Incidental Mutation 'R5038:Slco1a5'
| ID |
393108 |
| 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 |
042628-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R5038 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
142179953-142268707 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 142208363 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 143
(T143A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137607
(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: T143A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000080116
Gene: ENSMUSG00000063975
AA Change: T143A
| 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 benign
Transcript: ENSMUST00000111825
AA Change: T143A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000137607
Gene: ENSMUSG00000063975
AA Change: T143A
| 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
AA Change: T101A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000124987
Gene: ENSMUSG00000063975
AA Change: T101A
| 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 |
|
| Meta Mutation Damage Score |
0.0991 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.5%
|
| Validation Efficiency |
94% (64/68) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930512M02Rik |
A |
T |
11: 11,539,375 (GRCm39) |
|
probably null |
Het |
| Abtb2 |
G |
T |
2: 103,397,408 (GRCm39) |
G113C |
probably damaging |
Het |
| Acsm5 |
A |
G |
7: 119,134,034 (GRCm39) |
T272A |
probably damaging |
Het |
| Adprs |
C |
T |
4: 126,211,102 (GRCm39) |
E272K |
possibly damaging |
Het |
| Agbl5 |
G |
A |
5: 31,060,403 (GRCm39) |
R141Q |
probably damaging |
Het |
| Atp7b |
A |
C |
8: 22,518,472 (GRCm39) |
I122S |
possibly damaging |
Het |
| B230219D22Rik |
T |
C |
13: 55,847,288 (GRCm39) |
Y134H |
probably damaging |
Het |
| Bnc1 |
A |
G |
7: 81,618,462 (GRCm39) |
S868P |
probably damaging |
Het |
| Camta1 |
T |
C |
4: 151,229,926 (GRCm39) |
E302G |
probably damaging |
Het |
| Car1 |
A |
G |
3: 14,835,933 (GRCm39) |
Y129H |
probably damaging |
Het |
| Cdh22 |
T |
C |
2: 164,984,197 (GRCm39) |
T352A |
probably benign |
Het |
| Ckmt2 |
T |
C |
13: 92,009,282 (GRCm39) |
E215G |
probably benign |
Het |
| Cyb5r4 |
T |
G |
9: 86,941,130 (GRCm39) |
|
probably null |
Het |
| Dhrs13 |
A |
G |
11: 77,923,256 (GRCm39) |
|
probably benign |
Het |
| Dsg1c |
G |
A |
18: 20,397,901 (GRCm39) |
A34T |
probably benign |
Het |
| Epb41l1 |
T |
C |
2: 156,363,330 (GRCm39) |
V613A |
probably benign |
Het |
| Fam114a1 |
A |
G |
5: 65,166,388 (GRCm39) |
M240V |
probably damaging |
Het |
| Gm15455 |
T |
C |
1: 33,877,257 (GRCm39) |
|
noncoding transcript |
Het |
| Herc1 |
T |
G |
9: 66,383,742 (GRCm39) |
|
probably benign |
Het |
| Ifna11 |
T |
C |
4: 88,738,314 (GRCm39) |
V40A |
probably benign |
Het |
| Ifna15 |
T |
C |
4: 88,476,266 (GRCm39) |
N73D |
probably benign |
Het |
| Imp4 |
A |
T |
1: 34,482,016 (GRCm39) |
L45F |
probably damaging |
Het |
| Jak3 |
G |
A |
8: 72,138,702 (GRCm39) |
A967T |
probably damaging |
Het |
| Krtap19-2 |
A |
T |
