Incidental Mutation 'R9427:Slco1a5'
| ID |
712674 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R9427 (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 G
at 142214001 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 40
(M40T)
|
| 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 damaging
Transcript: ENSMUST00000081380
AA Change: M40T
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000080116
Gene: ENSMUSG00000063975
AA Change: M40T
| 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 damaging
Transcript: ENSMUST00000111825
AA Change: M40T
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000137607
Gene: ENSMUSG00000063975
AA Change: M40T
| 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: M40T
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000124829
Gene: ENSMUSG00000063975
AA Change: M40T
| 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: 98.4%
|
| 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 |
|---|
| Abtb2 |
T |
C |
2: 103,531,244 (GRCm39) |
L458P |
probably damaging |
Het |
| Adgrl2 |
T |
C |
3: 148,526,068 (GRCm39) |
N130S |
|
Het |
| Adgrv1 |
T |
C |
13: 81,732,234 (GRCm39) |
S161G |
probably benign |
Het |
| Aldh1l1 |
A |
G |
6: 90,536,903 (GRCm39) |
D153G |
probably benign |
Het |
| Arhgap20 |
G |
A |
9: 51,754,991 (GRCm39) |
S444N |
probably damaging |
Het |
| Bpifc |
A |
G |
10: 85,812,129 (GRCm39) |
F360L |
probably benign |
Het |
| Cacna1s |
A |
T |
1: 136,012,090 (GRCm39) |
I511F |
probably benign |
Het |
| Chdh |
G |
A |
14: 29,758,806 (GRCm39) |
V584I |
probably benign |
Het |
| Col12a1 |
T |
C |
9: 79,589,445 (GRCm39) |
R1037G |
probably benign |
Het |
| Col15a1 |
G |
C |
4: 47,288,200 (GRCm39) |
|
probably benign |
Het |
| Col6a5 |
T |
C |
9: 105,816,992 (GRCm39) |
N440D |
unknown |
Het |
| Dsel |
A |
T |
1: 111,787,425 (GRCm39) |
Y1037N |
probably damaging |
Het |
| Eloa |
A |
G |
4: 135,748,935 (GRCm39) |
M1T |
probably null |
Het |
| Elp2 |
C |
G |
18: 24,755,560 (GRCm39) |
P436A |
probably damaging |
Het |
| Etv5 |
A |
C |
16: 22,218,112 (GRCm39) |
S328A |
probably damaging |
Het |
| Fat3 |
A |
T |
9: 16,288,691 (GRCm39) |
Y277* |
probably null |
Het |
| Fbxo38 |
A |
T |
18: 62,644,160 (GRCm39) |
H899Q |
probably benign |
Het |
| Fstl5 |
T |
C |
3: 76,229,583 (GRCm39) |
V128A |
|
Het |
| Gm3371 |
T |
C |
14: 44,641,066 (GRCm39) |
E166G |
|
Het |
| Herc6 |
T |
C |
6: 57,636,722 (GRCm39) |
S813P |
probably damaging |
Het |
| Ifnlr1 |
G |
A |
4: 135,426,142 (GRCm39) |
G75D |
probably damaging |
Het |
| Kbtbd2 |
A |
T |
6: 56,756,132 (GRCm39) |
C535S |
probably damaging |
Het |
| Lgr5 |
A |
C |
10: 115,288,913 (GRCm39) |
L577W |
probably damaging |
Het |
| Limk1 |
A |
T |
5: 134,686,358 (GRCm39) |
D590E |
probably benign |
Het |
| Lnpep |
A |
T |
17: 17,795,609 (GRCm39) |
S301T |
probably benign |
Het |
| Lrch1 |
A |
C |
14: 75,032,787 (GRCm39) |
V521G |
probably benign |
Het |
| Lrrc71 |
T |
C |
3: 87,650,368 (GRCm39) |
H235R |
probably benign |
Het |
| Mttp |
A |
G |
3: 137,820,962 (GRCm39) |
S282P |
probably benign |
Het |
| Nup210l |
C |
T |
3: 90,107,173 (GRCm39) |
P1570L |
probably benign |
Het |
| Or2t1 |
G |
A |
14: 14,328,456 (GRCm38) |
G115D |
probably damaging |
Het |
| Or55b10 |
T |
A |
7: 102,143,206 (GRCm39) |
T259S |
probably benign |
Het |
| Or5a3 |
T |
C |
19: 12,399,889 (GRCm39) |
V72A |
|
Het |
| Or5m13 |
T |
C |
2: 85,748,704 (GRCm39) |
V145A |
probably benign |
Het |
| Or7a41 |
C |
T |
10: 78,871,395 (GRCm39) |
T255I |
probably damaging |
Het |
| Or7c70 |
A |
G |
10: 78,682,906 (GRCm39) |
V281A |
probably damaging |
Het |
| Pira12 |
T |
G |
7: 3,897,284 (GRCm39) |
|
probably null |
Het |
| Ppfia3 |
T |
C |
7: 45,008,213 (GRCm39) |
Q219R |
possibly damaging |
Het |
| Prdm5 |
T |
A |
6: 65,771,321 (GRCm39) |
M44K |
possibly damaging |
Het |
| Psmc5 |
T |
C |
11: 106,153,303 (GRCm39) |
I315T |
probably damaging |
Het |
| Ptprd |
T |
A |
4: 76,051,440 (GRCm39) |
E27V |
probably benign |
Het |
| Rft1 |
T |
A |
14: 30,411,781 (GRCm39) |
I443N |
probably damaging |
Het |
| Rsf1 |
G |
GACGGCGGCC |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Svep1 |
T |
C |
4: 58,069,804 (GRCm39) |
T2661A |
possibly damaging |
Het |
| Tigit |
T |
C |
16: 43,482,515 (GRCm39) |
D73G |
probably benign |
Het |
| Tmem237 |
G |
A |
1: 59,159,213 (GRCm39) |
|
probably benign |
Het |
| Trim42 |
T |
C |
9: 97,247,874 (GRCm39) |
D274G |
probably damaging |
Het |
| Trmt61a |
C |
A |
12: 111,647,490 (GRCm39) |
L196I |
probably damaging |
Het |
| Tspan8 |
T |
C |
10: 115,669,213 (GRCm39) |
C83R |
probably damaging |
Het |
| Ttc7 |
CCTGCTGCTGCTGCTGCTG |
CCTGCTGCTGCTGCTG |
17: 87,678,147 (GRCm39) |
|
probably benign |
Het |
| Ttn |
C |
T |
2: 76,715,357 (GRCm39) |
E7912K |
unknown |
Het |
| Unc80 |
G |
A |
1: 66,594,158 (GRCm39) |
G1179E |
probably damaging |
Het |
| Vmn2r2 |
A |
G |
3: 64,041,945 (GRCm39) |
S257P |
probably damaging |
Het |
| Xpo6 |
G |
T |
7: 125,748,418 (GRCm39) |
Y404* |
probably null |
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 |
|
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 |
|
R9619:Slco1a5
|
UTSW |
6 |
142,198,846 (GRCm39) |
missense |
probably benign |
0.13 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGACGCATGTAACTCAGTCAG -3'
(R):5'- TGGCAGAGCAGAGATTACAC -3'
Sequencing Primer
(F):5'- CGCATGTAACTCAGTCAGATTAAAC -3'
(R):5'- AATATTTCTTGCATGTTCAGGGATG -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation