Incidental Mutation 'R5063:Slco1a5'
| ID |
386747 |
| 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 |
042653-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R5063 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
142179953-142268707 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 142204791 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 126
(R126C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124987
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081380]
[ENSMUST00000111825]
[ENSMUST00000128446]
[ENSMUST00000153268]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000081380
AA Change: R168C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000080116
Gene: ENSMUSG00000063975
AA Change: R168C
| 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 |
noncoding transcript
Transcript: ENSMUST00000111822
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111825
AA Change: R168C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000137607
Gene: ENSMUSG00000063975
AA Change: R168C
| 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 damaging
Transcript: ENSMUST00000128446
AA Change: R126C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124987
Gene: ENSMUSG00000063975
AA Change: R126C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OATP
|
1 |
157 |
6.1e-67 |
PFAM |
|
| 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: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.3%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
T |
C |
11: 119,901,315 (GRCm39) |
H970R |
probably benign |
Het |
| Anapc1 |
T |
C |
2: 128,471,469 (GRCm39) |
M1496V |
possibly damaging |
Het |
| Arhgef4 |
A |
T |
1: 34,763,296 (GRCm39) |
T851S |
probably benign |
Het |
| Armh3 |
A |
G |
19: 45,874,394 (GRCm39) |
I593T |
possibly damaging |
Het |
| Cacna1d |
A |
G |
14: 29,773,340 (GRCm39) |
S1782P |
probably benign |
Het |
| Capn13 |
T |
A |
17: 73,629,074 (GRCm39) |
R578* |
probably null |
Het |
| Casp8 |
A |
T |
1: 58,883,533 (GRCm39) |
H280L |
probably damaging |
Het |
| Cd274 |
G |
T |
19: 29,361,543 (GRCm39) |
D284Y |
probably damaging |
Het |
| Cenpe |
T |
A |
3: 134,976,715 (GRCm39) |
C2441S |
probably damaging |
Het |
| Chn2 |
A |
T |
6: 54,267,272 (GRCm39) |
K118* |
probably null |
Het |
| Chst12 |
G |
T |
5: 140,510,167 (GRCm39) |
E265* |
probably null |
Het |
| Cp |
C |
A |
3: 20,043,379 (GRCm39) |
Q22K |
probably benign |
Het |
| Diaph3 |
A |
T |
14: 87,222,306 (GRCm39) |
W404R |
probably damaging |
Het |
| Dnajb13 |
T |
G |
7: 100,160,030 (GRCm39) |
E69A |
probably damaging |
Het |
| Dzip1l |
A |
G |
9: 99,549,705 (GRCm39) |
E725G |
probably damaging |
Het |
| Dzip3 |
T |
A |
16: 48,774,117 (GRCm39) |
K373* |
probably null |
Het |
| Fmn1 |
C |
T |
2: 113,195,266 (GRCm39) |
T322I |
unknown |
Het |
| Gbp9 |
T |
C |
5: 105,233,028 (GRCm39) |
Y208C |
probably benign |
Het |
| Gtf2i |
T |
A |
5: 134,289,425 (GRCm39) |
K418N |
probably damaging |
Het |
| Herc3 |
C |
T |
6: 58,832,745 (GRCm39) |
Q137* |
probably null |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Iqcm |
A |
T |
8: 76,472,914 (GRCm39) |
D251V |
probably damaging |
Het |
| Itpr3 |
A |
T |
17: 27,308,885 (GRCm39) |
I363F |
possibly damaging |
Het |
| Khnyn |
A |
T |
14: 56,124,660 (GRCm39) |
K305* |
probably null |
Het |
| Klf17 |
A |
G |
4: 117,617,856 (GRCm39) |
V167A |
possibly damaging |
Het |
| Letm2 |
T |
C |
8: 26,071,795 (GRCm39) |
D369G |
probably benign |
Het |
| Lrrc31 |
A |
G |
3: 30,744,085 (GRCm39) |
V141A |
possibly damaging |
Het |
| Msh5 |
A |
T |
17: 35,261,164 (GRCm39) |
|
probably null |
Het |
| Neb |
G |
A |
2: 52,113,224 (GRCm39) |
|
probably benign |
Het |
| Or10j5 |
T |
A |
1: 172,785,009 (GRCm39) |
S216T |
possibly damaging |
Het |
| Or2t6 |
A |
T |
14: 14,175,593 (GRCm38) |
M163K |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Padi6 |
T |
C |
4: 140,469,191 (GRCm39) |
I50V |
probably benign |
Het |
| Pcdhb22 |
G |
T |
18: 37,652,179 (GRCm39) |
G216C |
probably damaging |
Het |
| Ppy |
A |
G |
11: 101,991,525 (GRCm39) |
Y5H |
probably benign |
Het |
| Psmc1 |
T |
C |
12: 100,081,734 (GRCm39) |
L112S |
probably damaging |
Het |
| Ptov1 |
A |
G |
7: 44,515,026 (GRCm39) |
I195T |
possibly damaging |
Het |
| Rassf10 |
C |
A |
7: 112,553,631 (GRCm39) |
D77E |
probably benign |
Het |
| Slc25a45 |
T |
C |
19: 5,934,490 (GRCm39) |
S153P |
possibly damaging |
Het |
| Srebf2 |
T |
C |
15: 82,061,652 (GRCm39) |
V366A |
probably benign |
Het |
| St6galnac5 |
T |
C |
3: 152,686,772 (GRCm39) |
S61G |
probably benign |
Het |
| Sult6b1 |
A |
T |
17: 79,213,005 (GRCm39) |
V82D |
probably benign |
Het |
| Tep1 |
A |
T |
14: 51,088,084 (GRCm39) |
C818S |
possibly damaging |
Het |
| Tex15 |
T |
G |
8: 34,072,638 (GRCm39) |
F2728L |
possibly damaging |
Het |
| Tm9sf2 |
T |
A |
14: 122,382,558 (GRCm39) |
F190Y |
probably damaging |
Het |
| Tmem175 |
T |
C |
5: 108,794,298 (GRCm39) |
L476P |
probably damaging |
Het |
| Tmprss11c |
T |
C |
5: 86,385,689 (GRCm39) |
K248R |
probably benign |
Het |
| Tnk2 |
T |
A |
16: 32,489,668 (GRCm39) |
F316I |
probably damaging |
Het |
| Vmn2r75 |
T |
A |
7: 85,813,372 (GRCm39) |
M477L |
probably benign |
Het |
| Vmn2r83 |
A |
C |
10: 79,314,921 (GRCm39) |
I390L |
probably benign |
Het |
| Vmn2r88 |
A |
G |
14: 51,648,603 (GRCm39) |
Y49C |
probably damaging |
Het |
| Zdhhc4 |
T |
A |
5: 143,302,377 (GRCm39) |
I318F |
probably damaging |
Het |
| Zmat4 |
A |
T |
8: 24,238,457 (GRCm39) |
D27V |
probably 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 |
|
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 |
|
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'- TGGTCAACCCTCCTTGAACAATC -3'
(R):5'- TGCTGAATGGTCATGGCCTG -3'
Sequencing Primer
(F):5'- TCTCATGATCTACAGAGGCATAGC -3'
(R):5'- AATGGTCATGGCCTGTAACC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation