained |
probably benign |
|
|
R5643:Slco1a5
|
UTSW |
6 |
142,237,594 (GRCm38) |
splice site |
probably null |
|
|
R5644:Slco1a5
|
UTSW |
6 |
142,237,594 (GRCm38) |
splice site |
probably null |
|
|
R5686:Slco1a5
|
UTSW |
6 |
142,236,307 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5699:Slco1a5
|
UTSW |
6 |
142,248,816 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5792:Slco1a5
|
UTSW |
6 |
142,242,113 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5938:Slco1a5
|
UTSW |
6 |
142,248,717 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R5997:Slco1a5
|
UTSW |
6 |
142,253,113 (GRCm38) |
missense |
probably benign |
0.19 |
|
R6146:Slco1a5
|
UTSW |
6 |
142,234,808 (GRCm38) |
missense |
probably benign |
|
|
R6377:Slco1a5
|
UTSW |
6 |
142,242,180 (GRCm38) |
splice site |
probably null |
|
|
R6466:Slco1a5
|
UTSW |
6 |
142,237,534 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6523:Slco1a5
|
UTSW |
6 |
142,266,395 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7092:Slco1a5
|
UTSW |
6 |
142,248,675 (GRCm38) |
missense |
probably benign |
|
|
R7207:Slco1a5
|
UTSW |
6 |
142,248,749 (GRCm38) |
nonsense |
probably null |
|
|
R7356:Slco1a5
|
UTSW |
6 |
142,234,732 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7430:Slco1a5
|
UTSW |
6 |
142,248,712 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7445:Slco1a5
|
UTSW |
6 |
142,259,008 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R7499:Slco1a5
|
UTSW |
6 |
142,262,531 (GRCm38) |
splice site |
probably null |
|
|
R7579:Slco1a5
|
UTSW |
6 |
142,275,481 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8117:Slco1a5
|
UTSW |
6 |
142,262,692 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8209:Slco1a5
|
UTSW |
6 |
142,262,682 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8358:Slco1a5
|
UTSW |
6 |
142,262,685 (GRCm38) |
missense |
probably benign |
0.45 |
|
R8710:Slco1a5
|
UTSW |
6 |
142,253,102 (GRCm38) |
missense |
probably benign |
0.03 |
|
R9071:Slco1a5
|
UTSW |
6 |
142,250,326 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R9316:Slco1a5
|
UTSW |
6 |
142,250,209 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9427:Slco1a5
|
UTSW |
6 |
142,268,275 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9619:Slco1a5
|
UTSW |
6 |
142,253,120 (GRCm38) |
missense |
probably benign |
0.13 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCTGAATAATCCTGGAAAGACATC -3'
(R):5'- CTAGCCCTAAGAGAACACTTGC -3'
Sequencing Primer
(F):5'- GGCAAGGCTTTCATGTTG -3'
(R):5'- GCCCTAAGAGAACACTTGCTGTTTG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation