Incidental Mutation 'R5686:Slco1a5'
| ID |
443358 |
| 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 |
043319-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R5686 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
142179953-142268707 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 142182033 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 564
(P564S)
|
| 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 damaging
Transcript: ENSMUST00000081380
AA Change: P564S
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000080116
Gene: ENSMUSG00000063975
AA Change: P564S
| 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: P564S
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000137607
Gene: ENSMUSG00000063975
AA Change: P564S
| 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 |
0.6763 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
97% (73/75) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
A |
G |
13: 77,451,433 (GRCm39) |
E839G |
possibly damaging |
Het |
| Adgrf3 |
T |
A |
5: 30,402,304 (GRCm39) |
T575S |
probably damaging |
Het |
| Akap9 |
T |
A |
5: 4,021,926 (GRCm39) |
C1158S |
probably benign |
Het |
| Arhgap39 |
A |
G |
15: 76,610,833 (GRCm39) |
F926L |
probably damaging |
Het |
| BC035947 |
G |
T |
1: 78,474,567 (GRCm39) |
T655K |
probably benign |
Het |
| Bcas1 |
T |
C |
2: 170,248,730 (GRCm39) |
T64A |
probably benign |
Het |
| Bltp1 |
T |
A |
3: 36,971,809 (GRCm39) |
F514Y |
probably benign |
Het |
| Brca2 |
A |
G |
5: 150,464,369 (GRCm39) |
K1378E |
probably benign |
Het |
| Card6 |
A |
T |
15: 5,130,435 (GRCm39) |
N320K |
probably damaging |
Het |
| Ccdc3 |
A |
T |
2: 5,142,871 (GRCm39) |
I43F |
probably damaging |
Het |
| Cd200r1 |
T |
C |
16: 44,610,527 (GRCm39) |
S212P |
probably damaging |
Het |
| Cdh8 |
T |
C |
8: 99,759,854 (GRCm39) |
I632V |
probably benign |
Het |
| Col25a1 |
A |
G |
3: 130,357,803 (GRCm39) |
E477G |
probably damaging |
Het |
| Cpne5 |
A |
T |
17: 29,402,991 (GRCm39) |
C215S |
possibly damaging |
Het |
| Crim1 |
T |
A |
17: 78,681,512 (GRCm39) |
S989T |
possibly damaging |
Het |
| Dnhd1 |
G |
A |
7: 105,352,416 (GRCm39) |
R2523Q |
probably damaging |
Het |
| Dync1h1 |
T |
A |
12: 110,582,838 (GRCm39) |
N340K |
probably benign |
Het |
| Eif4e2 |
G |
A |
1: 87,153,960 (GRCm39) |
|
probably null |
Het |
| Ephb6 |
G |
T |
6: 41,596,638 (GRCm39) |
R895L |
possibly damaging |
Het |
| Esrrg |
T |
A |
1: 187,882,395 (GRCm39) |
H217Q |
probably benign |
Het |
| Fgl1 |
T |
A |
8: 41,653,594 (GRCm39) |
K100* |
probably null |
Het |
| Flt4 |
T |
C |
11: 49,521,430 (GRCm39) |
V450A |
probably benign |
Het |
| G6pc2 |
A |
T |
2: 69,051,128 (GRCm39) |
I74L |
probably benign |
Het |
| Gabrr1 |
T |
C |
4: 33,161,684 (GRCm39) |
M336T |
probably damaging |
Het |
| Gli1 |
T |
A |
10: 127,173,305 (GRCm39) |
T118S |
probably benign |
Het |
| Gm5435 |
A |
T |
12: 82,542,800 (GRCm39) |
|
noncoding transcript |
Het |
| Got1l1 |
A |
G |
8: 27,688,087 (GRCm39) |
L314P |
probably damaging |
Het |
| Hk3 |
T |
A |
13: 55,154,626 (GRCm39) |
I740F |
probably damaging |
Het |
| Htr7 |
C |
A |
19: 35,947,271 (GRCm39) |
A248S |
probably damaging |
Het |
| Igsf9b |
A |
G |