16: 88,670,916 (GRCm39) |
Y76* |
probably null |
Het |
| Map4k5 |
A |
T |
12: 69,871,388 (GRCm39) |
N492K |
probably damaging |
Het |
| Mycbp2 |
C |
T |
14: 103,534,375 (GRCm39) |
R372H |
probably damaging |
Het |
| Nos2 |
G |
A |
11: 78,813,140 (GRCm39) |
S16N |
probably benign |
Het |
| Nr2c2 |
A |
G |
6: 92,116,803 (GRCm39) |
T2A |
probably damaging |
Het |
| Nup188 |
T |
C |
2: 30,199,232 (GRCm39) |
Y267H |
probably damaging |
Het |
| Nxph2 |
G |
A |
2: 23,211,556 (GRCm39) |
|
probably null |
Het |
| Or5b107 |
T |
A |
19: 13,142,955 (GRCm39) |
D192E |
probably benign |
Het |
| Or5b96 |
T |
A |
19: 12,867,770 (GRCm39) |
H57L |
probably damaging |
Het |
| Or9i1b |
T |
A |
19: 13,896,822 (GRCm39) |
V146E |
possibly damaging |
Het |
| Otof |
C |
T |
5: 30,541,783 (GRCm39) |
E761K |
possibly damaging |
Het |
| Pik3r1 |
C |
T |
13: 101,825,952 (GRCm39) |
R37Q |
probably damaging |
Het |
| Pkn3 |
T |
C |
2: 29,975,293 (GRCm39) |
|
probably null |
Het |
| Pold3 |
A |
G |
7: 99,770,590 (GRCm39) |
V14A |
probably damaging |
Het |
| Ptpn14 |
T |
C |
1: 189,519,083 (GRCm39) |
S38P |
probably damaging |
Het |
| Raf1 |
G |
A |
6: 115,597,196 (GRCm39) |
Q35* |
probably null |
Het |
| Rps3a1 |
C |
A |
3: 86,045,338 (GRCm39) |
E251D |
probably benign |
Het |
| Scd1 |
C |
T |
19: 44,390,148 (GRCm39) |
V207M |
probably damaging |
Het |
| Shq1 |
A |
G |
6: 100,607,954 (GRCm39) |
V319A |
probably benign |
Het |
| Slc4a8 |
T |
C |
15: 100,693,702 (GRCm39) |
Y416H |
probably damaging |
Het |
| Snx9 |
T |
C |
17: 5,937,348 (GRCm39) |
V30A |
probably benign |
Het |
| Spdya |
T |
C |
17: 71,895,561 (GRCm39) |
|
probably benign |
Het |
| Stat1 |
A |
T |
1: 52,162,368 (GRCm39) |
N75I |
probably damaging |
Het |
| Sv2b |
A |
T |
7: 74,807,173 (GRCm39) |
M159K |
probably damaging |
Het |
| Tdh |
A |
T |
14: 63,733,575 (GRCm39) |
Y89* |
probably null |
Het |
| Tmc7 |
A |
G |
7: 118,142,588 (GRCm39) |
F600S |
probably damaging |
Het |
| Trpa1 |
T |
A |
1: 14,981,090 (GRCm39) |
H104L |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,678,984 (GRCm39) |
|
probably benign |
Het |
| Vmn1r113 |
A |
G |
7: 20,521,419 (GRCm39) |
I70M |
possibly damaging |
Het |
| Vmn1r171 |
A |
G |
7: 23,332,188 (GRCm39) |
M138V |
probably benign |
Het |
| Zfc3h1 |
G |
A |
10: 115,240,116 (GRCm39) |
V550I |
probably benign |
Het |
| Zfp335 |
G |
T |
2: 164,752,564 (GRCm39) |
S60* |
probably null |
Het |
| Zfp7 |
T |
C |
15: 76,776,010 (GRCm39) |
M684T |
probably benign |
Het |
| Zfp984 |
T |
A |
4: 147,839,903 (GRCm39) |
H316L |
probably damaging |
Het |
| Zmym2 |
T |
A |
14: 57,193,637 (GRCm39) |
Y1151N |
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 |
|
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 |
|
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'- CAATGTTGCCTAAGAAACAAAGGAGTC -3'
(R):5'- TGTTTTCAGGGAAGCAGGATC -3'
Sequencing Primer
(F):5'- CATCTCCCTTCTCTGAAGA -3'
(R):5'- TTCAGGGAAGCAGGATCACTCTTC -3'
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| Posted On |
2016-06-15 |
Incidental Mutation