9: 27,235,475 (GRCm39) |
T508A |
probably damaging |
Het |
| Il16 |
T |
A |
7: 83,297,936 (GRCm39) |
N431I |
probably benign |
Het |
| Lax1 |
G |
A |
1: 133,607,914 (GRCm39) |
P276S |
probably damaging |
Het |
| Lrp2 |
A |
T |
2: 69,341,405 (GRCm39) |
V925E |
possibly damaging |
Het |
| Lrp3 |
T |
A |
7: 34,902,910 (GRCm39) |
T479S |
possibly damaging |
Het |
| Metrn |
G |
A |
17: 26,014,191 (GRCm39) |
R212C |
probably damaging |
Het |
| Mlip |
A |
C |
9: 77,254,975 (GRCm39) |
|
probably null |
Het |
| Mmp24 |
C |
T |
2: 155,641,697 (GRCm39) |
T175I |
probably damaging |
Het |
| N6amt1 |
A |
T |
16: 87,151,223 (GRCm39) |
D28V |
probably damaging |
Het |
| Or1e21 |
A |
T |
11: 73,344,677 (GRCm39) |
Y120* |
probably null |
Het |
| Or4f4b |
G |
A |
2: 111,314,488 (GRCm39) |
G238R |
probably damaging |
Het |
| Or5p52 |
A |
G |
7: 107,502,119 (GRCm39) |
H65R |
probably damaging |
Het |
| Or5p66 |
G |
T |
7: 107,885,949 (GRCm39) |
A128E |
probably damaging |
Het |
| Or6d15 |
T |
C |
6: 116,559,890 (GRCm39) |
T6A |
probably benign |
Het |
| Or8b12i |
T |
A |
9: 20,082,265 (GRCm39) |
I201F |
possibly damaging |
Het |
| Pcdh17 |
T |
A |
14: 84,770,433 (GRCm39) |
N970K |
probably damaging |
Het |
| Pdzrn3 |
T |
C |
6: 101,128,389 (GRCm39) |
Y759C |
probably damaging |
Het |
| Pkd2l2 |
T |
C |
18: 34,558,290 (GRCm39) |
L323P |
probably damaging |
Het |
| Psg21 |
G |
T |
7: 18,386,183 (GRCm39) |
|
probably benign |
Het |
| Rest |
T |
C |
5: 77,429,573 (GRCm39) |
V664A |
probably benign |
Het |
| Sco2 |
G |
A |
15: 89,256,175 (GRCm39) |
R160* |
probably null |
Het |
| Sfswap |
T |
A |
5: 129,591,882 (GRCm39) |
S300T |
probably damaging |
Het |
| Slc5a10 |
A |
T |
11: 61,569,392 (GRCm39) |
M329K |
probably benign |
Het |
| Stk38 |
A |
G |
17: 29,201,103 (GRCm39) |
F191S |
probably damaging |
Het |
| Svep1 |
T |
A |
4: 58,072,826 (GRCm39) |
Y2161F |
possibly damaging |
Het |
| Tada2a |
G |
A |
11: 83,970,428 (GRCm39) |
T441M |
possibly damaging |
Het |
| Tg |
T |
A |
15: 66,560,738 (GRCm39) |
N1033K |
probably benign |
Het |
| Thoc3 |
A |
T |
13: 54,615,686 (GRCm39) |
I126N |
probably damaging |
Het |
| Tnc |
T |
C |
4: 63,925,967 (GRCm39) |
|
probably null |
Het |
| Tnc |
A |
T |
4: 63,927,032 (GRCm39) |
D831E |
possibly damaging |
Het |
| Uhmk1 |
A |
T |
1: 170,038,787 (GRCm39) |
V100E |
probably damaging |
Het |
| Usp43 |
G |
A |
11: 67,812,742 (GRCm39) |
|
probably benign |
Het |
| Vmn2r90 |
A |
T |
17: 17,933,712 (GRCm39) |
Y424F |
probably benign |
Het |
| Vps33a |
C |
T |
5: 123,685,064 (GRCm39) |
|
probably null |
Het |
| Xirp2 |
A |
T |
2: 67,312,642 (GRCm39) |
K37I |
probably damaging |
Het |
| Zfp106 |
A |
T |
2: 120,363,988 (GRCm39) |
|
probably null |
Het |
| Zfp748 |
A |
T |
13: 67,690,647 (GRCm39) |
C204* |
probably null |
Het |
| Zfp998 |
T |
C |
13: 66,579,722 (GRCm39) |
R254G |
probably benign |
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 |
|
|
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'- GCCAAATGAAATCGTATTACTCGAG -3'
(R):5'- GCACTGGCTACTTGAGAATGAAG -3'
Sequencing Primer
(F):5'- ATGAAATCGTATTACTCGAGAGAATG -3'
(R):5'- TGCTGGATGTACAGAAAATTAATGG -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation